A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex (original) (raw)
Epidermolysis bullosa simplex: a keratin 5 mutation is a fully dominant allele in epidermal cytoskeleton function
Ellen Wijsman
PubMed, 1995
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Identification of Novel and Known Mutations in the Genes for Keratin 5 and 14 in Danish Patients with Epidermolysis Bullosa Simplex: Correlation Between Genotype and Phenotype
Lars Bolund
Journal of Investigative Dermatology, 1999
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Partial Revertant Mosaicism of Keratin 14 in a Patient with Recessive Epidermolysis Bullosa Simplex1
Marcel Jonkman
Journal of Investigative Dermatology, 2002
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Keratin 14 Point Mutations at Codon 119 of Helix 1A Resulting in Different Epidermolysis Bullosa Simplex Phenotypes
Dedee Murrell
Journal of Investigative Dermatology, 2001
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Clinical heterogeneity in recessive epidermolysis bullosa due to mutations in the keratin 14 gene, KRT14
John Su
Clinical and Experimental Dermatology, 2008
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A Keratin 14 Mutational Hot Spot for Epidermolysis Bullosa Simplex, Dowling-Meara: Implications for Diagnosis
Anne Spencer
Journal of Investigative Dermatology, 1993
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Mutations in the non-helical linker L12 of keratin 5 in patients with Weber-Cockayne epidermolysis bullosa simplex
Raju Kucherlapati
Journal of Cell Science
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Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations
Marcel Jonkman
Human Mutation, 2003
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University of Groningen Epidermolysis bullosa simplex
Maria Caroline
2010
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K5 D328E: A Novel Missense Mutation in the Linker 12 Domain of Keratin 5 Associated with Epidermolysis bullosa simplex (Weber-Cockayne
Katja Vouk
Human Heredity, 2000
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Expression of a Truncated Keratin 5 May Contribute to Severe Palmar-Plantar Hyperkeratosis in Epidermolysis Bullosa Simplex Patients
Richard Presland
Journal of Investigative Dermatology, 2001
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KRT5 and KRT14 Mutations in Epidermolysis Bullosa Simplex with Phenotypic Heterogeneity, and Evidence of Semidominant Inheritance in a Multiplex Family
Hassan Vahidnezhad
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Linkage of epidermolysis bullosa simplex to keratin gene loci
Kevin Mckenna
Journal of Medical Genetics, 1992
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A Usual Frameshift and Delayed Termination Codon Mutation in Keratin 5 Causes a Novel Type of Epidermolysis Bullosa Simplex with Migratory Circinate Erythema
Yasuo Kitajima
Journal of Investigative Dermatology, 2003
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Epidermolysis bullosa simplex-generalized severe type due to keratin 5 p.Glu477Lys mutation: Genotype-phenotype correlation and in silico modeling analysis
Francis Palisson
Pediatric Dermatology
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Weber-Cockayne Type Epidermolysis Bullosa Simplex Resulting from a Novel Mutation (c. 608T>C) in the Keratin 5 Gene
Hajime Nakano
Annals of dermatology, 2014
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Identification of novel and known KRT5 and KRT14 mutations in 53 patients with epidermolysis bullosa simplex: correlation between genotype and phenotype
Cristina Has
British Journal of Dermatology, 2010
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Mutation Report. Novel keratin 14 gene mutations in patients from Hungary with epidermolysis bullosa simplex
Attila Horváth
Experimental Dermatology, 2004
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Novel keratin 5 and 14 gene mutations in patients with epidermolysis bullosa simplex from Poland
Cezary Kowalewski
Archives of Dermatological Research, 2005
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Novel Keratin 14 Mutations in Patients with Severe Recessive Epidermolysis Bullosa Simplex
Cristina Has
Journal of Investigative Dermatology, 2006
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Primers for Exon-Specific Amplification of the KRT5 Gene: Identification of Novel and Recurrent Mutations in Epidermolysis Bullosa Simplex Patients
Anne Spencer
Journal of Investigative Dermatology, 1997
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Donor splice site mutation in keratin 5 causes in-frame removal of 22 amino acids of H1 and 1A rod domains in Dowling-Meara epidermolysis bullosa simplex
Alain Hovnanian
European Journal of Human Genetics, 1999
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Bullous diseases caused by KRT1 gene mutations: from epidermolytic hyperkeratosis to a novel variant of epidermolysis bullosa simplex
Cezary Kowalewski
Advances in Dermatology and Allergology
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Generation and characterization of epidermolysis bullosa simplex cell lines: scratch assays show faster migration with disruptive keratin mutations
Daniel Hohl
British Journal of Dermatology, 2003
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The Yin and the Yang of Keratin Amino Acid Substitutions and Epidermolysis Bullosa Simplex
Dedee Murrell
Journal of Investigative Dermatology, 2011
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Easy Method for Keratin 14 Gene Amplification to Exclude Pseudogene Sequences: New Keratin 5 and 14 Mutations in Epidermolysis Bullosa Simplex
Zsofia Hatvani
Journal of Investigative Dermatology, 2009
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The genetic basis of epidermolysis bullosa simplex with mottled pigmentation
Pierre Coulombe
Proceedings of the National Academy of Sciences, 1996
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Keratin gene mutations in human skin disease
Howard Stevens
Postgraduate Medical Journal, 1994
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A Novel Deletion Mutation in Keratin 5 Causing the Removal of 5 Amino Acids and Elevated Mutant mRNA Levels in Dowling–Meara Epidermolysis Bullosa Simplex
Sandra Klingberg
Journal of Investigative Dermatology, 2005
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Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex
Надя Гурская
International Journal of Molecular Sciences, 2021
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Molecular Heterogeneity of Blistering Disorders: The Paradigm of Epidermolysis Bullosa
Cristina Has
Journal of Investigative Dermatology, 2012
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