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

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 ◽

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 ◽

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.2250956.2302062 ◽

2010 ◽

Author(s):

Johann Bauer

Keyword(s):

Epidermolysis Bullosa ◽

Nonsense Mutation ◽

Autosomal Recessive ◽

Coiled Coil ◽

Coiled Coil Domain ◽

Gene Coding ◽

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 ◽

A Compound Heterozygous One Amino-Acid Insertion/Nonsense Mutation in the Plectin Gene Causes Epidermolysis Bullosa Simplex with Plectin Deficiency

American Journal Of Pathology ◽

10.1016/s0002-9440(10)64003-5 ◽

2001 ◽

Vol 158 (2) ◽

pp. 617-625 ◽

Cited By ~ 35

Author(s):

Johann W. Bauer ◽

Fatima Rouan ◽

Barbara Kofler ◽

Günther A. Rezniczek ◽

Iris Kornacker ◽

...

Keyword(s):

Amino Acid ◽

Epidermolysis Bullosa ◽

Nonsense Mutation ◽

Compound Heterozygous ◽

Amino Acid Insertion

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

Amino acid charge and epidermolysis bullosa simplex severity: genotype‐phenotype correlations

Journal of the European Academy of Dermatology and Venereology ◽

10.1111/jdv.15990 ◽

2019 ◽

Vol 34 (2) ◽

Author(s):

O. Ansai ◽

S. Shinkuma ◽

Y. Kabata ◽

T. Katsumi ◽

R. Hagiwara ◽

...

Keyword(s):

Amino Acid ◽

Epidermolysis Bullosa ◽

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

A Homozygous Nonsense Mutation in the β3 Chain Gene of Laminin 5 (LAMB3) in Herlitz Junctional Epidermolysis Bullosa

Genomics ◽

10.1006/geno.1994.1627 ◽

1994 ◽

Vol 24 (2) ◽

pp. 357-360 ◽

Cited By ~ 161

Author(s):

Leena Pulkkinen ◽

Angela M. Christiano ◽

Donald Gerecke ◽

D.Wolfe Wagman ◽

Robert E. Burgeson ◽

...

Keyword(s):

Epidermolysis Bullosa ◽

Nonsense Mutation ◽

Chain Gene ◽

Junctional Epidermolysis Bullosa ◽

Laminin 5 ◽