-
1
-
-
79955741612
-
Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosa
-
Almaani N, Liu L, Dopping-Hepenstal PJ, Lai-Cheong JE, Wong A, et al. 2011. Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosa. Acta Derm. Venereol. 91:262-66
-
(2011)
Acta Derm. Venereol.
, vol.91
, pp. 262-266
-
-
Almaani, N.1
Liu, L.2
Dopping-Hepenstal, P.J.3
Lai-Cheong, J.E.4
Wong, A.5
-
2
-
-
58549110076
-
New glycine substitution mutations in type VII collagen underlying epidermolysis bullosa pruriginosa but the phenotype is not explained by a common polymorphism in the matrix metalloproteinase-1 gene promoter
-
Almaani N, Liu L, Harrison N, Tanaka A, Lai-Cheong J, et al. 2009. New glycine substitution mutations in type VII collagen underlying epidermolysis bullosa pruriginosa but the phenotype is not explained by a common polymorphism in the matrix metalloproteinase-1 gene promoter. Acta Derm. Venereol. 89:6-11
-
(2009)
Acta Derm. Venereol.
, vol.89
, pp. 6-11
-
-
Almaani, N.1
Liu, L.2
Harrison, N.3
Tanaka, A.4
Lai-Cheong, J.5
-
3
-
-
80052865748
-
Development of allele-specific therapeutic siRNA for keratin 5 mutations in epidermolysis bullosa simplex
-
Atkinson SD, McGilligan VE, Liao H, Szeverenyi I, Smith FJ, et al. 2011. Development of allele-specific therapeutic siRNA for keratin 5 mutations in epidermolysis bullosa simplex. J. Investig. Dermatol. 131:2079-86
-
(2011)
J. Investig. Dermatol.
, vol.131
, pp. 2079-2086
-
-
Atkinson, S.D.1
McGilligan, V.E.2
Liao, H.3
Szeverenyi, I.4
Smith, F.J.5
-
4
-
-
33750212860
-
Molecular basis of inherited skin-blistering disorders, and therapeutic implications
-
Aumailley M, Has C, Tunggal L, Bruckner-Tuderman L. 2006. Molecular basis of inherited skin-blistering disorders, and therapeutic implications. Expert Rev. Mol. Med. 8:1-21
-
(2006)
Expert Rev. Mol. Med.
, vol.8
, pp. 1-21
-
-
Aumailley, M.1
Has, C.2
Tunggal, L.3
Bruckner-Tuderman, L.4
-
6
-
-
84861537861
-
The epidermal basement membrane isacompositeofseparate laminin-orcollagen IV-containing networks connectedbyaggregated perlecan, but not by nidogens
-
Behrens DT, Villone D, Koch M, Brunner G, Sorokin L, et al. 2012. The epidermal basement membrane isacompositeofseparate laminin-orcollagen IV-containing networks connectedbyaggregated perlecan, but not by nidogens. J. Biol. Chem. 287:18700-9
-
(2012)
J. Biol. Chem.
, vol.287
, pp. 18700-18709
-
-
Behrens, D.T.1
Villone, D.2
Koch, M.3
Brunner, G.4
Sorokin, L.5
-
7
-
-
84891017958
-
Plectin mutations underlie epidermolysis bullosa simplex in 8% of patients
-
Bolling MC, Jongbloed JD, Boven LG, Diercks GF, Smith FJ, et al. 2014. Plectin mutations underlie epidermolysis bullosa simplex in 8% of patients. J. Investig. Dermatol. 234:273-76
-
(2014)
J. Investig. Dermatol.
, vol.234
, pp. 273-276
-
-
Bolling, M.C.1
Jongbloed, J.D.2
Boven, L.G.3
Diercks, G.F.4
Smith, F.J.5
-
8
-
-
70449473084
-
Skin and heart: Une liaison dangereuse
-
Bolling MC, Jonkman MF. 2009. Skin and heart: une liaison dangereuse. Exp. Dermatol. 18:658-68
-
(2009)
Exp. Dermatol.
, vol.18
, pp. 658-668
-
-
Bolling, M.C.1
Jonkman, M.F.2
-
9
-
-
45949092534
-
Angiotensin II blockade and aortic-root dilation in Marfan's syndrome
-
Brooke BS, Habashi JP, Judge DP, Patel N, Loeys B, Dietz HC III. 2008. Angiotensin II blockade and aortic-root dilation in Marfan's syndrome. N. Engl. J. Med. 358:2787-95
-
(2008)
N. Engl. J. Med.
, vol.358
, pp. 2787-2795
-
-
Brooke, B.S.1
Habashi, J.P.2
Judge, D.P.3
Patel, N.4
Loeys, B.5
Dietz III, H.C.6
-
10
-
-
70450267632
-
Dystrophic epidermolysis bullosa: Pathogenesis and clinical features
-
Bruckner-Tuderman L. 2010. Dystrophic epidermolysis bullosa: pathogenesis and clinical features. Dermatol. Clin. 28:107-14
-
(2010)
Dermatol. Clin.
, vol.28
, pp. 107-114
-
-
Bruckner-Tuderman, L.1
-
11
-
-
84872894722
-
Molecular heterogeneity of blistering disorders: The paradigm of epidermolysis bullosa
-
Bruckner-Tuderman L, Has C. 2012. Molecular heterogeneity of blistering disorders: the paradigm of epidermolysis bullosa. J. Investig. Dermatol. 132:E2-5
-
(2012)
J. Investig. Dermatol.
, vol.132
-
-
Bruckner-Tuderman, L.1
Has, C.2
-
12
-
-
84894254991
-
Disorders of the cutaneous basement membrane zone-The paradigm of epidermolysis bullosa
-
Bruckner-Tuderman L, Has C. 2014. Disorders of the cutaneous basement membrane zone-the paradigm of epidermolysis bullosa. Matrix Biol. 33:29-34
-
(2014)
Matrix Biol.
, vol.33
, pp. 29-34
-
-
Bruckner-Tuderman, L.1
Has, C.2
-
14
-
-
84884396866
-
Progress in epidermolysis bullosa research: Summary of DEBRA International Research Conference 2012
-
Bruckner-Tuderman L, McGrath JA, Robinson EC, Uitto J. 2013. Progress in epidermolysis bullosa research: summary of DEBRA International Research Conference 2012. J. Investig. Dermatol. 133:2121-26
-
(2013)
J. Investig. Dermatol.
, vol.133
, pp. 2121-2126
-
-
Bruckner-Tuderman, L.1
McGrath, J.A.2
Robinson, E.C.3
Uitto, J.4
-
15
-
-
84882754575
-
Epidermal and dermal adhesion
-
ed. K Wolff, L Goldsmith, SI Katz, B Gilchrest, AS Paller, DJ Leffell New York: McGraw-Hill Med. 8th ed
-
Bruckner-Tuderman L, Payne AS. 2012. Epidermal and dermal adhesion. In Fitzpatrick's Dermatology in General Medicine, ed. K Wolff, L Goldsmith, SI Katz, B Gilchrest, AS Paller, DJ Leffell, pp. 569-85. New York: McGraw-Hill Med. 8th ed.
-
(2012)
Fitzpatrick's Dermatology in General Medicine
, pp. 569-585
-
-
Bruckner-Tuderman, L.1
Payne, A.S.2
-
16
-
-
0023866740
-
Lack of type VII collagen in unaffected skin of patients with severe recessive dystrophic epidermolysis bullosa
-
Bruckner-Tuderman L, Ruegger S, Odermatt B, Mitsuhashi Y, Schnyder UW. 1988. Lack of type VII collagen in unaffected skin of patients with severe recessive dystrophic epidermolysis bullosa. Dermato-logica 176:57-64
-
(1988)
Dermato-logica
, vol.176
, pp. 57-64
-
-
Bruckner-Tuderman, L.1
Ruegger, S.2
Odermatt, B.3
Mitsuhashi, Y.4
Schnyder, U.W.5
-
18
-
-
77953618192
-
A mouse model of generalized non-Herlitz junctional epidermolysis bullosa
-
Bubier JA, Sproule TJ, Alley LM, Webb CM, Fine JD, et al. 2010. A mouse model of generalized non-Herlitz junctional epidermolysis bullosa. J. Investig. Dermatol. 130:1819-28
-
(2010)
J. Investig. Dermatol.
, vol.130
, pp. 1819-1828
-
-
Bubier, J.A.1
Sproule, T.J.2
Alley, L.M.3
Webb, C.M.4
Fine, J.D.5
-
19
-
-
84880236346
-
The long and winding road that leads to a cure for epidermolysis bullosa
-
Carulli S, Contin R, De Rosa L, Pellegrini G, De Luca M. 2013. The long and winding road that leads to a cure for epidermolysis bullosa. Regen. Med. 8:467-81
-
(2013)
Regen. Med.
, vol.8
, pp. 467-481
-
-
Carulli, S.1
Contin, R.2
De Rosa, L.3
Pellegrini, G.4
De Luca, M.5
-
20
-
-
77952467665
-
Molecular testing in epidermolysis bullosa
-
Castiglia D, Zambruno G. 2010. Molecular testing in epidermolysis bullosa. Dermatol. Clin. 28:223-29
-
(2010)
Dermatol. Clin.
, vol.28
, pp. 223-229
-
-
Castiglia, D.1
Zambruno, G.2
-
21
-
-
77956885861
-
Inversa dystrophic epider-molysis bullosa is caused by missense mutations at specific positions of the collagenic domain of collagen type VII
-
Chiaverini C, Charlesworth AV, Youssef M, Cuny JF, Rabia SH, et al. 2010. Inversa dystrophic epider-molysis bullosa is caused by missense mutations at specific positions of the collagenic domain of collagen type VII. J. Investig. Dermatol. 130:2508-11
-
(2010)
J. Investig. Dermatol.
, vol.130
, pp. 2508-2511
-
-
Chiaverini, C.1
Charlesworth, A.V.2
Youssef, M.3
Cuny, J.F.4
Rabia, S.H.5
-
23
-
-
0027210982
-
A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa
-
Christiano AM, Greenspan DS, Hoffman GG, Zhang X, Tamai Y, et al. 1993. A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa. Nat. Genet. 4:62-66
-
(1993)
Nat. Genet.
, vol.4
, pp. 62-66
-
-
Christiano, A.M.1
Greenspan, D.S.2
Hoffman, G.G.3
Zhang, X.4
Tamai, Y.5
-
24
-
-
77950577869
-
Replenishment of type VII collagen and re-epithelialization of chronically ulcerated skin after intradermal administration of allogeneic mesenchymal stromal cells in two patients with recessive dystrophic epidermolysis bullosa
-
Conget P, Rodriguez F, Kramer S, Allers C, Simon V, et al. 2010. Replenishment of type VII collagen and re-epithelialization of chronically ulcerated skin after intradermal administration of allogeneic mesenchymal stromal cells in two patients with recessive dystrophic epidermolysis bullosa. Cytotherapy 12:429-31
-
(2010)
Cytotherapy
, vol.12
, pp. 429-431
-
-
Conget, P.1
Rodriguez, F.2
Kramer, S.3
Allers, C.4
Simon, V.5
-
25
-
-
79952537763
-
Molecular biology and clinical management of arrhythmogenic right ventricular cardiomyopathy/dysplasia
-
Corrado D, Basso C, Pilichou K, Thiene G. 2011. Molecular biology and clinical management of arrhythmogenic right ventricular cardiomyopathy/ dysplasia. Heart 97:530-39
-
(2011)
Heart
, vol.97
, pp. 530-539
-
-
Corrado, D.1
Basso, C.2
Pilichou, K.3
Thiene, G.4
-
26
-
-
80052260335
-
A founder synonymous COL7A1 mutation in three Danish families with dominant dystrophic epidermolysis bullosa pruriginosa identifies exonic regulatory sequences required for exon 87 splicing
-
Covaciu C, Grosso F, Pisaneschi E, Zambruno G, Gregersen PA, et al. 2011. A founder synonymous COL7A1 mutation in three Danish families with dominant dystrophic epidermolysis bullosa pruriginosa identifies exonic regulatory sequences required for exon 87 splicing. Br. J. Dermatol. 165:678-82
-
(2011)
Br. J. Dermatol.
, vol.165
, pp. 678-682
-
-
Covaciu, C.1
Grosso, F.2
Pisaneschi, E.3
Zambruno, G.4
Gregersen, P.A.5
-
27
-
-
53349151951
-
Differential expression of pyloric atresia in junctional epidermolysis bullosa with ITGB4 mutations suggests that pyloric atresia is due to factors other than the mutations and not predictive of a poor outcome: Three novel mutations and a review of the literature
-
Dang N, Klingberg S, Rubin AI, Edwards M, Borelli S, et al. 2008. Differential expression of pyloric atresia in junctional epidermolysis bullosa with ITGB4 mutations suggests that pyloric atresia is due to factors other than the mutations and not predictive of a poor outcome: three novel mutations and a review of the literature. Acta Derm. Venereol. 88:438-48
-
(2008)
Acta Derm. Venereol.
, vol.88
, pp. 438-448
-
-
Dang, N.1
Klingberg, S.2
Rubin, A.I.3
Edwards, M.4
Borelli, S.5
-
28
-
-
0032740890
-
Revertant mosaicism: Partial correction of a germ-line mutation in COL17A1 by a frame-restoring mutation
-
Darling TN, Yee C, Bauer JW, Hintner H, Yancey KB. 1999. Revertant mosaicism: partial correction of a germ-line mutation in COL17A1 by a frame-restoring mutation. J. Clin. Investig. 103:1371-77
-
(1999)
J. Clin. Investig.
, vol.103
, pp. 1371-1377
-
-
Darling, T.N.1
Yee, C.2
Bauer, J.W.3
Hintner, H.4
Yancey, K.B.5
-
29
-
-
69849106030
-
Revertant somatic mosaicism in the Wiskott-Aldrich syndrome
-
Davis BR, Candotti F. 2009. Revertant somatic mosaicism in the Wiskott-Aldrich syndrome. Immunol. Res. 44:127-31
-
(2009)
Immunol. Res.
, vol.44
, pp. 127-131
-
-
Davis, B.R.1
Candotti, F.2
-
31
-
-
84884370678
-
Diverse TGF-beta signalling activation in fibroblasts from phenotypically discordant monozygotic twins with recessive dystrophic epidermolysis bullosa
-
Abstr.)
-
Di Salvio M, Piccinni E, Di Zenzo G, Orecchia A, Cianfarani F, et al. 2012. Diverse TGF-beta signalling activation in fibroblasts from phenotypically discordant monozygotic twins with recessive dystrophic epidermolysis bullosa. J. Investig. Dermatol. 132:S91 (Abstr.)
-
(2012)
J. Investig. Dermatol.
, vol.132
-
-
Di Salvio, M.1
Piccinni, E.2
Di Zenzo, G.3
Orecchia, A.4
Cianfarani, F.5
-
32
-
-
0030610163
-
α3β1 integrinisrequired for normal development of the epidermal basement membrane
-
DiPersio CM, Hodivala-Dilke KM, Jaenisch R, Kreidberg JA, Hynes RO. 1997. α3β1 integrinisrequired for normal development of the epidermal basement membrane. J. Cell Biol. 137:729-42
-
(1997)
J. Cell Biol.
, vol.137
, pp. 729-742
-
-
Dipersio, C.M.1
Hodivala-Dilke, K.M.2
Jaenisch, R.3
Kreidberg, J.A.4
Hynes, R.O.5
-
34
-
-
73349128433
-
Branch point and donor splice-site COL7A1 mutations in mild recessive dystrophic epidermolysis bullosa
-
Drera B, Floriddia G, Forzano F, Barlati S, Zambruno G, et al. 2009. Branch point and donor splice-site COL7A1 mutations in mild recessive dystrophic epidermolysis bullosa. Br. J. Dermatol. 161:464-67
-
(2009)
Br. J. Dermatol.
, vol.161
, pp. 464-467
-
-
Drera, B.1
Floriddia, G.2
Forzano, F.3
Barlati, S.4
Zambruno, G.5
-
35
-
-
84886793948
-
Focal adhesion complex proteins in epidermis and squamous cell carcinoma
-
Duperret EK, Ridky TW. 2013. Focal adhesion complex proteins in epidermis and squamous cell carcinoma. Cell Cycle 12:3272-85
-
(2013)
Cell Cycle
, vol.12
, pp. 3272-3285
-
-
Duperret, E.K.1
Ridky, T.W.2
-
36
-
-
0023079731
-
Altered skin basement membrane antigenicity in epidermolysis bullosa
-
Fine JD. 1987. Altered skin basement membrane antigenicity in epidermolysis bullosa. Curr. Probl. Dermatol. 17:111-26
-
(1987)
Curr. Probl. Dermatol.
, vol.17
, pp. 111-126
-
-
Fine, J.D.1
-
37
-
-
0026067709
-
Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa: A consensus report by the Subcommittee on Diagnosis and Classification of the National Epidermolysis Bullosa Registry
-
Fine JD, Bauer EA, Briggaman RA, Carter DM, Eady RA, et al. 1991. Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa: a consensus report by the Subcommittee on Diagnosis and Classification of the National Epidermolysis Bullosa Registry. J. Am. Acad. Dermatol. 24:119-35
-
(1991)
J. Am. Acad. Dermatol.
, vol.24
, pp. 119-135
-
-
Fine, J.D.1
Bauer, E.A.2
Briggaman, R.A.3
Carter, D.M.4
Eady, R.A.5
-
38
-
-
84901242657
-
Inherited epidermolysis bullosa: Updated recommendations on diagnosis and classification
-
Fine JD, Bruckner-Tuderman L, Eady RA, Eady RA, Bauer EA, Bauer JW, et al. 2014. Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification. J. Am. Acad. Dermatol. 70:1103-26
-
(2014)
J. Am. Acad. Dermatol.
, vol.70
, pp. 1103-1126
-
-
Fine, J.D.1
Bruckner-Tuderman, L.2
Eady, R.A.3
Eady, R.A.4
Bauer, E.A.5
Bauer, J.W.6
-
39
-
-
43449084027
-
The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB
-
Fine JD, Eady RA, Bauer EA, Bauer JW, Bruckner-Tuderman L, et al. 2008. The classification of inherited epidermolysis bullosa (EB): report of the Third International Consensus Meeting on Diagnosis and Classification of EB. J. Am. Acad. Dermatol. 58:931-50
-
(2008)
J. Am. Acad. Dermatol.
, vol.58
, pp. 931-950
-
-
Fine, J.D.1
Eady, R.A.2
Bauer, E.A.3
Bauer, J.W.4
Bruckner-Tuderman, L.5
-
40
-
-
14244264636
-
Collagenous transmembrane proteins: Recent insights into biology and pathology
-
Franzke CW, Bruckner P, Bruckner-Tuderman L. 2005. Collagenous transmembrane proteins: recent insights into biology and pathology. J. Biol. Chem. 280:4005-8
-
(2005)
J. Biol. Chem.
, vol.280
, pp. 4005-4008
-
-
Franzke, C.W.1
Bruckner, P.2
Bruckner-Tuderman, L.3
-
41
-
-
0035504318
-
Genetic bases of severe junctional epidermolysis bullosa presenting spontaneous amelioration with aging
-
Gache Y, Allegra M, Bodemer C, Pisani-Spadafora A, de Prost Y, et al. 2001. Genetic bases of severe junctional epidermolysis bullosa presenting spontaneous amelioration with aging. Hum. Mol. Genet. 10:2453-61
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 2453-2461
-
-
Gache, Y.1
Allegra, M.2
Bodemer, C.3
Pisani-Spadafora, A.4
De Prost, Y.5
-
42
-
-
84890804638
-
Successful therapeutic transplantation of revertant skin in epidermolysis bullosa
-
Gostyński A, Pasmooij AM, Jonkman MF. 2014. Successful therapeutic transplantation of revertant skin in epidermolysis bullosa. J. Am. Acad. Dermatol. 70:98-101
-
(2014)
J. Am. Acad. Dermatol.
, vol.70
, pp. 98-101
-
-
Gostyński, A.1
Pasmooij, A.M.2
Jonkman, M.F.3
-
43
-
-
84880393400
-
Next-generation sequencing: Methodology and application
-
Grada A, Weinbrecht K. 2013. Next-generation sequencing: methodology and application. J. Investig. Dermatol. 133:e11
-
(2013)
J. Investig. Dermatol.
, vol.133
-
-
Grada, A.1
Weinbrecht, K.2
-
44
-
-
77956660919
-
Intercellular junction assembly, dynamics, and homeostasis
-
Green KJ, Getsios S, Troyanovsky S, Godsel LM. 2010. Intercellular junction assembly, dynamics, and homeostasis. Cold Spring Harb. Perspect. Biol. 2:a000125
-
(2010)
Cold Spring Harb. Perspect. Biol.
, vol.2
-
-
Green, K.J.1
Getsios, S.2
Troyanovsky, S.3
Godsel, L.M.4
-
45
-
-
77952431203
-
A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex
-
Groves RW, Liu L, Dopping-Hepenstal PJ, Markus HS, Lovell PA, et al. 2010. A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex. J. Investig. Dermatol. 130:1551-57
-
(2010)
J. Investig. Dermatol.
, vol.130
, pp. 1551-1557
-
-
Groves, R.W.1
Liu, L.2
Dopping-Hepenstal, P.J.3
Markus, H.S.4
Lovell, P.A.5
-
46
-
-
84860595829
-
Modifier genes and the plasticity of genetic networks in mice
-
Hamilton BA, Yu BD. 2012. Modifier genes and the plasticity of genetic networks in mice. PLoS Genet. 8:e1002644
-
(2012)
PLoS Genet.
, vol.8
-
-
Hamilton, B.A.1
Yu, B.D.2
-
47
-
-
84857837774
-
JAK inhibition with rux-olitinib versus best available therapy for myelofibrosis
-
Harrison C, Kiladjian JJ, Al-Ali HK, Gisslinger H, Waltzman R, et al. 2012. JAK inhibition with rux-olitinib versus best available therapy for myelofibrosis. N. Engl. J. Med. 366:787-98
-
(2012)
N. Engl. J. Med.
, vol.366
, pp. 787-798
-
-
Harrison, C.1
Kiladjian, J.J.2
Al-Ali, H.K.3
Gisslinger, H.4
Waltzman, R.5
-
48
-
-
84872971818
-
Epidermolysis bullosa
-
ed. DL Rimoin, RE Pyeritz, BR Korf Amsterdam: Elsevier. 6th ed
-
Has C, Bruckner-Tuderman L, Uitto J. 2013. Epidermolysis bullosa. In Emery and Rimoin's Principles and Practice of Medical Genetics, ed. DL Rimoin, RE Pyeritz, BR Korf, pp. 1-24. Amsterdam: Elsevier. 6th ed.
-
(2013)
Emery and Rimoin's Principles and Practice of Medical Genetics
, pp. 1-24
-
-
Has, C.1
Bruckner-Tuderman, L.2
Uitto, J.3
-
49
-
-
80054703593
-
Kindler syndrome: Extension of FERMT1 mutational spectrum and natural history
-
Has C, Castiglia D, del Rio M, Diez MG, Piccinni E, et al. 2011. Kindler syndrome: extension of FERMT1 mutational spectrum and natural history. Hum. Mutat. 32:1204-12
-
(2011)
Hum. Mutat.
, vol.32
, pp. 1204-1212
-
-
Has, C.1
Castiglia, D.2
Del Rio, M.3
Diez, M.G.4
Piccinni, E.5
-
51
-
-
84894034315
-
The missense mutation p.R1303Q in type XVII collagen underlies junctional epidermolysis bullosa resembling Kindler syndrome
-
Has C, Kiritsi D, Mellerio JE, Franzke CW, Wedgeworth E, et al. 2014. The missense mutation p.R1303Q in type XVII collagen underlies junctional epidermolysis bullosa resembling Kindler syndrome. J. Investig. Dermatol. 134:845-49
-
(2014)
J. Investig. Dermatol.
, vol.134
, pp. 845-849
-
-
Has, C.1
Kiritsi, D.2
Mellerio, J.E.3
Franzke, C.W.4
Wedgeworth, E.5
-
52
-
-
84859826518
-
Integrin α3 mutations with kidney, lung, and skin disease
-
Has C, Sparta G, Kiritsi D, Weibel L, Moeller A, et al. 2012. Integrin α3 mutations with kidney, lung, and skin disease. N. Engl. J. Med. 366:1508-14
-
(2012)
N. Engl. J. Med.
, vol.366
, pp. 1508-1514
-
-
Has, C.1
Sparta, G.2
Kiritsi, D.3
Weibel, L.4
Moeller, A.5
-
54
-
-
0027377608
-
A homozygous insertion-deletion in the type VII collagen gene (COL7A1) in Hallopeau-Siemens dystrophic epidermolysis bullosa
-
Hilal L, Rochat A, Duquesnoy P, Blanchet-Bardon C, Wechsler J, et al. 1993. A homozygous insertion-deletion in the type VII collagen gene (COL7A1) in Hallopeau-Siemens dystrophic epidermolysis bullosa. Nat. Genet. 5:287-93
-
(1993)
Nat. Genet.
, vol.5
, pp. 287-293
-
-
Hilal, L.1
Rochat, A.2
Duquesnoy, P.3
Blanchet-Bardon, C.4
Wechsler, J.5
-
55
-
-
0019460693
-
Immunofluorescence mapping of antigenic determinants within the dermal-epidermal junction in the mechanobullous diseases
-
Hintner H, Stingl G, Schuler G, Fritsch P, Stanley J, et al. 1981. Immunofluorescence mapping of antigenic determinants within the dermal-epidermal junction in the mechanobullous diseases. J. Investig. Dermatol. 76:113-18
-
(1981)
J. Investig. Dermatol.
, vol.76
, pp. 113-118
-
-
Hintner, H.1
Stingl, G.2
Schuler, G.3
Fritsch, P.4
Stanley, J.5
-
57
-
-
0026687248
-
Genetic linkage of recessive dystrophic epidermolysis bullosa to the type VII collagen gene
-
Hovnanian A, Duquesnoy P, Blanchet-Bardon C, Knowlton RG, Amselem S, et al. 1992. Genetic linkage of recessive dystrophic epidermolysis bullosa to the type VII collagen gene. J. Clin. Investig. 90:1032-36
-
(1992)
J. Clin. Investig.
, vol.90
, pp. 1032-1036
-
-
Hovnanian, A.1
Duquesnoy, P.2
Blanchet-Bardon, C.3
Knowlton, R.G.4
Amselem, S.5
-
58
-
-
79957696056
-
Generation of keratinocytes from normal and recessive dystrophic epidermolysis bullosa-induced pluripotent stem cells
-
Itoh M, Kiuru M, Cairo MS, Christiano AM. 2011. Generation of keratinocytes from normal and recessive dystrophic epidermolysis bullosa-induced pluripotent stem cells. Proc. Natl. Acad. Sci. USA 108:8797-802
-
(2011)
Proc. Natl. Acad. Sci. USA
, vol.108
, pp. 8797-8802
-
-
Itoh, M.1
Kiuru, M.2
Cairo, M.S.3
Christiano, A.M.4
-
59
-
-
84885396246
-
Generation of 3D skin equivalents fully reconstituted from human induced pluripotent stem cells (iPSCs)
-
Itoh M, Umegaki-Arao N, Guo Z, Liu L, Higgins CA, Christiano AM. 2013. Generation of 3D skin equivalents fully reconstituted from human induced pluripotent stem cells (iPSCs). PLoS ONE 8:e77673
-
(2013)
PLoS ONE
, vol.8
-
-
Itoh, M.1
Umegaki-Arao, N.2
Guo, Z.3
Liu, L.4
Higgins, C.A.5
Christiano, A.M.6
-
60
-
-
0242515916
-
Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome
-
Jobard F, Bouadjar B, Caux F, Hadj-Rabia S, Has C, et al. 2003. Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome. Hum. Mol. Genet. 12:925-35
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 925-935
-
-
Jobard, F.1
Bouadjar, B.2
Caux, F.3
Hadj-Rabia, S.4
Has, C.5
-
61
-
-
64749092605
-
Revertant mosaicism-patchwork in the skin
-
Jonkman MF, Pasmooij AM. 2009. Revertant mosaicism-patchwork in the skin. N. Engl. J. Med. 360:1680-82
-
(2009)
N. Engl. J. Med.
, vol.360
, pp. 1680-1682
-
-
Jonkman, M.F.1
Pasmooij, A.M.2
-
62
-
-
25444463595
-
Loss of desmo-plakin tail causes lethal acantholytic epidermolysis bullosa
-
Jonkman MF, Pasmooij AM, Pasmans SG, van den Berg MP, Ter Horst HJ, et al. 2005. Loss of desmo-plakin tail causes lethal acantholytic epidermolysis bullosa. Am. J. Hum. Genet. 77:653-60
-
(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
-
63
-
-
0030975365
-
Revertant mosaicism in epider-molysis bullosa caused by mitotic gene conversion
-
Jonkman MF, Scheffer H, Stulp R, Pas HH, Nijenhuis M, et al. 1997. Revertant mosaicism in epider-molysis bullosa caused by mitotic gene conversion. Cell 88:543-51
-
(1997)
Cell
, vol.88
, pp. 543-551
-
-
Jonkman, M.F.1
Scheffer, H.2
Stulp, R.3
Pas, H.H.4
Nijenhuis, M.5
-
64
-
-
71949089798
-
Forty-two novel COL7A1 mutations and the role of a frequent single nucleotide polymorphism in the MMP1 promoter in modulation of disease severity in a large European dystrophic epidermolysis bullosa cohort
-
Kern JS, Gruninger G, Imsak R, Muller ML, Schumann H, et al. 2009. Forty-two novel COL7A1 mutations and the role of a frequent single nucleotide polymorphism in the MMP1 promoter in modulation of disease severity in a large European dystrophic epidermolysis bullosa cohort. Br. J. Dermatol. 161:1089-97
-
(2009)
Br. J. Dermatol.
, vol.161
, pp. 1089-1097
-
-
Kern, J.S.1
Gruninger, G.2
Imsak, R.3
Muller, M.L.4
Schumann, H.5
-
65
-
-
69949184884
-
Mechanisms of fibroblast cell therapy for dystrophic epidermolysis bullosa: High stability of collagen VII favors long-term skin integrity
-
Kern JS, Loeckermann S, Fritsch A, Hausser I, Roth W, et al. 2009. Mechanisms of fibroblast cell therapy for dystrophic epidermolysis bullosa: high stability of collagen VII favors long-term skin integrity. Mol. Ther. 17:1605-15
-
(2009)
Mol. Ther.
, vol.17
, pp. 1605-1615
-
-
Kern, J.S.1
Loeckermann, S.2
Fritsch, A.3
Hausser, I.4
Roth, W.5
-
66
-
-
77952425665
-
Acral peeling skin syndrome with TGM5 gene mutations may resemble epidermolysis bullosa simplex in young individuals
-
Kiritsi D, Cosgarea I, Franzke CW, Schumann H, Oji V, et al. 2010. Acral peeling skin syndrome with TGM5 gene mutations may resemble epidermolysis bullosa simplex in young individuals. J. Investig. Dermatol. 130:1741-46
-
(2010)
J. Investig. Dermatol.
, vol.130
, pp. 1741-1746
-
-
Kiritsi, D.1
Cosgarea, I.2
Franzke, C.W.3
Schumann, H.4
Oji, V.5
-
67
-
-
84860593668
-
Revertant mosaicism in a human skin fragility disorder results from slipped mispairing and mitotic recombination
-
Kiritsi D, He Y, Pasmooij AM, Onder M, Happle R, et al. 2012. Revertant mosaicism in a human skin fragility disorder results from slipped mispairing and mitotic recombination. J. Clin. Investig. 122:1742-46
-
(2012)
J. Clin. Investig.
, vol.122
, pp. 1742-1746
-
-
Kiritsi, D.1
He, Y.2
Pasmooij, A.M.3
Onder, M.4
Happle, R.5
-
68
-
-
79960296684
-
Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa
-
Kiritsi D, Kern JS, Schumann H, Kohlhase J, Has C, Bruckner-Tuderman L. 2011. Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa. J. Med. Genet. 48:450-57
-
(2011)
J. Med. Genet.
, vol.48
, pp. 450-457
-
-
Kiritsi, D.1
Kern, J.S.2
Schumann, H.3
Kohlhase, J.4
Has, C.5
Bruckner-Tuderman, L.6
-
69
-
-
84872197603
-
Epidermolysis bullosa simplex Ogna revisited
-
Kiritsi D, Pigors M, Tantcheva-Poor I, Wessel C, Arin MJ, et al. 2013. Epidermolysis bullosa simplex Ogna revisited. J. Investig. Dermatol. 133:270-73
-
(2013)
J. Investig. Dermatol.
, vol.133
, pp. 270-273
-
-
Kiritsi, D.1
Pigors, M.2
Tantcheva-Poor, I.3
Wessel, C.4
Arin, M.J.5
-
70
-
-
84937083226
-
Hereditäre Anlage zur Blasenbildung (epidermolysis bullosa hereditare)
-
Koebner H. 1886. Hereditäre Anlage zur Blasenbildung (epidermolysis bullosa hereditare). Dtsch. Med. Wochenschr. 12:21-22
-
(1886)
Dtsch. Med. Wochenschr.
, vol.12
, pp. 21-22
-
-
Koebner, H.1
-
71
-
-
79955435400
-
Exon 87 skipping of the COL7A1 gene in dominant dystrophic epidermolysis bullosa
-
Koga H, Hamada T, Ishii N, Fukuda S, Sakaguchi S, et al. 2011. Exon 87 skipping of the COL7A1 gene in dominant dystrophic epidermolysis bullosa. J. Dermatol. 38:489-92
-
(2011)
J. Dermatol.
, vol.38
, pp. 489-492
-
-
Koga, H.1
Hamada, T.2
Ishii, N.3
Fukuda, S.4
Sakaguchi, S.5
-
72
-
-
0036151350
-
A site-specific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: Two identical de novo mutations
-
Koss-Harnes D, Hoyheim B, Anton-Lamprecht I, Gjesti A, Jorgensen RS, et al. 2002. A site-specific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: two identical de novo mutations. J. Investig. Dermatol. 118:87-93
-
(2002)
J. Investig. Dermatol.
, vol.118
, pp. 87-93
-
-
Koss-Harnes, D.1
Hoyheim, B.2
Anton-Lamprecht, I.3
Gjesti, A.4
Jorgensen, R.S.5
-
73
-
-
0029855437
-
Alpha 3 beta 1 integrin has a crucial role in kidney and lung organogenesis
-
Kreidberg JA, Donovan MJ, Goldstein SL, Rennke H, Shepherd K, et al. 1996. Alpha 3 beta 1 integrin has a crucial role in kidney and lung organogenesis. Development 122:3537-47
-
(1996)
Development
, vol.122
, pp. 3537-3547
-
-
Kreidberg, J.A.1
Donovan, M.J.2
Goldstein, S.L.3
Rennke, H.4
Shepherd, K.5
-
74
-
-
84883882565
-
Acral peeling skin syndrome resulting from a homozygous nonsense mutation in the CSTA gene encoding cystatin A
-
Krunic AL, Stone KL, Simpson MA, McGrath JA. 2013. Acral peeling skin syndrome resulting from a homozygous nonsense mutation in the CSTA gene encoding cystatin A. Pediatr. Dermatol. 30:e87-88
-
(2013)
Pediatr. Dermatol.
, vol.30
-
-
Krunic, A.L.1
Stone, K.L.2
Simpson, M.A.3
McGrath, J.A.4
-
75
-
-
84888346234
-
Repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons
-
Kuschal C, DiGiovanna JJ, Khan SG, Gatti RA, Kraemer KH. 2014. Repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons. Proc. Natl. Acad. Sci. USA 110:19483-88
-
(2014)
Proc. Natl. Acad. Sci. USA
, vol.110
, pp. 19483-19488
-
-
Kuschal, C.1
Digiovanna, J.J.2
Khan, S.G.3
Gatti, R.A.4
Kraemer, K.H.5
-
77
-
-
76349084709
-
First-in-human mutation-targeted siRNA phase Ib trial of an inherited skin disorder
-
Leachman SA, Hickerson RP, Schwartz ME, Bullough EE, Hutcherson SL, et al. 2010. First-in-human mutation-targeted siRNA phase Ib trial of an inherited skin disorder. Mol. Ther. 18:442-46
-
(2010)
Mol. Ther.
, vol.18
, pp. 442-446
-
-
Leachman, S.A.1
Hickerson, R.P.2
Schwartz, M.E.3
Bullough, E.E.4
Hutcherson, S.L.5
-
78
-
-
84857058174
-
Autosomal recessive epider-molysis bullosa simplex due to loss of BPAG1-e expression
-
Liu L, Dopping-Hepenstal PJ, Lovell PA, Michael M, Horn H, et al. 2012. Autosomal recessive epider-molysis bullosa simplex due to loss of BPAG1-e expression. J. Investig. Dermatol. 132:742-44
-
(2012)
J. Investig. Dermatol.
, vol.132
, pp. 742-744
-
-
Liu, L.1
Dopping-Hepenstal, P.J.2
Lovell, P.A.3
Michael, M.4
Horn, H.5
-
79
-
-
78649867535
-
Unique and redundant functions of integrins in the epidermis
-
Margadant C, Charafeddine RA, Sonnenberg A. 2010. Unique and redundant functions of integrins in the epidermis. FASEB J. 24:4133-52
-
(2010)
FASEB J.
, vol.24
, pp. 4133-4152
-
-
Margadant, C.1
Charafeddine, R.A.2
Sonnenberg, A.3
-
81
-
-
0027420876
-
Basementmembrane proteins kalinin and nicein are structurally and immunologically identical
-
Marinkovich MP, Verrando P, Keene DR, Meneguzzi G, Lunstrum GP, et al. 1993.Basementmembrane proteins kalinin and nicein are structurally and immunologically identical. Lab. Investig. 69:295-99
-
(1993)
Lab. Investig.
, vol.69
, pp. 295-299
-
-
Marinkovich, M.P.1
Verrando, P.2
Keene, D.R.3
Meneguzzi, G.4
Lunstrum, G.P.5
-
82
-
-
33845524625
-
Correction of junctional epidermolysis bullosa by transplantation of genetically modified epidermal stem cells
-
Mavilio F, Pellegrini G, Ferrari S, Di Nunzio F, Di Iorio E, et al. 2006. Correction of junctional epidermolysis bullosa by transplantation of genetically modified epidermal stem cells. Nat. Med. 12:1397-402
-
(2006)
Nat. Med.
, vol.12
, pp. 1397-1402
-
-
Mavilio, F.1
Pellegrini, G.2
Ferrari, S.3
Di Nunzio, F.4
Di Iorio, E.5
-
84
-
-
0029121987
-
Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa
-
McGrath JA, Gatalica B, Christiano AM, Li K, Owaribe K, et al. 1995. Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa. Nat. Genet. 11:83-86
-
(1995)
Nat. Genet.
, vol.11
, pp. 83-86
-
-
McGrath, J.A.1
Gatalica, B.2
Christiano, A.M.3
Li, K.4
Owaribe, K.5
-
85
-
-
84984774604
-
Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome
-
McGrath JA, McMillan JR, Shemanko CS, Runswick SK, Leigh IM, et al. 1997. Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome. Nat. Genet. 17:240-44
-
(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
-
86
-
-
84870864024
-
Germline mutation in EXPH5 implicates the Rab27B effector protein Slac2-b in inherited skin fragility
-
McGrath JA, Stone KL, Begum R, Simpson MA, Dopping-Hepenstal PJ, et al. 2012. Germline mutation in EXPH5 implicates the Rab27B effector protein Slac2-b in inherited skin fragility. Am. J. Hum. Genet. 91:1115-21
-
(2012)
Am. J. Hum. Genet.
, vol.91
, pp. 1115-1121
-
-
McGrath, J.A.1
Stone, K.L.2
Begum, R.3
Simpson, M.A.4
Dopping-Hepenstal, P.J.5
-
88
-
-
84870522502
-
Gain of glycosylation in integrin α3 causes lung disease and nephrotic syndrome
-
Nicolaou N, Margadant C, Kevelam SH, Lilien MR, Oosterveld MJ, et al. 2012. Gain of glycosylation in integrin α3 causes lung disease and nephrotic syndrome. J. Clin. Investig. 122:4375-87
-
(2012)
J. Clin. Investig.
, vol.122
, pp. 4375-4387
-
-
Nicolaou, N.1
Margadant, C.2
Kevelam, S.H.3
Lilien, M.R.4
Oosterveld, M.J.5
-
89
-
-
84880560978
-
Collagen VII plays a dual role in wound healing
-
Nystrom A, Velati D, Mittapalli VR, Fritsch A, Kern JS, Bruckner-Tuderman L. 2013. Collagen VII plays a dual role in wound healing. J. Clin. Investig. 123:3498-509
-
(2013)
J. Clin. Investig.
, vol.123
, pp. 3498-3509
-
-
Nystrom, A.1
Velati, D.2
Mittapalli, V.R.3
Fritsch, A.4
Kern, J.S.5
Bruckner-Tuderman, L.6
-
90
-
-
84904023423
-
Monozygotic twins discordant for recessive dystrophic epidermolysis bullosa phenotype highlight the role of TGF-β signalling in modifying disease severity
-
In press. doi: 10.1093/hmg/ddu102
-
Odorisio T, Di Salvio M, Orecchia A, Di Zenzo G, Piccinni E, et al. 2014. Monozygotic twins discordant for recessive dystrophic epidermolysis bullosa phenotype highlight the role of TGF-β signalling in modifying disease severity. Hum. Mol. Genet. In press. doi: 10.1093/hmg/ddu102
-
(2014)
Hum. Mol. Genet
-
-
Odorisio, T.1
Di Salvio, M.2
Orecchia, A.3
Di Zenzo, G.4
Piccinni, E.5
-
91
-
-
80052599015
-
Efficiency of translation termination in humans is highly dependent upon nucleotides in the neighbourhood of a (premature) termination codon
-
Pacho F, Zambruno G, Calabresi V, Kiritsi D, Schneider H. 2011. Efficiency of translation termination in humans is highly dependent upon nucleotides in the neighbourhood of a (premature) termination codon. J. Med. Genet. 48:640-44
-
(2011)
J. Med. Genet.
, vol.48
, pp. 640-644
-
-
Pacho, F.1
Zambruno, G.2
Calabresi, V.3
Kiritsi, D.4
Schneider, H.5
-
92
-
-
77956870608
-
Revertant mosaicism due to a second-site mutation in COL7A1 in a patient with recessive dystrophic epidermolysis bullosa
-
Pasmooij AM, Garcia M, Escamez MJ, Nijenhuis AM, Azon A, et al. 2010. Revertant mosaicism due to a second-site mutation in COL7A1 in a patient with recessive dystrophic epidermolysis bullosa. J. Investig. Dermatol. 130:2407-11
-
(2010)
J. Investig. Dermatol.
, vol.130
, pp. 2407-2411
-
-
Pasmooij, A.M.1
Garcia, M.2
Escamez, M.J.3
Nijenhuis, A.M.4
Azon, A.5
-
94
-
-
84874165115
-
Revertant mosaicism in heritable skin diseases-mechanisms of natural gene therapy
-
Pasmooij AM, Jonkman MF, Uitto J. 2012. Revertant mosaicism in heritable skin diseases-mechanisms of natural gene therapy. Discov. Med. 14:167-79
-
(2012)
Discov. Med.
, vol.14
, pp. 167-179
-
-
Pasmooij, A.M.1
Jonkman, M.F.2
Uitto, J.3
-
95
-
-
84859770188
-
Natural gene therapy may occur in all patients with generalized non-Herlitz junctional epidermolysis bullosa with COL17A1 mutations
-
Pasmooij AM, Nijenhuis M, Brander R, Jonkman MF. 2012. Natural gene therapy may occur in all patients with generalized non-Herlitz junctional epidermolysis bullosa with COL17A1 mutations. J. Investig. Dermatol. 132:1374-83
-
(2012)
J. Investig. Dermatol.
, vol.132
, pp. 1374-1383
-
-
Pasmooij, A.M.1
Nijenhuis, M.2
Brander, R.3
Jonkman, M.F.4
-
96
-
-
27244452774
-
Multiple correcting COL17A1 mutations in patients with revertant mosaicism of epidermolysis bullosa
-
Pasmooij AM, Pas HH, Deviaene FC, Nijenhuis M, Jonkman MF. 2005. Multiple correcting COL17A1 mutations in patients with revertant mosaicism of epidermolysis bullosa. Am. J. Hum. Genet. 77:727-40
-
(2005)
Am. J. Hum. Genet.
, vol.77
, pp. 727-740
-
-
Pasmooij, A.M.1
Pas, H.H.2
Deviaene, F.C.3
Nijenhuis, M.4
Jonkman, M.F.5
-
97
-
-
0000010578
-
Studies on the pathogenesis of epidermolysis bullosa
-
Pearson RW. 1962. Studies on the pathogenesis of epidermolysis bullosa. J. Investig. Dermatol. 39:551-75
-
(1962)
J. Investig. Dermatol.
, vol.39
, pp. 551-575
-
-
Pearson, R.W.1
-
98
-
-
84887040998
-
Fibroblast cell therapy enhances initial healing in recessive dystrophic epidermolysis bullosa wounds: Results of a randomized, vehicle-controlled trial
-
Petrof G, Martinez-Queipo M, Mellerio JE, Kemp P, McGrath JA. 2013. Fibroblast cell therapy enhances initial healing in recessive dystrophic epidermolysis bullosa wounds: results of a randomized, vehicle-controlled trial. Br. J. Dermatol. 169:1025-33
-
(2013)
Br. J. Dermatol.
, vol.169
, pp. 1025-1033
-
-
Petrof, G.1
Martinez-Queipo, M.2
Mellerio, J.E.3
Kemp, P.4
McGrath, J.A.5
-
100
-
-
84866381515
-
TGM5 mutations impact epidermal differentiation in acral peeling skin syndrome
-
Pigors M, Kiritsi D, Cobzaru C, Schwieger-Briel A, Suarez J, et al. 2012. TGM5 mutations impact epidermal differentiation in acral peeling skin syndrome. J. Investig. Dermatol. 132:2422-29
-
(2012)
J. Investig. Dermatol.
, vol.132
, pp. 2422-2429
-
-
Pigors, M.1
Kiritsi, D.2
Cobzaru, C.3
Schwieger-Briel, A.4
Suarez, J.5
-
101
-
-
79954558531
-
Lack of plakoglobin leads to lethal congenital epidermolysis bullosa: A novel clinico-genetic entity
-
Pigors M, Kiritsi D, Krumpelmann S, Wagner N, He Y, et al. 2011. Lack of plakoglobin leads to lethal congenital epidermolysis bullosa: a novel clinico-genetic entity. Hum. Mol. Genet. 20:1811-19
-
(2011)
Hum. Mol. Genet.
, vol.20
, pp. 1811-1819
-
-
Pigors, M.1
Kiritsi, D.2
Krumpelmann, S.3
Wagner, N.4
He, Y.5
-
102
-
-
84894105730
-
Molecular heterogeneity of epidermolysis bullosa simplex: Contribution of EXPH5 mutations
-
Pigors M, Schwieger-Briel A, Leppert J, Kiritsi D, Kohlhase J, et al. 2014. Molecular heterogeneity of epidermolysis bullosa simplex: contribution of EXPH5 mutations. J. Investig. Dermatol. 134:842-45
-
(2014)
J. Investig. Dermatol.
, vol.134
, pp. 842-845
-
-
Pigors, M.1
Schwieger-Briel, A.2
Leppert, J.3
Kiritsi, D.4
Kohlhase, J.5
-
103
-
-
77952527039
-
Immunofluorescence mapping for the diagnosis of epidermolysis bullosa
-
Pohla-Gubo G, Cepeda-Valdes R, Hintner H. 2010. Immunofluorescence mapping for the diagnosis of epidermolysis bullosa. Dermatol. Clin. 28:201-10
-
(2010)
Dermatol. Clin.
, vol.28
, pp. 201-210
-
-
Pohla-Gubo, G.1
Cepeda-Valdes, R.2
Hintner, H.3
-
104
-
-
79951674166
-
COL7A1 recessive mutations in two siblings with distinct subtypes of dystrophic epidermolysis bullosa: Pruriginosa versus nails only
-
Pruneddu S, Castiglia D, Floriddia G, Cottoni F, Zambruno G. 2011. COL7A1 recessive mutations in two siblings with distinct subtypes of dystrophic epidermolysis bullosa: pruriginosa versus nails only. Dermatology 222:10-14
-
(2011)
Dermatology
, vol.222
, pp. 10-14
-
-
Pruneddu, S.1
Castiglia, D.2
Floriddia, G.3
Cottoni, F.4
Zambruno, G.5
-
105
-
-
58149250413
-
Injection of recombinant human type VII collagen corrects the disease phenotype in a murine model of dystrophic epidermolysis bullosa
-
Remington J, Wang X, Hou Y, Zhou H, Burnett J, et al. 2009. Injection of recombinant human type VII collagen corrects the disease phenotype in a murine model of dystrophic epidermolysis bullosa. Mol. Ther. 17:26-33
-
(2009)
Mol. Ther.
, vol.17
, pp. 26-33
-
-
Remington, J.1
Wang, X.2
Hou, Y.3
Zhou, H.4
Burnett, J.5
-
106
-
-
0018890576
-
Prenatal diagnosis of epidermolysis bullosa letalis
-
Rodeck CH, Eady RA, Gosden CM. 1980. Prenatal diagnosis of epidermolysis bullosa letalis. Lancet 315:949-52
-
(1980)
Lancet
, vol.315
, pp. 949-952
-
-
Rodeck, C.H.1
Eady, R.A.2
Gosden, C.M.3
-
107
-
-
0035132809
-
A homozygous nonsense mutation in type XVII collagen gene (COL17A1) uncovers an alternatively spliced mRNA accounting for an unusually mild form of non-Herlitz junctional epidermolysis bullosa
-
Ruzzi L, Pas H, Posteraro P, Mazzanti C, Didona B, et al. 2001. A homozygous nonsense mutation in type XVII collagen gene (COL17A1) uncovers an alternatively spliced mRNA accounting for an unusually mild form of non-Herlitz junctional epidermolysis bullosa. J. Investig. Dermatol. 116:182-87
-
(2001)
J. Investig. Dermatol.
, vol.116
, pp. 182-187
-
-
Ruzzi, L.1
Pas, H.2
Posteraro, P.3
Mazzanti, C.4
Didona, B.5
-
108
-
-
0025939944
-
Human type VII collagen: Genetic linkage of the gene (COL7A1) on chromosome 3 to dominant dystrophic epidermolysis bullosa
-
Ryynanen M, Knowlton RG, Parente MG, Chung LC, Chu ML, Uitto J. 1991. Human type VII collagen: genetic linkage of the gene (COL7A1) on chromosome 3 to dominant dystrophic epidermolysis bullosa. Am. J. Hum. Genet. 49:797-803
-
(1991)
Am. J. Hum. Genet.
, vol.49
, pp. 797-803
-
-
Ryynanen, M.1
Knowlton, R.G.2
Parente, M.G.3
Chung, L.C.4
Chu, M.L.5
Uitto, J.6
-
109
-
-
0025988528
-
Mapping of epidermolysis bullosa simplex mutation to chromosome 12
-
Ryynanen M, Knowlton RG, Uitto J. 1991. Mapping of epidermolysis bullosa simplex mutation to chromosome 12. Am. J. Hum. Genet. 49:978-84
-
(1991)
Am. J. Hum. Genet.
, vol.49
, pp. 978-984
-
-
Ryynanen, M.1
Knowlton, R.G.2
Uitto, J.3
-
110
-
-
0026546310
-
Genetic linkage of type VII collagen (COL7A1) to dominant dystrophic epidermolysis bullosa in families with abnormal anchoring fibrils
-
Ryynanen M, Ryynanen J, Sollberg S, Iozzo RV, Knowlton RG, Uitto J. 1992. Genetic linkage of type VII collagen (COL7A1) to dominant dystrophic epidermolysis bullosa in families with abnormal anchoring fibrils. J. Clin. Investig. 89:974-80
-
(1992)
J. Clin. Investig.
, vol.89
, pp. 974-980
-
-
Ryynanen, M.1
Ryynanen, J.2
Sollberg, S.3
Iozzo, R.V.4
Knowlton, R.G.5
Uitto, J.6
-
111
-
-
0023035458
-
Type VII collagen is a major structural component of anchoring fibrils
-
Sakai LY, Keene DR, Morris NP, Burgeson RE. 1986. Type VII collagen is a major structural component of anchoring fibrils. J. Cell Biol. 103:1577-86
-
(1986)
J. Cell Biol.
, vol.103
, pp. 1577-1586
-
-
Sakai, L.Y.1
Keene, D.R.2
Morris, N.P.3
Burgeson, R.E.4
-
112
-
-
84894269506
-
Next generation diagnostics of heritable connective tissue disorders
-
Salam A, Simpson MA, Stone KL, Takeichi T, Nanda A, et al. 2014. Next generation diagnostics of heritable connective tissue disorders. Matrix Biol. 33:35-40
-
(2014)
Matrix Biol.
, vol.33
, pp. 35-40
-
-
Salam, A.1
Simpson, M.A.2
Stone, K.L.3
Takeichi, T.4
Nanda, A.5
-
113
-
-
0036226320
-
Partial revertant mosaicism of keratin 14 in a patient with recessive epidermolysis bullosa simplex
-
Schuilenga-Hut PH, Scheffer H, Pas HH, Nijenhuis M, Buys CH, Jonkman MF. 2002. Partial revertant mosaicism of keratin 14 in a patient with recessive epidermolysis bullosa simplex. J. Investig. Dermatol. 118:626-30
-
(2002)
J. Investig. Dermatol.
, vol.118
, pp. 626-630
-
-
Schuilenga-Hut, P.H.1
Scheffer, H.2
Pas, H.H.3
Nijenhuis, M.4
Buys, C.H.5
Jonkman, M.F.6
-
114
-
-
84879912181
-
Phenotypic spectrum of epider-molysis bullosa associated with α6β4 integrin mutations
-
Schumann H, Kiritsi D, Pigors M, Hausser I, Kohlhase J, et al. 2013. Phenotypic spectrum of epider-molysis bullosa associated with α6β4 integrin mutations. Br. J. Dermatol. 169:115-24
-
(2013)
Br. J. Dermatol.
, vol.169
, pp. 115-124
-
-
Schumann, H.1
Kiritsi, D.2
Pigors, M.3
Hausser, I.4
Kohlhase, J.5
-
115
-
-
84872617905
-
Targeted sequence capture and high-throughput sequencing in the molecular diagnosis of ichthyosis and other skin diseases
-
Scott CA, Plagnol V, Nitoiu D, Bland PJ, Blaydon DC, et al. 2013. Targeted sequence capture and high-throughput sequencing in the molecular diagnosis of ichthyosis and other skin diseases. J. Investig. Dermatol. 133:573-76
-
(2013)
J. Investig. Dermatol.
, vol.133
, pp. 573-576
-
-
Scott, C.A.1
Plagnol, V.2
Nitoiu, D.3
Bland, P.J.4
Blaydon, D.C.5
-
116
-
-
1642452814
-
Novel mechanismofrevertant mosaicisminDowling-Meara epidermolysis bullosa simplex
-
Smith FJ, Morley SM, McLean WH. 2004. Novel mechanismofrevertant mosaicisminDowling-Meara epidermolysis bullosa simplex. J. Investig. Dermatol. 122:73-77
-
(2004)
J. Investig. Dermatol.
, vol.122
, pp. 73-77
-
-
Smith, F.J.1
Morley, S.M.2
McLean, W.H.3
-
117
-
-
84901743181
-
Molecular identification of collagen 17α1 as a major genetic modifier of laminin gamma 2 mutation-induced junctional epidermolysis bullosa in mice
-
Sproule TJ, Bubier JA, Grandi FC, Sun VZ, Philip VM, et al. 2014. Molecular identification of collagen 17α1 as a major genetic modifier of laminin gamma 2 mutation-induced junctional epidermolysis bullosa in mice. PLoS Genet. 10:e1004068
-
(2014)
PLoS Genet.
, vol.10
-
-
Sproule, T.J.1
Bubier, J.A.2
Grandi, F.C.3
Sun, V.Z.4
Philip, V.M.5
-
118
-
-
79955619770
-
PDGFRα-positive cells in bone marrow are mobilized by high mobility group box 1 (HMGB1) to regenerate injured epithelia
-
Tamai K, Yamazaki T, Chino T, Ishii M, Otsuru S, et al. 2011. PDGFRα-positive cells in bone marrow are mobilized by high mobility group box 1 (HMGB1) to regenerate injured epithelia. Proc. Natl. Acad. Sci. USA 108:6609-14
-
(2011)
Proc. Natl. Acad. Sci. USA
, vol.108
, pp. 6609-6614
-
-
Tamai, K.1
Yamazaki, T.2
Chino, T.3
Ishii, M.4
Otsuru, S.5
-
119
-
-
38949094346
-
A frequent functional SNP in the MMP1 promoter is associated with higher disease severity in recessive dystrophic epidermolysis bullosa
-
Titeux M, Pendaries V, Tonasso L, Decha A, Bodemer C, Hovnanian A. 2008. A frequent functional SNP in the MMP1 promoter is associated with higher disease severity in recessive dystrophic epidermolysis bullosa. Hum. Mutat. 29:267-76
-
(2008)
Hum. Mutat.
, vol.29
, pp. 267-276
-
-
Titeux, M.1
Pendaries, V.2
Tonasso, L.3
Decha, A.4
Bodemer, C.5
Hovnanian, A.6
-
120
-
-
60849091919
-
Amelioration of epi-dermolysis bullosa by transfer of wild-type bone marrow cells
-
Tolar J, Ishida-Yamamoto A, Riddle M, McElmurry RT, Osborn M, et al. 2009. Amelioration of epi-dermolysis bullosa by transfer of wild-type bone marrow cells. Blood 113:1167-74
-
(2009)
Blood
, vol.113
, pp. 1167-1174
-
-
Tolar, J.1
Ishida-Yamamoto, A.2
Riddle, M.3
McElmurry, R.T.4
Osborn, M.5
-
121
-
-
84884945700
-
Allogeneic blood and bone marrow cells for the treatment of severe epider-molysis bullosa: Repair of the extracellular matrix
-
Tolar J, Wagner JE. 2013. Allogeneic blood and bone marrow cells for the treatment of severe epider-molysis bullosa: repair of the extracellular matrix. Lancet 382:1214-23
-
(2013)
Lancet
, vol.382
, pp. 1214-1223
-
-
Tolar, J.1
Wagner, J.E.2
-
122
-
-
84872595258
-
Keratinocytes from induced pluripotent stem cells in junctional epidermolysis bullosa
-
Tolar J, Xia L, Lees CJ, Riddle M, McElroy A, et al. 2013. Keratinocytes from induced pluripotent stem cells in junctional epidermolysis bullosa. J. Investig. Dermatol. 133:562-65
-
(2013)
J. Investig. Dermatol.
, vol.133
, pp. 562-565
-
-
Tolar, J.1
Xia, L.2
Lees, C.J.3
Riddle, M.4
McElroy, A.5
-
123
-
-
84883049235
-
Milestones in genetics of structural skin disorders
-
Uitto J. 2012. Milestones in genetics of structural skin disorders. J. Investig. Dermatol. 132:E1
-
(2012)
J. Investig. Dermatol.
, vol.132
-
-
Uitto, J.1
-
125
-
-
79951813798
-
The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen
-
van den Akker PC, Mellerio JE, Martinez AE, Liu L, Meijer R, et al. 2011. The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen. J. Med. Genet. 48:160-67
-
(2011)
J. Med. Genet.
, vol.48
, pp. 160-167
-
-
Van Den Akker, P.C.1
Mellerio, J.E.2
Martinez, A.E.3
Liu, L.4
Meijer, R.5
-
126
-
-
84857388033
-
Natural gene therapy in dystrophic epidermolysis bullosa
-
van den Akker PC, Nijenhuis M, Meijer G, Hofstra RM, Jonkman MF, Pasmooij AM. 2012. Natural gene therapy in dystrophic epidermolysis bullosa. Arch. Dermatol. 148:213-16
-
(2012)
Arch. Dermatol.
, vol.148
, pp. 213-216
-
-
Van Den Akker, P.C.1
Nijenhuis, M.2
Meijer, G.3
Hofstra, R.M.4
Jonkman, M.F.5
Pasmooij, A.M.6
-
127
-
-
7244255954
-
The α1.α2 network of collagen IV: Reinforced stabilization of the noncollagenous domain-1 by noncovalent forces and the absence of Met-Lys cross-links
-
Vanacore RM, Shanmugasundararaj S, Friedman DB, Bondar O, Hudson BG, Sundaramoorthy M. 2004. The α1.α2 network of collagen IV: reinforced stabilization of the noncollagenous domain-1 by noncovalent forces and the absence of Met-Lys cross-links. J. Biol. Chem. 279:44723-30
-
(2004)
J. Biol. Chem.
, vol.279
, pp. 44723-44730
-
-
Vanacore, R.M.1
Shanmugasundararaj, S.2
Friedman, D.B.3
Bondar, O.4
Hudson, B.G.5
Sundaramoorthy, M.6
-
128
-
-
84887998916
-
A phase II randomized vehicle-controlled trial of intradermal allogeneic fibroblasts for recessive dystrophic epidermolysis bullosa
-
Venugopal SS, Yan W, Frew JW, Cohn HI, Rhodes LM, et al. 2013. A phase II randomized vehicle-controlled trial of intradermal allogeneic fibroblasts for recessive dystrophic epidermolysis bullosa. J. Am. Acad. Dermatol. 69:898-908
-
(2013)
J. Am. Acad. Dermatol.
, vol.69
, pp. 898-908
-
-
Venugopal, S.S.1
Yan, W.2
Frew, J.W.3
Cohn, H.I.4
Rhodes, L.M.5
-
129
-
-
54049117263
-
Supramolecular interactions in the dermo-epidermal junction zone: Anchoring fibril-collagen VII tightly binds to banded collagen fibrils
-
Villone D, Fritsch A, Koch M, Bruckner-Tuderman L, Hansen U, Bruckner P. 2008. Supramolecular interactions in the dermo-epidermal junction zone: anchoring fibril-collagen VII tightly binds to banded collagen fibrils. J. Biol. Chem. 283:24506-13
-
(2008)
J. Biol. Chem.
, vol.283
, pp. 24506-24513
-
-
Villone, D.1
Fritsch, A.2
Koch, M.3
Bruckner-Tuderman, L.4
Hansen, U.5
Bruckner, P.6
-
130
-
-
77956621310
-
Bone marrow transplantation for recessive dystrophic epidermolysis bullosa
-
Wagner JE, Ishida-Yamamoto A, McGrath JA, Hordinsky M, Keene DR, et al. 2010. Bone marrow transplantation for recessive dystrophic epidermolysis bullosa. N. Engl. J. Med. 363:629-39
-
(2010)
N. Engl. J. Med.
, vol.363
, pp. 629-639
-
-
Wagner, J.E.1
Ishida-Yamamoto, A.2
McGrath, J.A.3
Hordinsky, M.4
Keene, D.R.5
-
131
-
-
84855265955
-
Targeted proteolysis of plectin isoform 1a accounts for hemidesmosome dysfunction in mice mimicking the dominant skin blistering disease EBS-Ogna
-
Walko G, Vukasinovic N, Gross K, Fischer I, Sibitz S, et al. 2011. Targeted proteolysis of plectin isoform 1a accounts for hemidesmosome dysfunction in mice mimicking the dominant skin blistering disease EBS-Ogna. PLoS Genet. 7:e1002396
-
(2011)
PLoS Genet.
, vol.7
-
-
Walko, G.1
Vukasinovic, N.2
Gross, K.3
Fischer, I.4
Sibitz, S.5
-
132
-
-
16844370056
-
Genotype-phenotype correlation in recessive dystrophic epidermolysis bullosa: When missense doesn't make sense
-
Wessagowit V, Kim SC, Woong Oh S, McGrath JA. 2005. Genotype-phenotype correlation in recessive dystrophic epidermolysis bullosa: when missense doesn't make sense. J. Investig. Dermatol. 124:863-66
-
(2005)
J. Investig. Dermatol.
, vol.124
, pp. 863-866
-
-
Wessagowit, V.1
Kim, S.C.2
Woong Oh, S.3
McGrath, J.A.4
-
133
-
-
84992236576
-
Plectin isoforms as organizers of intermediate filament cytoarchitecture
-
Wiche G, Winter L. 2011. Plectin isoforms as organizers of intermediate filament cytoarchitecture. Bioarchitecture 1:14-20
-
(2011)
Bioarchitecture
, vol.1
, pp. 14-20
-
-
Wiche, G.1
Winter, L.2
-
134
-
-
49549096936
-
Potential of fibroblast cell therapy for recessive dystrophic epidermolysis bullosa
-
Wong T, Gammon L, Liu L, Mellerio JE, Dopping-Hepenstal PJ, et al. 2008. Potential of fibroblast cell therapy for recessive dystrophic epidermolysis bullosa. J. Investig. Dermatol. 128:2179-89
-
(2008)
J. Investig. Dermatol.
, vol.128
, pp. 2179-2189
-
-
Wong, T.1
Gammon, L.2
Liu, L.3
Mellerio, J.E.4
Dopping-Hepenstal, P.J.5
-
135
-
-
0242658535
-
Normal and gene-corrected dystrophic epidermolysis bullosa fibroblasts alone can produce type VII collagen at the basement membrane zone
-
Woodley DT, Krueger GG, Jorgensen CM, Fairley JA, Atha T, et al. 2003. Normal and gene-corrected dystrophic epidermolysis bullosa fibroblasts alone can produce type VII collagen at the basement membrane zone. J. Investig. Dermatol. 121:1021-28
-
(2003)
J. Investig. Dermatol.
, vol.121
, pp. 1021-1028
-
-
Woodley, D.T.1
Krueger, G.G.2
Jorgensen, C.M.3
Fairley, J.A.4
Atha, T.5
-
136
-
-
84879412500
-
Intravenously injected recombinant human type VII collagen homes to skin wounds and restores skin integrity of dystrophic epidermolysis bullosa
-
Woodley DT, Wang X, Amir M, Hwang B, Remington J, et al. 2013. Intravenously injected recombinant human type VII collagen homes to skin wounds and restores skin integrity of dystrophic epidermolysis bullosa. J. Investig. Dermatol. 133:1910-13
-
(2013)
J. Investig. Dermatol.
, vol.133
, pp. 1910-1913
-
-
Woodley, D.T.1
Wang, X.2
Amir, M.3
Hwang, B.4
Remington, J.5
-
137
-
-
57749112119
-
Recombinant collagen studies link the severe conformational changes induced by osteogenesis imperfecta mutations to the disruption of a set of interchain salt bridges
-
Xu K, Nowak I, Kirchner M, Xu Y. 2008. Recombinant collagen studies link the severe conformational changes induced by osteogenesis imperfecta mutations to the disruption of a set of interchain salt bridges. J. Biol. Chem. 283:34337-44
-
(2008)
J. Biol. Chem.
, vol.283
, pp. 34337-34344
-
-
Xu, K.1
Nowak, I.2
Kirchner, M.3
Xu, Y.4
-
138
-
-
70450240957
-
Non-Herlitz junctional epidermolysis bullosa
-
Yancey KB, Hintner H. 2010. Non-Herlitz junctional epidermolysis bullosa. Dermatol. Clin. 28:67-77
-
(2010)
Dermatol. Clin.
, vol.28
, pp. 67-77
-
-
Yancey, K.B.1
Hintner, H.2
-
139
-
-
84868200181
-
An incompletely penetrant novel mutation in COL7A1 causes epidermolysis bullosa pruriginosa and dominant dystrophic epidermolysis bullosa phenotypes in an extended kindred
-
Yang CS, Lu Y, Farhi A, Nelson-Williams C, Kashgarian M, et al. 2012. An incompletely penetrant novel mutation in COL7A1 causes epidermolysis bullosa pruriginosa and dominant dystrophic epidermolysis bullosa phenotypes in an extended kindred. Pediatr. Dermatol. 29:725-31
-
(2012)
Pediatr. Dermatol.
, vol.29
, pp. 725-731
-
-
Yang, C.S.1
Lu, Y.2
Farhi, A.3
Nelson-Williams, C.4
Kashgarian, M.5
-
140
-
-
84885785987
-
Clinical whole-exome sequencing for the diagnosis of Mendelian disorders
-
Yang Y, Muzny DM, Reid JG, Bainbridge MN, Willis A, et al. 2013. Clinical whole-exome sequencing for the diagnosis of Mendelian disorders. N. Engl. J. Med. 369:1502-11
-
(2013)
N. Engl. J. Med.
, vol.369
, pp. 1502-1511
-
-
Yang, Y.1
Muzny, D.M.2
Reid, J.G.3
Bainbridge, M.N.4
Willis, A.5
|