Varaico: Literature-Extracted Genetic Variants

Gene:KRT14
Variant:p.R125S
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KRT14

NM_000526.5:p.R125S

Associated Papers

Keratin 15 promotes a progenitor cell state in basal keratinocytes of skin epidermis.

Redmond CJ et al.

Biorxiv : the Preprint Server for Biology, 2025

Mechanisms of RNF168 nucleosome recognition and ubiquitylation.

Hu Q et al.

Molecular Cell, 2024

Krt14 and Krt15 differentially regulate regenerative properties and differentiation potential of airway basal cells.

Ievlev V et al.

Jci Insight, 2023

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

Severe epidermolysis bullosa simplex phenotype caused by codominant mutations p.Ile377Thr in keratin 14 and p.Gly138Glu in keratin 5.

Bchetnia M et al.

Experimental Dermatology, 2020

Next-generation sequencing through multigene panel testing for the diagnosis of hereditary epidermolysis bullosa in Chinese population.

Chen F et al.

Clinical Genetics, 2020

Keratin 14-dependent disulfides regulate epidermal homeostasis and barrier function via 14-3-3σ and YAP1.

Guo Y et al.

Elife, 2020

Keratin Dynamics and Spatial Distribution in Wild-Type and K14 R125P Mutant Cells-A Computational Model.

Gouveia M et al.

International Journal of Molecular Sciences, 2020

Generation of a human induced pluripotent stem cell line (UQACi001-A) from a severe epidermolysis bullosa simplex patient with the heterozygous mutation p.R125S in the KRT14 gene.

Bchetnia M et al.

Stem Cell Research, 2020

Known and novel mutations responsible for epidermolysis bullosa simplex cases in a Chinese population.

Zhang J et al.

Experimental and Therapeutic Medicine, 2019

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 › K17

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Holehouse AS et al.

Plos One, 2015

26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt

Expression signature of epidermolysis bullosa simplex.

Bchetnia M et al.

Human Genetics, 2012

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File006.xls › TypeII-

A mutation in exon 1 of keratin 14 resulting in a Chinese family with epidermolysis bullosa simplex Dowling-Meara.

Li XL et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2007

Modeling effects of mutations in coiled-coil structures: case study using epidermolysis bullosa simplex mutations in segment 1a of K5/K14 intermediate filaments.

Smith TA et al.

Proteins, 2004

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

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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."