Faculty Opinions recommendation of 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.

Coiled Coil Domain ◽

Gene Coding ◽

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

Journal of Investigative Dermatology ◽

10.1038/jid.2010.19 ◽

2010 ◽

Vol 130 (6) ◽

pp. 1551-1557 ◽

Cited By ~ 97

Author(s):

Richard W. Groves ◽

Lu Liu ◽

Patricia J. Dopping-Hepenstal ◽

Hugh S. Markus ◽

Patricia A. Lovell ◽

...

Keyword(s):

Epidermolysis Bullosa ◽

Nonsense Mutation ◽

Autosomal Recessive ◽

Coiled Coil ◽

Coiled Coil Domain ◽

Gene Coding ◽

Faculty Opinions recommendation of 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.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.2250956.1867054 ◽

2010 ◽

Author(s):

Dedee Murrell ◽

Heather Cohn

Keyword(s):

Epidermolysis Bullosa ◽

Nonsense Mutation ◽

Autosomal Recessive ◽

Coiled Coil ◽

Coiled Coil Domain ◽

Gene Coding ◽

Homozygous Nonsense Mutation and Additional Deletion of an Amino Acid in BPAG1e Causing Mild Localized Epidermolysis Bullosa Simplex

Acta Dermato Venereologica ◽

10.2340/00015555-2618 ◽

2017 ◽

Vol 97 (5) ◽

pp. 657-659 ◽

Cited By ~ 5

Author(s):

Y He ◽

J Leppert ◽

H Steinke ◽

C Has

Keyword(s):

Amino Acid ◽

Epidermolysis Bullosa ◽

Nonsense Mutation ◽

A homozygous nonsense mutation in the PLEC1 gene in patients with epidermolysis bullosa simplex with muscular dystrophy.

Journal of Clinical Investigation ◽

10.1172/jci119028 ◽

1996 ◽

Vol 98 (10) ◽

pp. 2196-2200 ◽

Cited By ~ 68

Author(s):

S Chavanas ◽

L Pulkkinen ◽

Y Gache ◽

F J Smith ◽

W H McLean ◽

...

Keyword(s):

Muscular Dystrophy ◽

Epidermolysis Bullosa ◽

Nonsense Mutation ◽

Homozygous nonsense mutation in helix 2 of K14 causes severe recessive epidermolysis bullosa simplex

Human Mutation ◽

10.1002/(sici)1098-1004(1998)11:4<279::aid-humu5>3.0.co;2-e ◽

1998 ◽

Vol 11 (4) ◽

pp. 279-285 ◽

Cited By ~ 34

Author(s):

Laura D. Corden ◽

Jemima E. Mellerio ◽

Matthew J. Gratian ◽

Robin A. J. Eady ◽

John I. Harper ◽

...

Keyword(s):

Epidermolysis Bullosa ◽

Nonsense Mutation ◽

Faculty Opinions recommendation of Founder mutation in dystonin-e underlying autosomal recessive epidermolysis bullosa simplex in Kuwait.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.718506474.793543194 ◽

2018 ◽

Author(s):

Cristina Has

Keyword(s):

Epidermolysis Bullosa ◽

Autosomal Recessive ◽

Founder Mutation ◽

Epidermolysis Bullosa Simplex

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

Journal of Investigative Dermatology ◽

10.1046/j.1523-1747.2001.00229.x ◽

2001 ◽

Vol 116 (1) ◽

pp. 182-187 ◽

Cited By ~ 27

Author(s):

Laura Ruzzi ◽

Patrizia Posteraro ◽

Giovanna Zambruno ◽

Daniele Castiglia ◽

Marina D'Alessio ◽

...

Keyword(s):

Epidermolysis Bullosa ◽

Nonsense Mutation ◽

Collagen Gene ◽

Mild Form ◽

Junctional Epidermolysis Bullosa ◽

Alternatively Spliced ◽

Homozygous Nonsense Mutation ◽

Xvii Collagen

Autosomal recessive epidermolysis bullosa simplex: report of three cases from India

Clinical and Experimental Dermatology ◽

10.1111/ced.13182 ◽

2017 ◽

Vol 42 (7) ◽

pp. 800-803 ◽

Cited By ~ 1

Author(s):

V. K. Yenamandra ◽

K. V. Shamsudheen ◽

R. C. Madhumita ◽

J. Rijith ◽

V. Ankit ◽

...

Keyword(s):

Epidermolysis Bullosa ◽

Autosomal Recessive ◽

Epidermolysis Bullosa Simplex

A Novel Nonsense Mutation at E106 of the 2B Rod Domain of Keratin 14 Causes Dominant Epidermolysis Bullosa Simplex

The Journal of Dermatology ◽

10.1111/j.1346-8138.2002.tb00236.x ◽

2002 ◽

Vol 29 (3) ◽

pp. 136-145 ◽

Cited By ~ 13

Author(s):

Li-Hong Gu ◽

Yoshiro Ichiki ◽

Miki Sato ◽

Yasuo Kitajima

Keyword(s):

Epidermolysis Bullosa ◽

Nonsense Mutation ◽

Keratin 14

Autosomal recessive epidermolysis bullosa simplex. Generalized phenotypic features suggestive of junctional or dystrophic epidermolysis bullosa, and association with neuromuscular diseases

Archives of Dermatology ◽

10.1001/archderm.125.7.931 ◽

1989 ◽

Vol 125 (7) ◽

pp. 931-938 ◽

Cited By ~ 20

Author(s):

J. D. Fine

Keyword(s):

Epidermolysis Bullosa ◽

Autosomal Recessive ◽

Neuromuscular Diseases ◽

Dystrophic Epidermolysis Bullosa ◽

Phenotypic Features