Single glycine deletion in COL7A1 acting as glycine substitution in dystrophic epidermolysis bullosa

Compound Heterozygosity for a Recessive Glycine Substitution and a Splice Site Mutation in the COL7A1 Gene Causes an Unusually Mild Form of Localized Recessive Dystrophic Epidermolysis Bullosa

Journal of Investigative Dermatology ◽

10.1046/j.1523-1747.1998.00397.x ◽

1998 ◽

Vol 111 (5) ◽

pp. 744-750 ◽

Cited By ~ 30

Author(s):

Michela Terracina ◽

Patrizia Posteraro ◽

Giovanna Zambruno ◽

Daniele Castiglia ◽

Margit Schubert ◽

...

Keyword(s):

Splice Site ◽

Epidermolysis Bullosa ◽

Splice Site Mutation ◽

Compound Heterozygosity ◽

Mild Form ◽

Site Mutation ◽

Dystrophic Epidermolysis Bullosa ◽

Recessive Dystrophic Epidermolysis Bullosa ◽

Glycine Substitution ◽

Col7a1 Gene

Glycine Substitution Mutations in the Type VII Collagen Gene (COL7A1) in Dystrophic Epidermolysis Bullosa: Implications for Genetic Counseling

Journal of Investigative Dermatology ◽

10.1111/1523-1747.ep12335324 ◽

1997 ◽

Vol 108 (2) ◽

pp. 224-228 ◽

Cited By ~ 37

Author(s):

Atsushi Kon ◽

John A. McGrath ◽

Leena Pulkkinen ◽

Kazuo Nomura ◽

Takehiko Nakamura ◽

...

Keyword(s):

Genetic Counseling ◽

Epidermolysis Bullosa ◽

Collagen Gene ◽

Dystrophic Epidermolysis Bullosa ◽

Type Vii Collagen ◽

Glycine Substitution ◽

Substitution Mutations

Identification of a glycine substitution and a splice site mutation in the type VII collagen gene in a proband with mitis recessive dystrophic epidermolysis bullosa

Archives of Dermatological Research ◽

10.1007/s004030050253 ◽

1997 ◽

Vol 289 (11) ◽

pp. 640-645 ◽

Cited By ~ 11

Author(s):

Peter B. Cserhalmi-Friedman ◽

Sarolta Karpati ◽

Attila Horvath ◽

A. M. Christiano

Keyword(s):

Splice Site ◽

Epidermolysis Bullosa ◽

Splice Site Mutation ◽

Collagen Gene ◽

Site Mutation ◽

Dystrophic Epidermolysis Bullosa ◽

Type Vii Collagen ◽

Recessive Dystrophic Epidermolysis Bullosa ◽

Glycine Substitution

Novel Glycine Substitution Mutations in COL7A1 Reveal that the Pasini and Cockayne–Touraine Variants of Dominant Dystrophic Epidermolysis Bullosa Are Allelic

Journal of Investigative Dermatology ◽

10.1111/1523-1747.ep12338093 ◽

1997 ◽

Vol 109 (5) ◽

pp. 684-687 ◽

Cited By ~ 41

Author(s):

Atsushi Kon ◽

Kazuo Nomura ◽

Leena Pulkkinen ◽

Daisuke Sawamura ◽

Isao Hashimoto ◽

...

Keyword(s):

Epidermolysis Bullosa ◽

Dystrophic Epidermolysis Bullosa ◽

Glycine Substitution ◽

Substitution Mutations

A Japanese family with dominant pretibial dystrophic epidermolysis bullosa: Identification of a new glycine substitution in the triple-helical collagenous domain of type VII collagen

Journal of Dermatological Science ◽

10.1016/j.jdermsci.2009.02.003 ◽

2009 ◽

Vol 54 (3) ◽

pp. 212-214 ◽

Cited By ~ 6

Author(s):

Takahiro Hamada ◽

Shunpei Fukuda ◽

Norito Ishii ◽

Toshifumi Abe ◽

Keiji Nagata ◽

...

Keyword(s):

Epidermolysis Bullosa ◽

Japanese Family ◽

Dystrophic Epidermolysis Bullosa ◽

Type Vii Collagen ◽

Glycine Substitution ◽

Collagenous Domain

Novel andDe Novo Glycine Substitution Mutations in the Type VII Collagen Gene (COL7A1) in Dystrophic Epidermolysis Bullosa: Implications for Genetic Counseling

Journal of Investigative Dermatology ◽

10.1046/j.1523-1747.1998.00422.x ◽

1998 ◽

Vol 111 (6) ◽

pp. 1210-1213 ◽

Cited By ~ 30

Author(s):

Fatima Rouan ◽

Leena Pulkkinen ◽

Jouni Uitto ◽

Marcel F. Jonkman ◽

Johann W. Bauer ◽

...

Keyword(s):

Genetic Counseling ◽

Epidermolysis Bullosa ◽

Collagen Gene ◽

Dystrophic Epidermolysis Bullosa ◽

Type Vii Collagen ◽

Glycine Substitution ◽

Substitution Mutations

Glycine substitution mutations by different amino acids in the same codon of COL7A1 lead to heterogeneous clinical phenotypes of dominant dystrophic epidermolysis bullosa

Archives of Dermatological Research ◽

10.1007/s004030000162 ◽

2000 ◽

Vol 292 (10) ◽

pp. 477-481 ◽

Cited By ~ 22

Author(s):

T. Murata ◽

T. Masunaga ◽

H. Shimizu ◽

Y. Takizawa ◽

A Ishiko ◽

...

Keyword(s):

Amino Acids ◽

Epidermolysis Bullosa ◽

Dystrophic Epidermolysis Bullosa ◽

Clinical Phenotypes ◽

Glycine Substitution ◽

Substitution Mutations

Glycine substitution mutations by different amino acids at the same codon in COL7A1 cause different modes of dystrophic epidermolysis bullosa inheritance

British Journal of Dermatology ◽

10.1111/j.1365-2133.2006.07388.x ◽

2006 ◽

Vol 155 (4) ◽

pp. 834-837 ◽

Cited By ~ 6

Author(s):

D. Sawamura ◽

Y. Mochitomi ◽

T. Kanzaki ◽

H. Nakamura ◽

H. Shimizu

Keyword(s):

Amino Acids ◽

Epidermolysis Bullosa ◽

Dystrophic Epidermolysis Bullosa ◽

Glycine Substitution ◽

Substitution Mutations

Compound Heterozygosity for Silent and Dominant Glycine Substitution Mutations in COL7A1 Leads to a Marked Transient Intracytoplasmic Retention of Procollagen VII and a Moderately Severe Dystrophic Epidermolysis Bullosa Phenotype

Journal of Investigative Dermatology ◽

10.1046/j.1523-1747.1999.00713.x ◽

1999 ◽

Vol 113 (3) ◽

pp. 419-421 ◽

Cited By ~ 32

Author(s):

Hiroshi Shimizu ◽

Takeji Nishikawa ◽

Nadja Hammami-Hauasli ◽

Naohito Hatta ◽

Leena Bruckner-Tuderman

Keyword(s):

Epidermolysis Bullosa ◽

Compound Heterozygosity ◽

Dystrophic Epidermolysis Bullosa ◽

Glycine Substitution ◽

Substitution Mutations

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 ◽

Dystrophic Epidermolysis Bullosa ◽

Glycine Substitution ◽

Collagen Vii