-
1
-
-
39849097562
-
Desmosome structure, composition and function
-
D. Garrod, and M. Chidgey Desmosome structure, composition and function Biochim Biophys Acta 1778 2008 572 587
-
(2008)
Biochim Biophys Acta
, vol.1778
, pp. 572-587
-
-
Garrod, D.1
Chidgey, M.2
-
2
-
-
0344559106
-
De novo formation of desmosomes in cultured cells upon transfection of genes encoding specific desmosomal components
-
J. Koeser, S.M. Troyanovsky, C. Grund, and W.W. Franke De novo formation of desmosomes in cultured cells upon transfection of genes encoding specific desmosomal components Exp Cell Res 285 2003 114 130
-
(2003)
Exp Cell Res
, vol.285
, pp. 114-130
-
-
Koeser, J.1
Troyanovsky, S.M.2
Grund, C.3
Franke, W.W.4
-
3
-
-
0029798055
-
Distinct desmocollin isoforms occur in the same desmosomes and show reciprocally graded distributions in bovine nasal epidermis
-
A.J. North, M.A. Chidgey, J.P. Clarke, W.G. Bardsley, and D.R. Garrod 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 1996 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
-
4
-
-
31344461886
-
The area composita of adhering junctions connecting heart muscle cells of vertebrates. I. Molecular definition in intercalated disks of cardiomyocytes by immunoelectron microscopy of desmosomal proteins
-
W.W. Franke, C.M. Borrmann, C. Grund, and S. Pieperhoff The area composita of adhering junctions connecting heart muscle cells of vertebrates. I. Molecular definition in intercalated disks of cardiomyocytes by immunoelectron microscopy of desmosomal proteins Eur J Cell Biol 85 2006 69 82
-
(2006)
Eur J Cell Biol
, vol.85
, pp. 69-82
-
-
Franke, W.W.1
Borrmann, C.M.2
Grund, C.3
Pieperhoff, S.4
-
5
-
-
33646555794
-
The area composita of adhering junctions connecting heart muscle cells of vertebrates. II. Colocalizations of desmosomal and fascia adhaerens molecules in the intercalated disk
-
C.M. Borrmann, C. Grund, C. Kuhn, I. Hofmann, S. Pieperhoff, and W.W. Franke The area composita of adhering junctions connecting heart muscle cells of vertebrates. II. Colocalizations of desmosomal and fascia adhaerens molecules in the intercalated disk Eur J Cell Biol 85 2006 469 485
-
(2006)
Eur J Cell Biol
, vol.85
, pp. 469-485
-
-
Borrmann, C.M.1
Grund, C.2
Kuhn, C.3
Hofmann, I.4
Pieperhoff, S.5
Franke, W.W.6
-
6
-
-
79960805540
-
Population-prevalent desmosomal mutations predisposing to arrhythmogenic right ventricular cardiomyopathy
-
A.M. Lahtinen, E. Lehtonen, A. Marjamaa, M. Kaartinen, T. Heliö, and K. Porthan Population-prevalent desmosomal mutations predisposing to arrhythmogenic right ventricular cardiomyopathy Heart Rhythm 8 2011 1214 1221
-
(2011)
Heart Rhythm
, vol.8
, pp. 1214-1221
-
-
Lahtinen, A.M.1
Lehtonen, E.2
Marjamaa, A.3
Kaartinen, M.4
Heliö, T.5
Porthan, K.6
-
7
-
-
33751064263
-
Desmocollin switching in colorectal cancer
-
K. Khan, R. Hardy, A. Haq, O. Ogunbiyi, D. Morton, and M. Chidgey Desmocollin switching in colorectal cancer Br J Cancer 95 2006 1367 1370
-
(2006)
Br J Cancer
, vol.95
, pp. 1367-1370
-
-
Khan, K.1
Hardy, R.2
Haq, A.3
Ogunbiyi, O.4
Morton, D.5
Chidgey, M.6
-
8
-
-
33644877242
-
Epigenetic silencing of DSC3 is a common event in human breast cancer
-
M.M. Oshiro, C.J. Kim, R.J. Wozniak, D.J. Junk, J.L. Munoz-Rodriguez, and J.A. Burr Epigenetic silencing of DSC3 is a common event in human breast cancer Breast Cancer Res 7 2005 R669 R680
-
(2005)
Breast Cancer Res
, vol.7
-
-
Oshiro, M.M.1
Kim, C.J.2
Wozniak, R.J.3
Junk, D.J.4
Munoz-Rodriguez, J.L.5
Burr, J.A.6
-
9
-
-
0242708723
-
Expression of desmosomal proteins in squamous cell carcinomas of the skin
-
H. Kurzen, I. Münzing, and W. Hartschuh Expression of desmosomal proteins in squamous cell carcinomas of the skin J Cutan Pathol 30 2003 621 630
-
(2003)
J Cutan Pathol
, vol.30
, pp. 621-630
-
-
Kurzen, H.1
Münzing, I.2
Hartschuh, W.3
-
10
-
-
33846309616
-
DSG3 is overexpressed in head neck cancer and is a potential molecular target for inhibition of oncogenesis
-
Y.J. Chen, J.T. Chang, L. Lee, H.M. Wang, C.T. Liao, and C.C. Chiu DSG3 is overexpressed in head neck cancer and is a potential molecular target for inhibition of oncogenesis Oncogene 26 2007 467 476
-
(2007)
Oncogene
, vol.26
, pp. 467-476
-
-
Chen, Y.J.1
Chang, J.T.2
Lee, L.3
Wang, H.M.4
Liao, C.T.5
Chiu, C.C.6
-
11
-
-
26044434091
-
Desmoglein 2 is expressed abnormally rather than mutated in familial and sporadic gastric cancer
-
K. Biedermann, H. Vogelsang, I. Becker, S. Plaschke, J.R. Siewert, and H. Höfler Desmoglein 2 is expressed abnormally rather than mutated in familial and sporadic gastric cancer J Pathol 207 2005 199 206
-
(2005)
J Pathol
, vol.207
, pp. 199-206
-
-
Biedermann, K.1
Vogelsang, H.2
Becker, I.3
Plaschke, S.4
Siewert, J.R.5
Höfler, H.6
-
12
-
-
66749130153
-
Increased expression of Dsg2 in malignant skin carcinomas: A tissue-microarray based study
-
D. Brennan, and M.G. Mahoney Increased expression of Dsg2 in malignant skin carcinomas: a tissue-microarray based study Cell Adh Migr 3 2009 148 154
-
(2009)
Cell Adh Migr
, vol.3
, pp. 148-154
-
-
Brennan, D.1
Mahoney, M.G.2
-
13
-
-
33748117767
-
Decreased expression of the adhesion molecule desmoglein-2 is associated with diffuse-type gastric carcinoma
-
M. Yashiro, N. Nishioka, and K. Hirakawa Decreased expression of the adhesion molecule desmoglein-2 is associated with diffuse-type gastric carcinoma Eur J Cancer 42 2006 2397 2403
-
(2006)
Eur J Cancer
, vol.42
, pp. 2397-2403
-
-
Yashiro, M.1
Nishioka, N.2
Hirakawa, K.3
-
14
-
-
77952015221
-
Desmosomal plakophilins in the prostate and prostatic adenocarcinomas: Implications for diagnosis and tumor progression
-
S. Breuninger, S. Reidenbach, C. Georg Sauer, P. Ströbel, J. Pfitzenmaier, and L. Trojan Desmosomal plakophilins in the prostate and prostatic adenocarcinomas: implications for diagnosis and tumor progression Am J Pathol 176 2010 2509 2519
-
(2010)
Am J Pathol
, vol.176
, pp. 2509-2519
-
-
Breuninger, S.1
Reidenbach, S.2
Georg Sauer, C.3
Ströbel, P.4
Pfitzenmaier, J.5
Trojan, L.6
-
15
-
-
23844536766
-
Plakophilin 3 oncogene as prognostic marker and therapeutic target for lung cancer
-
C. Furukawa, Y. Daigo, N. Ishikawa, T. Kato, T. Ito, and E. Tsuchiya Plakophilin 3 oncogene as prognostic marker and therapeutic target for lung cancer Cancer Res 65 2005 7102 7110
-
(2005)
Cancer Res
, vol.65
, pp. 7102-7110
-
-
Furukawa, C.1
Daigo, Y.2
Ishikawa, N.3
Kato, T.4
Ito, T.5
Tsuchiya, E.6
-
16
-
-
68349145959
-
Altered desmoplakin expression at transcriptional and protein levels provides prognostic information in human oropharyngeal cancer
-
S. Papagerakis, A.-H. Shabana, B.H. Pollock, P. Papagerakis, J. Depondt, and A. Berdal Altered desmoplakin expression at transcriptional and protein levels provides prognostic information in human oropharyngeal cancer Hum Pathol 40 2009 1320 1329
-
(2009)
Hum Pathol
, vol.40
, pp. 1320-1329
-
-
Papagerakis, S.1
Shabana, A.-H.2
Pollock, B.H.3
Papagerakis, P.4
Depondt, J.5
Berdal, A.6
-
17
-
-
79955405868
-
Desmosomes: New perpetrators in tumour suppression
-
R.L. Dusek, and L.D. Attardi Desmosomes: new perpetrators in tumour suppression Nat Rev Cancer 11 2011 317 323
-
(2011)
Nat Rev Cancer
, vol.11
, pp. 317-323
-
-
Dusek, R.L.1
Attardi, L.D.2
-
18
-
-
20144387234
-
Functional loss of the γ-catenin gene through epigenetic and genetic pathways in human prostate cancer
-
H. Shiina, J.E. Breault, W.W. Basset, H. Enokida, S. Urakami, and L.-C. Li Functional loss of the γ-catenin gene through epigenetic and genetic pathways in human prostate cancer Cancer Res 65 2005 2130 2138
-
(2005)
Cancer Res
, vol.65
, pp. 2130-2138
-
-
Shiina, H.1
Breault, J.E.2
Basset, W.W.3
Enokida, H.4
Urakami, S.5
Li, L.-C.6
-
19
-
-
0033053116
-
Beta- and gamma-catenin mutations, but not E-cadherin inactivation, underlie T-cell factor/lymphoid enhancer factor transcriptional deregulation in gastric and pancreatic cancer
-
K. Caca, F.T. Kolligs, X. Ji, M. Hayes, J. Qian, and A. Yahanda Beta- and gamma-catenin mutations, but not E-cadherin inactivation, underlie T-cell factor/lymphoid enhancer factor transcriptional deregulation in gastric and pancreatic cancer Cell Growth Differ 10 1999 369 376
-
(1999)
Cell Growth Differ
, vol.10
, pp. 369-376
-
-
Caca, K.1
Kolligs, F.T.2
Ji, X.3
Hayes, M.4
Qian, J.5
Yahanda, A.6
-
20
-
-
0033491910
-
Molecular map of the desmosomal plaque
-
A. North, W. Bardsley, J. Hyam, E. Bornslaeger, H. Cordingley, and B. Trinnaman Molecular map of the desmosomal plaque J Cell Sci 112 1999 4325 4336
-
(1999)
J Cell Sci
, vol.112
, pp. 4325-4336
-
-
North, A.1
Bardsley, W.2
Hyam, J.3
Bornslaeger, E.4
Cordingley, H.5
Trinnaman, B.6
-
21
-
-
36849060240
-
The molecular architecture of cadherins in native epidermal desmosomes
-
A. Al-Amoudi, D.C. Diez, M.J. Betts, and A.S. Frangakis The molecular architecture of cadherins in native epidermal desmosomes Nature 450 2007 832 837
-
(2007)
Nature
, vol.450
, pp. 832-837
-
-
Al-Amoudi, A.1
Diez, D.C.2
Betts, M.J.3
Frangakis, A.S.4
-
22
-
-
77952542131
-
Tissue section AFM: In situ ultrastructural imaging of native biomolecules
-
H.K. Graham, N.W. Hodson, J.A. Hoyland, S.J. Millward-Sadler, D. Garrod, and A. Scothern Tissue section AFM: in situ ultrastructural imaging of native biomolecules Matrix Biol 29 2010 254 260
-
(2010)
Matrix Biol
, vol.29
, pp. 254-260
-
-
Graham, H.K.1
Hodson, N.W.2
Hoyland, J.A.3
Millward-Sadler, S.J.4
Garrod, D.5
Scothern, A.6
-
23
-
-
0141865704
-
Untangling desmosomal knots with electron tomography
-
W. He, P. Cowin, and D.L. Stokes Untangling desmosomal knots with electron tomography Science 302 2003 109 113
-
(2003)
Science
, vol.302
, pp. 109-113
-
-
He, W.1
Cowin, P.2
Stokes, D.L.3
-
24
-
-
84880812048
-
Hinged plakin domains provide specialized degrees of articulation in envoplakin, periplakin and desmoplakin
-
C. Al-Jassar, P. Bernadó, M. Overduin, and M. Chidgey Hinged plakin domains provide specialized degrees of articulation in envoplakin, periplakin and desmoplakin PLoS One 8 7 2013 e69767
-
(2013)
PLoS One
, vol.8
, Issue.7
, pp. 69767
-
-
Al-Jassar, C.1
Bernadó, P.2
Overduin, M.3
Chidgey, M.4
-
25
-
-
15444370672
-
Nanostructure of the epidermal extracellular space as observed by cryo-electron microscopy of vitreous sections of human skin
-
A. Al-Amoudi, J. Dubochet, and L. Norlen Nanostructure of the epidermal extracellular space as observed by cryo-electron microscopy of vitreous sections of human skin J Invest Dermatol 124 2005 764 777
-
(2005)
J Invest Dermatol
, vol.124
, pp. 764-777
-
-
Al-Amoudi, A.1
Dubochet, J.2
Norlen, L.3
-
26
-
-
20844438496
-
Cryo-electron microscopy of vitreous sections
-
A. Al-Amoudi, J.-J. Chang, A. Leforestier, A. McDowall, L.M. Salamin, and L.P.O. Norlen Cryo-electron microscopy of vitreous sections EMBO J 23 2004 3583 3588
-
(2004)
EMBO J
, vol.23
, pp. 3583-3588
-
-
Al-Amoudi, A.1
Chang, J.-J.2
Leforestier, A.3
McDowall, A.4
Salamin, L.M.5
Norlen, L.P.O.6
-
27
-
-
79955639490
-
The three-dimensional molecular structure of the desmosomal plaque
-
A. Al-Amoudi, D. Castaño-Diez, D.P. Devos, R.B. Russell, G.T. Johnson, and A.S. Frangakis The three-dimensional molecular structure of the desmosomal plaque Proc Natl Acad Sci U S A 108 2011 6480 6485
-
(2011)
Proc Natl Acad Sci U S A
, vol.108
, pp. 6480-6485
-
-
Al-Amoudi, A.1
Castaño-Diez, D.2
Devos, D.P.3
Russell, R.B.4
Johnson, G.T.5
Frangakis, A.S.6
-
29
-
-
0029980542
-
Structural basis of calcium-induced E-cadherin rigidification and dimerization
-
B. Nagar, M. Overduin, M. Ikura, and J.M. Rini Structural basis of calcium-induced E-cadherin rigidification and dimerization Nature 380 1996 360 364
-
(1996)
Nature
, vol.380
, pp. 360-364
-
-
Nagar, B.1
Overduin, M.2
Ikura, M.3
Rini, J.M.4
-
30
-
-
0028956981
-
Solution structure of the epithelial cadherin domain responsible for selective cell adhesion
-
M. Overduin, T. Harvey, S. Bagby, K. Tong, P. Yau, and M. Takeichi Solution structure of the epithelial cadherin domain responsible for selective cell adhesion Science 267 1995 386 389
-
(1995)
Science
, vol.267
, pp. 386-389
-
-
Overduin, M.1
Harvey, T.2
Bagby, S.3
Tong, K.4
Yau, P.5
Takeichi, M.6
-
31
-
-
0028986780
-
Structural basis of cell-cell adhesion by cadherins
-
L. Shapiro, A.M. Fannon, P.D. Kwong, A. Thompson, M.S. Lehmann, and G. Grubel Structural basis of cell-cell adhesion by cadherins Nature 374 1995 327 337
-
(1995)
Nature
, vol.374
, pp. 327-337
-
-
Shapiro, L.1
Fannon, A.M.2
Kwong, P.D.3
Thompson, A.4
Lehmann, M.S.5
Grubel, G.6
-
32
-
-
0037123593
-
C-cadherin ectodomain structure and implications for cell adhesion mechanisms
-
T.J. Boggon, J. Murray, S. Chappuis-Flament, E. Wong, B.M. Gumbiner, and L. Shapiro C-cadherin ectodomain structure and implications for cell adhesion mechanisms Science 296 2002 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
-
33
-
-
79551699994
-
The extracellular architecture of adherens junctions revealed by crystal structures of type i cadherins
-
O.J. Harrison, X. Jin, S. Hong, F. Bahna, G. Ahlsen, and J. Brasch The extracellular architecture of adherens junctions revealed by crystal structures of type I cadherins Structure 19 2011 244 256
-
(2011)
Structure
, vol.19
, pp. 244-256
-
-
Harrison, O.J.1
Jin, X.2
Hong, S.3
Bahna, F.4
Ahlsen, G.5
Brasch, J.6
-
35
-
-
78751494023
-
Membrane-impermeable cross-linking provides evidence for homophilic, isoform-specific binding of desmosomal cadherins in epithelial cells
-
Z. Nie, A. Merritt, M. Rouhi-Parkouhi, L. Tabernero, and D. Garrod Membrane-impermeable cross-linking provides evidence for homophilic, isoform-specific binding of desmosomal cadherins in epithelial cells J Biol Chem 286 2011 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
-
36
-
-
67650886055
-
Linking molecular affinity and cellular specificity in cadherin-mediated adhesion
-
P. Katsamba, K. Carroll, G. Ahlsen, F. Bahna, J. Vendome, and S. Posy Linking molecular affinity and cellular specificity in cadherin-mediated adhesion Proc Natl Acad Sci U S A 106 2009 11594 11599
-
(2009)
Proc Natl Acad Sci U S A
, vol.106
, pp. 11594-11599
-
-
Katsamba, P.1
Carroll, K.2
Ahlsen, G.3
Bahna, F.4
Vendome, J.5
Posy, S.6
-
37
-
-
78049258456
-
Cooperativity between trans and cis interactions in cadherin-mediated junction formation
-
Y. Wu, X. Jin, O. Harrison, L. Shapiro, B.H. Honig, and A. Ben-Shaul Cooperativity between trans and cis interactions in cadherin-mediated junction formation Proc Natl Acad Sci U S A 107 2010 17592 17597
-
(2010)
Proc Natl Acad Sci U S A
, vol.107
, pp. 17592-17597
-
-
Wu, Y.1
Jin, X.2
Harrison, O.3
Shapiro, L.4
Honig, B.H.5
Ben-Shaul, A.6
-
38
-
-
0015551580
-
Membrane ultrastructure at mammalian intercellular junctions
-
N.S. McNutt, and R.S. Weinstein Membrane ultrastructure at mammalian intercellular junctions Prog Biophys Mol Biol 26 1973 45 101
-
(1973)
Prog Biophys Mol Biol
, vol.26
, pp. 45-101
-
-
McNutt, N.S.1
Weinstein, R.S.2
-
39
-
-
0000752197
-
Junctional complexes in various epithelia
-
M.G. Farquhar, and G.E. Palade Junctional complexes in various epithelia J Cell Biol 17 1963 375 412
-
(1963)
J Cell Biol
, vol.17
, pp. 375-412
-
-
Farquhar, M.G.1
Palade, G.E.2
-
40
-
-
0014668128
-
Carcinoma of the cervix: Deficiency of nexus intercellular junctions
-
N.S. McNutt, and R.S. Weinstein Carcinoma of the cervix: deficiency of nexus intercellular junctions Science 165 1969 597 599
-
(1969)
Science
, vol.165
, pp. 597-599
-
-
McNutt, N.S.1
Weinstein, R.S.2
-
41
-
-
0034465924
-
Ultrastructure of the zonula adherens revealed by rapid-freeze deep-etching
-
K. Miyaguchi Ultrastructure of the zonula adherens revealed by rapid-freeze deep-etching J Struct Biol 132 2000 169 178
-
(2000)
J Struct Biol
, vol.132
, pp. 169-178
-
-
Miyaguchi, K.1
-
42
-
-
21644435545
-
Coordinated expression of desmoglein 1 and desmocollin 1 regulates intercellular adhesion
-
S. Getsios, E.V. Amargo, R.L. Dusek, K. Ishii, L. Sheu, and L.M. Godsel Coordinated expression of desmoglein 1 and desmocollin 1 regulates intercellular adhesion Differentiation 72 2004 419 433
-
(2004)
Differentiation
, vol.72
, pp. 419-433
-
-
Getsios, S.1
Amargo, E.V.2
Dusek, R.L.3
Ishii, K.4
Sheu, L.5
Godsel, L.M.6
-
43
-
-
0030610137
-
Direct Ca2 +-dependent heterophilic interaction between desmosomal cadherins, desmoglein and desmocollin, contributes to cell-cell adhesion
-
N.A. Chitaev, and S.M. Troyanovsky Direct Ca2 +-dependent heterophilic interaction between desmosomal cadherins, desmoglein and desmocollin, contributes to cell-cell adhesion J Cell Biol 138 1997 193 201
-
(1997)
J Cell Biol
, vol.138
, pp. 193-201
-
-
Chitaev, N.A.1
Troyanovsky, S.M.2
-
44
-
-
0022787708
-
Splitting and internalization of the desmosomes of cultured kidney epithelial cells by reduction in calcium concentration
-
D.L. Mattey, and D.R. Garrod Splitting and internalization of the desmosomes of cultured kidney epithelial cells by reduction in calcium concentration J Cell Sci 85 1986 113 124
-
(1986)
J Cell Sci
, vol.85
, pp. 113-124
-
-
Mattey, D.L.1
Garrod, D.R.2
-
45
-
-
84856367990
-
Crystal structures of Drosophila N-cadherin ectodomain regions reveal a widely used class of Ca2 +-free interdomain linkers
-
X. Jin, M.A. Walker, K. Felsövályi, J. Vendome, F. Bahna, and S. Mannepalli Crystal structures of Drosophila N-cadherin ectodomain regions reveal a widely used class of Ca2 +-free interdomain linkers Proc Natl Acad Sci U S A 109 2012 E127 E134
-
(2012)
Proc Natl Acad Sci U S A
, vol.109
-
-
Jin, X.1
Walker, M.A.2
Felsövályi, K.3
Vendome, J.4
Bahna, F.5
Mannepalli, S.6
-
46
-
-
84870534867
-
Structure of a force-conveying cadherin bond essential for inner-ear mechanotransduction
-
M. Sotomayor, W.A. Weihofen, R. Gaudet, and D.P. Corey Structure of a force-conveying cadherin bond essential for inner-ear mechanotransduction Nature 492 2012 128 132
-
(2012)
Nature
, vol.492
, pp. 128-132
-
-
Sotomayor, M.1
Weihofen, W.A.2
Gaudet, R.3
Corey, D.P.4
-
47
-
-
69549138124
-
A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy
-
P.A. van der Zwaag, J.D. Jongbloed, M.P. van den Berg, J.J. van der Smagt, R. Jongbloed, and H. Bikker A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy Hum Mutat 30 2009 1278 1283
-
(2009)
Hum Mutat
, vol.30
, pp. 1278-1283
-
-
Van Der Zwaag, P.A.1
Jongbloed, J.D.2
Van Den Berg, M.P.3
Van Der Smagt, J.J.4
Jongbloed, R.5
Bikker, H.6
-
48
-
-
77952971659
-
Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: Spectrum of mutations and clinical impact in practice
-
V. Fressart, G. Duthoit, E. Donal, V. Probst, J.-C. Deharo, and P. Chevalier Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice Europace 12 2010 861 868
-
(2010)
Europace
, vol.12
, pp. 861-868
-
-
Fressart, V.1
Duthoit, G.2
Donal, E.3
Probst, V.4
Deharo, J.-C.5
Chevalier, P.6
-
49
-
-
34249657898
-
Desmoglein-2 mutations in arrhythmogenic right ventricular cardiomyopathy: A genotype-phenotype characterization of familial disease
-
P. Syrris, D. Ward, A. Asimaki, A. Evans, S. Sen-Chowdhry, and S.E. Hughes Desmoglein-2 mutations in arrhythmogenic right ventricular cardiomyopathy: a genotype-phenotype characterization of familial disease Eur Heart J 28 2007 581 588
-
(2007)
Eur Heart J
, vol.28
, pp. 581-588
-
-
Syrris, P.1
Ward, D.2
Asimaki, A.3
Evans, A.4
Sen-Chowdhry, S.5
Hughes, S.E.6
-
50
-
-
33745231792
-
DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy
-
M.M. Awad, D. Dalal, E. Cho, N. Amat-Alarcon, C. James, and C. Tichnell DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy Am J Hum Genet 79 2006 136 142
-
(2006)
Am J Hum Genet
, vol.79
, pp. 136-142
-
-
Awad, M.M.1
Dalal, D.2
Cho, E.3
Amat-Alarcon, N.4
James, C.5
Tichnell, C.6
-
51
-
-
33748056793
-
Ultrastructural evidence of intercalated disc remodelling in arrhythmogenic right ventricular cardiomyopathy: An electron microscopy investigation on endomyocardial biopsies
-
C. Basso, E. Czarnowska, M. Della Barbera, B. Bauce, G. Beffagna, and E.K. Wlodarska Ultrastructural evidence of intercalated disc remodelling in arrhythmogenic right ventricular cardiomyopathy: an electron microscopy investigation on endomyocardial biopsies Eur Heart J 27 2006 1847 1854
-
(2006)
Eur Heart J
, vol.27
, pp. 1847-1854
-
-
Basso, C.1
Czarnowska, E.2
Della Barbera, M.3
Bauce, B.4
Beffagna, G.5
Wlodarska, E.K.6
-
52
-
-
77949878973
-
Desmoglein-2 and desmocollin-2 mutations in dutch arrhythmogenic right ventricular dysplasia/cardiomypathy patients: Results from a multicenter study
-
Z.A. Bhuiyan, J.D. Jongbloed, J. van der Smagt, P.M. Lombardi, A.C. Wiesfeld, and M. Nelen Desmoglein-2 and desmocollin-2 mutations in dutch arrhythmogenic right ventricular dysplasia/cardiomypathy patients: results from a multicenter study Circ Cardiovasc Genet 2 2009 418 427
-
(2009)
Circ Cardiovasc Genet
, vol.2
, pp. 418-427
-
-
Bhuiyan, Z.A.1
Jongbloed, J.D.2
Van Der Smagt, J.3
Lombardi, P.M.4
Wiesfeld, A.C.5
Nelen, M.6
-
53
-
-
33645527574
-
Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy
-
K. Pilichou, A. Nava, C. Basso, G. Beffagna, B. Bauce, and A. Lorenzon Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy Circulation 113 2006 1171 1179
-
(2006)
Circulation
, vol.113
, pp. 1171-1179
-
-
Pilichou, K.1
Nava, A.2
Basso, C.3
Beffagna, G.4
Bauce, B.5
Lorenzon, A.6
-
54
-
-
75249083039
-
Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy
-
T. Xu, Z. Yang, M. Vatta, A. Rampazzo, G. Beffagna, and K. Pillichou Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy J Am Coll Cardiol 55 2010 587 597
-
(2010)
J Am Coll Cardiol
, vol.55
, pp. 587-597
-
-
Xu, T.1
Yang, Z.2
Vatta, M.3
Rampazzo, A.4
Beffagna, G.5
Pillichou, K.6
-
55
-
-
80054973486
-
Clinical phenotype and diagnosis of arrhythmogenic right ventricular cardiomyopathy in pediatric patients carrying desmosomal gene mutations
-
B. Bauce, A. Rampazzo, C. Basso, E. Mazzotti, I. Rigato, and A. Steriotis Clinical phenotype and diagnosis of arrhythmogenic right ventricular cardiomyopathy in pediatric patients carrying desmosomal gene mutations Heart Rhythm 8 2011 1686 1695
-
(2011)
Heart Rhythm
, vol.8
, pp. 1686-1695
-
-
Bauce, B.1
Rampazzo, A.2
Basso, C.3
Mazzotti, E.4
Rigato, I.5
Steriotis, A.6
-
56
-
-
68149149500
-
Myocyte necrosis underlies progressive myocardial dystrophy in mouse dsg2-related arrhythmogenic right ventricular cardiomyopathy
-
K. Pilichou, C.A. Remme, C. Basso, M.E. Campian, S. Rizzo, and P. Barnett Myocyte necrosis underlies progressive myocardial dystrophy in mouse dsg2-related arrhythmogenic right ventricular cardiomyopathy J Exp Med 206 2009 1787 1802
-
(2009)
J Exp Med
, vol.206
, pp. 1787-1802
-
-
Pilichou, K.1
Remme, C.A.2
Basso, C.3
Campian, M.E.4
Rizzo, S.5
Barnett, P.6
-
57
-
-
84865214658
-
Intercalated disc abnormalities, reduced Na(+) current density, and conduction slowing in desmoglein-2 mutant mice prior to cardiomyopathic changes
-
S. Rizzo, E.M. Lodder, A.O. Verkerk, R. Wolswinkel, L. Beekman, and K. Pilichou Intercalated disc abnormalities, reduced Na(+) current density, and conduction slowing in desmoglein-2 mutant mice prior to cardiomyopathic changes Cardiovasc Res 95 2012 409 418
-
(2012)
Cardiovasc Res
, vol.95
, pp. 409-418
-
-
Rizzo, S.1
Lodder, E.M.2
Verkerk, A.O.3
Wolswinkel, R.4
Beekman, L.5
Pilichou, K.6
-
58
-
-
84862753259
-
Histological and ultrastructural abnormalities in murine desmoglein 2-mutant hearts
-
S. Kant, P. Krull, S. Eisner, R.E. Leube, and C.A. Krusche Histological and ultrastructural abnormalities in murine desmoglein 2-mutant hearts Cell Tissue Res 348 2012 249 259
-
(2012)
Cell Tissue Res
, vol.348
, pp. 249-259
-
-
Kant, S.1
Krull, P.2
Eisner, S.3
Leube, R.E.4
Krusche, C.A.5
-
59
-
-
77949908549
-
Comprehensive desmosome mutation analysis in North Americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy
-
A.D. den Haan, B.Y. Tan, M.N. Zikusoka, L.I. Llado, R. Jain, and A. Daly Comprehensive desmosome mutation analysis in North Americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy Circ Cardiovasc Genet 2 2009 428 435
-
(2009)
Circ Cardiovasc Genet
, vol.2
, pp. 428-435
-
-
Den Haan, A.D.1
Tan, B.Y.2
Zikusoka, M.N.3
Llado, L.I.4
Jain, R.5
Daly, A.6
-
60
-
-
50049126401
-
Arrhythmogenic right ventricular dysplasia: Clinical characteristics and identification of novel desmosome gene mutations
-
C.C. Yu, C.H. Yu, C.H. Hsueh, C.T. Yang, J.M. Juang, and J.J. Hwang Arrhythmogenic right ventricular dysplasia: clinical characteristics and identification of novel desmosome gene mutations J Formos Med Assoc 107 2008 548 558
-
(2008)
J Formos Med Assoc
, vol.107
, pp. 548-558
-
-
Yu, C.C.1
Yu, C.H.2
Hsueh, C.H.3
Yang, C.T.4
Juang, J.M.5
Hwang, J.J.6
-
61
-
-
77953809581
-
The P.A897KfsX4 frameshift variation in desmocollin-2 is not a causative mutation in arrhythmogenic right ventricular cardiomyopathy
-
M. De Bortoli, G. Beffagna, B. Bauce, A. Lorenzon, G. Smaniotto, and I. Rigato The p.A897KfsX4 frameshift variation in desmocollin-2 is not a causative mutation in arrhythmogenic right ventricular cardiomyopathy Eur J Hum Genet 18 2010 776 782
-
(2010)
Eur J Hum Genet
, vol.18
, pp. 776-782
-
-
De Bortoli, M.1
Beffagna, G.2
Bauce, B.3
Lorenzon, A.4
Smaniotto, G.5
Rigato, I.6
-
63
-
-
0028031044
-
Identification of the plakoglobin-binding domain in desmoglein and its role in plaque assembly and intermediate filament anchorage
-
S.M. Troyanovsky, R.B. Troyanovsky, L.G. Eshkind, V.A. Krutovskikh, R.E. Leube, and W.W. Franke Identification of the plakoglobin-binding domain in desmoglein and its role in plaque assembly and intermediate filament anchorage J Cell Biol 127 1994 151 160
-
(1994)
J Cell Biol
, vol.127
, pp. 151-160
-
-
Troyanovsky, S.M.1
Troyanovsky, R.B.2
Eshkind, L.G.3
Krutovskikh, V.A.4
Leube, R.E.5
Franke, W.W.6
-
64
-
-
77957271158
-
Novel missense mutations in exon 15 of desmoglein-2: Role of the intracellular cadherin segment in arrhythmogenic right ventricular cardiomyopathy?
-
K. Gehmlich, A. Asimaki, T.J. Cahill, E. Ehler, P. Syrris, and E. Zachara Novel missense mutations in exon 15 of desmoglein-2: role of the intracellular cadherin segment in arrhythmogenic right ventricular cardiomyopathy? Heart Rhythm 7 2010 1446 1453
-
(2010)
Heart Rhythm
, vol.7
, pp. 1446-1453
-
-
Gehmlich, K.1
Asimaki, A.2
Cahill, T.J.3
Ehler, E.4
Syrris, P.5
Zachara, E.6
-
65
-
-
59149091385
-
The desmoglein-specific cytoplasmic region is intrinsically disordered in solution and interacts with multiple desmosomal protein partners
-
K. Kami, M. Chidgey, T. Dafforn, and M. Overduin The desmoglein-specific cytoplasmic region is intrinsically disordered in solution and interacts with multiple desmosomal protein partners J Mol Biol 386 2009 531 543
-
(2009)
J Mol Biol
, vol.386
, pp. 531-543
-
-
Kami, K.1
Chidgey, M.2
Dafforn, T.3
Overduin, M.4
-
66
-
-
0028081536
-
Visualisation by electron microscopy of the unique part of the cytoplasmic domain of a desmoglein, a cadherin-like protein of the desmosome type of cell junction
-
A.J. Rutman, R.S. Buxton, and I.D. Burdett Visualisation by electron microscopy of the unique part of the cytoplasmic domain of a desmoglein, a cadherin-like protein of the desmosome type of cell junction FEBS Lett 353 1994 194 196
-
(1994)
FEBS Lett
, vol.353
, pp. 194-196
-
-
Rutman, A.J.1
Buxton, R.S.2
Burdett, I.D.3
-
67
-
-
84871950525
-
The C-terminal unique region of desmoglein 2 inhibits its internalization via tail-tail interactions
-
J. Chen, O.E. Nekrasova, D.M. Patel, J.L. Klessner, L.M. Godsel, and J.L. Koetsier The C-terminal unique region of desmoglein 2 inhibits its internalization via tail-tail interactions J Cell Biol 199 2012 699 711
-
(2012)
J Cell Biol
, vol.199
, pp. 699-711
-
-
Chen, J.1
Nekrasova, O.E.2
Patel, D.M.3
Klessner, J.L.4
Godsel, L.M.5
Koetsier, J.L.6
-
68
-
-
79952824337
-
Shared desmosome gene findings in early and late onset arrhythmogenic right ventricular dysplasia/cardiomyopathy
-
B.Y. Tan, R. Jain, A.D. den Haan, Y. Chen, D. Dalal, and H. Tandri Shared desmosome gene findings in early and late onset arrhythmogenic right ventricular dysplasia/cardiomyopathy J Cardiovasc Transl Res 3 2010 663 673
-
(2010)
J Cardiovasc Transl Res
, vol.3
, pp. 663-673
-
-
Tan, B.Y.1
Jain, R.2
Den Haan, A.D.3
Chen, Y.4
Dalal, D.5
Tandri, H.6
-
69
-
-
78149361865
-
Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy
-
A.H. Christensen, M. Benn, H. Bundgaard, A. Tybjaerg-Hansen, S. Haunso, and J.H. Svendsen Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy J Med Genet 47 2010 736 744
-
(2010)
J Med Genet
, vol.47
, pp. 736-744
-
-
Christensen, A.H.1
Benn, M.2
Bundgaard, H.3
Tybjaerg-Hansen, A.4
Haunso, S.5
Svendsen, J.H.6
-
70
-
-
77449142413
-
Induction of hyper-adhesion attenuates autoimmune-induced keratinocyte cell-cell detachment and processing of adhesion molecules via mechanisms that involve PKC
-
N. Cirillo, A. Lanza, and S.S. Prime Induction of hyper-adhesion attenuates autoimmune-induced keratinocyte cell-cell detachment and processing of adhesion molecules via mechanisms that involve PKC Exp Cell Res 316 2010 580 592
-
(2010)
Exp Cell Res
, vol.316
, pp. 580-592
-
-
Cirillo, N.1
Lanza, A.2
Prime, S.S.3
-
71
-
-
33947191090
-
Calcium-independent desmosomes of keratinocytes are hyper-adhesive
-
T.E. Kimura, A.J. Merritt, and D.R. Garrod Calcium-independent desmosomes of keratinocytes are hyper-adhesive J Invest Dermatol 127 2007 775 781
-
(2007)
J Invest Dermatol
, vol.127
, pp. 775-781
-
-
Kimura, T.E.1
Merritt, A.J.2
Garrod, D.R.3
-
72
-
-
34347403192
-
Phosphopeptide enrichment by aliphatic hydroxy acid-modified metal oxide chromatography for nano-LC-MS/MS in proteomics applications
-
N. Sugiyama, T. Masuda, K. Shinoda, A. Nakamura, M. Tomita, and Y. Ishihama Phosphopeptide enrichment by aliphatic hydroxy acid-modified metal oxide chromatography for nano-LC-MS/MS in proteomics applications Mol Cell Proteomics 6 2007 1103 1109
-
(2007)
Mol Cell Proteomics
, vol.6
, pp. 1103-1109
-
-
Sugiyama, N.1
Masuda, T.2
Shinoda, K.3
Nakamura, A.4
Tomita, M.5
Ishihama, Y.6
-
73
-
-
26844486610
-
Phosphoproteome analysis of HeLa cells using stable isotope labeling with amino acids in cell culture (SILAC)
-
R. Amanchy, D.E. Kalume, A. Iwahori, J. Zhong, and A. Pandey Phosphoproteome analysis of HeLa cells using stable isotope labeling with amino acids in cell culture (SILAC) J Proteome Res 4 2005 1661 1671
-
(2005)
J Proteome Res
, vol.4
, pp. 1661-1671
-
-
Amanchy, R.1
Kalume, D.E.2
Iwahori, A.3
Zhong, J.4
Pandey, A.5
-
74
-
-
33750456519
-
Global, in vivo, and site-specific phosphorylation dynamics in signaling networks
-
J.V. Olsen, B. Blagoev, F. Gnad, B. Macek, C. Kumar, and P. Mortensen Global, in vivo, and site-specific phosphorylation dynamics in signaling networks Cell 127 2006 635 648
-
(2006)
Cell
, vol.127
, pp. 635-648
-
-
Olsen, J.V.1
Blagoev, B.2
Gnad, F.3
Macek, B.4
Kumar, C.5
Mortensen, P.6
-
75
-
-
0034020357
-
The alpha isoform of protein kinase C is involved in signaling the response of desmosomes to wounding in cultured epithelial cells
-
S. Wallis, S. Lloyd, I. Wise, G. Ireland, T.P. Fleming, and D. Garrod The alpha isoform of protein kinase C is involved in signaling the response of desmosomes to wounding in cultured epithelial cells Mol Biol Cell 11 2000 1077 1092
-
(2000)
Mol Biol Cell
, vol.11
, pp. 1077-1092
-
-
Wallis, S.1
Lloyd, S.2
Wise, I.3
Ireland, G.4
Fleming, T.P.5
Garrod, D.6
-
77
-
-
0034116198
-
Use of autoantigen-knockout mice in developing an active autoimmune disease model for pemphigus
-
M. Amagai, K. Tsunoda, H. Suzuki, K. Nishifuji, S. Koyasu, and T. Nishikawa Use of autoantigen-knockout mice in developing an active autoimmune disease model for pemphigus J Clin Invest 105 2000 625 631
-
(2000)
J Clin Invest
, vol.105
, pp. 625-631
-
-
Amagai, M.1
Tsunoda, K.2
Suzuki, H.3
Nishifuji, K.4
Koyasu, S.5
Nishikawa, T.6
-
78
-
-
0037442123
-
Induction of pemphigus phenotype by a mouse monoclonal antibody against the amino-terminal adhesive interface of desmoglein 3
-
K. Tsunoda, T. Ota, M. Aoki, T. Yamada, T. Nagai, and T. Nakagawa Induction of pemphigus phenotype by a mouse monoclonal antibody against the amino-terminal adhesive interface of desmoglein 3 J Immunol 170 2003 2170 2178
-
(2003)
J Immunol
, vol.170
, pp. 2170-2178
-
-
Tsunoda, K.1
Ota, T.2
Aoki, M.3
Yamada, T.4
Nagai, T.5
Nakagawa, T.6
-
79
-
-
20144387052
-
Genetic and functional characterization of human pemphigus vulgaris monoclonal autoantibodies isolated by phage display
-
A.S. Payne, K. Ishii, S. Kacir, C. Lin, H. Li, and Y. Hanakawa Genetic and functional characterization of human pemphigus vulgaris monoclonal autoantibodies isolated by phage display J Clin Invest 115 2005 888 899
-
(2005)
J Clin Invest
, vol.115
, pp. 888-899
-
-
Payne, A.S.1
Ishii, K.2
Kacir, S.3
Lin, C.4
Li, H.5
Hanakawa, Y.6
-
80
-
-
70349742561
-
Pathogenic anti-desmoglein MAbs show variable ELISA activity because of preferential binding of mature versus proprotein isoforms of desmoglein 3
-
P.M. Sharma, E.J. Choi, K. Kuroda, T. Hachiya, K. Ishii, and A.S. Payne Pathogenic anti-desmoglein MAbs show variable ELISA activity because of preferential binding of mature versus proprotein isoforms of desmoglein 3 J Invest Dermatol 129 2009 2309 2312
-
(2009)
J Invest Dermatol
, vol.129
, pp. 2309-2312
-
-
Sharma, P.M.1
Choi, E.J.2
Kuroda, K.3
Hachiya, T.4
Ishii, K.5
Payne, A.S.6
-
81
-
-
84867156668
-
Pemphigus autoantibodies generated through somatic mutations target the desmoglein-3 cis-interface
-
G. Di Zenzo, G. Di Lullo, D. Corti, V. Calabresi, A. Sinistro, and F. Vanzetta Pemphigus autoantibodies generated through somatic mutations target the desmoglein-3 cis-interface J Clin Invest 122 2012 3781 3790
-
(2012)
J Clin Invest
, vol.122
, pp. 3781-3790
-
-
Di Zenzo, G.1
Di Lullo, G.2
Corti, D.3
Calabresi, V.4
Sinistro, A.5
Vanzetta, F.6
-
82
-
-
77952740197
-
Immune response towards the amino-terminus of desmoglein 1 prevails across different activity stages in nonendemic pemphigus foliaceus
-
P.T. Chan, B. Ohyama, K. Nishifuji, K. Yoshida, K. Ishii, and T. Hashimoto Immune response towards the amino-terminus of desmoglein 1 prevails across different activity stages in nonendemic pemphigus foliaceus Br J Dermatol 162 2010 1242 1250
-
(2010)
Br J Dermatol
, vol.162
, pp. 1242-1250
-
-
Chan, P.T.1
Ohyama, B.2
Nishifuji, K.3
Yoshida, K.4
Ishii, K.5
Hashimoto, T.6
-
83
-
-
84858295531
-
Epitope spreading is rarely found in pemphigus vulgaris by large-scale longitudinal study using desmoglein 2-based swapped molecules
-
B. Ohyama, K. Nishifuji, P.T. Chan, A. Kawaguchi, T. Yamashita, and N. Ishii Epitope spreading is rarely found in pemphigus vulgaris by large-scale longitudinal study using desmoglein 2-based swapped molecules J Invest Dermatol 132 2012 1158 1168
-
(2012)
J Invest Dermatol
, vol.132
, pp. 1158-1168
-
-
Ohyama, B.1
Nishifuji, K.2
Chan, P.T.3
Kawaguchi, A.4
Yamashita, T.5
Ishii, N.6
-
84
-
-
0038281525
-
The role of intramolecular epitope spreading in the pathogenesis of endemic pemphigus foliaceus (fogo selvagem)
-
N. Li, V. Aoki, G. Hans-Filho, E.A. Rivitti, and L.A. Diaz The role of intramolecular epitope spreading in the pathogenesis of endemic pemphigus foliaceus (fogo selvagem) J Exp Med 197 2003 1501 1510
-
(2003)
J Exp Med
, vol.197
, pp. 1501-1510
-
-
Li, N.1
Aoki, V.2
Hans-Filho, G.3
Rivitti, E.A.4
Diaz, L.A.5
-
85
-
-
33645227215
-
Desmoglein endocytosis and desmosome disassembly are coordinated responses to pemphigus autoantibodies
-
C.C. Calkins, S.V. Setzer, J.M. Jennings, S. Summers, K. Tsunoda, and M. Amagai Desmoglein endocytosis and desmosome disassembly are coordinated responses to pemphigus autoantibodies J Biol Chem 281 2006 7623 7634
-
(2006)
J Biol Chem
, vol.281
, pp. 7623-7634
-
-
Calkins, C.C.1
Setzer, S.V.2
Jennings, J.M.3
Summers, S.4
Tsunoda, K.5
Amagai, M.6
-
86
-
-
0036499474
-
Molecular interactions between desmosomal cadherins
-
S.-e.-H. Syed, B. Trinnaman, S. Martin, S. Major, J. Hutchinson, and A.I. Magee Molecular interactions between desmosomal cadherins Biochem J 362 2002 317 327
-
(2002)
Biochem J
, vol.362
, pp. 317-327
-
-
Syed, S.-H.-E.1
Trinnaman, B.2
Martin, S.3
Major, S.4
Hutchinson, J.5
Magee, A.I.6
-
87
-
-
49649084477
-
Pemphigus vulgaris IgG directly inhibit desmoglein 3-mediated transinteraction
-
W.M. Heupel, D. Zillikens, D. Drenckhahn, and J. Waschke Pemphigus vulgaris IgG directly inhibit desmoglein 3-mediated transinteraction J Immunol 181 2008 1825 1834
-
(2008)
J Immunol
, vol.181
, pp. 1825-1834
-
-
Heupel, W.M.1
Zillikens, D.2
Drenckhahn, D.3
Waschke, J.4
-
88
-
-
27644507915
-
Pemphigus foliaceus IgG causes dissociation of desmoglein 1-containing junctions without blocking desmoglein 1 transinteraction
-
J. Waschke, P. Bruggeman, W. Baumgartner, D. Zillikens, and D. Drenckhahn Pemphigus foliaceus IgG causes dissociation of desmoglein 1-containing junctions without blocking desmoglein 1 transinteraction J Clin Invest 115 2005 3157 3165
-
(2005)
J Clin Invest
, vol.115
, pp. 3157-3165
-
-
Waschke, J.1
Bruggeman, P.2
Baumgartner, W.3
Zillikens, D.4
Drenckhahn, D.5
-
89
-
-
73049094924
-
Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia
-
C. Barahona-Dussault, B. Benito, O. Campuzano, A. Iglesias, T.L. Leung, and L. Robb Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia Clin Genet 77 2010 37 48
-
(2010)
Clin Genet
, vol.77
, pp. 37-48
-
-
Barahona-Dussault, C.1
Benito, B.2
Campuzano, O.3
Iglesias, A.4
Leung, T.L.5
Robb, L.6
-
90
-
-
38049150175
-
Missense mutations in desmocollin-2 N-terminus, associated with arrhythmogenic right ventricular cardiomyopathy, affect intracellular localization of desmocollin-2 in vitro
-
G. Beffagna, M. De Bortoli, A. Nava, M. Salamon, A. Lorenzon, and M. Zaccolo Missense mutations in desmocollin-2 N-terminus, associated with arrhythmogenic right ventricular cardiomyopathy, affect intracellular localization of desmocollin-2 in vitro BMC Med Genet 8 2007 65
-
(2007)
BMC Med Genet
, vol.8
, pp. 65
-
-
Beffagna, G.1
De Bortoli, M.2
Nava, A.3
Salamon, M.4
Lorenzon, A.5
Zaccolo, M.6
-
91
-
-
79959568500
-
Arrhythmogenic right ventricular dysplasia/cardiomyopathy: Pathogenic desmosome mutations in index-patients predict outcome of family screening: Dutch arrhythmogenic right ventricular dysplasia/cardiomyopathy genotype-phenotype follow-up study
-
M.G. Cox, P.A. van der Zwaag, C. van der Werf, J.J. van der Smagt, M. Noorman, and Z.A. Bhuiyan Arrhythmogenic right ventricular dysplasia/ cardiomyopathy: pathogenic desmosome mutations in index-patients predict outcome of family screening: Dutch arrhythmogenic right ventricular dysplasia/cardiomyopathy genotype-phenotype follow-up study Circulation 123 2011 2690 2700
-
(2011)
Circulation
, vol.123
, pp. 2690-2700
-
-
Cox, M.G.1
Van Der Zwaag, P.A.2
Van Der Werf, C.3
Van Der Smagt, J.J.4
Noorman, M.5
Bhuiyan, Z.A.6
-
92
-
-
84863717016
-
Molecular changes in the heart of a severe case of arrhythmogenic right ventricular cardiomyopathy caused by a desmoglein-2 null allele
-
K. Gehmlich, P. Syrris, M. Reimann, A. Asimaki, E. Ehler, and A. Evans Molecular changes in the heart of a severe case of arrhythmogenic right ventricular cardiomyopathy caused by a desmoglein-2 null allele Cardiovasc Pathol 21 2012 275 282
-
(2012)
Cardiovasc Pathol
, vol.21
, pp. 275-282
-
-
Gehmlich, K.1
Syrris, P.2
Reimann, M.3
Asimaki, A.4
Ehler, E.5
Evans, A.6
-
93
-
-
78649288037
-
Prevalence of desmosomal protein gene mutations in patients with dilated cardiomyopathy
-
P. Elliott, C. O'Mahony, P. Syrris, A. Evans, C. Rivera Sorensen, and M.N. Sheppard Prevalence of desmosomal protein gene mutations in patients with dilated cardiomyopathy Circ Cardiovasc Genet 3 2010 314 322
-
(2010)
Circ Cardiovasc Genet
, vol.3
, pp. 314-322
-
-
Elliott, P.1
O'Mahony, C.2
Syrris, P.3
Evans, A.4
Rivera Sorensen, C.5
Sheppard, M.N.6
-
94
-
-
0035805117
-
The structure of the beta-catenin/E-cadherin complex and the molecular basis of diverse ligand recognition by beta-catenin
-
A.H. Huber, and W.I. Weis The structure of the beta-catenin/E-cadherin complex and the molecular basis of diverse ligand recognition by beta-catenin Cell 105 2001 391 402
-
(2001)
Cell
, vol.105
, pp. 391-402
-
-
Huber, A.H.1
Weis, W.I.2
-
95
-
-
70450280500
-
Interactions of plakoglobin and beta-catenin with desmosomal cadherins: Basis of selective exclusion of alpha- and beta-catenin from desmosomes
-
H.-J. Choi, J.C. Gross, S. Pokutta, and W.I. Weis Interactions of plakoglobin and beta-catenin with desmosomal cadherins: basis of selective exclusion of alpha- and beta-catenin from desmosomes J Biol Chem 284 2009 31776 31788
-
(2009)
J Biol Chem
, vol.284
, pp. 31776-31788
-
-
Choi, H.-J.1
Gross, J.C.2
Pokutta, S.3
Weis, W.I.4
-
96
-
-
17544383608
-
Desmosomal cadherin binding domains of plakoglobin
-
L.L. Witcher, R. Collins, S. Puttagunta, S.E. Mechanic, M. Munson, and B. Gumbiner Desmosomal cadherin binding domains of plakoglobin J Biol Chem 271 1996 10904 10909
-
(1996)
J Biol Chem
, vol.271
, pp. 10904-10909
-
-
Witcher, L.L.1
Collins, R.2
Puttagunta, S.3
Mechanic, S.E.4
Munson, M.5
Gumbiner, B.6
-
97
-
-
0038069525
-
Defining desmosomal plakophilin-3 interactions
-
S. Bonné, B. Gilbert, M. Hatzfeld, X. Chen, K.J. Green, and F. van Roy Defining desmosomal plakophilin-3 interactions J Cell Biol 161 2003 403 416
-
(2003)
J Cell Biol
, vol.161
, pp. 403-416
-
-
Bonné, S.1
Gilbert, B.2
Hatzfeld, M.3
Chen, X.4
Green, K.J.5
Van Roy, F.6
-
98
-
-
0037155877
-
Protein binding and functional characterization of plakophilin 2. Evidence for its diverse roles in desmosomes and beta -catenin signaling
-
X. Chen, S. Bonne, M. Hatzfeld, F. van Roy, and K.J. Green Protein binding and functional characterization of plakophilin 2. Evidence for its diverse roles in desmosomes and beta -catenin signaling J Biol Chem 277 2002 10512 10522
-
(2002)
J Biol Chem
, vol.277
, pp. 10512-10522
-
-
Chen, X.1
Bonne, S.2
Hatzfeld, M.3
Van Roy, F.4
Green, K.J.5
-
99
-
-
0030699073
-
The amino-terminal domain of desmoplakin binds to plakoglobin and clusters desmosomal cadherin-plakoglobin complexes
-
A.P. Kowalczyk, E.A. Bornslaeger, J.E. Borgwardt, H.L. Palka, A.S. Dhaliwal, and C.M. Corcoran The amino-terminal domain of desmoplakin binds to plakoglobin and clusters desmosomal cadherin-plakoglobin complexes J Cell Biol 139 1997 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
-
100
-
-
0035816721
-
Tyrosine-phosphorylated plakoglobin is associated with desmogleins but not desmoplakin after epidermal growth factor receptor activation
-
C.A. Gaudry, H.L. Palka, R.L. Dusek, A.C. Huen, M.J. Khandekar, and L.G. Hudson Tyrosine-phosphorylated plakoglobin is associated with desmogleins but not desmoplakin after epidermal growth factor receptor activation J Biol Chem 276 2001 24871 24880
-
(2001)
J Biol Chem
, vol.276
, pp. 24871-24880
-
-
Gaudry, C.A.1
Palka, H.L.2
Dusek, R.L.3
Huen, A.C.4
Khandekar, M.J.5
Hudson, L.G.6
-
101
-
-
0141529737
-
Tyrosine phosphorylation of plakoglobin causes contrary effects on its association with desmosomes and adherens junction components and modulates beta-catenin-mediated transcription
-
S. Miravet, J. Piedra, J. Castano, I. Raurell, C. Franci, and M. Dunach Tyrosine phosphorylation of plakoglobin causes contrary effects on its association with desmosomes and adherens junction components and modulates beta-catenin-mediated transcription Mol Cell Biol 23 2003 7391 7402
-
(2003)
Mol Cell Biol
, vol.23
, pp. 7391-7402
-
-
Miravet, S.1
Piedra, J.2
Castano, J.3
Raurell, I.4
Franci, C.5
Dunach, M.6
-
102
-
-
0034679297
-
Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease)
-
G. McKoy, N. Protonotarios, A. Crosby, A. Tsatsopoulou, A. Anastasakis, and A. Coonar Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease) Lancet 355 2000 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
-
103
-
-
80053575074
-
Cardiomyopathy with alopecia and palmoplantar keratoderma (CAPK) is caused by a JUP mutation
-
H. Erken, K.O. Yariz, D. Duman, C.T. Kaya, T. Sayin, and A.O. Heper Cardiomyopathy with alopecia and palmoplantar keratoderma (CAPK) is caused by a JUP mutation Br J Dermatol 165 2011 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
-
104
-
-
79954558531
-
Lack of plakoglobin leads to lethal congenital epidermolysis bullosa: A novel clinico-genetic entity
-
M. Pigors, D. Kiritsi, S. Krumpelmann, N. Wagner, Y. He, and M. Podda Lack of plakoglobin leads to lethal congenital epidermolysis bullosa: a novel clinico-genetic entity Hum Mol Genet 20 2011 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
-
105
-
-
35348913125
-
A novel dominant mutation in plakoglobin causes arrhythmogenic right ventricular cardiomyopathy
-
A. Asimaki, P. Syrris, T. Wichter, P. Matthias, J.E. Saffitz, and W.J. McKenna A novel dominant mutation in plakoglobin causes arrhythmogenic right ventricular cardiomyopathy Am J Hum Genet 81 2007 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
-
106
-
-
53049093288
-
A woman with incidental findings of ventricular aneurysms and a desmosomal cardiomyopathy
-
S. Ly, F.I. Marcus, T. Xu, and J.A. Towbin A woman with incidental findings of ventricular aneurysms and a desmosomal cardiomyopathy Heart Rhythm 5 2008 1455 1457
-
(2008)
Heart Rhythm
, vol.5
, pp. 1455-1457
-
-
Ly, S.1
Marcus, F.I.2
Xu, T.3
Towbin, J.A.4
-
107
-
-
0030856140
-
Plakophilins 1a and 1b: Widespread nuclear proteins recruited in specific epithelial cells as desmosomal plaque components
-
A. Schmidt, L. Langbein, M. Rode, S. Pratzel, R. Zimbelmann, and W.W. Franke Plakophilins 1a and 1b: widespread nuclear proteins recruited in specific epithelial cells as desmosomal plaque components Cell Tissue Res 290 1997 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
-
108
-
-
0029825414
-
Plakophilins 2a and 2b: Constitutive proteins of dual location in the karyoplasm and the desmosomal plaque
-
C. Mertens, C. Kuhn, and W.W. Franke Plakophilins 2a and 2b: constitutive proteins of dual location in the karyoplasm and the desmosomal plaque J Cell Biol 135 1996 1009 1025
-
(1996)
J Cell Biol
, vol.135
, pp. 1009-1025
-
-
Mertens, C.1
Kuhn, C.2
Franke, W.W.3
-
109
-
-
12344281930
-
Structure of the armadillo repeat domain of plakophilin 1
-
H.-J. Choi, and W.I. Weis Structure of the armadillo repeat domain of plakophilin 1 J Mol Biol 346 2005 367 376
-
(2005)
J Mol Biol
, vol.346
, pp. 367-376
-
-
Choi, H.-J.1
Weis, W.I.2
-
110
-
-
77950932981
-
Dynamic and static interactions between p120 catenin and E-cadherin regulate the stability of cell-cell adhesion
-
N. Ishiyama, S.H. Lee, S. Liu, G.Y. Li, M.J. Smith, and L.F. Reichardt Dynamic and static interactions between p120 catenin and E-cadherin regulate the stability of cell-cell adhesion Cell 141 2010 117 128
-
(2010)
Cell
, vol.141
, pp. 117-128
-
-
Ishiyama, N.1
Lee, S.H.2
Liu, S.3
Li, G.Y.4
Smith, M.J.5
Reichardt, L.F.6
-
111
-
-
0034599841
-
The function of plakophilin 1 in desmosome assembly and actin filament organization
-
M. Hatzfeld, C. Haffner, K. Schulze, and U. Vinzens The function of plakophilin 1 in desmosome assembly and actin filament organization J Cell Biol 149 2000 209 222
-
(2000)
J Cell Biol
, vol.149
, pp. 209-222
-
-
Hatzfeld, M.1
Haffner, C.2
Schulze, K.3
Vinzens, U.4
-
112
-
-
84984774604
-
Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome
-
J.A. McGrath, J.R. McMillan, C.S. Shemanko, S.K. Runswick, I.M. Leigh, and E.B. Lane Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome Nat Genet 17 1997 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
-
113
-
-
72149099859
-
Arrhythmogenic right ventricular cardiomyopathy plakophilin-2 mutations disrupt desmosome assembly and stability
-
C. Hall, S. Li, H. Li, V. Creason, and J.K. Wahl III Arrhythmogenic right ventricular cardiomyopathy plakophilin-2 mutations disrupt desmosome assembly and stability Cell Commun Adhes 16 2009 15 27
-
(2009)
Cell Commun Adhes
, vol.16
, pp. 15-27
-
-
Hall, C.1
Li, S.2
Li, H.3
Creason, V.4
Wahl III, J.K.5
-
114
-
-
84868629412
-
Molecular insights into arrhythmogenic right ventricular cardiomyopathy caused by plakophilin-2 missense mutations
-
F. Kirchner, A. Schuetz, L.-H. Boldt, K. Martens, G. Dittmar, and W. Haverkamp Molecular insights into arrhythmogenic right ventricular cardiomyopathy caused by plakophilin-2 missense mutations Circ Cardiovasc Genet 5 2012 400 411
-
(2012)
Circ Cardiovasc Genet
, vol.5
, pp. 400-411
-
-
Kirchner, F.1
Schuetz, A.2
Boldt, L.-H.3
Martens, K.4
Dittmar, G.5
Haverkamp, W.6
-
115
-
-
63849246525
-
Protein structure prediction on the Web: A case study using the Phyre server
-
L.A. Kelley, and M.J. Sternberg Protein structure prediction on the Web: a case study using the Phyre server Nat Protoc 4 2009 363 371
-
(2009)
Nat Protoc
, vol.4
, pp. 363-371
-
-
Kelley, L.A.1
Sternberg, M.J.2
-
116
-
-
44149127750
-
Plakophilin 2: A critical scaffold for PKC alpha that regulates intercellular junction assembly
-
A.E. Bass-Zubek, R.P. Hobbs, E.V. Amargo, N.J. Garcia, S.N. Hsieh, and X. Chen Plakophilin 2: a critical scaffold for PKC alpha that regulates intercellular junction assembly J Cell Biol 181 2008 605 613
-
(2008)
J Cell Biol
, vol.181
, pp. 605-613
-
-
Bass-Zubek, A.E.1
Hobbs, R.P.2
Amargo, E.V.3
Garcia, N.J.4
Hsieh, S.N.5
Chen, X.6
-
117
-
-
0034932143
-
Nuclear particles containing RNA polymerase III complexes associated with the junctional plaque protein plakophilin 2
-
C. Mertens, I. Hofmann, Z. Wang, M. Teichmann, S.S. Chong, and M. Schnölzer Nuclear particles containing RNA polymerase III complexes associated with the junctional plaque protein plakophilin 2 Proc Natl Acad Sci U S A 98 2001 7795 7800
-
(2001)
Proc Natl Acad Sci U S A
, vol.98
, pp. 7795-7800
-
-
Mertens, C.1
Hofmann, I.2
Wang, Z.3
Teichmann, M.4
Chong, S.S.5
Schnölzer, M.6
-
118
-
-
0027428693
-
Functional analysis of desmoplakin domains: Specification of the interaction with keratin versus vimentin intermediate filament networks
-
T.S. Stappenbeck, E.A. Bornslaeger, C.M. Corcoran, H.H. Luu, M.L. Virata, and K.J. Green Functional analysis of desmoplakin domains: specification of the interaction with keratin versus vimentin intermediate filament networks J Cell Biol 123 1993 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
-
119
-
-
0026511055
-
The desmoplakin carboxyl terminus coaligns with and specifically disrupts intermediate filament networks when expressed in cultured cells
-
T.S. Stappenbeck, and K.J. Green The desmoplakin carboxyl terminus coaligns with and specifically disrupts intermediate filament networks when expressed in cultured cells J Cell Biol 116 1992 1197 1209
-
(1992)
J Cell Biol
, vol.116
, pp. 1197-1209
-
-
Stappenbeck, T.S.1
Green, K.J.2
-
120
-
-
34247222123
-
The structure of a tandem pair of spectrin repeats of plectin reveals a modular organization of the plakin domain
-
A. Sonnenberg, A.M. Rojas, and J.M. de Pereda The structure of a tandem pair of spectrin repeats of plectin reveals a modular organization of the plakin domain J Mol Biol 368 2007 1379 1391
-
(2007)
J Mol Biol
, vol.368
, pp. 1379-1391
-
-
Sonnenberg, A.1
Rojas, A.M.2
De Pereda, J.M.3
-
121
-
-
79958027310
-
Crystal structure of a rigid four-spectrin-repeat fragment of the human desmoplakin plakin domain
-
H.-J. Choi, and W.I. Weis Crystal structure of a rigid four-spectrin-repeat fragment of the human desmoplakin plakin domain J Mol Biol 409 2011 800 812
-
(2011)
J Mol Biol
, vol.409
, pp. 800-812
-
-
Choi, H.-J.1
Weis, W.I.2
-
122
-
-
80051669617
-
The nonlinear structure of the desmoplakin plakin domain and the effects of cardiomyopathy-linked mutations
-
C. Al-Jassar, T. Knowles, M. Jeeves, K. Kami, E. Behr, and H. Bikker The nonlinear structure of the desmoplakin plakin domain and the effects of cardiomyopathy-linked mutations J Mol Biol 411 2011 1049 1061
-
(2011)
J Mol Biol
, vol.411
, pp. 1049-1061
-
-
Al-Jassar, C.1
Knowles, T.2
Jeeves, M.3
Kami, K.4
Behr, E.5
Bikker, H.6
-
123
-
-
0025334747
-
Structure of the human desmoplakins. Implications for function in the desmosomal plaque
-
K.J. Green, D.A. Parry, P.M. Steinert, M.L. Virata, R.M. Wagner, and B.D. Angst Structure of the human desmoplakins. Implications for function in the desmosomal plaque J Biol Chem 265 1990 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
-
124
-
-
0024371499
-
Desmoplakin i and desmoplakin II. Purification and characterization
-
E.J. O'Keefe, H.P. Erickson, and V. Bennett Desmoplakin I and desmoplakin II. Purification and characterization J Biol Chem 264 1989 8310 8318
-
(1989)
J Biol Chem
, vol.264
, pp. 8310-8318
-
-
O'Keefe, E.J.1
Erickson, H.P.2
Bennett, V.3
-
125
-
-
0036316492
-
Structures of two intermediate filament-binding fragments of desmoplakin reveal a unique repeat motif structure
-
H.J. Choi, S. Park-Snyder, L.T. Pascoe, K.J. Green, and W.I. Weis Structures of two intermediate filament-binding fragments of desmoplakin reveal a unique repeat motif structure Nat Struct Mol Biol 9 2002 612 620
-
(2002)
Nat Struct Mol Biol
, vol.9
, pp. 612-620
-
-
Choi, H.J.1
Park-Snyder, S.2
Pascoe, L.T.3
Green, K.J.4
Weis, W.I.5
-
126
-
-
0038247863
-
Interaction of the bullous pemphigoid antigen 1 (BP230) and desmoplakin with intermediate filaments is mediated by distinct sequences within their COOH terminus
-
L. Fontao, B. Favre, S. Riou, D. Geerts, F. Jaunin, and J.-H. Saurat 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 2003 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
-
127
-
-
33845889218
-
New insights into the molecular basis of desmoplakinand desmin-related cardiomyopathies
-
K. Lapouge, L. Fontao, M.-F. Champliaud, F. Jaunin, M.A. Frias, and B. Favre New insights into the molecular basis of desmoplakinand desmin-related cardiomyopathies J Cell Sci 119 2006 4974 4985
-
(2006)
J Cell Sci
, vol.119
, pp. 4974-4985
-
-
Lapouge, K.1
Fontao, L.2
Champliaud, M.-F.3
Jaunin, F.4
Frias, M.A.5
Favre, B.6
-
128
-
-
0028028177
-
Phosphorylation of the desmoplakin COOH terminus negatively regulates its interaction with keratin intermediate filament networks
-
T.S. Stappenbeck, J.A. Lamb, C.M. Corcoran, and K.J. Green Phosphorylation of the desmoplakin COOH terminus negatively regulates its interaction with keratin intermediate filament networks J Biol Chem 269 1994 29351 29354
-
(1994)
J Biol Chem
, vol.269
, pp. 29351-29354
-
-
Stappenbeck, T.S.1
Lamb, J.A.2
Corcoran, C.M.3
Green, K.J.4
-
129
-
-
0032930569
-
Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma
-
D.K. Armstrong, K.E. McKenna, P.E. Purkis, K.J. Green, R.A. Eady, and I.M. Leigh Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma Hum Mol Genet 8 1999 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
-
130
-
-
0033401667
-
Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency
-
N.V. Whittock, G.H. Ashton, P.J. Dopping-Hepenstal, M.J. Gratian, F.M. Keane, and R.A. Eady Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency J Invest Dermatol 113 1999 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
-
131
-
-
0034326902
-
Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma
-
E.E. Norgett, S.J. Hatsell, L. Carvajal-Huerta, J.C. Cabezas, J. Common, and P.E. Purkis Recessive mutation in desmoplakin disrupts desmoplakin- intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma Hum Mol Genet 9 2000 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
-
132
-
-
0036178690
-
Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome
-
N.V. Whittock, H. Wan, S.M. Morley, M.C. Garzon, L. Kristal, and P. Hyde Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome J Invest Dermatol 118 2002 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
-
133
-
-
25444463595
-
Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa
-
M.F. Jonkman, A.M. Pasmooij, S.G. Pasmans, M.P. van den Berg, H.J. Ter Horst, and A. Timmer Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa Am J Hum Genet 77 2005 653 660
-
(2005)
Am J Hum Genet
, vol.77
, pp. 653-660
-
-
Jonkman, M.F.1
Pasmooij, A.M.2
Pasmans, S.G.3
Van Den Berg, M.P.4
Ter Horst, H.J.5
Timmer, A.6
-
134
-
-
33646558843
-
Loss of desmoplakin isoform i causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome
-
A. Uzumcu, E.E. Norgett, A. Dindar, O. Uyguner, K. Nisli, and H. Kayserili Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome J Med Genet 43 2006 e5
-
(2006)
J Med Genet
, vol.43
, pp. 5
-
-
Uzumcu, A.1
Norgett, E.E.2
Dindar, A.3
Uyguner, O.4
Nisli, K.5
Kayserili, H.6
-
135
-
-
33748741625
-
Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy
-
Z. Yang, N.E. Bowles, S.E. Scherer, M.D. Taylor, D.L. Kearney, and S. Ge Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy Circ Res 99 2006 646 655
-
(2006)
Circ Res
, vol.99
, pp. 646-655
-
-
Yang, Z.1
Bowles, N.E.2
Scherer, S.E.3
Taylor, M.D.4
Kearney, D.L.5
Ge, S.6
-
136
-
-
68849104798
-
Tragedy in a heartbeat: Malfunctioning desmin causes skeletal and cardiac muscle disease
-
L.G. Goldfarb, and M.C. Dalakas Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease J Clin Invest 119 2009 1806 1813
-
(2009)
J Clin Invest
, vol.119
, pp. 1806-1813
-
-
Goldfarb, L.G.1
Dalakas, M.C.2
-
137
-
-
5144228375
-
The biology of desmin filaments: How do mutations affect their structure, assembly, and organisation?
-
H. Bar, S.V. Strelkov, G. Sjoberg, U. Aebi, and H. Herrmann The biology of desmin filaments: how do mutations affect their structure, assembly, and organisation? J Struct Biol 148 2004 137 152
-
(2004)
J Struct Biol
, vol.148
, pp. 137-152
-
-
Bar, H.1
Strelkov, S.V.2
Sjoberg, G.3
Aebi, U.4
Herrmann, H.5
-
138
-
-
84872295343
-
Desmin mutations and arrhythmogenic right ventricular cardiomyopathy
-
A. Lorenzon, G. Beffagna, B. Bauce, M. De Bortoli, I.E. Li Mura, and M. Calore Desmin mutations and arrhythmogenic right ventricular cardiomyopathy Am J Cardiol 111 2013 400 405
-
(2013)
Am J Cardiol
, vol.111
, pp. 400-405
-
-
Lorenzon, A.1
Beffagna, G.2
Bauce, B.3
De Bortoli, M.4
Li Mura, I.E.5
Calore, M.6
-
139
-
-
78149256040
-
De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy
-
B. Klauke, S. Kossmann, A. Gaertner, K. Brand, I. Stork, and A. Brodehl De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy Hum Mol Genet 19 2010 4595 4607
-
(2010)
Hum Mol Genet
, vol.19
, pp. 4595-4607
-
-
Klauke, B.1
Kossmann, S.2
Gaertner, A.3
Brand, K.4
Stork, I.5
Brodehl, A.6
-
140
-
-
84861986053
-
Wnt/beta-catenin signaling and disease
-
H. Clevers, and R. Nusse Wnt/beta-catenin signaling and disease Cell 149 2012 1192 1205
-
(2012)
Cell
, vol.149
, pp. 1192-1205
-
-
Clevers, H.1
Nusse, R.2
-
141
-
-
37449032767
-
Defining the roles of beta-catenin and plakoglobin in LEF/T-cell factor-dependent transcription using beta-catenin/plakoglobin-null F9 cells
-
M. Shimizu, Y. Fukunaga, J. Ikenouchi, and A. Nagafuchi Defining the roles of beta-catenin and plakoglobin in LEF/T-cell factor-dependent transcription using beta-catenin/plakoglobin-null F9 cells Mol Cell Biol 28 2008 825 835
-
(2008)
Mol Cell Biol
, vol.28
, pp. 825-835
-
-
Shimizu, M.1
Fukunaga, Y.2
Ikenouchi, J.3
Nagafuchi, A.4
-
142
-
-
79952268278
-
Cardiac tissue-restricted deletion of plakoglobin results in progressive cardiomyopathy and activation of {beta}-catenin signaling
-
J. Li, D. Swope, N. Raess, L. Cheng, E.J. Muller, and G.L. Radice Cardiac tissue-restricted deletion of plakoglobin results in progressive cardiomyopathy and activation of {beta}-catenin signaling Mol Cell Biol 31 2011 1134 1144
-
(2011)
Mol Cell Biol
, vol.31
, pp. 1134-1144
-
-
Li, J.1
Swope, D.2
Raess, N.3
Cheng, L.4
Muller, E.J.5
Radice, G.L.6
-
143
-
-
62349094053
-
A new diagnostic test for arrhythmogenic right ventricular cardiomyopathy
-
A. Asimaki, H. Tandri, H. Huang, M.K. Halushka, S. Gautam, and C. Basso A new diagnostic test for arrhythmogenic right ventricular cardiomyopathy N Engl J Med 360 2009 1075 1084
-
(2009)
N Engl J Med
, vol.360
, pp. 1075-1084
-
-
Asimaki, A.1
Tandri, H.2
Huang, H.3
Halushka, M.K.4
Gautam, S.5
Basso, C.6
-
144
-
-
84855858617
-
Usefulness of immunostaining for plakoglobin as a diagnostic marker of arrhythmogenic right ventricular cardiomyopathy
-
J. Munkholm, A.H. Christensen, J.H. Svendsen, and C.B. Andersen Usefulness of immunostaining for plakoglobin as a diagnostic marker of arrhythmogenic right ventricular cardiomyopathy Am J Cardiol 109 2012 272 275
-
(2012)
Am J Cardiol
, vol.109
, pp. 272-275
-
-
Munkholm, J.1
Christensen, A.H.2
Svendsen, J.H.3
Andersen, C.B.4
-
145
-
-
0034637103
-
Inhibition of adipogenesis by Wnt signaling
-
S.E. Ross, N. Hemati, K.A. Longo, C.N. Bennett, P.C. Lucas, and R.L. Erickson Inhibition of adipogenesis by Wnt signaling Science 289 2000 950 953
-
(2000)
Science
, vol.289
, pp. 950-953
-
-
Ross, S.E.1
Hemati, N.2
Longo, K.A.3
Bennett, C.N.4
Lucas, P.C.5
Erickson, R.L.6
-
147
-
-
33745848407
-
Suppression of canonical Wnt/beta-catenin signaling by nuclear plakoglobin recapitulates phenotype of arrhythmogenic right ventricular cardiomyopathy
-
E. Garcia-Gras, R. Lombardi, M.J. Giocondo, J.T. Willerson, M.D. Schneider, and D.S. Khoury Suppression of canonical Wnt/beta-catenin signaling by nuclear plakoglobin recapitulates phenotype of arrhythmogenic right ventricular cardiomyopathy J Clin Invest 116 2006 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
-
148
-
-
84856102438
-
Nuclear plakoglobin is essential for differentiation of cardiac progenitor cells to adipocytes in arrhythmogenic right ventricular cardiomyopathy
-
R. Lombardi, M. da Graca Cabreira-Hansen, A. Bell, R.R. Fromm, J.T. Willerson, and A.J. Marian Nuclear plakoglobin is essential for differentiation of cardiac progenitor cells to adipocytes in arrhythmogenic right ventricular cardiomyopathy Circ Res 109 2011 1342 1353
-
(2011)
Circ Res
, vol.109
, pp. 1342-1353
-
-
Lombardi, R.1
Da Graca Cabreira-Hansen, M.2
Bell, A.3
Fromm, R.R.4
Willerson, J.T.5
Marian, A.J.6
-
149
-
-
81255209231
-
Restrictive loss of plakoglobin in cardiomyocytes leads to arrhythmogenic cardiomyopathy
-
D. Li, Y. Liu, M. Maruyama, W. Zhu, H. Chen, and W. Zhang Restrictive loss of plakoglobin in cardiomyocytes leads to arrhythmogenic cardiomyopathy Hum Mol Genet 20 2011 4582 4596
-
(2011)
Hum Mol Genet
, vol.20
, pp. 4582-4596
-
-
Li, D.1
Liu, Y.2
Maruyama, M.3
Zhu, W.4
Chen, H.5
Zhang, W.6
-
150
-
-
84874741888
-
Studying arrhythmogenic right ventricular dysplasia with patient-specific iPSCs
-
C. Kim, J. Wong, J. Wen, S. Wang, C. Wang, and S. Spiering Studying arrhythmogenic right ventricular dysplasia with patient-specific iPSCs Nature 494 2013 105 110
-
(2013)
Nature
, vol.494
, pp. 105-110
-
-
Kim, C.1
Wong, J.2
Wen, J.3
Wang, S.4
Wang, C.5
Spiering, S.6
-
151
-
-
84868153903
-
Can preload-reducing therapy prevent disease progression in arrhythmogenic right ventricular cardiomyopathy? Experimental evidence and concept for a clinical trial
-
L. Fabritz, L. Fortmuller, T.Y. Yu, M. Paul, and P. Kirchhof Can preload-reducing therapy prevent disease progression in arrhythmogenic right ventricular cardiomyopathy? Experimental evidence and concept for a clinical trial Prog Biophys Mol Biol 110 2012 340 346
-
(2012)
Prog Biophys Mol Biol
, vol.110
, pp. 340-346
-
-
Fabritz, L.1
Fortmuller, L.2
Yu, T.Y.3
Paul, M.4
Kirchhof, P.5
-
152
-
-
4344680669
-
Epidermal growth factor receptor inhibition promotes desmosome assembly and strengthens intercellular adhesion in squamous cell carcinoma cells
-
J.H. Lorch, J. Klessner, J.K. Park, S. Getsios, Y.L. Wu, and M.S. Stack Epidermal growth factor receptor inhibition promotes desmosome assembly and strengthens intercellular adhesion in squamous cell carcinoma cells J Biol Chem 279 2004 37191 37200
-
(2004)
J Biol Chem
, vol.279
, pp. 37191-37200
-
-
Lorch, J.H.1
Klessner, J.2
Park, J.K.3
Getsios, S.4
Wu, Y.L.5
Stack, M.S.6
-
153
-
-
84872422284
-
P63 control of desmosome gene expression and adhesion is compromised in AEC syndrome
-
G. Ferone, M.R. Mollo, H.A. Thomason, D. Antonini, H. Zhou, and R. Ambrosio p63 control of desmosome gene expression and adhesion is compromised in AEC syndrome Hum Mol Genet 22 2013 531 543
-
(2013)
Hum Mol Genet
, vol.22
, pp. 531-543
-
-
Ferone, G.1
Mollo, M.R.2
Thomason, H.A.3
Antonini, D.4
Zhou, H.5
Ambrosio, R.6
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