A recurrent ‘hot spot’ glycine substitution mutation, G2043R in COL7A1, induces dominant dystrophic epidermolysis bullosa associated with intracytoplasmic accumulation of pro-collagen VII

Glycine Substitution ◽

Substitution Mutation ◽

Rat Model for Dominant Dystrophic Epidermolysis Bullosa: Glycine Substitution Reduces Collagen VII Stability and Shows Gene-Dosage Effect

PLoS ONE ◽

10.1371/journal.pone.0064243 ◽

2013 ◽

Vol 8 (5) ◽

pp. e64243 ◽

Cited By ~ 10

Author(s):

Alexander Nyström ◽

Jens Buttgereit ◽

Michael Bader ◽

Tatiana Shmidt ◽

Cemil Özcelik ◽

...

Keyword(s):

Epidermolysis Bullosa ◽

Rat Model ◽

Gene Dosage ◽

Dosage Effect ◽

Gene Dosage Effect ◽

Glycine Substitution ◽

Unusual dominant dystrophic epidermolysis bullosa phenotype caused by a novel glycine substitution mutation in the type VII collagen gene (COL7A1)

Journal of Dermatological Science ◽

10.1016/s0923-1811(98)83233-7 ◽

1998 ◽

Vol 16 ◽

pp. S40

Author(s):

M.F. Jonkman ◽

G. Moreno ◽

A.P. Oranie ◽

L. Pulkkinen ◽

J. Uitto

Keyword(s):

Epidermolysis Bullosa ◽

Collagen Gene ◽

Type Vii Collagen ◽

Glycine Substitution ◽

A de novo glycine substitution mutation in the collagenous domain of COL7A1 in dominant dystrophic epidermolysis bullosa

Archives of Dermatological Research ◽

10.1007/s004030050472 ◽

2000 ◽

Vol 292 (4) ◽

pp. 159-163 ◽

Cited By ~ 13

Author(s):

J. Y.-Y. Lee ◽

C. Li ◽

S. -C. Chao ◽

L. Pulkkinen ◽

J. Uitto

Keyword(s):

Epidermolysis Bullosa ◽

De Novo ◽

Glycine Substitution ◽

Collagenous Domain ◽

A recurrent glycine substitution mutation, G2043R, in the type VII collagen gene (COL7A1) in dominant dystrophic epidermolysis bullosa

British Journal of Dermatology ◽

10.1046/j.1365-2133.1998.02496.x ◽

1998 ◽

Vol 139 (4) ◽

pp. 730-737 ◽

Cited By ~ 25

Author(s):

Mellerio ◽

Salas-Alanis ◽

Talamantes ◽

Horn ◽

Tidman ◽

...

Keyword(s):

Epidermolysis Bullosa ◽

Collagen Gene ◽

Type Vii Collagen ◽

Glycine Substitution ◽

A new glycine substitution mutation in the COL7A1 gene in a Chinese family with dominant dystrophic epidermolysis bullosa

Clinical and Experimental Dermatology ◽

10.1046/j.1365-2230.2003.01317.x ◽

2003 ◽

Vol 28 (4) ◽

pp. 437-439 ◽

Cited By ~ 2

Author(s):

X. J. Zhang ◽

Y. X. Song ◽

X. Q. Zhang ◽

S. Yang ◽

M. Li ◽

...

Keyword(s):

Epidermolysis Bullosa ◽

Chinese Family ◽

Glycine Substitution ◽

Col7a1 Gene ◽

Dominant Dystrophic Epidermolysis Bullosa (Pasini) Caused by a Novel Glycine Substitution Mutation in the Type VII Collagen Gene (COL7A1)

Journal of Investigative Dermatology ◽

10.1046/j.1523-1747.1999.00568.x ◽

1999 ◽

Vol 112 (5) ◽

pp. 815-817 ◽

Cited By ~ 14

Author(s):

M.F. Jonkman ◽

G. Moreno ◽

F. Rouan ◽

A.P. Oranje ◽

L. Pulkkinen ◽

...

Keyword(s):

Epidermolysis Bullosa ◽

Collagen Gene ◽

Type Vii Collagen ◽

Glycine Substitution ◽

A novel glycine substitution mutation in theCOL7A1gene in two Scottish families with dominant dystrophic epidermolysis bullosa presenting with milia on the hands and feet

Clinical and Experimental Dermatology ◽

10.1111/ced.12913 ◽

2016 ◽

Vol 41 (8) ◽

pp. 921-922

Author(s):

D. M. Caruana ◽

G. Dawn ◽

C. Jury

Keyword(s):

Epidermolysis Bullosa ◽

Glycine Substitution ◽

Hands And Feet ◽

The G2028R glycine substitution mutation in COL7A1 leads to marked inter-familiar clinical heterogeneity in dominant dystrophic epidermolysis bullosa

Journal of Dermatological Science ◽

10.1016/j.jdermsci.2004.02.005 ◽

2004 ◽

Vol 34 (3) ◽

pp. 195-200 ◽

Cited By ~ 21

Author(s):

Hiroyuki Nakamura ◽

Daisuke Sawamura ◽

Maki Goto ◽

Kazuko C Sato-Matsumura ◽

Jeffrey LaDuca ◽

...

Keyword(s):

Epidermolysis Bullosa ◽

Clinical Heterogeneity ◽

Glycine Substitution ◽

Nanomechanical properties of collagen VII anchoring fibrils in recessive dystrophic epidermolysis bullosa patients

10.26226/morressier.595a9c56d462b80296c9f764 ◽

2017 ◽

Author(s):

Balázs Mayer

Keyword(s):

Epidermolysis Bullosa ◽

Nanomechanical Properties ◽

Recessive Dystrophic Epidermolysis Bullosa ◽

Intracellular Accumulation of Collagen VII in Cultured Keratinocytes from a Patient with Dominant Dystrophic Epidermolysis Bullosa

Journal of Investigative Dermatology ◽

10.1111/1523-1747.ep12371741 ◽

1994 ◽

Vol 102 (1) ◽

pp. 105-110 ◽

Cited By ~ 14

Author(s):

Adrian König ◽

Michael Raghunath ◽

Beat Steinmann ◽

Leena Bruckner-Tuderman

Keyword(s):

Epidermolysis Bullosa ◽

Intracellular Accumulation ◽

Cultured Keratinocytes ◽