-
1
-
-
0037811950
-
A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair
-
COI: 1:CAS:528:DC%2BD3sXotFahtrc%3D, PID: 12875771
-
Alcalai R, Metzger S, Rosenheck S, Meiner V, Chajek-Shaul T (2003) A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair. J Am Coll Cardiol 42:319–327
-
(2003)
J Am Coll Cardiol
, vol.42
, pp. 319-327
-
-
Alcalai, R.1
Metzger, S.2
Rosenheck, S.3
Meiner, V.4
Chajek-Shaul, T.5
-
2
-
-
56549126644
-
Development of squamous cell carcinomas in Darier disease: a new model for skin carcinogenesis?
-
COI: 1:STN:280:DC%2BD1cjmslChsQ%3D%3D, PID: 18808417
-
Alexandrescu DT, Dasanu CA, Farzanmehr H, Kauffman CL (2008) Development of squamous cell carcinomas in Darier disease: a new model for skin carcinogenesis? Br J Dermatol 159:1378–1380
-
(2008)
Br J Dermatol
, vol.159
, pp. 1378-1380
-
-
Alexandrescu, D.T.1
Dasanu, C.A.2
Farzanmehr, H.3
Kauffman, C.L.4
-
3
-
-
79958142900
-
Novel homozygous mutation in DSP causing skin fragility-woolly hair syndrome: report of a large family and review of the desmoplakin-related phenotypes
-
COI: 1:CAS:528:DC%2BC3MXpsVCqsrk%3D, PID: 20738328
-
Al-Owain M, Wakil S, Shareef F, Al-Fatani A, Hamadah E, Haider M, Al-Hindi H, Awaji A, Khalifa O, Baz B, Ramadhan R, Meyer B (2011) Novel homozygous mutation in DSP causing skin fragility-woolly hair syndrome: report of a large family and review of the desmoplakin-related phenotypes. Clin Genet 80:50–58
-
(2011)
Clin Genet
, vol.80
, pp. 50-58
-
-
Al-Owain, M.1
Wakil, S.2
Shareef, F.3
Al-Fatani, A.4
Hamadah, E.5
Haider, M.6
Al-Hindi, H.7
Awaji, A.8
Khalifa, O.9
Baz, B.10
Ramadhan, R.11
Meyer, B.12
-
4
-
-
33748779315
-
Arrhythmogenic right ventricular cardiomyopathy caused by deletions in plakophilin-2 and plakoglobin (Naxos disease) in families from Greece and Cyprus: genotype-phenotype relations, diagnostic features and prognosis
-
COI: 1:CAS:528:DC%2BD28XhtFSku7rF, PID: 16893920
-
Antoniades L, Tsatsopoulou A, Anastasakis A, Syrris P, Asimaki A, Panagiotakos D, Zambartas C, Stefanadis C, McKenna WJ, Protonotarios N (2006) Arrhythmogenic right ventricular cardiomyopathy caused by deletions in plakophilin-2 and plakoglobin (Naxos disease) in families from Greece and Cyprus: genotype-phenotype relations, diagnostic features and prognosis. Eur Heart J 27:2208–2216
-
(2006)
Eur Heart J
, vol.27
, pp. 2208-2216
-
-
Antoniades, L.1
Tsatsopoulou, A.2
Anastasakis, A.3
Syrris, P.4
Asimaki, A.5
Panagiotakos, D.6
Zambartas, C.7
Stefanadis, C.8
McKenna, W.J.9
Protonotarios, N.10
-
5
-
-
0032930569
-
Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma
-
COI: 1:STN:280:DyaK1M7gsF2hug%3D%3D, PID: 9887343
-
Armstrong DK, McKenna KE, Purkis PE, Green KJ, Eady RA, Leigh IM, Hughes AE (1999) Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma. Hum Mol Genet 8:143–148
-
(1999)
Hum Mol Genet
, vol.8
, pp. 143-148
-
-
Armstrong, D.K.1
McKenna, K.E.2
Purkis, P.E.3
Green, K.J.4
Eady, R.A.5
Leigh, I.M.6
Hughes, A.E.7
-
6
-
-
35348913125
-
A novel dominant mutation in plakoglobin causes arrhythmogenic right ventricular cardiomyopathy
-
COI: 1:CAS:528:DC%2BD2sXht1KmsLzM, PID: 17924338
-
Asimaki A, Syrris P, Wichter T, Matthias P, Saffitz JE, McKenna WJ (2007) A novel dominant mutation in plakoglobin causes arrhythmogenic right ventricular cardiomyopathy. Am J Hum Genet 81:964–973
-
(2007)
Am J Hum Genet
, vol.81
, pp. 964-973
-
-
Asimaki, A.1
Syrris, P.2
Wichter, T.3
Matthias, P.4
Saffitz, J.E.5
McKenna, W.J.6
-
7
-
-
63849138458
-
Unique epidermolytic bullous dermatosis with associated lethal cardiomyopathy related to novel desmoplakin mutations
-
PID: 19178614
-
Asimaki A, Syrris P, Ward D, Guereta LG, Saffitz JE, McKenna WJ (2009) Unique epidermolytic bullous dermatosis with associated lethal cardiomyopathy related to novel desmoplakin mutations. J Cutan Pathol 36:553–559
-
(2009)
J Cutan Pathol
, vol.36
, pp. 553-559
-
-
Asimaki, A.1
Syrris, P.2
Ward, D.3
Guereta, L.G.4
Saffitz, J.E.5
McKenna, W.J.6
-
8
-
-
70350492104
-
A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles
-
COI: 1:CAS:528:DC%2BD1MXhsFWht7bM, PID: 19765682
-
Ayub M, Basit S, Jelani M, Ur Rehman F, Iqbal M, Yasinzai M, Ahmad W (2009) A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles. Am J Hum Genet 85:515–520
-
(2009)
Am J Hum Genet
, vol.85
, pp. 515-520
-
-
Ayub, M.1
Basit, S.2
Jelani, M.3
Ur Rehman, F.4
Iqbal, M.5
Yasinzai, M.6
Ahmad, W.7
-
9
-
-
33846798366
-
Striate palmoplantar keratoderma resulting from a frameshift mutation in the desmoglein 1 gene
-
COI: 1:CAS:528:DC%2BD2sXhs1Chtbs%3D, PID: 17194569
-
Barber AG, Wajid M, Columbo M, Lubetkin J, Christiano AM (2007) Striate palmoplantar keratoderma resulting from a frameshift mutation in the desmoglein 1 gene. J Dermatol Sci 45:161–166
-
(2007)
J Dermatol Sci
, vol.45
, pp. 161-166
-
-
Barber, A.G.1
Wajid, M.2
Columbo, M.3
Lubetkin, J.4
Christiano, A.M.5
-
10
-
-
21644461500
-
Intragenic deletion in the Desmoglein 4 gene underlies the skin phenotype in the Iffa Credo “hairless” rat
-
COI: 1:CAS:528:DC%2BD2MXptVaksQ%3D%3D, PID: 15606503
-
Bazzi H, Kljuic A, Christiano AM, Christiano AM, Panteleyev AA (2004) Intragenic deletion in the Desmoglein 4 gene underlies the skin phenotype in the Iffa Credo “hairless” rat. Differentiation 72:450–464
-
(2004)
Differentiation
, vol.72
, pp. 450-464
-
-
Bazzi, H.1
Kljuic, A.2
Christiano, A.M.3
Christiano, A.M.4
Panteleyev, A.A.5
-
11
-
-
33644873461
-
Desmoglein 4 mutations underlie localized autosomal recessive hypotrichosis in humans, mice, and rats
-
COI: 1:CAS:528:DC%2BD28Xpt1anuw%3D%3D
-
Bazzi H, Martinez-Mir A, Kljuic A, Christiano AM (2005) Desmoglein 4 mutations underlie localized autosomal recessive hypotrichosis in humans, mice, and rats. J Invest Dermatol Symp Proc 10:222–224
-
(2005)
J Invest Dermatol Symp Proc
, vol.10
, pp. 222-224
-
-
Bazzi, H.1
Martinez-Mir, A.2
Kljuic, A.3
Christiano, A.M.4
-
12
-
-
33644863162
-
Desmoglein 4 is expressed in highly differentiated keratinocytes and trichocytes in human epidermis and hair follicle
-
COI: 1:CAS:528:DC%2BD28XjsVCmsbk%3D, PID: 16533311
-
Bazzi H, Getz A, Mahoney MG, Ishida-Yamamoto A, Langbein L, Wahl JK 3rd, Christiano AM (2006) Desmoglein 4 is expressed in highly differentiated keratinocytes and trichocytes in human epidermis and hair follicle. Differentiation 74:129–140
-
(2006)
Differentiation
, vol.74
, pp. 129-140
-
-
Bazzi, H.1
Getz, A.2
Mahoney, M.G.3
Ishida-Yamamoto, A.4
Langbein, L.5
Wahl, J.K.6
Christiano, A.M.7
-
13
-
-
0141991200
-
2+ stores
-
COI: 1:CAS:528:DC%2BD3sXotFOjtLY%3D, PID: 14632183
-
2+ stores. J Invest Dermatol 121:688–694
-
(2003)
J Invest Dermatol
, vol.121
, pp. 688-694
-
-
Behne, M.J.1
Tu, C.L.2
Aronchik, I.3
Epstein, E.4
Bench, G.5
Bikle, D.D.6
Pozzan, T.7
Mauro, T.M.8
-
14
-
-
24144459583
-
Histopathological and ultrastructural study of ectodermal dysplasia/skin fragility syndrome
-
PID: 16121056
-
Bergman R, Sprecher E (2005) Histopathological and ultrastructural study of ectodermal dysplasia/skin fragility syndrome. Am J Dermatopathol 27:333–338
-
(2005)
Am J Dermatopathol
, vol.27
, pp. 333-338
-
-
Bergman, R.1
Sprecher, E.2
-
15
-
-
71649093068
-
Disadhesion of epidermal keratinocytes: a histologic clue to palmoplantar keratodermas caused by DSG1 mutations
-
PID: 20082890
-
Bergman R, Hershkovitz D, Fuchs D, Indelman M, Gadot Y, Sprecher E (2010) Disadhesion of epidermal keratinocytes: a histologic clue to palmoplantar keratodermas caused by DSG1 mutations. J Am Acad Dermatol 62:107–113
-
(2010)
J Am Acad Dermatol
, vol.62
, pp. 107-113
-
-
Bergman, R.1
Hershkovitz, D.2
Fuchs, D.3
Indelman, M.4
Gadot, Y.5
Sprecher, E.6
-
16
-
-
0038125598
-
Calcium signalling: dynamics, homeostasis and remodelling
-
COI: 1:CAS:528:DC%2BD3sXltVWmsr8%3D, PID: 12838335
-
Berridge MJ, Bootman MD, Roderick HL (2003) Calcium signalling: dynamics, homeostasis and remodelling. Nat Rev Mol Cell Biol 4:517–529
-
(2003)
Nat Rev Mol Cell Biol
, vol.4
, pp. 517-529
-
-
Berridge, M.J.1
Bootman, M.D.2
Roderick, H.L.3
-
17
-
-
0030589631
-
Embryonic heart and skin defects in mice lacking plakoglobin
-
COI: 1:CAS:528:DyaK2sXmslGi, PID: 8954745
-
Bierkamp C, McLaughlin KJ, Schwarz H, Huber O, Kemler R (1996) Embryonic heart and skin defects in mice lacking plakoglobin. Dev Biol 180:780–785
-
(1996)
Dev Biol
, vol.180
, pp. 780-785
-
-
Bierkamp, C.1
McLaughlin, K.J.2
Schwarz, H.3
Huber, O.4
Kemler, R.5
-
18
-
-
0037123593
-
C-cadherin ectodomain structure and implications for cell adhesion mechanisms
-
COI: 1:CAS:528:DC%2BD38Xjsl2qur4%3D, PID: 11964443
-
Boggon TJ, Murray J, Chappuis-Flament S, Wong E, Gumbiner BM, Shapiro L (2002) C-cadherin ectodomain structure and implications for cell adhesion mechanisms. Science 296:1308–1313
-
(2002)
Science
, vol.296
, pp. 1308-1313
-
-
Boggon, T.J.1
Murray, J.2
Chappuis-Flament, S.3
Wong, E.4
Gumbiner, B.M.5
Shapiro, L.6
-
19
-
-
34250641042
-
Acquired palmoplantar keratoderma and immunobullous disease associated with antibodies to desmocollin 3
-
Bolling MC, Mekkes JR, Goldschmidt WF, Noesel CJ van, Jonkman MF, Pas HH (2007) Acquired palmoplantar keratoderma and immunobullous disease associated with antibodies to desmocollin 3. Br J Dermatol 157:168–173
-
(2007)
Br J Dermatol
, vol.157
, pp. 168-173
-
-
Bolling, M.C.1
Mekkes, J.R.2
Goldschmidt, W.F.3
Noesel, C.J.4
Jonkman, M.F.5
Pas, H.H.6
-
20
-
-
77949752021
-
Elastase 2 is expressed in human and mouse epidermis and impairs skin barrier function in Netherton syndrome through filaggrin and lipid misprocessing
-
COI: 1:CAS:528:DC%2BC3cXjtV2nsLg%3D, PID: 20179351
-
Bonnart C, Deraison C, Lacroix M, Uchida Y, Besson C, Robin A, Briot A, Gonthier M, Lamant L, Dubus P, Monsarrat B, Hovnanian A (2010) Elastase 2 is expressed in human and mouse epidermis and impairs skin barrier function in Netherton syndrome through filaggrin and lipid misprocessing. J Clin Invest 120:871–882
-
(2010)
J Clin Invest
, vol.120
, pp. 871-882
-
-
Bonnart, C.1
Deraison, C.2
Lacroix, M.3
Uchida, Y.4
Besson, C.5
Robin, A.6
Briot, A.7
Gonthier, M.8
Lamant, L.9
Dubus, P.10
Monsarrat, B.11
Hovnanian, A.12
-
21
-
-
0032779596
-
Plakophilin-3, a novel armadillo-like protein present in nuclei and desmosomes of epithelial cells
-
Bonne S, Hengel J van, Nollet F, Kools P, Roy F van (1999) Plakophilin-3, a novel armadillo-like protein present in nuclei and desmosomes of epithelial cells. J Cell Sci 112:2265–2276
-
(1999)
J Cell Sci
, vol.112
, pp. 2265-2276
-
-
Bonne, S.1
van, H.J.2
Nollet, F.3
Kools, P.4
van, R.F.5
-
22
-
-
34047099312
-
Suprabasal Dsg2 expression in transgenic mouse skin confers a hyperproliferative and apoptosis-resistant phenotype to keratinocytes
-
COI: 1:CAS:528:DC%2BD2sXkt1Chu7o%3D, PID: 17284515
-
Brennan D, Hu Y, Joubeh S, Choi YW, Whitaker-Menezes D, O’Brien T, Uitto J, Rodeck U, Mahoney MG (2007) Suprabasal Dsg2 expression in transgenic mouse skin confers a hyperproliferative and apoptosis-resistant phenotype to keratinocytes. J Cell Sci 120:758–771
-
(2007)
J Cell Sci
, vol.120
, pp. 758-771
-
-
Brennan, D.1
Hu, Y.2
Joubeh, S.3
Choi, Y.W.4
Whitaker-Menezes, D.5
O’Brien, T.6
Uitto, J.7
Rodeck, U.8
Mahoney, M.G.9
-
23
-
-
66049125101
-
Kallikrein 5 induces atopic dermatitis-like lesions through PAR2-mediated thymic stromal lymphopoietin expression in Netherton syndrome
-
COI: 1:CAS:528:DC%2BD1MXlvVGmu74%3D, PID: 19414552
-
Briot A, Deraison C, Lacroix M, Bonnart C, Robin A, Besson C, Dubus P, Hovnanian A (2009) Kallikrein 5 induces atopic dermatitis-like lesions through PAR2-mediated thymic stromal lymphopoietin expression in Netherton syndrome. J Exp Med 206:1135–1147
-
(2009)
J Exp Med
, vol.206
, pp. 1135-1147
-
-
Briot, A.1
Deraison, C.2
Lacroix, M.3
Bonnart, C.4
Robin, A.5
Besson, C.6
Dubus, P.7
Hovnanian, A.8
-
24
-
-
82755194912
-
Cell-cell connectivity: desmosomes and disease
-
COI: 1:CAS:528:DC%2BC3MXhsFCqsbrK, PID: 21989576
-
Brooke MA, Nitoiu D, Kelsell DP (2012) Cell-cell connectivity: desmosomes and disease. J Pathol 226:158–171
-
(2012)
J Pathol
, vol.226
, pp. 158-171
-
-
Brooke, M.A.1
Nitoiu, D.2
Kelsell, D.P.3
-
25
-
-
0026504155
-
Hailey-Hailey disease: the clinical features, response to treatment and prognosis
-
COI: 1:STN:280:DyaK383gslOktg%3D%3D, PID: 1554604
-
Burge SM (1992) Hailey-Hailey disease: the clinical features, response to treatment and prognosis. Br J Dermatol 126:275–282
-
(1992)
Br J Dermatol
, vol.126
, pp. 275-282
-
-
Burge, S.M.1
-
26
-
-
0025981751
-
An immunohistological study of desmosomes in Darier’s disease and Hailey-Hailey disease
-
COI: 1:STN:280:DyaK3M3gslyqtg%3D%3D, PID: 2018730
-
Burge SM, Garrod DR (1991) An immunohistological study of desmosomes in Darier’s disease and Hailey-Hailey disease. Br J Dermatol 124:242–251
-
(1991)
Br J Dermatol
, vol.124
, pp. 242-251
-
-
Burge, S.M.1
Garrod, D.R.2
-
27
-
-
0026713341
-
Adhesion molecules and related proteins in Darier’s disease and Hailey-Hailey disease
-
COI: 1:STN:280:DyaK3s%2FktFWlsQ%3D%3D, PID: 1419753
-
Burge SM, Schomberg KH (1992) Adhesion molecules and related proteins in Darier’s disease and Hailey-Hailey disease. Br J Dermatol 127:335–343
-
(1992)
Br J Dermatol
, vol.127
, pp. 335-343
-
-
Burge, S.M.1
Schomberg, K.H.2
-
28
-
-
0025818483
-
Hailey-Hailey disease: a widespread abnormality of cell adhesion
-
COI: 1:STN:280:DyaK3M3it12msA%3D%3D, PID: 2025553
-
Burge SM, Millard PR, Wojnarowska F (1991) Hailey-Hailey disease: a widespread abnormality of cell adhesion. Br J Dermatol 124:329–332
-
(1991)
Br J Dermatol
, vol.124
, pp. 329-332
-
-
Burge, S.M.1
Millard, P.R.2
Wojnarowska, F.3
-
29
-
-
77952420966
-
Homozygous mutations in the 5′ region of the JUP gene result in cutaneous disease but normal heart development in children
-
COI: 1:CAS:528:DC%2BC3cXlvFOjt7g%3D, PID: 20130592
-
Cabral RM, Liu L, Hogan C, Dopping-Hepenstal PJ, Winik BC, Asial RA, Dobson R, Mein CA, Baselaga PA, Mellerio JE, Nanda A, Boente Mdel C, Kelsell DP, McGrath JA, South AP (2010) Homozygous mutations in the 5′ region of the JUP gene result in cutaneous disease but normal heart development in children. J Invest Dermatol 130:1543–1550
-
(2010)
J Invest Dermatol
, vol.130
, pp. 1543-1550
-
-
Cabral, R.M.1
Liu, L.2
Hogan, C.3
Dopping-Hepenstal, P.J.4
Winik, B.C.5
Asial, R.A.6
Dobson, R.7
Mein, C.A.8
Baselaga, P.A.9
Mellerio, J.E.10
Nanda, A.11
Boente Mdel, C.12
Kelsell, D.P.13
McGrath, J.A.14
South, A.P.15
-
30
-
-
0031717898
-
Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy
-
COI: 1:STN:280:DyaK1cvgvFWmtw%3D%3D, PID: 9738775
-
Carvajal-Huerta L (1998) Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy. J Am Acad Dermatol 39:418–421
-
(1998)
J Am Acad Dermatol
, vol.39
, pp. 418-421
-
-
Carvajal-Huerta, L.1
-
31
-
-
1842639311
-
Homo-oligomerization of human corneodesmosin is mediated by its N-terminal glycine loop domain
-
COI: 1:CAS:528:DC%2BD2cXjt1Sms7s%3D, PID: 15086562
-
Caubet C, Jonca N, Lopez F, Esteve JP, Simon M, Serre G (2004) Homo-oligomerization of human corneodesmosin is mediated by its N-terminal glycine loop domain. J Invest Dermatol 122:747–754
-
(2004)
J Invest Dermatol
, vol.122
, pp. 747-754
-
-
Caubet, C.1
Jonca, N.2
Lopez, F.3
Esteve, J.P.4
Simon, M.5
Serre, G.6
-
32
-
-
77956635278
-
A new amyloidosis caused by fibrillar aggregates of mutated corneodesmosin
-
COI: 1:CAS:528:DC%2BC3cXhtFGgtrfF, PID: 20448140
-
Caubet C, Bousset L, Clemmensen O, Sourigues Y, Bygum A, Chavanas S, Coudane F, Hsu CY, Betz RC, Melki R, Simon M, Serre G (2010) A new amyloidosis caused by fibrillar aggregates of mutated corneodesmosin. FASEB J 24:3416–3426
-
(2010)
FASEB J
, vol.24
, pp. 3416-3426
-
-
Caubet, C.1
Bousset, L.2
Clemmensen, O.3
Sourigues, Y.4
Bygum, A.5
Chavanas, S.6
Coudane, F.7
Hsu, C.Y.8
Betz, R.C.9
Melki, R.10
Simon, M.11
Serre, G.12
-
33
-
-
78650471794
-
2+ depletion activates XBP1 and controls terminal differentiation in keratinocytes and epidermis
-
COI: 1:CAS:528:DC%2BC3MXhsl2isbo%3D, PID: 20846312
-
2+ depletion activates XBP1 and controls terminal differentiation in keratinocytes and epidermis. Br J Dermatol 164:16–25
-
(2011)
Br J Dermatol
, vol.164
, pp. 16-25
-
-
Celli, A.1
Mackenzie, D.S.2
Crumrine, D.S.3
Tu, C.L.4
Hupe, M.5
Bikle, D.D.6
Elias, P.M.7
Mauro, T.M.8
-
34
-
-
84858276574
-
2+−dependent keratinocyte adhesion and differentiation is mediated via the sphingolipid pathway: a therapeutic target for Darier’s disease
-
COI: 1:CAS:528:DC%2BC38XhtlOmtb0%3D, PID: 22277942
-
2+−dependent keratinocyte adhesion and differentiation is mediated via the sphingolipid pathway: a therapeutic target for Darier’s disease. J Invest Dermatol 132:1188–1195
-
(2012)
J Invest Dermatol
, vol.132
, pp. 1188-1195
-
-
Celli, A.1
Mackenzie, D.S.2
Zhai, Y.3
Tu, C.L.4
Bikle, D.D.5
Holleran, W.M.6
Uchida, Y.7
Mauro, T.M.8
-
35
-
-
78650972454
-
A new hypo/oligodontia syndrome: Carvajal/Naxos syndrome secondary to desmoplakin-dominant mutations
-
COI: 1:STN:280:DC%2BC3M%2FlvVOmtQ%3D%3D, PID: 20940358
-
Chalabreysse L, Senni F, Bruyere P, Aime B, Ollagnier C, Bozio A, Bouvagnet P (2011) A new hypo/oligodontia syndrome: Carvajal/Naxos syndrome secondary to desmoplakin-dominant mutations. J Dent Res 90:58–64
-
(2011)
J Dent Res
, vol.90
, pp. 58-64
-
-
Chalabreysse, L.1
Senni, F.2
Bruyere, P.3
Aime, B.4
Ollagnier, C.5
Bozio, A.6
Bouvagnet, P.7
-
36
-
-
0034678347
-
Plakoglobin suppresses epithelial proliferation and hair growth in vivo
-
COI: 1:CAS:528:DC%2BD3cXislKqsbY%3D, PID: 10769039
-
Charpentier E, Lavker RM, Acquista E, Cowin P (2000) Plakoglobin suppresses epithelial proliferation and hair growth in vivo. J Cell Biol 149:503–520
-
(2000)
J Cell Biol
, vol.149
, pp. 503-520
-
-
Charpentier, E.1
Lavker, R.M.2
Acquista, E.3
Cowin, P.4
-
37
-
-
0043170836
-
Proteolytic regulation of forkhead transcription factor FOXO3a by caspase-3-like proteases
-
COI: 1:CAS:528:DC%2BD3sXls1yntb8%3D, PID: 12881712
-
Charvet C, Alberti I, Luciano F, Jacquel A, Bernard A, Auberger P, Deckert M (2003) Proteolytic regulation of forkhead transcription factor FOXO3a by caspase-3-like proteases. Oncogene 22:4557–4568
-
(2003)
Oncogene
, vol.22
, pp. 4557-4568
-
-
Charvet, C.1
Alberti, I.2
Luciano, F.3
Jacquel, A.4
Bernard, A.5
Auberger, P.6
Deckert, M.7
-
38
-
-
0034120666
-
Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome
-
Chavanas S, Bodemer C, Rochat A, Hamel-Teillac D, Ali M, Irvine AD, Bonafe JL, Wilkinson J, Taieb A, Barrandon Y, Harper JI, Prost Y de, Hovnanian A (2000) Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome. Nat Genet 25:141–142
-
(2000)
Nat Genet
, vol.25
, pp. 141-142
-
-
Chavanas, S.1
Bodemer, C.2
Rochat, A.3
Hamel-Teillac, D.4
Ali, M.5
Irvine, A.D.6
Bonafe, J.L.7
Wilkinson, J.8
Taieb, A.9
Barrandon, Y.10
Harper, J.I.11
de, P.Y.12
Hovnanian, A.13
-
39
-
-
53349175477
-
Loss of desmocollin 3 in mice leads to epidermal blistering
-
COI: 1:CAS:528:DC%2BD1cXht1SrsrbP, PID: 18682494
-
Chen J, Den Z, Koch PJ (2008) Loss of desmocollin 3 in mice leads to epidermal blistering. J Cell Sci 121:2844–2849
-
(2008)
J Cell Sci
, vol.121
, pp. 2844-2849
-
-
Chen, J.1
Den, Z.2
Koch, P.J.3
-
40
-
-
0346993666
-
Assessment of splice variant-specific functions of desmocollin 1 in the skin
-
COI: 1:CAS:528:DC%2BD2cXhtVWntg%3D%3D, PID: 14673151
-
Cheng X, Mihindukulasuriya K, Den Z, Kowalczyk AP, Calkins CC, Ishiko A, Shimizu A, Koch PJ (2004) Assessment of splice variant-specific functions of desmocollin 1 in the skin. Mol Cell Biol 24:154–163
-
(2004)
Mol Cell Biol
, vol.24
, pp. 154-163
-
-
Cheng, X.1
Mihindukulasuriya, K.2
Den, Z.3
Kowalczyk, A.P.4
Calkins, C.C.5
Ishiko, A.6
Shimizu, A.7
Koch, P.J.8
-
41
-
-
0035956432
-
Mice lacking desmocollin 1 show epidermal fragility accompanied by barrier defects and abnormal differentiation
-
COI: 1:CAS:528:DC%2BD3MXosl2lu7c%3D, PID: 11714727
-
Chidgey M, Brakebusch C, Gustafsson E, Cruchley A, Hail C, Kirk S, Merritt A, North A, Tselepis C, Hewitt J, Byrne C, Fassler R, Garrod D (2001) Mice lacking desmocollin 1 show epidermal fragility accompanied by barrier defects and abnormal differentiation. J Cell Biol 155:821–832
-
(2001)
J Cell Biol
, vol.155
, pp. 821-832
-
-
Chidgey, M.1
Brakebusch, C.2
Gustafsson, E.3
Cruchley, A.4
Hail, C.5
Kirk, S.6
Merritt, A.7
North, A.8
Tselepis, C.9
Hewitt, J.10
Byrne, C.11
Fassler, R.12
Garrod, D.13
-
42
-
-
0030610137
-
2+−dependent heterophilic interaction between desmosomal cadherins, desmoglein and desmocollin, contributes to cell-cell adhesion
-
COI: 1:CAS:528:DyaK2sXksF2hu78%3D, PID: 9214392
-
2+−dependent heterophilic interaction between desmosomal cadherins, desmoglein and desmocollin, contributes to cell-cell adhesion. J Cell Biol 138:193–201
-
(1997)
J Cell Biol
, vol.138
, pp. 193-201
-
-
Chitaev, N.A.1
Troyanovsky, S.M.2
-
43
-
-
0032568477
-
Gene for arrhythmogenic right ventricular cardiomyopathy with diffuse nonepidermolytic palmoplantar keratoderma and woolly hair (Naxos disease) maps to 17q21
-
COI: 1:STN:280:DyaK1c3nt1SltQ%3D%3D, PID: 9610536
-
Coonar AS, Protonotarios N, Tsatsopoulou A, Needham EW, Houlston RS, Cliff S, Otter MI, Murday VA, Mattu RK, McKenna WJ (1998) Gene for arrhythmogenic right ventricular cardiomyopathy with diffuse nonepidermolytic palmoplantar keratoderma and woolly hair (Naxos disease) maps to 17q21. Circulation 97:2049–2058
-
(1998)
Circulation
, vol.97
, pp. 2049-2058
-
-
Coonar, A.S.1
Protonotarios, N.2
Tsatsopoulou, A.3
Needham, E.W.4
Houlston, R.S.5
Cliff, S.6
Otter, M.I.7
Murday, V.A.8
Mattu, R.K.9
McKenna, W.J.10
-
44
-
-
28844454237
-
A non-sense mutation in the corneodesmosin gene in a Mexican family with hypotrichosis simplex of the scalp
-
COI: 1:CAS:528:DC%2BD28XmsFaqtg%3D%3D, PID: 16307662
-
Davalos NO, Garcia-Vargas A, Pforr J, Davalos IP, Picos-Cardenas VJ, Garcia-Cruz D, Kruse R, Figuera LE, Nothen MM, Betz RC (2005) A non-sense mutation in the corneodesmosin gene in a Mexican family with hypotrichosis simplex of the scalp. Br J Dermatol 153:1216–1219
-
(2005)
Br J Dermatol
, vol.153
, pp. 1216-1219
-
-
Davalos, N.O.1
Garcia-Vargas, A.2
Pforr, J.3
Davalos, I.P.4
Picos-Cardenas, V.J.5
Garcia-Cruz, D.6
Kruse, R.7
Figuera, L.E.8
Nothen, M.M.9
Betz, R.C.10
-
46
-
-
33644984369
-
Desmocollin 3 is required for pre-implantation development of the mouse embryo
-
COI: 1:CAS:528:DC%2BD28Xit1Kltr8%3D, PID: 16418220
-
Den Z, Cheng X, Merched-Sauvage M, Koch PJ (2006) Desmocollin 3 is required for pre-implantation development of the mouse embryo. J Cell Sci 119:482–489
-
(2006)
J Cell Sci
, vol.119
, pp. 482-489
-
-
Den, Z.1
Cheng, X.2
Merched-Sauvage, M.3
Koch, P.J.4
-
47
-
-
19944427605
-
Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity
-
COI: 1:CAS:528:DC%2BD2cXhtFChsLzF, PID: 15619623
-
Descargues P, Deraison C, Bonnart C, Kreft M, Kishibe M, Ishida-Yamamoto A, Elias P, Barrandon Y, Zambruno G, Sonnenberg A, Hovnanian A (2005) Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity. Nat Genet 37:56–65
-
(2005)
Nat Genet
, vol.37
, pp. 56-65
-
-
Descargues, P.1
Deraison, C.2
Bonnart, C.3
Kreft, M.4
Kishibe, M.5
Ishida-Yamamoto, A.6
Elias, P.7
Barrandon, Y.8
Zambruno, G.9
Sonnenberg, A.10
Hovnanian, A.11
-
48
-
-
33745187792
-
Corneodesmosomal cadherins are preferential targets of stratum corneum trypsin- and chymotrypsin-like hyperactivity in Netherton syndrome
-
COI: 1:CAS:528:DC%2BD28Xls1Khu74%3D, PID: 16628198
-
Descargues P, Deraison C, Prost C, Fraitag S, Mazereeuw-Hautier J, D’Alessio M, Ishida-Yamamoto A, Bodemer C, Zambruno G, Hovnanian A (2006) Corneodesmosomal cadherins are preferential targets of stratum corneum trypsin- and chymotrypsin-like hyperactivity in Netherton syndrome. J Invest Dermatol 126:1622–1632
-
(2006)
J Invest Dermatol
, vol.126
, pp. 1622-1632
-
-
Descargues, P.1
Deraison, C.2
Prost, C.3
Fraitag, S.4
Mazereeuw-Hautier, J.5
D’Alessio, M.6
Ishida-Yamamoto, A.7
Bodemer, C.8
Zambruno, G.9
Hovnanian, A.10
-
49
-
-
0346993780
-
Impaired trafficking of the desmoplakins in cultured Darier’s disease keratinocytes
-
COI: 1:CAS:528:DC%2BD2cXhtValtA%3D%3D, PID: 14675181
-
Dhitavat J, Cobbold C, Leslie N, Burge S, Hovnanian A (2003) Impaired trafficking of the desmoplakins in cultured Darier’s disease keratinocytes. J Invest Dermatol 121:1349–1355
-
(2003)
J Invest Dermatol
, vol.121
, pp. 1349-1355
-
-
Dhitavat, J.1
Cobbold, C.2
Leslie, N.3
Burge, S.4
Hovnanian, A.5
-
50
-
-
58649106194
-
Mutations in the desmoglein 1 gene in five Pakistani families with striate palmoplantar keratoderma
-
COI: 1:CAS:528:DC%2BD1MXhtlKltbY%3D, PID: 19157795
-
Dua-Awereh MB, Shimomura Y, Kraemer L, Wajid M, Christiano AM (2009) Mutations in the desmoglein 1 gene in five Pakistani families with striate palmoplantar keratoderma. J Dermatol Sci 53:192–197
-
(2009)
J Dermatol Sci
, vol.53
, pp. 192-197
-
-
Dua-Awereh, M.B.1
Shimomura, Y.2
Kraemer, L.3
Wajid, M.4
Christiano, A.M.5
-
51
-
-
33645647950
-
The differentiation-dependent desmosomal cadherin desmoglein 1 is a novel caspase-3 target that regulates apoptosis in keratinocytes
-
COI: 1:CAS:528:DC%2BD28XhtFSmt74%3D, PID: 16286477
-
Dusek RL, Getsios S, Chen F, Park JK, Amargo EV, Cryns VL, Green KJ (2006) The differentiation-dependent desmosomal cadherin desmoglein 1 is a novel caspase-3 target that regulates apoptosis in keratinocytes. J Biol Chem 281:3614–3624
-
(2006)
J Biol Chem
, vol.281
, pp. 3614-3624
-
-
Dusek, R.L.1
Getsios, S.2
Chen, F.3
Park, J.K.4
Amargo, E.V.5
Cryns, V.L.6
Green, K.J.7
-
52
-
-
80053575074
-
Cardiomyopathy with alopecia and palmoplantar keratoderma (CAPK) is caused by a JUP mutation
-
COI: 1:CAS:528:DC%2BC3MXhsVGgurnI, PID: 21668431
-
Erken H, Yariz KO, Duman D, Kaya CT, Sayin T, Heper AO, Tekin M (2011) Cardiomyopathy with alopecia and palmoplantar keratoderma (CAPK) is caused by a JUP mutation. Br J Dermatol 165:917–921
-
(2011)
Br J Dermatol
, vol.165
, pp. 917-921
-
-
Erken, H.1
Yariz, K.O.2
Duman, D.3
Kaya, C.T.4
Sayin, T.5
Heper, A.O.6
Tekin, M.7
-
53
-
-
33744983767
-
Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1
-
PID: 16781314
-
Ersoy-Evans S, Erkin G, Fassihi H, Chan I, Paller AS, Surucu S, McGrath JA (2006) Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1. J Am Acad Dermatol 55:157–161
-
(2006)
J Am Acad Dermatol
, vol.55
, pp. 157-161
-
-
Ersoy-Evans, S.1
Erkin, G.2
Fassihi, H.3
Chan, I.4
Paller, A.S.5
Surucu, S.6
McGrath, J.A.7
-
54
-
-
79960634106
-
A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene
-
COI: 1:CAS:528:DC%2BC3MXhtFGjs7%2FL, PID: 21495994
-
Farooq M, Ito M, Naito M, Shimomura Y (2011) A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene. Br J Dermatol 165:425–431
-
(2011)
Br J Dermatol
, vol.165
, pp. 425-431
-
-
Farooq, M.1
Ito, M.2
Naito, M.3
Shimomura, Y.4
-
57
-
-
0038247863
-
Interaction of the bullous pemphigoid antigen 1 (BP230) and desmoplakin with intermediate filaments is mediated by distinct sequences within their COOH terminus
-
COI: 1:CAS:528:DC%2BD3sXktFKiu7Y%3D, PID: 12802069
-
Fontao L, Favre B, Riou S, Geerts D, Jaunin F, Saurat JH, Green KJ, Sonnenberg A, Borradori L (2003) Interaction of the bullous pemphigoid antigen 1 (BP230) and desmoplakin with intermediate filaments is mediated by distinct sequences within their COOH terminus. Mol Biol Cell 14:1978–1992
-
(2003)
Mol Biol Cell
, vol.14
, pp. 1978-1992
-
-
Fontao, L.1
Favre, B.2
Riou, S.3
Geerts, D.4
Jaunin, F.5
Saurat, J.H.6
Green, K.J.7
Sonnenberg, A.8
Borradori, L.9
-
58
-
-
0036245242
-
Getting under the skin of epidermal morphogenesis
-
COI: 1:CAS:528:DC%2BD38Xit1Cks7o%3D, PID: 11972157
-
Fuchs E, Raghavan S (2002) Getting under the skin of epidermal morphogenesis. Nat Rev Genet 3:199–209
-
(2002)
Nat Rev Genet
, vol.3
, pp. 199-209
-
-
Fuchs, E.1
Raghavan, S.2
-
59
-
-
84896899981
-
Transgenic kallikrein 5 mice reproduce major cutaneous and systemic hallmarks of Netherton syndrome
-
Furio L, Veer S de, Jaillet M, Briot A, Robin A, Deraison C, Hovnanian A (2014) Transgenic kallikrein 5 mice reproduce major cutaneous and systemic hallmarks of Netherton syndrome. J Exp Med 211:499–513
-
(2014)
J Exp Med
, vol.211
, pp. 499-513
-
-
Furio, L.1
de, V.S.2
Jaillet, M.3
Briot, A.4
Robin, A.5
Deraison, C.6
Hovnanian, A.7
-
60
-
-
20644437528
-
Desmoplakin is required early in development for assembly of desmosomes and cytoskeletal linkage
-
COI: 1:CAS:528:DyaK1MXisFCqtw%3D%3D, PID: 9864371
-
Gallicano GI, Kouklis P, Bauer C, Yin M, Vasioukhin V, Degenstein L, Fuchs E (1998) Desmoplakin is required early in development for assembly of desmosomes and cytoskeletal linkage. J Cell Biol 143:2009–2022
-
(1998)
J Cell Biol
, vol.143
, pp. 2009-2022
-
-
Gallicano, G.I.1
Kouklis, P.2
Bauer, C.3
Yin, M.4
Vasioukhin, V.5
Degenstein, L.6
Fuchs, E.7
-
61
-
-
0035066688
-
Rescuing desmoplakin function in extra-embryonic ectoderm reveals the importance of this protein in embryonic heart, neuroepithelium, skin and vasculature
-
COI: 1:CAS:528:DC%2BD3MXislaqu78%3D, PID: 11222147
-
Gallicano GI, Bauer C, Fuchs E (2001) Rescuing desmoplakin function in extra-embryonic ectoderm reveals the importance of this protein in embryonic heart, neuroepithelium, skin and vasculature. Development 128:929–941
-
(2001)
Development
, vol.128
, pp. 929-941
-
-
Gallicano, G.I.1
Bauer, C.2
Fuchs, E.3
-
62
-
-
84898941424
-
Paraneoplastic pemphigus with eosinophilic spongiosis and autoantibodies against desmocollins 2 and 3
-
COI: 1:STN:280:DC%2BC2crksFeitg%3D%3D, PID: 24635070
-
Gallo E, Garcia-Martin P, Fraga J, Teye K, Koga H, Hashimoto T, Garcia-Diez A (2014) Paraneoplastic pemphigus with eosinophilic spongiosis and autoantibodies against desmocollins 2 and 3. Clin Exp Dermatol 39:323–326
-
(2014)
Clin Exp Dermatol
, vol.39
, pp. 323-326
-
-
Gallo, E.1
Garcia-Martin, P.2
Fraga, J.3
Teye, K.4
Koga, H.5
Hashimoto, T.6
Garcia-Diez, A.7
-
63
-
-
33745848407
-
Suppression of canonical Wnt/beta-catenin signaling by nuclear plakoglobin recapitulates phenotype of arrhythmogenic right ventricular cardiomyopathy
-
COI: 1:CAS:528:DC%2BD28XmvV2lu74%3D, PID: 16823493
-
Garcia-Gras E, Lombardi R, Giocondo MJ, Willerson JT, Schneider MD, Khoury DS, Marian AJ (2006) Suppression of canonical Wnt/beta-catenin signaling by nuclear plakoglobin recapitulates phenotype of arrhythmogenic right ventricular cardiomyopathy. J Clin Invest 116:2012–2021
-
(2006)
J Clin Invest
, vol.116
, pp. 2012-2021
-
-
Garcia-Gras, E.1
Lombardi, R.2
Giocondo, M.J.3
Willerson, J.T.4
Schneider, M.D.5
Khoury, D.S.6
Marian, A.J.7
-
64
-
-
39849097562
-
Desmosome structure, composition and function
-
COI: 1:CAS:528:DC%2BD1cXjtVSqtrc%3D, PID: 17854763
-
Garrod D, Chidgey M (2008) Desmosome structure, composition and function. Biochim Biophys Acta 1778:572–587
-
(2008)
Biochim Biophys Acta
, vol.1778
, pp. 572-587
-
-
Garrod, D.1
Chidgey, M.2
-
65
-
-
0035991944
-
Desmosomal adhesion: structural basis, molecular mechanism and regulation (Review)
-
COI: 1:CAS:528:DC%2BD38XlsVCltLg%3D, PID: 12126234
-
Garrod DR, Merritt AJ, Nie Z (2002) Desmosomal adhesion: structural basis, molecular mechanism and regulation (Review). Mol Membr Biol 19:81–94
-
(2002)
Mol Membr Biol
, vol.19
, pp. 81-94
-
-
Garrod, D.R.1
Merritt, A.J.2
Nie, Z.3
-
66
-
-
1842733459
-
Working out the strength and flexibility of desmosomes
-
COI: 1:CAS:528:DC%2BD2cXivV2itrw%3D, PID: 15071552
-
Getsios S, Huen AC, Green KJ (2004) Working out the strength and flexibility of desmosomes. Nat Rev Mol Cell Biol 5:271–281
-
(2004)
Nat Rev Mol Cell Biol
, vol.5
, pp. 271-281
-
-
Getsios, S.1
Huen, A.C.2
Green, K.J.3
-
67
-
-
67649586282
-
Desmoglein 1-dependent suppression of EGFR signaling promotes epidermal differentiation and morphogenesis
-
COI: 1:CAS:528:DC%2BD1MXot1aqt7c%3D, PID: 19546243
-
Getsios S, Simpson CL, Kojima S, Harmon R, Sheu LJ, Dusek RL, Cornwell M, Green KJ (2009) Desmoglein 1-dependent suppression of EGFR signaling promotes epidermal differentiation and morphogenesis. J Cell Biol 185:1243–1258
-
(2009)
J Cell Biol
, vol.185
, pp. 1243-1258
-
-
Getsios, S.1
Simpson, C.L.2
Kojima, S.3
Harmon, R.4
Sheu, L.J.5
Dusek, R.L.6
Cornwell, M.7
Green, K.J.8
-
68
-
-
0034568948
-
Are desmosomes more than tethers for intermediate filaments?
-
COI: 1:CAS:528:DC%2BD3MXivVGjsL0%3D, PID: 11252896
-
Green KJ, Gaudry CA (2000) Are desmosomes more than tethers for intermediate filaments? Nat Rev Mol Cell Biol 1:208–216
-
(2000)
Nat Rev Mol Cell Biol
, vol.1
, pp. 208-216
-
-
Green, K.J.1
Gaudry, C.A.2
-
69
-
-
35348927451
-
Desmosomes: new perspectives on a classic
-
COI: 1:CAS:528:DC%2BD2sXhtFKisbvE, PID: 17934502
-
Green KJ, Simpson CL (2007) Desmosomes: new perspectives on a classic. J Invest Dermatol 127:2499–2515
-
(2007)
J Invest Dermatol
, vol.127
, pp. 2499-2515
-
-
Green, K.J.1
Simpson, C.L.2
-
70
-
-
0025334747
-
Structure of the human desmoplakins. Implications for function in the desmosomal plaque
-
COI: 1:CAS:528:DyaK3cXkvFemtr4%3D, PID: 2391353
-
Green KJ, Parry DA, Steinert PM, Virata ML, Wagner RM, Angst BD, Nilles LA (1990) Structure of the human desmoplakins. Implications for function in the desmosomal plaque. J Biol Chem 265:11406–11407
-
(1990)
J Biol Chem
, vol.265
, pp. 11406-11407
-
-
Green, K.J.1
Parry, D.A.2
Steinert, P.M.3
Virata, M.L.4
Wagner, R.M.5
Angst, B.D.6
Nilles, L.A.7
-
71
-
-
0027096705
-
Structure of desmoplakin and its association with intermediate filaments
-
COI: 1:CAS:528:DyaK3sXitlWjtbo%3D, PID: 1293163
-
Green KJ, Stappenbeck TS, Parry DA, Virata ML (1992) Structure of desmoplakin and its association with intermediate filaments. J Dermatol 19:765–769
-
(1992)
J Dermatol
, vol.19
, pp. 765-769
-
-
Green, K.J.1
Stappenbeck, T.S.2
Parry, D.A.3
Virata, M.L.4
-
72
-
-
5444235947
-
Requirement of plakophilin 2 for heart morphogenesis and cardiac junction formation
-
COI: 1:CAS:528:DC%2BD2cXosVOhsr4%3D, PID: 15479741
-
Grossmann KS, Grund C, Huelsken J, Behrend M, Erdmann B, Franke WW, Birchmeier W (2004) Requirement of plakophilin 2 for heart morphogenesis and cardiac junction formation. J Cell Biol 167:149–160
-
(2004)
J Cell Biol
, vol.167
, pp. 149-160
-
-
Grossmann, K.S.1
Grund, C.2
Huelsken, J.3
Behrend, M.4
Erdmann, B.5
Franke, W.W.6
Birchmeier, W.7
-
73
-
-
0034092661
-
Dissociation of intra- and extracellular domains of desmosomal cadherins and E-cadherin in Hailey-Hailey disease and Darier’s disease
-
COI: 1:CAS:528:DC%2BD3cXjsVekurs%3D, PID: 10792220
-
Hakuno M, Shimizu H, Akiyama M, Amagai M, Wahl JK, Wheelock MJ, Nishikawa T (2000) Dissociation of intra- and extracellular domains of desmosomal cadherins and E-cadherin in Hailey-Hailey disease and Darier’s disease. Br J Dermatol 142:702–711
-
(2000)
Br J Dermatol
, vol.142
, pp. 702-711
-
-
Hakuno, M.1
Shimizu, H.2
Akiyama, M.3
Amagai, M.4
Wahl, J.K.5
Wheelock, M.J.6
Nishikawa, T.7
-
74
-
-
0036548393
-
Genotype-phenotype correlation in skin fragility-ectodermal dysplasia syndrome resulting from mutations in plakophilin 1
-
COI: 1:CAS:528:DC%2BD38XksFSqs74%3D, PID: 11994137
-
Hamada T, South AP, Mitsuhashi Y, Kinebuchi T, Bleck O, Ashton GH, Hozumi Y, Suzuki T, Hashimoto T, Eady RA, McGrath JA (2002) Genotype-phenotype correlation in skin fragility-ectodermal dysplasia syndrome resulting from mutations in plakophilin 1. Exp Dermatol 11:107–114
-
(2002)
Exp Dermatol
, vol.11
, pp. 107-114
-
-
Hamada, T.1
South, A.P.2
Mitsuhashi, Y.3
Kinebuchi, T.4
Bleck, O.5
Ashton, G.H.6
Hozumi, Y.7
Suzuki, T.8
Hashimoto, T.9
Eady, R.A.10
McGrath, J.A.11
-
75
-
-
0028069962
-
Immunohistochemical distribution of CD44 and desmoplakin I & II in Hailey-Hailey’s disease and Darier’s disease
-
COI: 1:STN:280:DyaK2czkt1Grsw%3D%3D, PID: 7520458
-
Harada M, Hashimoto K, Fujiwara K (1994) Immunohistochemical distribution of CD44 and desmoplakin I & II in Hailey-Hailey’s disease and Darier’s disease. J Dermatol 21:389–393
-
(1994)
J Dermatol
, vol.21
, pp. 389-393
-
-
Harada, M.1
Hashimoto, K.2
Fujiwara, K.3
-
76
-
-
12844250739
-
Desmosomal cadherin misexpression alters beta-catenin stability and epidermal differentiation
-
COI: 1:CAS:528:DC%2BD2MXptFyrsA%3D%3D, PID: 15657425
-
Hardman MJ, Liu K, Avilion AA, Merritt A, Brennan K, Garrod DR, Byrne C (2005) Desmosomal cadherin misexpression alters beta-catenin stability and epidermal differentiation. Mol Cell Biol 25:969–978
-
(2005)
Mol Cell Biol
, vol.25
, pp. 969-978
-
-
Hardman, M.J.1
Liu, K.2
Avilion, A.A.3
Merritt, A.4
Brennan, K.5
Garrod, D.R.6
Byrne, C.7
-
77
-
-
84875825028
-
Desmoglein-1/Erbin interaction suppresses ERK activation to support epidermal differentiation
-
COI: 1:CAS:528:DC%2BC3sXlvVKhsLg%3D, PID: 23524970
-
Harmon RM, Simpson CL, Johnson JL, Koetsier JL, Dubash AD, Najor NA, Sarig O, Sprecher E, Green KJ (2013) Desmoglein-1/Erbin interaction suppresses ERK activation to support epidermal differentiation. J Clin Invest 123:1556–1570
-
(2013)
J Clin Invest
, vol.123
, pp. 1556-1570
-
-
Harmon, R.M.1
Simpson, C.L.2
Johnson, J.L.3
Koetsier, J.L.4
Dubash, A.D.5
Najor, N.A.6
Sarig, O.7
Sprecher, E.8
Green, K.J.9
-
78
-
-
84930274675
-
Loss of desmoglein 1 associated with palmoplantar keratoderma, dermatitis and multiple allergies
-
Has C, Jakob T, He Y, Kiritsi D, Hausser I, Bruckner-Tuderman L (2014) Loss of desmoglein 1 associated with palmoplantar keratoderma, dermatitis and multiple allergies. Br J Dermatol 134:808–815
-
(2014)
Br J Dermatol
, vol.134
, pp. 808-815
-
-
Has, C.1
Jakob, T.2
He, Y.3
Kiritsi, D.4
Hausser, I.5
Bruckner-Tuderman, L.6
-
79
-
-
84865350066
-
Atypical pemphigus with exclusively anti-desmocollin 3-specific IgG antibodies
-
PID: 22735276
-
Hatano Y, Hashimoto T, Fukuda S, Ishikawa K, Goto M, Kai Y, Takeo N, Okamoto O, Fujiwara S (2012) Atypical pemphigus with exclusively anti-desmocollin 3-specific IgG antibodies. Eur J Dermatol 22:560–562
-
(2012)
Eur J Dermatol
, vol.22
, pp. 560-562
-
-
Hatano, Y.1
Hashimoto, T.2
Fukuda, S.3
Ishikawa, K.4
Goto, M.5
Kai, Y.6
Takeo, N.7
Okamoto, O.8
Fujiwara, S.9
-
80
-
-
0035203509
-
Deconstructing desmoplakin
-
COI: 1:CAS:528:DC%2BD3MXpt1Ggurs%3D, PID: 11781580
-
Hatsell S, Cowin P (2001) Deconstructing desmoplakin. Nat Cell Biol 3:E270–E272
-
(2001)
Nat Cell Biol
, vol.3
, pp. E270-E272
-
-
Hatsell, S.1
Cowin, P.2
-
81
-
-
0034599841
-
The function of plakophilin 1 in desmosome assembly and actin filament organization
-
COI: 1:CAS:528:DC%2BD3cXitlWrtLo%3D, PID: 10747098
-
Hatzfeld M, Haffner C, Schulze K, Vinzens U (2000) The function of plakophilin 1 in desmosome assembly and actin filament organization. J Cell Biol 149:209–222
-
(2000)
J Cell Biol
, vol.149
, pp. 209-222
-
-
Hatzfeld, M.1
Haffner, C.2
Schulze, K.3
Vinzens, U.4
-
82
-
-
84884853681
-
Ectodermal dysplasia-skin fragility syndrome: a novel mutation in the PKP1 gene
-
COI: 1:STN:280:DC%2BC2c%2Fit1WlsQ%3D%3D, PID: 24073657
-
Hernandez-Martin A, Torrelo A, Ciria S, Colmenero I, Aguilar A, Grimalt R, Gonzalez-Sarmiento R (2013) Ectodermal dysplasia-skin fragility syndrome: a novel mutation in the PKP1 gene. Clin Exp Dermatol 38:787–790
-
(2013)
Clin Exp Dermatol
, vol.38
, pp. 787-790
-
-
Hernandez-Martin, A.1
Torrelo, A.2
Ciria, S.3
Colmenero, I.4
Aguilar, A.5
Grimalt, R.6
Gonzalez-Sarmiento, R.7
-
83
-
-
58549110226
-
Novel mutations in DSG1 causing striate palmoplantar keratoderma
-
COI: 1:STN:280:DC%2BD1M7ht12jtQ%3D%3D, PID: 19018793
-
Hershkovitz D, Lugassy J, Indelman M, Bergman R, Sprecher E (2009) Novel mutations in DSG1 causing striate palmoplantar keratoderma. Clin Exp Dermatol 34:224–228
-
(2009)
Clin Exp Dermatol
, vol.34
, pp. 224-228
-
-
Hershkovitz, D.1
Lugassy, J.2
Indelman, M.3
Bergman, R.4
Sprecher, E.5
-
84
-
-
33845229562
-
Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy
-
COI: 1:CAS:528:DC%2BD28Xht1yksr%2FO, PID: 17186466
-
Heuser A, Plovie ER, Ellinor PT, Grossmann KS, Shin JT, Wichter T, Basson CT, Lerman BB, Sasse-Klaassen S, Thierfelder L, MacRae CA, Gerull B (2006) Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy. Am J Hum Genet 79:1081–1088
-
(2006)
Am J Hum Genet
, vol.79
, pp. 1081-1088
-
-
Heuser, A.1
Plovie, E.R.2
Ellinor, P.T.3
Grossmann, K.S.4
Shin, J.T.5
Wichter, T.6
Basson, C.T.7
Lerman, B.B.8
Sasse-Klaassen, S.9
Thierfelder, L.10
MacRae, C.A.11
Gerull, B.12
-
85
-
-
84855945224
-
Desmoplakin regulates desmosome hyperadhesion
-
COI: 1:CAS:528:DC%2BC3MXhtlWltbfL, PID: 21993560
-
Hobbs RP, Green KJ (2012) Desmoplakin regulates desmosome hyperadhesion. J Invest Dermatol 132:482–485
-
(2012)
J Invest Dermatol
, vol.132
, pp. 482-485
-
-
Hobbs, R.P.1
Green, K.J.2
-
86
-
-
77957961200
-
Insights from a desmoplakin mutation identified in lethal acantholytic epidermolysis bullosa
-
Hobbs RP, Han SY, Zwaag PA van der, Bolling MC, Jongbloed JD, Jonkman MF, Getsios S, Paller AS, Green KJ (2010) Insights from a desmoplakin mutation identified in lethal acantholytic epidermolysis bullosa. J Invest Dermatol 130:2680–2683
-
(2010)
J Invest Dermatol
, vol.130
, pp. 2680-2683
-
-
Hobbs, R.P.1
Han, S.Y.2
Zwaag, P.A.3
Bolling, M.C.4
Jongbloed, J.D.5
Jonkman, M.F.6
Getsios, S.7
Paller, A.S.8
Green, K.J.9
-
87
-
-
79954588646
-
The calcium ATPase SERCA2 regulates desmoplakin dynamics and intercellular adhesive strength through modulation of PKC&α; signaling
-
COI: 1:CAS:528:DC%2BC3MXivF2ltr4%3D, PID: 21156808
-
Hobbs RP, Amargo EV, Somasundaram A, Simpson CL, Prakriya M, Denning MF, Green KJ (2011) The calcium ATPase SERCA2 regulates desmoplakin dynamics and intercellular adhesive strength through modulation of PKC&α; signaling. FASEB J 25:990–1001
-
(2011)
FASEB J
, vol.25
, pp. 990-1001
-
-
Hobbs, R.P.1
Amargo, E.V.2
Somasundaram, A.3
Simpson, C.L.4
Prakriya, M.5
Denning, M.F.6
Green, K.J.7
-
89
-
-
34249079463
-
A keratinocyte’s course of life
-
COI: 1:STN:280:DC%2BD2s3ps1Ogsg%3D%3D, PID: 17191035
-
Houben E, De Paepe K, Rogiers V (2007) A keratinocyte’s course of life. Skin Pharmacol Physiol 20:122–132
-
(2007)
Skin Pharmacol Physiol
, vol.20
, pp. 122-132
-
-
Houben, E.1
De Paepe, K.2
Rogiers, V.3
-
90
-
-
84891415326
-
Netherton syndrome: skin inflammation and allergy by loss of protease inhibition
-
COI: 1:CAS:528:DC%2BC3sXitVOjsLc%3D, PID: 23344365
-
Hovnanian A (2013) Netherton syndrome: skin inflammation and allergy by loss of protease inhibition. Cell Tissue Res 351:289–300
-
(2013)
Cell Tissue Res
, vol.351
, pp. 289-300
-
-
Hovnanian, A.1
-
91
-
-
0033986288
-
Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease
-
COI: 1:CAS:528:DC%2BD3cXks1emtQ%3D%3D, PID: 10615129
-
Hu Z, Bonifas JM, Beech J, Bench G, Shigihara T, Ogawa H, Ikeda S, Mauro T, Epstein EH Jr (2000) Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease. Nat Genet 24:61–65
-
(2000)
Nat Genet
, vol.24
, pp. 61-65
-
-
Hu, Z.1
Bonifas, J.M.2
Beech, J.3
Bench, G.4
Shigihara, T.5
Ogawa, H.6
Ikeda, S.7
Mauro, T.8
Epstein, E.H.9
-
92
-
-
84866746103
-
Zhonghua yi xue yi chuan xue za zhi [Clinical investigation of a Chinese family with hypotrichosis simplex of the scalp and mutational analysis of CDSN gene]
-
COI: 1:CAS:528:DC%2BC38XhslGnu7fL
-
Huang XS, Jiang HO, Quan QL (2012) Zhonghua yi xue yi chuan xue za zhi [Clinical investigation of a Chinese family with hypotrichosis simplex of the scalp and mutational analysis of CDSN gene]. Chin J Med Genet 29:452–454
-
(2012)
Chin J Med Genet
, vol.29
, pp. 452-454
-
-
Huang, X.S.1
Jiang, H.O.2
Quan, Q.L.3
-
93
-
-
0035086720
-
Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma
-
COI: 1:CAS:528:DC%2BD3MXis1Ohsb0%3D, PID: 11313759
-
Hunt DM, Rickman L, Whittock NV, Eady RA, Simrak D, Dopping-Hepenstal PJ, Stevens HP, Armstrong DK, Hennies HC, Kuster W, Hughes AE, Arnemann J, Leigh IM, McGrath JA, Kelsell DP, Buxton RS (2001) Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma. Eur J Hum Genet 9:197–203
-
(2001)
Eur J Hum Genet
, vol.9
, pp. 197-203
-
-
Hunt, D.M.1
Rickman, L.2
Whittock, N.V.3
Eady, R.A.4
Simrak, D.5
Dopping-Hepenstal, P.J.6
Stevens, H.P.7
Armstrong, D.K.8
Hennies, H.C.9
Kuster, W.10
Hughes, A.E.11
Arnemann, J.12
Leigh, I.M.13
McGrath, J.A.14
Kelsell, D.P.15
Buxton, R.S.16
-
94
-
-
4544301463
-
Cathepsin D, but not cathepsin E, degrades desmosomes during epidermal desquamation
-
COI: 1:CAS:528:DC%2BD2cXoslGlu7k%3D, PID: 15327542
-
Igarashi S, Takizawa T, Yasuda Y, Uchiwa H, Hayashi S, Brysk H, Robinson JM, Yamamoto K, Brysk MM, Horikoshi T (2004) Cathepsin D, but not cathepsin E, degrades desmosomes during epidermal desquamation. Br J Dermatol 151:355–361
-
(2004)
Br J Dermatol
, vol.151
, pp. 355-361
-
-
Igarashi, S.1
Takizawa, T.2
Yasuda, Y.3
Uchiwa, H.4
Hayashi, S.5
Brysk, H.6
Robinson, J.M.7
Yamamoto, K.8
Brysk, M.M.9
Horikoshi, T.10
-
95
-
-
79959374277
-
Order and disorder in corneocyte adhesion
-
PID: 21545505
-
Ishida-Yamamoto A, Igawa S, Kishibe M (2011) Order and disorder in corneocyte adhesion. J Dermatol 38:645–654
-
(2011)
J Dermatol
, vol.38
, pp. 645-654
-
-
Ishida-Yamamoto, A.1
Igawa, S.2
Kishibe, M.3
-
96
-
-
84891369484
-
Inflammatory peeling skin syndrome caused by homozygous genomic deletion in the PSORS1 region encompassing the CDSN gene
-
COI: 1:CAS:528:DC%2BC2cXisFyisw%3D%3D, PID: 24372652
-
Ishida-Yamamoto A, Furio L, Igawa S, Honma M, Tron E, Malan V, Murakami M, Hovnanian A (2014) Inflammatory peeling skin syndrome caused by homozygous genomic deletion in the PSORS1 region encompassing the CDSN gene. Exp Dermatol 23:60–63
-
(2014)
Exp Dermatol
, vol.23
, pp. 60-63
-
-
Ishida-Yamamoto, A.1
Furio, L.2
Igawa, S.3
Honma, M.4
Tron, E.5
Malan, V.6
Murakami, M.7
Hovnanian, A.8
-
97
-
-
0034940633
-
Assembly of desmosomal cadherins into desmosomes is isoform dependent
-
COI: 1:CAS:528:DC%2BD3MXlsFagtrc%3D, PID: 11442746
-
Ishii K, Norvell SM, Bannon LJ, Amargo EV, Pascoe LT, Green KJ (2001) Assembly of desmosomal cadherins into desmosomes is isoform dependent. J Invest Dermatol 117:26–35
-
(2001)
J Invest Dermatol
, vol.117
, pp. 26-35
-
-
Ishii, K.1
Norvell, S.M.2
Bannon, L.J.3
Amargo, E.V.4
Pascoe, L.T.5
Green, K.J.6
-
98
-
-
79951497066
-
Inflammatory peeling skin syndrome caused by a mutation in CDSN encoding corneodesmosin
-
COI: 1:CAS:528:DC%2BC3MXhslWksLs%3D, PID: 21191406
-
Israeli S, Zamir H, Sarig O, Bergman R, Sprecher E (2011) Inflammatory peeling skin syndrome caused by a mutation in CDSN encoding corneodesmosin. J Invest Dermatol 131:779–781
-
(2011)
J Invest Dermatol
, vol.131
, pp. 779-781
-
-
Israeli, S.1
Zamir, H.2
Sarig, O.3
Bergman, R.4
Sprecher, E.5
-
99
-
-
0024986411
-
Pathogenesis of monilethrix: computer stereography and electron microscopy
-
COI: 1:STN:280:DyaK3czjvVyjsw%3D%3D, PID: 2380577
-
Ito M, Hashimoto K, Katsuumi K, Sato Y (1990) Pathogenesis of monilethrix: computer stereography and electron microscopy. J Invest Dermatol 95:186–194
-
(1990)
J Invest Dermatol
, vol.95
, pp. 186-194
-
-
Ito, M.1
Hashimoto, K.2
Katsuumi, K.3
Sato, Y.4
-
100
-
-
33748418037
-
Recurrent intragenic deletion mutation in desmoglein 4 gene underlies autosomal recessive hypotrichosis in two Pakistani families of Balochi and Sindhi origins
-
PID: 16770573
-
John P, Tariq M, Arshad Rafiq M, Amin-Ud-Din M, Muhammad D, Waheed I, Ansar M, Ahmad W (2006) Recurrent intragenic deletion mutation in desmoglein 4 gene underlies autosomal recessive hypotrichosis in two Pakistani families of Balochi and Sindhi origins. Arch Dermatol Res 298:135–137
-
(2006)
Arch Dermatol Res
, vol.298
, pp. 135-137
-
-
John, P.1
Tariq, M.2
Arshad Rafiq, M.3
Amin-Ud-Din, M.4
Muhammad, D.5
Waheed, I.6
Ansar, M.7
Ahmad, W.8
-
101
-
-
0037085257
-
Corneodesmosin, a component of epidermal corneocyte desmosomes, displays homophilic adhesive properties
-
COI: 1:CAS:528:DC%2BD38XhsFequ7w%3D, PID: 11739386
-
Jonca N, Guerrin M, Hadjiolova K, Caubet C, Gallinaro H, Simon M, Serre G (2002) Corneodesmosin, a component of epidermal corneocyte desmosomes, displays homophilic adhesive properties. J Biol Chem 277:5024–5029
-
(2002)
J Biol Chem
, vol.277
, pp. 5024-5029
-
-
Jonca, N.1
Guerrin, M.2
Hadjiolova, K.3
Caubet, C.4
Gallinaro, H.5
Simon, M.6
Serre, G.7
-
102
-
-
25444463595
-
Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa
-
Jonkman MF, Pasmooij AM, Pasmans SG, Berg MP van den, Ter Horst HJ, Timmer A, Pas HH (2005) Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa. Am J Hum Genet 77:653–660
-
(2005)
Am J Hum Genet
, vol.77
, pp. 653-660
-
-
Jonkman, M.F.1
Pasmooij, A.M.2
Pasmans, S.G.3
Berg, M.P.4
Ter Horst, H.J.5
Timmer, A.6
Pas, H.H.7
-
103
-
-
84866297939
-
De novo heterozygous desmoplakin mutations leading to Naxos-Carvajal disease
-
PID: 22949226
-
Keller DI, Stepowski D, Balmer C, Simon F, Guenthard J, Bauer F, Itin P, David N, Drouin-Garraud V, Fressart V (2012) De novo heterozygous desmoplakin mutations leading to Naxos-Carvajal disease. Swiss Med Wkly 142:w13670
-
(2012)
Swiss Med Wkly
, vol.142
, pp. w13670
-
-
Keller, D.I.1
Stepowski, D.2
Balmer, C.3
Simon, F.4
Guenthard, J.5
Bauer, F.6
Itin, P.7
David, N.8
Drouin-Garraud, V.9
Fressart, V.10
-
104
-
-
18544367683
-
Diffuse nonepidermolytic palmoplantar keratoderma caused by a recurrent nonsense mutation in DSG1
-
COI: 1:CAS:528:DC%2BD2MXkvVWksr0%3D, PID: 15897387
-
Keren H, Bergman R, Mizrachi M, Kashi Y, Sprecher E (2005) Diffuse nonepidermolytic palmoplantar keratoderma caused by a recurrent nonsense mutation in DSG1. Arch Dermatol 141:625–628
-
(2005)
Arch Dermatol
, vol.141
, pp. 625-628
-
-
Keren, H.1
Bergman, R.2
Mizrachi, M.3
Kashi, Y.4
Sprecher, E.5
-
105
-
-
0026636063
-
Leukonychia longitudinalis as the primary symptom of Hailey-Hailey disease
-
COI: 1:STN:280:DyaK38znt1eltQ%3D%3D, PID: 1506206
-
Kirtschig G, Effendy I, Happle R (1992) Leukonychia longitudinalis as the primary symptom of Hailey-Hailey disease. Hautarzt 43:451–452
-
(1992)
Hautarzt
, vol.43
, pp. 451-452
-
-
Kirtschig, G.1
Effendy, I.2
Happle, R.3
-
106
-
-
0037453717
-
Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris
-
COI: 1:CAS:528:DC%2BD3sXjtlOqsLo%3D, PID: 12705872
-
Kljuic A, Bazzi H, Sundberg JP, Martinez-Mir A, O’Shaughnessy R, Mahoney MG, Levy M, Montagutelli X, Ahmad W, Aita VM, Gordon D, Uitto J, Whiting D, Ott J, Fischer S, Gilliam TC, Jahoda CA, Morris RJ, Panteleyev AA, Nguyen VT, Christiano AM (2003a) Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris. Cell 113:249–260
-
(2003)
Cell
, vol.113
, pp. 249-260
-
-
Kljuic, A.1
Bazzi, H.2
Sundberg, J.P.3
Martinez-Mir, A.4
O’Shaughnessy, R.5
Mahoney, M.G.6
Levy, M.7
Montagutelli, X.8
Ahmad, W.9
Aita, V.M.10
Gordon, D.11
Uitto, J.12
Whiting, D.13
Ott, J.14
Fischer, S.15
Gilliam, T.C.16
Jahoda, C.A.17
Morris, R.J.18
Panteleyev, A.A.19
Nguyen, V.T.20
Christiano, A.M.21
more..
-
107
-
-
0003205553
-
A nonsense mutation in the desmoglein 1 gene underlies striate keratoderma
-
COI: 1:CAS:528:DC%2BD3sXmvFymt7o%3D, PID: 12930313
-
Kljuic A, Gilead L, Martinez-Mir A, Frank J, Christiano AM, Zlotogorski A (2003b) A nonsense mutation in the desmoglein 1 gene underlies striate keratoderma. Exp Dermatol 12:523–527
-
(2003)
Exp Dermatol
, vol.12
, pp. 523-527
-
-
Kljuic, A.1
Gilead, L.2
Martinez-Mir, A.3
Frank, J.4
Christiano, A.M.5
Zlotogorski, A.6
-
108
-
-
0030902370
-
Targeted disruption of the pemphigus vulgaris antigen (desmoglein 3) gene in mice causes loss of keratinocyte cell adhesion with a phenotype similar to pemphigus vulgaris
-
COI: 1:CAS:528:DyaK2sXjsF2murY%3D, PID: 9166409
-
Koch PJ, Mahoney MG, Ishikawa H, Pulkkinen L, Uitto J, Shultz L, Murphy GF, Whitaker-Menezes D, Stanley JR (1997) Targeted disruption of the pemphigus vulgaris antigen (desmoglein 3) gene in mice causes loss of keratinocyte cell adhesion with a phenotype similar to pemphigus vulgaris. J Cell Biol 137:1091–1102
-
(1997)
J Cell Biol
, vol.137
, pp. 1091-1102
-
-
Koch, P.J.1
Mahoney, M.G.2
Ishikawa, H.3
Pulkkinen, L.4
Uitto, J.5
Shultz, L.6
Murphy, G.F.7
Whitaker-Menezes, D.8
Stanley, J.R.9
-
109
-
-
33748776280
-
Elevated human tissue kallikrein levels in the stratum corneum and serum of peeling skin syndrome-type B patients suggests an over-desquamation of corneocytes
-
COI: 1:CAS:528:DC%2BD28Xps1aisb8%3D, PID: 16778802
-
Komatsu N, Suga Y, Saijoh K, Liu AC, Khan S, Mizuno Y, Ikeda S, Wu HK, Jayakumar A, Clayman GL, Shirasaki F, Takehara K, Diamandis EP (2006) Elevated human tissue kallikrein levels in the stratum corneum and serum of peeling skin syndrome-type B patients suggests an over-desquamation of corneocytes. J Invest Dermatol 126:2338–2342
-
(2006)
J Invest Dermatol
, vol.126
, pp. 2338-2342
-
-
Komatsu, N.1
Suga, Y.2
Saijoh, K.3
Liu, A.C.4
Khan, S.5
Mizuno, Y.6
Ikeda, S.7
Wu, H.K.8
Jayakumar, A.9
Clayman, G.L.10
Shirasaki, F.11
Takehara, K.12
Diamandis, E.P.13
-
110
-
-
33847623675
-
p63 induces key target genes required for epidermal morphogenesis
-
COI: 1:CAS:528:DC%2BD2sXjtVWlsbY%3D, PID: 17360634
-
Koster MI, Dai D, Marinari B, Sano Y, Costanzo A, Karin M, Roop DR (2007) p63 induces key target genes required for epidermal morphogenesis. Proc Natl Acad Sci U S A 104:3255–3260
-
(2007)
Proc Natl Acad Sci U S A
, vol.104
, pp. 3255-3260
-
-
Koster, M.I.1
Dai, D.2
Marinari, B.3
Sano, Y.4
Costanzo, A.5
Karin, M.6
Roop, D.R.7
-
111
-
-
0030699073
-
The amino-terminal domain of desmoplakin binds to plakoglobin and clusters desmosomal cadherin-plakoglobin complexes
-
COI: 1:CAS:528:DyaK2sXnt1aisrc%3D, PID: 9348293
-
Kowalczyk AP, Bornslaeger EA, Borgwardt JE, Palka HL, Dhaliwal AS, Corcoran CM, Denning MF, Green KJ (1997) The amino-terminal domain of desmoplakin binds to plakoglobin and clusters desmosomal cadherin-plakoglobin complexes. J Cell Biol 139:773–784
-
(1997)
J Cell Biol
, vol.139
, pp. 773-784
-
-
Kowalczyk, A.P.1
Bornslaeger, E.A.2
Borgwardt, J.E.3
Palka, H.L.4
Dhaliwal, A.S.5
Corcoran, C.M.6
Denning, M.F.7
Green, K.J.8
-
112
-
-
0033603436
-
The head domain of plakophilin-1 binds to desmoplakin and enhances its recruitment to desmosomes. Implications for cutaneous disease
-
COI: 1:CAS:528:DyaK1MXktF2rt7Y%3D, PID: 10373410
-
Kowalczyk AP, Hatzfeld M, Bornslaeger EA, Kopp DS, Borgwardt JE, Corcoran CM, Settler A, Green KJ (1999) The head domain of plakophilin-1 binds to desmoplakin and enhances its recruitment to desmosomes. Implications for cutaneous disease. J Biol Chem 274:18145–18148
-
(1999)
J Biol Chem
, vol.274
, pp. 18145-18148
-
-
Kowalczyk, A.P.1
Hatzfeld, M.2
Bornslaeger, E.A.3
Kopp, D.S.4
Borgwardt, J.E.5
Corcoran, C.M.6
Settler, A.7
Green, K.J.8
-
113
-
-
81255128256
-
SOX4 interacts with plakoglobin in a Wnt3a-dependent manner in prostate cancer cells
-
COI: 1:CAS:528:DC%2BC38XltFaitg%3D%3D, PID: 22098624
-
Lai YH, Cheng J, Cheng D, Feasel ME, Beste KD, Peng J, Nusrat A, Moreno CS (2011) SOX4 interacts with plakoglobin in a Wnt3a-dependent manner in prostate cancer cells. BMC Cell Biol 12:50
-
(2011)
BMC Cell Biol
, vol.12
, pp. 50
-
-
Lai, Y.H.1
Cheng, J.2
Cheng, D.3
Feasel, M.E.4
Beste, K.D.5
Peng, J.6
Nusrat, A.7
Moreno, C.S.8
-
114
-
-
69549096268
-
Corneodesmosin gene ablation induces lethal skin-barrier disruption and hair-follicle degeneration related to desmosome dysfunction
-
COI: 1:CAS:528:DC%2BD1MXhtVGhsLzN, PID: 19596793
-
Leclerc EA, Huchenq A, Mattiuzzo NR, Metzger D, Chambon P, Ghyselinck NB, Serre G, Jonca N, Guerrin M (2009) Corneodesmosin gene ablation induces lethal skin-barrier disruption and hair-follicle degeneration related to desmosome dysfunction. J Cell Sci 122:2699–2709
-
(2009)
J Cell Sci
, vol.122
, pp. 2699-2709
-
-
Leclerc, E.A.1
Huchenq, A.2
Mattiuzzo, N.R.3
Metzger, D.4
Chambon, P.5
Ghyselinck, N.B.6
Serre, G.7
Jonca, N.8
Guerrin, M.9
-
115
-
-
0037941582
-
Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin
-
COI: 1:CAS:528:DC%2BD3sXktFSlt7s%3D, PID: 12754508
-
Levy-Nissenbaum E, Betz RC, Frydman M, Simon M, Lahat H, Bakhan T, Goldman B, Bygum A, Pierick M, Hillmer AM, Jonca N, Toribio J, Kruse R, Dewald G, Cichon S, Kubisch C, Guerrin M, Serre G, Nothen MM, Pras E (2003) Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin. Nat Genet 34:151–153
-
(2003)
Nat Genet
, vol.34
, pp. 151-153
-
-
Levy-Nissenbaum, E.1
Betz, R.C.2
Frydman, M.3
Simon, M.4
Lahat, H.5
Bakhan, T.6
Goldman, B.7
Bygum, A.8
Pierick, M.9
Hillmer, A.M.10
Jonca, N.11
Toribio, J.12
Kruse, R.13
Dewald, G.14
Cichon, S.15
Kubisch, C.16
Guerrin, M.17
Serre, G.18
Nothen, M.M.19
Pras, E.20
more..
-
116
-
-
84858951977
-
Lack of plakoglobin in epidermis leads to keratoderma
-
COI: 1:CAS:528:DC%2BC38XktlKrsLo%3D, PID: 22315228
-
Li D, Zhang W, Liu Y, Haneline LS, Shou W (2012) Lack of plakoglobin in epidermis leads to keratoderma. J Biol Chem 287:10435–10443
-
(2012)
J Biol Chem
, vol.287
, pp. 10435-10443
-
-
Li, D.1
Zhang, W.2
Liu, Y.3
Haneline, L.S.4
Shou, W.5
-
118
-
-
0028525019
-
Cloning, sequence analysis and expression pattern of mouse desmocollin 2 (DSC2), a cadherin-like adhesion molecule
-
COI: 1:CAS:528:DyaK2MXjt1OksL4%3D, PID: 7711832
-
Lorimer JE, Hall LS, Clarke JP, Collins JE, Fleming TP, Garrod DR (1994) Cloning, sequence analysis and expression pattern of mouse desmocollin 2 (DSC2), a cadherin-like adhesion molecule. Mol Membr Biol 11:229–236
-
(1994)
Mol Membr Biol
, vol.11
, pp. 229-236
-
-
Lorimer, J.E.1
Hall, L.S.2
Clarke, J.P.3
Collins, J.E.4
Fleming, T.P.5
Garrod, D.R.6
-
119
-
-
0027991839
-
Evidence for a role of corneodesmosin, a protein which may serve to modify desmosomes during cornification, in stratum corneum cell cohesion and desquamation
-
COI: 1:STN:280:DyaK2M7hvVSktg%3D%3D, PID: 7818278
-
Lundstrom A, Serre G, Haftek M, Egelrud T (1994) Evidence for a role of corneodesmosin, a protein which may serve to modify desmosomes during cornification, in stratum corneum cell cohesion and desquamation. Arch Dermatol Res 286:369–375
-
(1994)
Arch Dermatol Res
, vol.286
, pp. 369-375
-
-
Lundstrom, A.1
Serre, G.2
Haftek, M.3
Egelrud, T.4
-
120
-
-
1342343924
-
Plakoglobin (gamma-catenin) has TCF/LEF family-dependent transcriptional activity in beta-catenin-deficient cell line
-
COI: 1:CAS:528:DC%2BD2cXntlelsA%3D%3D, PID: 14661054
-
Maeda O, Usami N, Kondo M, Takahashi M, Goto H, Shimokata K, Kusugami K, Sekido Y (2004) Plakoglobin (gamma-catenin) has TCF/LEF family-dependent transcriptional activity in beta-catenin-deficient cell line. Oncogene 23:964–972
-
(2004)
Oncogene
, vol.23
, pp. 964-972
-
-
Maeda, O.1
Usami, N.2
Kondo, M.3
Takahashi, M.4
Goto, H.5
Shimokata, K.6
Kusugami, K.7
Sekido, Y.8
-
121
-
-
84889037334
-
Identification of the first nonsense CDSN mutation with expression of a truncated protein causing peeling skin syndrome type B
-
COI: 1:CAS:528:DC%2BC3sXhvVOisbvI, PID: 23957618
-
Mallet A, Kypriotou M, George K, Leclerc E, Rivero D, Mazereeuw-Hautier J, Serre G, Huber M, Jonca N, Hohl D (2013) Identification of the first nonsense CDSN mutation with expression of a truncated protein causing peeling skin syndrome type B. Br J Dermatol 169:1322–1325
-
(2013)
Br J Dermatol
, vol.169
, pp. 1322-1325
-
-
Mallet, A.1
Kypriotou, M.2
George, K.3
Leclerc, E.4
Rivero, D.5
Mazereeuw-Hautier, J.6
Serre, G.7
Huber, M.8
Jonca, N.9
Hohl, D.10
-
122
-
-
78650228127
-
Autoimmunity to desmocollin 3 in pemphigus vulgaris
-
COI: 1:CAS:528:DC%2BC3MXis1GksQ%3D%3D, PID: 20952584
-
Mao X, Nagler AR, Farber SA, Choi EJ, Jackson LH, Leiferman KM, Ishii N, Hashimoto T, Amagai M, Zone JJ, Payne AS (2010) Autoimmunity to desmocollin 3 in pemphigus vulgaris. Am J Pathol 177:2724–2730
-
(2010)
Am J Pathol
, vol.177
, pp. 2724-2730
-
-
Mao, X.1
Nagler, A.R.2
Farber, S.A.3
Choi, E.J.4
Jackson, L.H.5
Leiferman, K.M.6
Ishii, N.7
Hashimoto, T.8
Amagai, M.9
Zone, J.J.10
Payne, A.S.11
-
123
-
-
44349112225
-
Targeted deletion of the murine corneodesmosin gene delineates its essential role in skin and hair physiology
-
COI: 1:CAS:528:DC%2BD1cXmtVymsr0%3D, PID: 18436651
-
Matsumoto M, Zhou Y, Matsuo S, Nakanishi H, Hirose K, Oura H, Arase S, Ishida-Yamamoto A, Bando Y, Izumi K, Kiyonari H, Oshima N, Nakayama R, Matsushima A, Hirota F, Mouri Y, Kuroda N, Sano S, Chaplin DD (2008) Targeted deletion of the murine corneodesmosin gene delineates its essential role in skin and hair physiology. Proc Natl Acad Sci U S A 105:6720–6724
-
(2008)
Proc Natl Acad Sci U S A
, vol.105
, pp. 6720-6724
-
-
Matsumoto, M.1
Zhou, Y.2
Matsuo, S.3
Nakanishi, H.4
Hirose, K.5
Oura, H.6
Arase, S.7
Ishida-Yamamoto, A.8
Bando, Y.9
Izumi, K.10
Kiyonari, H.11
Oshima, N.12
Nakayama, R.13
Matsushima, A.14
Hirota, F.15
Mouri, Y.16
Kuroda, N.17
Sano, S.18
Chaplin, D.D.19
-
124
-
-
17644376881
-
Effects of ultraviolet B irradiation, proinflammatory cytokines and raised extracellular calcium concentration on the expression of ATP2A2 and ATP2C1
-
COI: 1:CAS:528:DC%2BD2MXksFyms74%3D, PID: 15840101
-
Mayuzumi N, Ikeda S, Kawada H, Fan PS, Ogawa H (2005) Effects of ultraviolet B irradiation, proinflammatory cytokines and raised extracellular calcium concentration on the expression of ATP2A2 and ATP2C1. Br J Dermatol 152:697–701
-
(2005)
Br J Dermatol
, vol.152
, pp. 697-701
-
-
Mayuzumi, N.1
Ikeda, S.2
Kawada, H.3
Fan, P.S.4
Ogawa, H.5
-
125
-
-
84984774604
-
Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome
-
COI: 1:CAS:528:DyaK2sXmsFantb0%3D, PID: 9326952
-
McGrath JA, McMillan JR, Shemanko CS, Runswick SK, Leigh IM, Lane EB, Garrod DR, Eady RA (1997) Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome. Nat Genet 17:240–244
-
(1997)
Nat Genet
, vol.17
, pp. 240-244
-
-
McGrath, J.A.1
McMillan, J.R.2
Shemanko, C.S.3
Runswick, S.K.4
Leigh, I.M.5
Lane, E.B.6
Garrod, D.R.7
Eady, R.A.8
-
126
-
-
0034679297
-
Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease)
-
COI: 1:CAS:528:DC%2BD3cXkvVWjtrg%3D, PID: 10902626
-
McKoy G, Protonotarios N, Crosby A, Tsatsopoulou A, Anastasakis A, Coonar A, Norman M, Baboonian C, Jeffery S, McKenna WJ (2000) Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet 355:2119–2124
-
(2000)
Lancet
, vol.355
, pp. 2119-2124
-
-
McKoy, G.1
Protonotarios, N.2
Crosby, A.3
Tsatsopoulou, A.4
Anastasakis, A.5
Coonar, A.6
Norman, M.7
Baboonian, C.8
Jeffery, S.9
McKenna, W.J.10
-
127
-
-
0000771317
-
WOLOSHIN AA: Darier’s disease. An evaluation of its neuropsychiatric component
-
COI: 1:STN:280:DyaF3c%2FovVygtg%3D%3D, PID: 13768820
-
Medansky RS (1961) WOLOSHIN AA: Darier’s disease. An evaluation of its neuropsychiatric component. Arch Dermatol 84:482–484
-
(1961)
Arch Dermatol
, vol.84
, pp. 482-484
-
-
Medansky, R.S.1
-
128
-
-
0030856050
-
Two-hybrid analysis reveals fundamental differences in direct interactions between desmoplakin and cell type-specific intermediate filaments
-
COI: 1:CAS:528:DyaK2sXls1Oisr4%3D, PID: 9261168
-
Meng JJ, Bornslaeger EA, Green KJ, Steinert PM, Ip W (1997) Two-hybrid analysis reveals fundamental differences in direct interactions between desmoplakin and cell type-specific intermediate filaments. J Biol Chem 272:21495–21503
-
(1997)
J Biol Chem
, vol.272
, pp. 21495-21503
-
-
Meng, J.J.1
Bornslaeger, E.A.2
Green, K.J.3
Steinert, P.M.4
Ip, W.5
-
129
-
-
84864288846
-
The structure and function of the stratum corneum
-
COI: 1:CAS:528:DC%2BC38XpsVSqt7Y%3D, PID: 22705878
-
Menon GK, Cleary GW, Lane ME (2012) The structure and function of the stratum corneum. Int J Pharm 435:3–9
-
(2012)
Int J Pharm
, vol.435
, pp. 3-9
-
-
Menon, G.K.1
Cleary, G.W.2
Lane, M.E.3
-
130
-
-
77955504721
-
ER signaling is activated to protect human HaCaT keratinocytes from ER stress induced by environmental doses of UVB
-
COI: 1:CAS:528:DC%2BC3cXotVCgs7g%3D, PID: 20513357
-
Mera K, Kawahara K, Tada K, Kawai K, Hashiguchi T, Maruyama I, Kanekura T (2010) ER signaling is activated to protect human HaCaT keratinocytes from ER stress induced by environmental doses of UVB. Biochem Biophys Res Commun 397:350–354
-
(2010)
Biochem Biophys Res Commun
, vol.397
, pp. 350-354
-
-
Mera, K.1
Kawahara, K.2
Tada, K.3
Kawai, K.4
Hashiguchi, T.5
Maruyama, I.6
Kanekura, T.7
-
131
-
-
0036315292
-
Suprabasal desmoglein 3 expression in the epidermis of transgenic mice results in hyperproliferation and abnormal differentiation
-
COI: 1:CAS:528:DC%2BD38XlslyjtLk%3D, PID: 12138195
-
Merritt AJ, Berika MY, Zhai W, Kirk SE, Ji B, Hardman MJ, Garrod DR (2002) Suprabasal desmoglein 3 expression in the epidermis of transgenic mice results in hyperproliferation and abnormal differentiation. Mol Cell Biol 22:5846–5858
-
(2002)
Mol Cell Biol
, vol.22
, pp. 5846-5858
-
-
Merritt, A.J.1
Berika, M.Y.2
Zhai, W.3
Kirk, S.E.4
Ji, B.5
Hardman, M.J.6
Garrod, D.R.7
-
132
-
-
35348891428
-
Gap junctions: basic structure and function
-
COI: 1:CAS:528:DC%2BD2sXhtFKisbbO, PID: 17934503
-
Mese G, Richard G, White TW (2007) Gap junctions: basic structure and function. J Invest Dermatol 127:2516–2524
-
(2007)
J Invest Dermatol
, vol.127
, pp. 2516-2524
-
-
Mese, G.1
Richard, G.2
White, T.W.3
-
133
-
-
33644802963
-
A missense mutation in the cadherin interaction site of the desmoglein 4 gene underlies localized autosomal recessive hypotrichosis
-
COI: 1:CAS:528:DC%2BD2MXht1GrtrvK, PID: 16297213
-
Messenger AG, Bazzi H, Parslew R, Shapiro L, Christiano AM (2005) A missense mutation in the cadherin interaction site of the desmoglein 4 gene underlies localized autosomal recessive hypotrichosis. J Invest Dermatol 125:1077–1079
-
(2005)
J Invest Dermatol
, vol.125
, pp. 1077-1079
-
-
Messenger, A.G.1
Bazzi, H.2
Parslew, R.3
Shapiro, L.4
Christiano, A.M.5
-
134
-
-
32944481943
-
Focal palmoplantar keratoderma caused by an autosomal dominant inherited mutation in the desmoglein 1 gene
-
COI: 1:STN:280:DC%2BD28%2Fps1Ortw%3D%3D, PID: 16484817
-
Milingou M, Wood P, Masouye I, McLean WH, Borradori L (2006) Focal palmoplantar keratoderma caused by an autosomal dominant inherited mutation in the desmoglein 1 gene. Dermatology 212:117–122
-
(2006)
Dermatology
, vol.212
, pp. 117-122
-
-
Milingou, M.1
Wood, P.2
Masouye, I.3
McLean, W.H.4
Borradori, L.5
-
135
-
-
0031585870
-
Corneodesmosin, a corneodesmosome-specific basic protein, is expressed in the cornified epithelia of the pig, guinea pig, rat, and mouse
-
COI: 1:CAS:528:DyaK2sXhsVKktr4%3D, PID: 9056420
-
Montezin M, Simon M, Guerrin M, Serre G (1997) Corneodesmosin, a corneodesmosome-specific basic protein, is expressed in the cornified epithelia of the pig, guinea pig, rat, and mouse. Exp Cell Res 231:132–140
-
(1997)
Exp Cell Res
, vol.231
, pp. 132-140
-
-
Montezin, M.1
Simon, M.2
Guerrin, M.3
Serre, G.4
-
136
-
-
4143091624
-
A recurrent intragenic deletion in the desmoglein 4 gene underlies localized autosomal recessive hypotrichosis
-
COI: 1:CAS:528:DC%2BD2cXnsValtbs%3D, PID: 15304105
-
Moss C, Martinez-Mir A, Lam H, Tadin-Strapps M, Kljuic A, Christiano AM (2004) A recurrent intragenic deletion in the desmoglein 4 gene underlies localized autosomal recessive hypotrichosis. J Invest Dermatol 123:607–610
-
(2004)
J Invest Dermatol
, vol.123
, pp. 607-610
-
-
Moss, C.1
Martinez-Mir, A.2
Lam, H.3
Tadin-Strapps, M.4
Kljuic, A.5
Christiano, A.M.6
-
137
-
-
84919429551
-
A case of pemphigus herpetiformis-like atypical pemphigus with IgG anti-desmocollin 3 antibodies
-
Nakamura Y, Takahata H, Teye K, Ishii N, Hashimoto T, Muto M (2014) A case of pemphigus herpetiformis-like atypical pemphigus with IgG anti-desmocollin 3 antibodies. Br J Dermatol. doi:10.1111/bjd.13088
-
(2014)
Br J Dermatol
-
-
Nakamura, Y.1
Takahata, H.2
Teye, K.3
Ishii, N.4
Hashimoto, T.5
Muto, M.6
-
138
-
-
0346101467
-
Arrhythmogenic right ventricular cardiomyopathy (Naxos disease): report of a Turkish boy
-
PID: 14675023
-
Narin N, Akcakus M, Gunes T, Celiker A, Baykan A, Uzum K, Ferahbas A (2003) Arrhythmogenic right ventricular cardiomyopathy (Naxos disease): report of a Turkish boy. PACE Pacing Clin Electrophysiol 26:2326–2329
-
(2003)
PACE Pacing Clin Electrophysiol
, vol.26
, pp. 2326-2329
-
-
Narin, N.1
Akcakus, M.2
Gunes, T.3
Celiker, A.4
Baykan, A.5
Uzum, K.6
Ferahbas, A.7
-
139
-
-
78751494023
-
Membrane-impermeable cross-linking provides evidence for homophilic, isoform-specific binding of desmosomal cadherins in epithelial cells
-
COI: 1:CAS:528:DC%2BC3MXlsFSqug%3D%3D, PID: 21098030
-
Nie Z, Merritt A, Rouhi-Parkouhi M, Tabernero L, Garrod D (2011) Membrane-impermeable cross-linking provides evidence for homophilic, isoform-specific binding of desmosomal cadherins in epithelial cells. J Biol Chem 286:2143–2154
-
(2011)
J Biol Chem
, vol.286
, pp. 2143-2154
-
-
Nie, Z.1
Merritt, A.2
Rouhi-Parkouhi, M.3
Tabernero, L.4
Garrod, D.5
-
140
-
-
35348841509
-
Tight junctions/adherens junctions: basic structure and function
-
COI: 1:CAS:528:DC%2BD2sXhtFKisbbN, PID: 17934504
-
Niessen CM (2007) Tight junctions/adherens junctions: basic structure and function. J Invest Dermatol 127:2525–2532
-
(2007)
J Invest Dermatol
, vol.127
, pp. 2525-2532
-
-
Niessen, C.M.1
-
141
-
-
39849088124
-
Molecular components of the adherens junction
-
COI: 1:CAS:528:DC%2BD1cXjtVSqtrY%3D, PID: 18206110
-
Niessen CM, Gottardi CJ (2008) Molecular components of the adherens junction. Biochim Biophys Acta 1778:562–571
-
(2008)
Biochim Biophys Acta
, vol.1778
, pp. 562-571
-
-
Niessen, C.M.1
Gottardi, C.J.2
-
142
-
-
0034326902
-
Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma
-
COI: 1:CAS:528:DC%2BD3cXosVKkur4%3D, PID: 11063735
-
Norgett EE, Hatsell SJ, Carvajal-Huerta L, Cabezas JC, Common J, Purkis PE, Whittock N, Leigh IM, Stevens HP, Kelsell DP (2000) Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. Hum Mol Genet 9:2761–2766
-
(2000)
Hum Mol Genet
, vol.9
, pp. 2761-2766
-
-
Norgett, E.E.1
Hatsell, S.J.2
Carvajal-Huerta, L.3
Cabezas, J.C.4
Common, J.5
Purkis, P.E.6
Whittock, N.7
Leigh, I.M.8
Stevens, H.P.9
Kelsell, D.P.10
-
143
-
-
33745190262
-
Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and woolly hair associated with a novel insertion mutation in desmoplakin
-
COI: 1:CAS:528:DC%2BD28Xls1Khu70%3D, PID: 16628197
-
Norgett EE, Lucke TW, Bowers B, Munro CS, Leigh IM, Kelsell DP (2006) Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and woolly hair associated with a novel insertion mutation in desmoplakin. J Invest Dermatol 126:1651–1654
-
(2006)
J Invest Dermatol
, vol.126
, pp. 1651-1654
-
-
Norgett, E.E.1
Lucke, T.W.2
Bowers, B.3
Munro, C.S.4
Leigh, I.M.5
Kelsell, D.P.6
-
144
-
-
0029798055
-
Distinct desmocollin isoforms occur in the same desmosomes and show reciprocally graded distributions in bovine nasal epidermis
-
COI: 1:CAS:528:DyaK28XksFSrsbo%3D, PID: 8755539
-
North AJ, Chidgey MA, Clarke JP, Bardsley WG, Garrod DR (1996) Distinct desmocollin isoforms occur in the same desmosomes and show reciprocally graded distributions in bovine nasal epidermis. Proc Natl Acad Sci U S A 93:7701–7705
-
(1996)
Proc Natl Acad Sci U S A
, vol.93
, pp. 7701-7705
-
-
North, A.J.1
Chidgey, M.A.2
Clarke, J.P.3
Bardsley, W.G.4
Garrod, D.R.5
-
145
-
-
1842290378
-
Conjunctival involvement in familial chronic benign pemphigus (Hailey-Hailey disease)
-
COI: 1:STN:280:DyaK2szht1yrtQ%3D%3D, PID: 9169328
-
Oguz O, Gokler G, Ocakoglu O, Oguz V, Demirkesen C, Aydemir EH (1997) Conjunctival involvement in familial chronic benign pemphigus (Hailey-Hailey disease). Int J Dermatol 36:282–285
-
(1997)
Int J Dermatol
, vol.36
, pp. 282-285
-
-
Oguz, O.1
Gokler, G.2
Ocakoglu, O.3
Oguz, V.4
Demirkesen, C.5
Aydemir, E.H.6
-
146
-
-
77955577355
-
Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease
-
COI: 1:CAS:528:DC%2BC3cXpvFWrsb8%3D, PID: 20691404
-
Oji V, Eckl KM, Aufenvenne K, Natebus M, Tarinski T, Ackermann K, Seller N, Metze D, Nurnberg G, Folster-Holst R, Schafer-Korting M, Hausser I, Traupe H, Hennies HC (2010) Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease. Am J Hum Genet 87:274–281
-
(2010)
Am J Hum Genet
, vol.87
, pp. 274-281
-
-
Oji, V.1
Eckl, K.M.2
Aufenvenne, K.3
Natebus, M.4
Tarinski, T.5
Ackermann, K.6
Seller, N.7
Metze, D.8
Nurnberg, G.9
Folster-Holst, R.10
Schafer-Korting, M.11
Hausser, I.12
Traupe, H.13
Hennies, H.C.14
-
147
-
-
34548845571
-
Loss of the Atp2c1 secretory pathway Ca(2+)-ATPase (SPCA1) in mice causes Golgi stress, apoptosis, and midgestational death in homozygous embryos and squamous cell tumors in adult heterozygotes
-
COI: 1:CAS:528:DC%2BD2sXpslGjtLc%3D, PID: 17597066
-
Okunade GW, Miller ML, Azhar M, Andringa A, Sanford LP, Doetschman T, Prasad V, Shull GE (2007) Loss of the Atp2c1 secretory pathway Ca(2+)-ATPase (SPCA1) in mice causes Golgi stress, apoptosis, and midgestational death in homozygous embryos and squamous cell tumors in adult heterozygotes. J Biol Chem 282:26517–26527
-
(2007)
J Biol Chem
, vol.282
, pp. 26517-26527
-
-
Okunade, G.W.1
Miller, M.L.2
Azhar, M.3
Andringa, A.4
Sanford, L.P.5
Doetschman, T.6
Prasad, V.7
Shull, G.E.8
-
148
-
-
84863170212
-
Deficient plakophilin-1 expression due to a mutation in PKP1 causes ectodermal dysplasia-skin fragility syndrome in Chesapeake Bay retriever dogs
-
COI: 1:CAS:528:DC%2BC38XjsVyisb8%3D, PID: 22384142
-
Olivry T, Linder KE, Wang P, Bizikova P, Bernstein JA, Dunston SM, Paps JS, Casal ML (2012) Deficient plakophilin-1 expression due to a mutation in PKP1 causes ectodermal dysplasia-skin fragility syndrome in Chesapeake Bay retriever dogs. PLoS ONE 7:e32072
-
(2012)
PLoS ONE
, vol.7
, pp. e32072
-
-
Olivry, T.1
Linder, K.E.2
Wang, P.3
Bizikova, P.4
Bernstein, J.A.5
Dunston, S.M.6
Paps, J.S.7
Casal, M.L.8
-
149
-
-
0028787743
-
The fourth armadillo repeat of plakoglobin (gamma-catenin) is required for its high affinity binding to the cytoplasmic domains of E-cadherin and desmosomal cadherin Dsg2, and the tumor suppressor APC protein
-
COI: 1:CAS:528:DyaK2MXhtVSktLrJ, PID: 8749329
-
Ozawa M, Terada H, Pedraza C (1995) The fourth armadillo repeat of plakoglobin (gamma-catenin) is required for its high affinity binding to the cytoplasmic domains of E-cadherin and desmosomal cadherin Dsg2, and the tumor suppressor APC protein. J Biochem 118:1077–1082
-
(1995)
J Biochem
, vol.118
, pp. 1077-1082
-
-
Ozawa, M.1
Terada, H.2
Pedraza, C.3
-
150
-
-
76049106935
-
No evidence of skin blisters with human desmocollin-3 gene mutation
-
COI: 1:CAS:528:DC%2BC3cXlt1Klsrw%3D, PID: 20159115
-
Payne AS (2010) No evidence of skin blisters with human desmocollin-3 gene mutation. Am J Hum Genet 86:292
-
(2010)
Am J Hum Genet
, vol.86
, pp. 292
-
-
Payne, A.S.1
-
151
-
-
0026661360
-
The vertebrate adhesive junction proteins beta-catenin and plakoglobin and the Drosophila segment polarity gene armadillo form a multigene family with similar properties
-
COI: 1:CAS:528:DyaK38XkvVGmt7g%3D, PID: 1639851
-
Peifer M, McCrea PD, Green KJ, Wieschaus E, Gumbiner BM (1992) The vertebrate adhesive junction proteins beta-catenin and plakoglobin and the Drosophila segment polarity gene armadillo form a multigene family with similar properties. J Cell Biol 118:681–691
-
(1992)
J Cell Biol
, vol.118
, pp. 681-691
-
-
Peifer, M.1
McCrea, P.D.2
Green, K.J.3
Wieschaus, E.4
Gumbiner, B.M.5
-
152
-
-
0033593328
-
2+−ATPase isoform 2 (SERCA2) gene
-
COI: 1:CAS:528:DyaK1MXovVKjsA%3D%3D, PID: 9891028
-
2+−ATPase isoform 2 (SERCA2) gene. J Biol Chem 274:2556–2562
-
(1999)
J Biol Chem
, vol.274
, pp. 2556-2562
-
-
Periasamy, M.1
Reed, T.D.2
Liu, L.H.3
Ji, Y.4
Loukianov, E.5
Paul, R.J.6
Nieman, M.L.7
Riddle, T.8
Duffy, J.J.9
Doetschman, T.10
Lorenz, J.N.11
Shull, G.E.12
-
153
-
-
84555218069
-
Desmosomal genodermatoses
-
COI: 1:CAS:528:DC%2BC38XivFOqtr4%3D, PID: 21929534
-
Petrof G, Mellerio JE, McGrath JA (2012) Desmosomal genodermatoses. Br J Dermatol 166:36–45
-
(2012)
Br J Dermatol
, vol.166
, pp. 36-45
-
-
Petrof, G.1
Mellerio, J.E.2
McGrath, J.A.3
-
154
-
-
79954558531
-
Lack of plakoglobin leads to lethal congenital epidermolysis bullosa: a novel clinico-genetic entity
-
COI: 1:CAS:528:DC%2BC3MXksFSkur0%3D, PID: 21320868
-
Pigors M, Kiritsi D, Krumpelmann S, Wagner N, He Y, Podda M, Kohlhase J, Hausser I, Bruckner-Tuderman L, Has C (2011) Lack of plakoglobin leads to lethal congenital epidermolysis bullosa: a novel clinico-genetic entity. Hum Mol Genet 20:1811–1819
-
(2011)
Hum Mol Genet
, vol.20
, pp. 1811-1819
-
-
Pigors, M.1
Kiritsi, D.2
Krumpelmann, S.3
Wagner, N.4
He, Y.5
Podda, M.6
Kohlhase, J.7
Hausser, I.8
Bruckner-Tuderman, L.9
Has, C.10
-
155
-
-
0022483542
-
Cardiac abnormalities in familial palmoplantar keratosis
-
COI: 1:STN:280:DyaL2s%2Fis1eltw%3D%3D, PID: 2945574
-
Protonotarios N, Tsatsopoulou A, Patsourakos P, Alexopoulos D, Gezerlis P, Simitsis S, Scampardonis G (1986) Cardiac abnormalities in familial palmoplantar keratosis. Br Heart J 56:321–326
-
(1986)
Br Heart J
, vol.56
, pp. 321-326
-
-
Protonotarios, N.1
Tsatsopoulou, A.2
Patsourakos, P.3
Alexopoulos, D.4
Gezerlis, P.5
Simitsis, S.6
Scampardonis, G.7
-
156
-
-
0035113694
-
Naxos disease: keratoderma, scalp modifications, and cardiomyopathy
-
COI: 1:STN:280:DC%2BD3M7kvF2nsA%3D%3D, PID: 11174397
-
Protonotarios N, Tsatsopoulou A, Fontaine G (2001) Naxos disease: keratoderma, scalp modifications, and cardiomyopathy. J Am Acad Dermatol 44:309–311
-
(2001)
J Am Acad Dermatol
, vol.44
, pp. 309-311
-
-
Protonotarios, N.1
Tsatsopoulou, A.2
Fontaine, G.3
-
157
-
-
79951840005
-
IgG autoantibodies against desmocollin 3 in pemphigus sera induce loss of keratinocyte adhesion
-
COI: 1:CAS:528:DC%2BC3MXjtVOlt78%3D, PID: 21281804
-
Rafei D, Muller R, Ishii N, Llamazares M, Hashimoto T, Hertl M, Eming R (2011) IgG autoantibodies against desmocollin 3 in pemphigus sera induce loss of keratinocyte adhesion. Am J Pathol 178:718–723
-
(2011)
Am J Pathol
, vol.178
, pp. 718-723
-
-
Rafei, D.1
Muller, R.2
Ishii, N.3
Llamazares, M.4
Hashimoto, T.5
Hertl, M.6
Eming, R.7
-
158
-
-
3042587550
-
A recurrent intragenic deletion mutation in DSG4 gene in three Pakistani families with autosomal recessive hypotrichosis
-
PID: 15191570
-
Rafiq MA, Ansar M, Mahmood S, Haque S, Faiyaz-ul-Haque M, Leal SM, Ahmad W (2004) A recurrent intragenic deletion mutation in DSG4 gene in three Pakistani families with autosomal recessive hypotrichosis. J Invest Dermatol 123:247–248
-
(2004)
J Invest Dermatol
, vol.123
, pp. 247-248
-
-
Rafiq, M.A.1
Ansar, M.2
Mahmood, S.3
Haque, S.4
Faiyaz-ul-Haque, M.5
Leal, S.M.6
Ahmad, W.7
-
159
-
-
84863778992
-
Hailey-Hailey disease and tight junctions: Claudins 1 and 4 are regulated by ATP2C1 gene encoding Ca(2+)/Mn(2+) ATPase SPCA1 in cultured keratinocytes
-
COI: 1:CAS:528:DC%2BC38XhtlKqtbfN, PID: 22639968
-
Raiko L, Siljamaki E, Mahoney MG, Putaala H, Suominen E, Peltonen J, Peltonen S (2012) Hailey-Hailey disease and tight junctions: Claudins 1 and 4 are regulated by ATP2C1 gene encoding Ca(2+)/Mn(2+) ATPase SPCA1 in cultured keratinocytes. Exp Dermatol 21:586–591
-
(2012)
Exp Dermatol
, vol.21
, pp. 586-591
-
-
Raiko, L.1
Siljamaki, E.2
Mahoney, M.G.3
Putaala, H.4
Suominen, E.5
Peltonen, J.6
Peltonen, S.7
-
160
-
-
84901396636
-
Mutation in KANK2, encoding a sequestering protein for steroid receptor coactivators, causes keratoderma and woolly hair
-
COI: 1:CAS:528:DC%2BC2cXhtFyns73J, PID: 24671081
-
Ramot Y, Molho-Pessach V, Meir T, Alper-Pinus R, Siam I, Tams S, Babay S, Zlotogorski A (2014) Mutation in KANK2, encoding a sequestering protein for steroid receptor coactivators, causes keratoderma and woolly hair. J Med Genet 51:388–394
-
(2014)
J Med Genet
, vol.51
, pp. 388-394
-
-
Ramot, Y.1
Molho-Pessach, V.2
Meir, T.3
Alper-Pinus, R.4
Siam, I.5
Tams, S.6
Babay, S.7
Zlotogorski, A.8
-
161
-
-
0020666825
-
Commentary: Darier-White disease
-
COI: 1:STN:280:DyaL3s%2FpvFemsQ%3D%3D, PID: 6849569
-
Rand R, Baden HP (1983) Commentary: Darier-White disease. Arch Dermatol 119:81–83
-
(1983)
Arch Dermatol
, vol.119
, pp. 81-83
-
-
Rand, R.1
Baden, H.P.2
-
162
-
-
0030103294
-
Familial occurrence of a rare combination of dilated cardiomyopathy with palmoplantar keratoderma and curly hair
-
COI: 1:STN:280:DyaK283osFKqsw%3D%3D, PID: 8682558
-
Rao BH, Reddy IS, Chandra KS (1996) Familial occurrence of a rare combination of dilated cardiomyopathy with palmoplantar keratoderma and curly hair. Indian Heart J 48:161–162
-
(1996)
Indian Heart J
, vol.48
, pp. 161-162
-
-
Rao, B.H.1
Reddy, I.S.2
Chandra, K.S.3
-
163
-
-
0032970153
-
N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma
-
COI: 1:CAS:528:DyaK1MXjs1Wnt7s%3D, PID: 10332028
-
Rickman L, Simrak D, Stevens HP, Hunt DM, King IA, Bryant SP, Eady RA, Leigh IM, Arnemann J, Magee AI, Kelsell DP, Buxton RS (1999) N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma. Hum Mol Genet 8:971–976
-
(1999)
Hum Mol Genet
, vol.8
, pp. 971-976
-
-
Rickman, L.1
Simrak, D.2
Stevens, H.P.3
Hunt, D.M.4
King, I.A.5
Bryant, S.P.6
Eady, R.A.7
Leigh, I.M.8
Arnemann, J.9
Magee, A.I.10
Kelsell, D.P.11
Buxton, R.S.12
-
164
-
-
0032978357
-
2+ pump, cause Darier disease
-
COI: 1:CAS:528:DyaK1MXitVCitLw%3D, PID: 10080178
-
2+ pump, cause Darier disease. Nat Genet 21:271–277
-
(1999)
Nat Genet
, vol.21
, pp. 271-277
-
-
Sakuntabhai, A.1
Ruiz-Perez, V.2
Carter, S.3
Jacobsen, N.4
Burge, S.5
Monk, S.6
Smith, M.7
Munro, C.S.8
O’Donovan, M.9
Craddock, N.10
Kucherlapati, R.11
Rees, J.L.12
Owen, M.13
Lathrop, G.M.14
Monaco, A.P.15
Strachan, T.16
Hovnanian, A.17
-
165
-
-
84908086816
-
Peeling off the genetics of atopic dermatitis-like congenital disorders
-
PID: 25282561
-
Samuelov L, Sprecher E (2014) Peeling off the genetics of atopic dermatitis-like congenital disorders. J Allergy Clin Immunol 134:808–815
-
(2014)
J Allergy Clin Immunol
, vol.134
, pp. 808-815
-
-
Samuelov, L.1
Sprecher, E.2
-
166
-
-
84885019283
-
Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting
-
COI: 1:CAS:528:DC%2BC3sXhtlWrsr3K, PID: 23974871
-
Samuelov L, Sarig O, Harmon RM, Rapaport D, Ishida-Yamamoto A, Isakov O, Koetsier JL, Gat A, Goldberg I, Bergman R, Spiegel R, Eytan O, Geller S, Peleg S, Shomron N, Goh CS, Wilson NJ, Smith FJ, Pohler E, Simpson MA, McLean WH, Irvine AD, Horowitz M, McGrath JA, Green KJ, Sprecher E (2013) Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting. Nat Genet 45:1244–1248
-
(2013)
Nat Genet
, vol.45
, pp. 1244-1248
-
-
Samuelov, L.1
Sarig, O.2
Harmon, R.M.3
Rapaport, D.4
Ishida-Yamamoto, A.5
Isakov, O.6
Koetsier, J.L.7
Gat, A.8
Goldberg, I.9
Bergman, R.10
Spiegel, R.11
Eytan, O.12
Geller, S.13
Peleg, S.14
Shomron, N.15
Goh, C.S.16
Wilson, N.J.17
Smith, F.J.18
Pohler, E.19
Simpson, M.A.20
McLean, W.H.21
Irvine, A.D.22
Horowitz, M.23
McGrath, J.A.24
Green, K.J.25
Sprecher, E.26
more..
-
167
-
-
84885945083
-
Two cases of pemphigus vegetans with IgG anti-desmocollin 3 antibodies
-
PID: 23946009
-
Saruta H, Ishii N, Teye K, Ono F, Ohyama B, Koga H, Ohata C, Furumura M, Tsuruta D, Hashimoto T (2013) Two cases of pemphigus vegetans with IgG anti-desmocollin 3 antibodies. JAMA Dermatol 149:1209–1213
-
(2013)
JAMA Dermatol
, vol.149
, pp. 1209-1213
-
-
Saruta, H.1
Ishii, N.2
Teye, K.3
Ono, F.4
Ohyama, B.5
Koga, H.6
Ohata, C.7
Furumura, M.8
Tsuruta, D.9
Hashimoto, T.10
-
168
-
-
79955659952
-
Darier disease: a disease model of impaired calcium homeostasis in the skin
-
COI: 1:CAS:528:DC%2BC3MXkvFags7o%3D, PID: 21167218
-
Savignac M, Edir A, Simon M, Hovnanian A (2011) Darier disease: a disease model of impaired calcium homeostasis in the skin. Biochim Biophys Acta 1813:1111–1117
-
(2011)
Biochim Biophys Acta
, vol.1813
, pp. 1111-1117
-
-
Savignac, M.1
Edir, A.2
Simon, M.3
Hovnanian, A.4
-
169
-
-
84902549600
-
SERCA2 dysfunction in Darier disease causes endoplasmic reticulum stress and impaired cell-to-cell adhesion strength: rescue by Miglustat
-
COI: 1:CAS:528:DC%2BC2cXhsFegurw%3D, PID: 24390139
-
Savignac M, Simon M, Edir A, Guibbal L, Hovnanian A (2014) SERCA2 dysfunction in Darier disease causes endoplasmic reticulum stress and impaired cell-to-cell adhesion strength: rescue by Miglustat. J Invest Dermatol 134:1961–1970
-
(2014)
J Invest Dermatol
, vol.134
, pp. 1961-1970
-
-
Savignac, M.1
Simon, M.2
Edir, A.3
Guibbal, L.4
Hovnanian, A.5
-
170
-
-
33745551443
-
Mutations in the desmoglein 4 gene underlie localized autosomal recessive hypotrichosis with monilethrix hairs and congenital scalp erosions
-
COI: 1:CAS:528:DC%2BD28Xls1Ghtr4%3D, PID: 16543896
-
Schaffer JV, Bazzi H, Vitebsky A, Witkiewicz A, Kovich OI, Kamino H, Shapiro LS, Amin SP, Orlow SJ, Christiano AM (2006) Mutations in the desmoglein 4 gene underlie localized autosomal recessive hypotrichosis with monilethrix hairs and congenital scalp erosions. J Invest Dermatol 126:1286–1291
-
(2006)
J Invest Dermatol
, vol.126
, pp. 1286-1291
-
-
Schaffer, J.V.1
Bazzi, H.2
Vitebsky, A.3
Witkiewicz, A.4
Kovich, O.I.5
Kamino, H.6
Shapiro, L.S.7
Amin, S.P.8
Orlow, S.J.9
Christiano, A.M.10
-
171
-
-
0030856140
-
Plakophilins 1a and 1b: widespread nuclear proteins recruited in specific epithelial cells as desmosomal plaque components
-
COI: 1:CAS:528:DyaK2sXnsVChurc%3D, PID: 9369526
-
Schmidt A, Langbein L, Rode M, Pratzel S, Zimbelmann R, Franke WW (1997) Plakophilins 1a and 1b: widespread nuclear proteins recruited in specific epithelial cells as desmosomal plaque components. Cell Tissue Res 290:481–499
-
(1997)
Cell Tissue Res
, vol.290
, pp. 481-499
-
-
Schmidt, A.1
Langbein, L.2
Rode, M.3
Pratzel, S.4
Zimbelmann, R.5
Franke, W.W.6
-
172
-
-
33646429507
-
Epidermal barrier formation and recovery in skin disorders
-
COI: 1:CAS:528:DC%2BD28XksVWgurc%3D, PID: 16670755
-
Segre JA (2006) Epidermal barrier formation and recovery in skin disorders. J Clin Invest 116:1150–1158
-
(2006)
J Clin Invest
, vol.116
, pp. 1150-1158
-
-
Segre, J.A.1
-
173
-
-
0026099309
-
Desmoplakin I and II in acantholytic dermatoses: preservation in pemphigus vulgaris and pemphigus erythematosus and dissolution in Hailey-Hailey’s disease and Darier’s disease
-
COI: 1:STN:280:DyaK3M3nsVaksA%3D%3D, PID: 2054341
-
Setoyama M, Choi KC, Hashimoto K, Ishihara M, Predeteanu GS, Dinehart S, Predeteanu C, Hamzavi LH, Etoh H (1991a) Desmoplakin I and II in acantholytic dermatoses: preservation in pemphigus vulgaris and pemphigus erythematosus and dissolution in Hailey-Hailey’s disease and Darier’s disease. J Dermatol Sci 2:9–17
-
(1991)
J Dermatol Sci
, vol.2
, pp. 9-17
-
-
Setoyama, M.1
Choi, K.C.2
Hashimoto, K.3
Ishihara, M.4
Predeteanu, G.S.5
Dinehart, S.6
Predeteanu, C.7
Hamzavi, L.H.8
Etoh, H.9
-
174
-
-
0025833912
-
Immunolocalization of desmoglein I (“band 3” polypeptide) on acantholytic cells in pemphigus vulgaris, Darier’s disease, and Hailey-Hailey’s disease
-
COI: 1:STN:280:DyaK387ls1Cnug%3D%3D, PID: 1787220
-
Setoyama M, Hashimoto K, Tashiro M (1991b) Immunolocalization of desmoglein I (“band 3” polypeptide) on acantholytic cells in pemphigus vulgaris, Darier’s disease, and Hailey-Hailey’s disease. J Dermatol 18:500–505
-
(1991)
J Dermatol
, vol.18
, pp. 500-505
-
-
Setoyama, M.1
Hashimoto, K.2
Tashiro, M.3
-
175
-
-
84855351712
-
Congenital hair loss disorders: rare, but not too rare
-
COI: 1:CAS:528:DC%2BC38Xjt1Wltb0%3D, PID: 22044263
-
Shimomura Y (2012) Congenital hair loss disorders: rare, but not too rare. J Dermatol 39:3–10
-
(2012)
J Dermatol
, vol.39
, pp. 3-10
-
-
Shimomura, Y.1
-
176
-
-
33745569010
-
Mutations in the desmoglein 4 gene are associated with monilethrix-like congenital hypotrichosis
-
COI: 1:CAS:528:DC%2BD28Xls1Ghsbc%3D, PID: 16439973
-
Shimomura Y, Sakamoto F, Kariya N, Matsunaga K, Ito M (2006) Mutations in the desmoglein 4 gene are associated with monilethrix-like congenital hypotrichosis. J Invest Dermatol 126:1281–1285
-
(2006)
J Invest Dermatol
, vol.126
, pp. 1281-1285
-
-
Shimomura, Y.1
Sakamoto, F.2
Kariya, N.3
Matsunaga, K.4
Ito, M.5
-
177
-
-
77951122089
-
APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex
-
COI: 1:CAS:528:DC%2BC3cXkslartbY%3D, PID: 20393562
-
Shimomura Y, Agalliu D, Vonica A, Luria V, Wajid M, Baumer A, Belli S, Petukhova L, Schinzel A, Brivanlou AH, Barres BA, Christiano AM (2010) APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex. Nature 464:1043–1047
-
(2010)
Nature
, vol.464
, pp. 1043-1047
-
-
Shimomura, Y.1
Agalliu, D.2
Vonica, A.3
Luria, V.4
Wajid, M.5
Baumer, A.6
Belli, S.7
Petukhova, L.8
Schinzel, A.9
Brivanlou, A.H.10
Barres, B.A.11
Christiano, A.M.12
-
178
-
-
0033864506
-
2+−transporting ATPases
-
COI: 1:CAS:528:DC%2BD3cXmsVensrw%3D, PID: 10951186
-
2+−transporting ATPases. Eur J Biochem 267:5284–5290
-
(2000)
Eur J Biochem
, vol.267
, pp. 5284-5290
-
-
Shull, G.E.1
-
179
-
-
0035827559
-
Refined characterization of corneodesmosin proteolysis during terminal differentiation of human epidermis and its relationship to desquamation
-
COI: 1:CAS:528:DC%2BD3MXktlKntrs%3D, PID: 11279026
-
Simon M, Jonca N, Guerrin M, Haftek M, Bernard D, Caubet C, Egelrud T, Schmidt R, Serre G (2001) Refined characterization of corneodesmosin proteolysis during terminal differentiation of human epidermis and its relationship to desquamation. J Biol Chem 276:20292–20299
-
(2001)
J Biol Chem
, vol.276
, pp. 20292-20299
-
-
Simon, M.1
Jonca, N.2
Guerrin, M.3
Haftek, M.4
Bernard, D.5
Caubet, C.6
Egelrud, T.7
Schmidt, R.8
Serre, G.9
-
180
-
-
80051983081
-
Deconstructing the skin: cytoarchitectural determinants of epidermal morphogenesis
-
COI: 1:CAS:528:DC%2BC3MXhtVGlu7fP, PID: 21860392
-
Simpson CL, Patel DM, Green KJ (2011) Deconstructing the skin: cytoarchitectural determinants of epidermal morphogenesis. Nat Rev Mol Cell Biol 12:565–580
-
(2011)
Nat Rev Mol Cell Biol
, vol.12
, pp. 565-580
-
-
Simpson, C.L.1
Patel, D.M.2
Green, K.J.3
-
181
-
-
54849404191
-
Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair
-
COI: 1:STN:280:DC%2BD1M3ltlCrtg%3D%3D, PID: 18957847
-
Simpson MA, Mansour S, Ahnood D, Kalidas K, Patton MA, McKenna WJ, Behr ER, Crosby AH (2009) Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair. Cardiology 113:28–34
-
(2009)
Cardiology
, vol.113
, pp. 28-34
-
-
Simpson, M.A.1
Mansour, S.2
Ahnood, D.3
Kalidas, K.4
Patton, M.A.5
McKenna, W.J.6
Behr, E.R.7
Crosby, A.H.8
-
182
-
-
43749116674
-
Plakophilin-3-deficient mice develop hair coat abnormalities and are prone to cutaneous inflammation
-
Sklyarova T, Bonne S, D’Hooge P, Denecker G, Goossens S, De Rycke R, Borgonie G, Bosl M, Roy F van, Hengel J van (2008) Plakophilin-3-deficient mice develop hair coat abnormalities and are prone to cutaneous inflammation. J Invest Dermatol 128:1375–1385
-
(2008)
J Invest Dermatol
, vol.128
, pp. 1375-1385
-
-
Sklyarova, T.1
Bonne, S.2
D’Hooge, P.3
Denecker, G.4
Goossens, S.5
De Rycke, R.6
Borgonie, G.7
Bosl, M.8
van, R.F.9
van, H.J.10
-
183
-
-
84859160559
-
Compound heterozygous mutations in desmoplakin cause skin fragility and woolly hair
-
COI: 1:CAS:528:DC%2BC38XntVyntbc%3D, PID: 21981446
-
Smith FJ, Wilson NJ, Moss C, Dopping-Hepenstal P, McGrath J (2012) Compound heterozygous mutations in desmoplakin cause skin fragility and woolly hair. Br J Dermatol 166:894–896
-
(2012)
Br J Dermatol
, vol.166
, pp. 894-896
-
-
Smith, F.J.1
Wilson, N.J.2
Moss, C.3
Dopping-Hepenstal, P.4
McGrath, J.5
-
184
-
-
77957931099
-
Plakophilin-1 localizes to the nucleus and interacts with single-stranded DNA
-
COI: 1:CAS:528:DC%2BC3cXht1yjsrbN, PID: 20613778
-
Sobolik-Delmaire T, Reddy R, Pashaj A, Roberts BJ, Wahl JK 3rd (2010) Plakophilin-1 localizes to the nucleus and interacts with single-stranded DNA. J Invest Dermatol 130:2638–2646
-
(2010)
J Invest Dermatol
, vol.130
, pp. 2638-2646
-
-
Sobolik-Delmaire, T.1
Reddy, R.2
Pashaj, A.3
Roberts, B.J.4
Wahl, J.K.5
-
185
-
-
1842639453
-
Homozygous splice site mutations in PKP1 result in loss of epidermal plakophilin 1 expression and underlie ectodermal dysplasia/skin fragility syndrome in two consanguineous families
-
COI: 1:CAS:528:DC%2BD2cXjt1Smsr8%3D, PID: 15086548
-
Sprecher E, Molho-Pessach V, Ingber A, Sagi E, Indelman M, Bergman R (2004) Homozygous splice site mutations in PKP1 result in loss of epidermal plakophilin 1 expression and underlie ectodermal dysplasia/skin fragility syndrome in two consanguineous families. J Invest Dermatol 122:647–651
-
(2004)
J Invest Dermatol
, vol.122
, pp. 647-651
-
-
Sprecher, E.1
Molho-Pessach, V.2
Ingber, A.3
Sagi, E.4
Indelman, M.5
Bergman, R.6
-
186
-
-
0027428693
-
Functional analysis of desmoplakin domains: specification of the interaction with keratin versus vimentin intermediate filament networks
-
COI: 1:CAS:528:DyaK3sXms1Omsrc%3D, PID: 7693716
-
Stappenbeck TS, Bornslaeger EA, Corcoran CM, Luu HH, Virata ML, Green KJ (1993) Functional analysis of desmoplakin domains: specification of the interaction with keratin versus vimentin intermediate filament networks. J Cell Biol 123:691–705
-
(1993)
J Cell Biol
, vol.123
, pp. 691-705
-
-
Stappenbeck, T.S.1
Bornslaeger, E.A.2
Corcoran, C.M.3
Luu, H.H.4
Virata, M.L.5
Green, K.J.6
-
187
-
-
25144471458
-
A missense mutation in the type II hair keratin hHb3 is associated with monilethrix
-
Steensel MA van, Steijlen PM, Bladergroen RS, Vermeer M, Geel M van (2005) A missense mutation in the type II hair keratin hHb3 is associated with monilethrix. J Med Genet 42:e19
-
(2005)
J Med Genet
, vol.e19
, pp. 42
-
-
-
188
-
-
0034639997
-
Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca(2+) pump
-
COI: 1:CAS:528:DC%2BD3cXivFyktLs%3D, PID: 10767338
-
Sudbrak R, Brown J, Dobson-Stone C, Carter S, Ramser J, White J, Healy E, Dissanayake M, Larregue M, Perrussel M, Lehrach H, Munro CS, Strachan T, Burge S, Hovnanian A, Monaco AP (2000) Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca(2+) pump. Hum Mol Genet 9:1131–1140
-
(2000)
Hum Mol Genet
, vol.9
, pp. 1131-1140
-
-
Sudbrak, R.1
Brown, J.2
Dobson-Stone, C.3
Carter, S.4
Ramser, J.5
White, J.6
Healy, E.7
Dissanayake, M.8
Larregue, M.9
Perrussel, M.10
Lehrach, H.11
Munro, C.S.12
Strachan, T.13
Burge, S.14
Hovnanian, A.15
Monaco, A.P.16
-
189
-
-
33751073197
-
Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2
-
COI: 1:CAS:528:DC%2BD28XhtFygs73M, PID: 17033975
-
Syrris P, Ward D, Evans A, Asimaki A, Gandjbakhch E, Sen-Chowdhry S, McKenna WJ (2006) Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2. Am J Hum Genet 79:978–984
-
(2006)
Am J Hum Genet
, vol.79
, pp. 978-984
-
-
Syrris, P.1
Ward, D.2
Evans, A.3
Asimaki, A.4
Gandjbakhch, E.5
Sen-Chowdhry, S.6
McKenna, W.J.7
-
190
-
-
0031906186
-
Ultrastructural localization of cell junctional components (desmoglein, plakoglobin, E-cadherin, and beta-catenin) in Hailey-Hailey disease, Darier’s disease, and pemphigus vulgaris
-
COI: 1:STN:280:DyaK1c7otVOqtQ%3D%3D, PID: 9521500
-
Tada J, Hashimoto K (1998) Ultrastructural localization of cell junctional components (desmoglein, plakoglobin, E-cadherin, and beta-catenin) in Hailey-Hailey disease, Darier’s disease, and pemphigus vulgaris. J Cutan Pathol 25:106–115
-
(1998)
J Cutan Pathol
, vol.25
, pp. 106-115
-
-
Tada, J.1
Hashimoto, K.2
-
191
-
-
84862856026
-
Inflammatory peeling skin syndrome caused a novel mutation in CDSN
-
COI: 1:CAS:528:DC%2BC38XksVOksLY%3D, PID: 22146835
-
Telem DF, Israeli S, Sarig O, Sprecher E (2012) Inflammatory peeling skin syndrome caused a novel mutation in CDSN. Arch Dermatol Res 304:251–255
-
(2012)
Arch Dermatol Res
, vol.304
, pp. 251-255
-
-
Telem, D.F.1
Israeli, S.2
Sarig, O.3
Sprecher, E.4
-
192
-
-
0035199158
-
Desmoplakin is essential in epidermal sheet formation
-
COI: 1:CAS:528:DC%2BD3MXpt1Ggu7g%3D, PID: 11781569
-
Vasioukhin V, Bowers E, Bauer C, Degenstein L, Fuchs E (2001) Desmoplakin is essential in epidermal sheet formation. Nat Cell Biol 3:1076–1085
-
(2001)
Nat Cell Biol
, vol.3
, pp. 1076-1085
-
-
Vasioukhin, V.1
Bowers, E.2
Bauer, C.3
Degenstein, L.4
Fuchs, E.5
-
193
-
-
25144470287
-
Clinical and molecular significance of splice site mutations in the plakophilin 1 gene in patients with ectodermal dysplasia-skin fragility syndrome
-
COI: 1:CAS:528:DC%2BD2MXhtVWitbrJ, PID: 16159727
-
Wessagowit V, McGrath JA (2005) Clinical and molecular significance of splice site mutations in the plakophilin 1 gene in patients with ectodermal dysplasia-skin fragility syndrome. Acta Derm Venereol 85:386–388
-
(2005)
Acta Derm Venereol
, vol.85
, pp. 386-388
-
-
Wessagowit, V.1
McGrath, J.A.2
-
194
-
-
0141651204
-
Cadherins as modulators of cellular phenotype
-
COI: 1:CAS:528:DC%2BD3sXpsFamtrc%3D, PID: 14570569
-
Wheelock MJ, Johnson KR (2003) Cadherins as modulators of cellular phenotype. Annu Rev Cell Dev Biol 19:207–235
-
(2003)
Annu Rev Cell Dev Biol
, vol.19
, pp. 207-235
-
-
Wheelock, M.J.1
Johnson, K.R.2
-
195
-
-
0033401667
-
Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency
-
COI: 1:CAS:528:DC%2BD3cXhtFGisQ%3D%3D, PID: 10594734
-
Whittock NV, Ashton GH, Dopping-Hepenstal PJ, Gratian MJ, Keane FM, Eady RA, McGrath JA (1999) Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency. J Invest Dermatol 113:940–946
-
(1999)
J Invest Dermatol
, vol.113
, pp. 940-946
-
-
Whittock, N.V.1
Ashton, G.H.2
Dopping-Hepenstal, P.J.3
Gratian, M.J.4
Keane, F.M.5
Eady, R.A.6
McGrath, J.A.7
-
196
-
-
0033832770
-
Genomic amplification of the human plakophilin 1 gene and detection of a new mutation in ectodermal dysplasia/skin fragility syndrome
-
COI: 1:CAS:528:DC%2BD3cXmsFWhtrk%3D, PID: 10951270
-
Whittock NV, Haftek M, Angoulvant N, Wolf F, Perrot H, Eady RA, McGrath JA (2000) Genomic amplification of the human plakophilin 1 gene and detection of a new mutation in ectodermal dysplasia/skin fragility syndrome. J Invest Dermatol 115:368–374
-
(2000)
J Invest Dermatol
, vol.115
, pp. 368-374
-
-
Whittock, N.V.1
Haftek, M.2
Angoulvant, N.3
Wolf, F.4
Perrot, H.5
Eady, R.A.6
McGrath, J.A.7
-
197
-
-
0036093823
-
Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma
-
COI: 1:CAS:528:DC%2BD38XjvFGrsro%3D, PID: 11982762
-
Whittock NV, Smith FJ, Wan H, Mallipeddi R, Griffiths WA, Dopping-Hepenstal P, Ashton GH, Eady RA, McLean WH, McGrath JA (2002a) Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma. J Invest Dermatol 118:838–844
-
(2002)
J Invest Dermatol
, vol.118
, pp. 838-844
-
-
Whittock, N.V.1
Smith, F.J.2
Wan, H.3
Mallipeddi, R.4
Griffiths, W.A.5
Dopping-Hepenstal, P.6
Ashton, G.H.7
Eady, R.A.8
McLean, W.H.9
McGrath, J.A.10
-
198
-
-
0036178690
-
Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome
-
COI: 1:CAS:528:DC%2BD38Xitl2isrg%3D, PID: 11841538
-
Whittock NV, Wan H, Morley SM, Garzon MC, Kristal L, Hyde P, McLean WH, Pulkkinen L, Uitto J, Christiano AM, Eady RA, McGrath JA (2002b) Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome. J Invest Dermatol 118:232–238
-
(2002)
J Invest Dermatol
, vol.118
, pp. 232-238
-
-
Whittock, N.V.1
Wan, H.2
Morley, S.M.3
Garzon, M.C.4
Kristal, L.5
Hyde, P.6
McLean, W.H.7
Pulkkinen, L.8
Uitto, J.9
Christiano, A.M.10
Eady, R.A.11
McGrath, J.A.12
-
199
-
-
62649095758
-
Acantholytic ectodermal dysplasia: clinicopathological study of a new desmosomal disorder
-
COI: 1:STN:280:DC%2BD1M3ks1WlsA%3D%3D, PID: 19067702
-
Winik BC, Asial RA, McGrath JA, South AP, Boente MC (2009) Acantholytic ectodermal dysplasia: clinicopathological study of a new desmosomal disorder. Br J Dermatol 160:868–874
-
(2009)
Br J Dermatol
, vol.160
, pp. 868-874
-
-
Winik, B.C.1
Asial, R.A.2
McGrath, J.A.3
South, A.P.4
Boente, M.C.5
-
200
-
-
0030747138
-
Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix
-
COI: 1:CAS:528:DyaK2sXkvFChtrs%3D, PID: 9241275
-
Winter H, Rogers MA, Langbein L, Stevens HP, Leigh IM, Labreze C, Roul S, Taieb A, Krieg T, Schweizer J (1997) Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix. Nat Genet 16:372–374
-
(1997)
Nat Genet
, vol.16
, pp. 372-374
-
-
Winter, H.1
Rogers, M.A.2
Langbein, L.3
Stevens, H.P.4
Leigh, I.M.5
Labreze, C.6
Roul, S.7
Taieb, A.8
Krieg, T.9
Schweizer, J.10
-
201
-
-
84890567093
-
A novel nonsense mutation in the CDSN gene underlying hypotrichosis simplex of the scalp in a Chinese family
-
COI: 1:CAS:528:DC%2BC2MXms1Sgur8%3D, PID: 23746069
-
Yang SX, Yin JH, Lin ZM, Wang HJ, Ren YL, Zhang J, Li RY, Yang Y (2014) A novel nonsense mutation in the CDSN gene underlying hypotrichosis simplex of the scalp in a Chinese family. Clin Exp Dermatol 39:75–77
-
(2014)
Clin Exp Dermatol
, vol.39
, pp. 75-77
-
-
Yang, S.X.1
Yin, J.H.2
Lin, Z.M.3
Wang, H.J.4
Ren, Y.L.5
Zhang, J.6
Li, R.Y.7
Yang, Y.8
-
202
-
-
33846548110
-
ER stress and diseases
-
COI: 1:CAS:528:DC%2BD2sXitVOhtLo%3D, PID: 17288551
-
Yoshida H (2007) ER stress and diseases. FEBS J 274:630–658
-
(2007)
FEBS J
, vol.274
, pp. 630-658
-
-
Yoshida, H.1
-
203
-
-
69149104095
-
Mutation in DSG1 causing autosomal dominant striate palmoplantar keratoderma
-
COI: 1:CAS:528:DC%2BD1MXht1WnsL%2FJ
-
Zamiri M, Smith FJ, Campbell LE, Tetley L, Eady RA, Hodgins MB, McLean WH, Munro CS (2009) Mutation in DSG1 causing autosomal dominant striate palmoplantar keratoderma. J Invest Dermatol 161:692–694
-
(2009)
J Invest Dermatol
, vol.161
, pp. 692-694
-
-
Zamiri, M.1
Smith, F.J.2
Campbell, L.E.3
Tetley, L.4
Eady, R.A.5
Hodgins, M.B.6
McLean, W.H.7
Munro, C.S.8
-
204
-
-
25144445920
-
Compound heterozygosity for new splice site mutations in the plakophilin 1 gene (PKP1) in a Chinese case of ectodermal dysplasia-skin fragility syndrome
-
COI: 1:CAS:528:DC%2BD2MXhtVWitbrI, PID: 16159729
-
Zheng R, Bu DF, Zhu XJ (2005) Compound heterozygosity for new splice site mutations in the plakophilin 1 gene (PKP1) in a Chinese case of ectodermal dysplasia-skin fragility syndrome. Acta Derm Venereol 85:394–399
-
(2005)
Acta Derm Venereol
, vol.85
, pp. 394-399
-
-
Zheng, R.1
Bu, D.F.2
Zhu, X.J.3
-
205
-
-
79959699543
-
Mutation in ribosomal protein L21 underlies hereditary hypotrichosis simplex
-
COI: 1:CAS:528:DC%2BC3MXotVehur8%3D, PID: 21412954
-
Zhou C, Zang D, Jin Y, Wu H, Liu Z, Du J, Zhang J (2011) Mutation in ribosomal protein L21 underlies hereditary hypotrichosis simplex. Hum Mutat 32:710–714
-
(2011)
Hum Mutat
, vol.32
, pp. 710-714
-
-
Zhou, C.1
Zang, D.2
Jin, Y.3
Wu, H.4
Liu, Z.5
Du, J.6
Zhang, J.7
-
206
-
-
0034036739
-
Differential mechanisms of LEF/TCF family-dependent transcriptional activation by beta-catenin and plakoglobin
-
COI: 1:CAS:528:DC%2BD3cXjvFWrs70%3D, PID: 10825188
-
Zhurinsky J, Shtutman M, Ben-Ze’ev A (2000) Differential mechanisms of LEF/TCF family-dependent transcriptional activation by beta-catenin and plakoglobin. Mol Cell Biol 20:4238–4252
-
(2000)
Mol Cell Biol
, vol.20
, pp. 4238-4252
-
-
Zhurinsky, J.1
Shtutman, M.2
Ben-Ze’ev, A.3
-
207
-
-
33745547060
-
An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosis
-
COI: 1:CAS:528:DC%2BD28Xls1Ghtr8%3D, PID: 16575393
-
Zlotogorski A, Marek D, Horev L, Abu A, Ben-Amitai D, Gerad L, Ingber A, Frydman M, Reznik-Wolf H, Vardy DA, Pras E (2006) An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosis. J Invest Dermatol 126:1292–1296
-
(2006)
J Invest Dermatol
, vol.126
, pp. 1292-1296
-
-
Zlotogorski, A.1
Marek, D.2
Horev, L.3
Abu, A.4
Ben-Amitai, D.5
Gerad, L.6
Ingber, A.7
Frydman, M.8
Reznik-Wolf, H.9
Vardy, D.A.10
Pras, E.11
|