original ) (raw )Molecular Modeling of Pathogenic Mutations in the Keratin 1B Domain
Christopher Bunick
International Journal of Molecular Sciences
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Epidermolysis bullosa simplex: a keratin 5 mutation is a fully dominant allele in epidermal cytoskeleton function
Ellen Wijsman
PubMed, 1995
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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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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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Keratin gene mutations in human skin disease
Howard Stevens
Postgraduate Medical Journal, 1994
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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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The X-Ray Crystal Structure of the Keratin 1-Keratin 10 Helix 2B Heterodimer Reveals Molecular Surface Properties and Biochemical Insights into Human Skin Disease
Christopher Bunick
Journal of Investigative Dermatology
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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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Assays to Study Consequences of Cytoplasmic Intermediate Filament Mutations: The Case of Epidermal Keratins
Надя Гурская
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Keratin gene mutations in disorders of human skin and its appendages
Hasan Mukhtar
Archives of Biochemistry and Biophysics, 2011
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A 'hot-spot' mutation alters the mechanical properties of keratin filament networks
Pierre Coulombe
Nature Cell Biology, 2001
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Keratin Dynamics and Spatial Distribution in Wild-Type and K14 R125P Mutant Cells—A Computational Model
Marcos Gouveia
International Journal of Molecular Sciences, 2020
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Characterization of Molecular Mechanisms Underlying Mutations in Dystrophic Epidermolysis Bullosa Using Site-directed Mutagenesis
Nils Billestrup
Journal of Biological Chemistry, 2008
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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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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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Keratins: a structural scaffold with emerging functions
Jutta Kirfel
Cellular and Molecular Life Sciences (CMLS), 2003
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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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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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A novel mutation in the helix termination motif of keratin K12 in a US family with Meesmann corneal dystrophy
Sadeer Hannush
American Journal of Ophthalmology, 1999
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Update of the keratin gene family: evolution, tissue-specific expression patterns, and relevance to clinical disorders
Christopher Bunick
Human Genomics
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A mutational hot spot in keratin 10 (KRT 10) in patients with epidermolytic hyperkeratosis
Mark Pittelkow
Human Molecular Genetics, 1993
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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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University of Groningen Epidermolysis bullosa simplex
Maria Caroline
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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Molecular modeling and structural characterization of a high glycine-tyrosine hair keratin associated protein
Janhavi Raut
Physical chemistry chemical physics : PCCP, 2017
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The cDNA sequence of a type II cytoskeletal keratin reveals constant and variable structural domains among keratins
Israel Hanukoglu
Cell, 1983
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Evolution of keratin genes: Different protein domains evolve by different pathways
Miroslav Blumenberg
Journal of Molecular Evolution, 1987
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Elucidating the early stages of keratin filament assembly
Pierre Coulombe
The Journal of Cell Biology, 1990
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Exempting Homologous Pseudogene Sequences from Polymerase Chain Reaction Amplification Allows Genomic Keratin 14 Hotspot Mutation Analysis
Marcel Jonkman
Journal of Investigative Dermatology, 2000
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Complete structure of the gene for human keratin 18
Robert Oshima
Genomics, 1989
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Three Severe Cases of EBS Dowling-Meara Caused by Missense and Frameshift Mutations in the Keratin 14 Gene
Matthias Titeux
Journal of Investigative Dermatology, 2006
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Human keratin 1/10‐1B tetramer structures reveal a knob‐pocket mechanism in intermediate filament assembly
Christopher Bunick
The EMBO Journal, 2019
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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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