Varaico: Literature-Extracted Genetic Variants

Gene:KRT14
Variant:p.V270M
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KRT14

NM_000526.5:p.V270M

Associated Papers

Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex.

Evtushenko NA et al.

International Journal of Molecular Sciences, 2021

A mathematical model for the dependence of keratin aggregate formation on the quantity of mutant keratin expressed in EGFP-K14 R125P keratinocytes.

Gouveia M et al.

Plos One, 2021

Mutational analysis of epidermal and hyperproliferative type I keratins in mild and moderate psoriasis vulgaris patients: a possible role in the pathogenesis of psoriasis along with disease severity.

Elango T et al.

Human Genomics, 2018

29784039 (PubMed )
Supplement: 40246_2018_158_MOESM2_ESM.xlsx › K10

Desmoplakin interacts with the coil 1 of different types of intermediate filament proteins and displays high affinity for assembled intermediate filaments.

Favre B et al.

Plos One, 2018

Assays to Study Consequences of Cytoplasmic Intermediate Filament Mutations: The Case of Epidermal Keratins.

Tan TS et al.

Methods in Enzymology, 2016

Gene expression analysis of an epidermolysis bullosa simplex Dowling-Meara cell line by subtractive hybridization: recapitulation of cellular differentiation, migration and wound healing.

Wagner M et al.

Experimental Dermatology, 2012

Severe keratin 5 and 14 mutations induce down-regulation of junction proteins in keratinocytes.

Liovic M et al.

Experimental Cell Research, 2009

Dual-specificity phosphatases in the hypo-osmotic stress response of keratin-defective epithelial cell lines.

Liovic M et al.

Experimental Cell Research, 2008

Epidermolysis bullosa simplex in Scotland caused by a spectrum of keratin mutations.

Rugg EL et al.

The Journal of Investigative Dermatology, 2007

Novel mutation (Asp158Val) in H1 domain of keratin 5 gene in a Japanese patient with Köbner-type epidermolysis bullosa simplex.

Saeki H et al.

The Journal of Dermatology, 2006

Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases.

Yasukawa K et al.

The British Journal of Dermatology, 2006

An autocrine/paracrine loop linking keratin 14 aggregates to tumor necrosis factor alpha-mediated cytotoxicity in a keratinocyte model of epidermolysis bullosa simplex.

Yoneda K et al.

The Journal of Biological Chemistry, 2004

Generation and characterization of epidermolysis bullosa simplex cell lines: scratch assays show faster migration with disruptive keratin mutations.

Morley SM et al.

The British Journal of Dermatology, 2003

Keratin mutations of epidermolysis bullosa simplex alter the kinetics of stress response to osmotic shock.

D'Alessandro M et al.

Journal of Cell Science, 2002

Epidermolysis bullosa simplex Dowling-Meara due to an arginine to cysteine substitution in exon 1 of keratin 14.

Premaratne C et al.

The Australasian Journal of Dermatology, 2002

Effect of mutation and phosphorylation of type I keratins on their caspase-mediated degradation.

Ku NO et al.

The Journal of Biological Chemistry, 2001

Supplementation of a mutant keratin by stable expression of desmin in cultured human EBS keratinocytes.

Magin TM et al.

Journal of Cell Science, 2000

[Keratin diseases].

Jensen PK et al.

Ugeskrift for Laeger, 2000

[Epidermolysis bullosa simplex: genotype-phenotype correlation in Danish patients].

Sørensen CB et al.

Ugeskrift for Laeger, 2000

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.

Sørensen CB et al.

The Journal of Investigative Dermatology, 1999

An atypical form of bullous congenital ichthyosiform erythroderma is caused by a mutation in the L12 linker region of keratin 1.

Kremer H et al.

The Journal of Investigative Dermatology, 1998

Novel K5 and K14 mutations in German patients with the Weber-Cockayne variant of epidermolysis bullosa simplex.

Müller FB et al.

The Journal of Investigative Dermatology, 1998

Human keratin diseases: hereditary fragility of specific epithelial tissues.

Corden LD et al.

Experimental Dermatology, 1996

Temperature sensitivity of the keratin cytoskeleton and delayed spreading of keratinocyte lines derived from EBS patients.

Morley SM et al.

Journal of Cell Science, 1995

Intermediate filaments in disease.

McLean WH et al.

Current Opinion in Cell Biology, 1995

Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function.

Rugg EL et al.

Nature Genetics, 1993

K5 D328E: a novel missense mutation in the linker 12 domain of keratin 5 associated with epidermolysis bullosa simplex (Weber-Cockayne).

Liovic M et al.

Human Heredity, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."