Varaico: Literature-Extracted Genetic Variants

Gene:KRT14
Variant:p.R125P
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KRT14

NM_000526.5:p.R125P

Associated Papers

Preclinical validation of PKC412 as a therapy candidate for epidermolysis bullosa simplex across multiple keratin pathogenic variants.

Jopp H et al.

The British Journal of Dermatology, 2025

Unlocking the potential: m6A-RNA methylation in severe epidermolysis bullosa simplex.

Balacco DL et al.

Bioscience Reports, 2025

Posttranslational modifications of keratins and their associated proteins as therapeutic targets in keratin diseases.

Li P et al.

Current Opinion in Cell Biology, 2023

Painting and dissecting Epidermolysis Bullosa Simplex-associated keratin aggregates.

Rietscher K et al.

Journal of Dermatological Science, 2023

Human-Induced Pluripotent Stem Cell‒Derived Keratinocytes, a Useful Model to Identify and Explore the Pathological Phenotype of Epidermolysis Bullosa Simplex.

Coutier J et al.

The Journal of Investigative Dermatology, 2022

Detrimental Effects of IFN-γ on an Epidermolysis Bullosa Simplex Cell Model and Protection by a Humanized Anti-IFN-γ Monoclonal Antibody.

Badowski C et al.

Jid Innovations : Skin Science From Molecules to Population Health, 2022

Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex.

Evtushenko NA et al.

International Journal of Molecular Sciences, 2021

A cell-based drug discovery assay identifies inhibition of cell stress responses as a new approach to treatment of epidermolysis bullosa simplex.

Tan TS et al.

Journal of Cell Science, 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

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

Cortical stiffness of keratinocytes measured by lateral indentation with optical tweezers.

Zemljič Jokhadar Š et al.

Plos One, 2020

Epidermolysis bullosa simplex generalized severe induces a T helper 17 response and is improved by apremilast treatment.

Castela E et al.

The British Journal of Dermatology, 2019

Keratin gene mutations influence the keratinocyte response to DNA damage and cytokine induced apoptosis.

Zupancic T et al.

Archives of Dermatological Research, 2017

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

Tan TS et al.

Methods in Enzymology, 2016

Distinct Impact of Two Keratin Mutations Causing Epidermolysis Bullosa Simplex on Keratinocyte Adhesion and Stiffness.

Homberg M et al.

The Journal of Investigative Dermatology, 2015

A Drosophila Model of Epidermolysis Bullosa Simplex.

Bohnekamp J et al.

The Journal of Investigative Dermatology, 2015

Keratins Stabilize Hemidesmosomes through Regulation of β4-Integrin Turnover.

Seltmann K et al.

The Journal of Investigative Dermatology, 2015

The pathogenetic role of IL-1β in severe epidermolysis bullosa simplex.

Wally V et al.

The Journal of Investigative Dermatology, 2013

Imbalance of intermediate filament component keratin 14 contributes to increased stress signalling in epidermolysis bullosa simplex.

Wagner M et al.

Experimental Dermatology, 2013

MMP-9 and CXCL8/IL-8 are potential therapeutic targets in epidermolysis bullosa simplex.

Lettner T et al.

Plos One, 2013

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

The mechanical behavior of mutant K14-R125P keratin bundles and networks in NEB-1 keratinocytes.

Beriault DR et al.

Plos One, 2012

Keratin 14-null cells as a model to test the efficacy of gene therapy approaches in epithelial cells.

D'Alessandro M et al.

The Journal of Investigative Dermatology, 2011

Mutations in KRT5 and KRT14 cause epidermolysis bullosa simplex in 75% of the patients.

Bolling MC et al.

The British Journal of Dermatology, 2011

K14 mRNA reprogramming for dominant epidermolysis bullosa simplex.

Wally V et al.

Human Molecular Genetics, 2010

ERK involvement in resistance to apoptosis in keratinocytes with mutant keratin.

Russell D et al.

The Journal of Investigative Dermatology, 2010

Novel and recurrent mutations in Keratin 5 and 14 in Korean patients with Epidermolysis bullosa simplex.

Kang TW et al.

Journal of Dermatological Science, 2010

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

Mechanical stress induces profound remodelling of keratin filaments and cell junctions in epidermolysis bullosa simplex keratinocytes.

Russell D et al.

Journal of Cell Science, 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

Novel proline substitution mutations in keratin 16 in two cases of pachyonychia congenita type 1.

Smith FJ et al.

The British Journal of Dermatology, 1999

Multiple roles for keratin intermediate filaments in the regulation of epithelial barrier function and apico-basal polarity.

Salas PJ et al.

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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."