Modeling effects of mutations in coiled-coil structures: Case study using epidermolysis bullosa simplex mutations in segment 1a of k5/k14 intermediate filaments

Thomasin A. Smith; Peter M. Steinert; David A.D. Parry

doi:10.1002/prot.20089

Modeling effects of mutations in coiled-coil structures: Case study using epidermolysis bullosa simplex mutations in segment 1a of k5/k14 intermediate filaments

Proteins Structure Function and Bioinformatics ◽

10.1002/prot.20089 ◽

2004 ◽

Vol 55 (4) ◽

pp. 1043-1052 ◽

Cited By ~ 27

Author(s):

Thomasin A. Smith ◽

Peter M. Steinert ◽

David A.D. Parry

Keyword(s):

Intermediate Filaments ◽

Epidermolysis Bullosa ◽

Coiled Coil ◽

Epidermolysis Bullosa Simplex

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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 ◽

Epidermolysis Bullosa Simplex ◽

Coiled Coil Domain ◽

Gene Coding ◽

Homozygous Nonsense Mutation

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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 ◽

Epidermolysis Bullosa Simplex ◽

Coiled Coil Domain ◽

Gene Coding ◽

Homozygous Nonsense Mutation

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Abnormal organization of keratin intermediate filaments in cultured keratinocytes of epidermolysis bullosa simplex

Archives of Dermatological Research ◽

10.1007/bf00424265 ◽

1989 ◽

Vol 281 (1) ◽

pp. 5-10 ◽

Cited By ~ 49

Author(s):

Y. Kitajima ◽

S. Inoue ◽

H. Yaoita

Keyword(s):

Intermediate Filaments ◽

Epidermolysis Bullosa ◽

Epidermolysis Bullosa Simplex ◽

Cultured Keratinocytes ◽

Keratin Intermediate Filaments

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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 ◽

Epidermolysis Bullosa Simplex ◽

Coiled Coil Domain ◽

Gene Coding ◽

Homozygous Nonsense Mutation

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Treatment of Epidermolysis Bullosa Simplex (EBS) With Tetracycline

Archives of Dermatology ◽

10.1001/archderm.136.3.424-a ◽

2000 ◽

Vol 136 (3) ◽

pp. 424-a-425 ◽

Cited By ~ 11

Author(s):

N. K. Veien

Keyword(s):

Epidermolysis Bullosa ◽

Epidermolysis Bullosa Simplex

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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

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Faculty Opinions recommendation of Epidermolysis Bullosa Simplex Caused by Distal Truncation of BPAG1-e: An Intermediate Generalized Phenotype with Prurigo Papules.

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

10.3410/f.727704413.793543195 ◽

2018 ◽

Author(s):

Cristina Has

Keyword(s):

Epidermolysis Bullosa ◽

Epidermolysis Bullosa Simplex

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Faculty Opinions recommendation of Mutations in KLHL24 add to the molecular heterogeneity of epidermolysis bullosa simplex.

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

10.3410/f.732760675.793543198 ◽

2018 ◽

Author(s):

Cristina Has

Keyword(s):

Epidermolysis Bullosa ◽

Molecular Heterogeneity ◽

Epidermolysis Bullosa Simplex

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Faculty Opinions recommendation of Plectin mutations underlie epidermolysis bullosa simplex in 8% of patients.

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

10.3410/f.732760658.793543192 ◽

2018 ◽

Author(s):

Cristina Has

Keyword(s):

Epidermolysis Bullosa ◽

Epidermolysis Bullosa Simplex

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Junctional Epidermolysis Bullosa with Pyloric Stenosis Presenting with Electron Microscopic Findings Suggestive of Epidermolysis Bullosa Simplex

Pediatric Dermatology ◽

10.1046/j.1525-1470.2000.017005395.x ◽

2000 ◽

Vol 17 (5) ◽

pp. 395-398 ◽

Cited By ~ 6

Author(s):

Norman Wasel ◽

Halliday Idikio ◽

Gordon Lees ◽

Alfons Krol ◽

Andrew N. Lin

Keyword(s):

Pyloric Stenosis ◽

Epidermolysis Bullosa ◽

Epidermolysis Bullosa Simplex ◽

Electron Microscopic ◽

Junctional Epidermolysis Bullosa ◽

Microscopic Findings

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