Biallelic KRT5 mutations in autosomal recessive epidermolysis bullosa simplex, including a complete human keratin 5 “knock-out”-Reference-Cited by-同舟云学术

Biallelic KRT5 mutations in autosomal recessive epidermolysis bullosa simplex, including a complete human keratin 5 “knock-out”

Published:2019-10 Issue: Volume:83 Page:48-59
ISSN:0945-053X
Container-title:Matrix Biology
language:en
Short-container-title:Matrix Biology

Author:

Vahidnezhad Hassan,Youssefian Leila,Daneshpazhooh Maryam,Mahmoudi Hamidreza,Kariminejad Ariana,Fischer Judith,Christiansen Julie,Schneider Holm,Guy Alyson,Liu Lu,McGrath John A.,Has Cristina,Uitto Jouni

Funder

DEBRA

Publisher

Elsevier BV

Subject

Molecular Biology

Reference35 articles.

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3. Phenotypic spectrum of epidermolysis bullosa, the paradigm of syndromic versus non-syndromic skin fragility disorders;Vahidnezhad;J. Invest. Dermatol.,2019

4. Molecular pathology of the basement membrane zone in heritable blistering diseases: the paradigm of epidermolysis bullosa;Uitto;Matrix Biol.,2017

5. Mutations in PLOD3, encoding lysyl hydroxylase 3, cause syndromic recessive dystrophic epidermolyis bullosa-like phenotype with abnormal anchoring fibrils and deficiency in type VII collagen;Vahidnezhad;Matrix Biol.,2019

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2. Investigation of Genetic Mutations in the Exon-intron Regions of the COL7A1 Gene in five Family Case Reports with Epidermolysis Bullosa in Khuzestan Province;Gene, Cell and Tissue;2023-02-01

3. Kinase Inhibition by PKC412 Prevents Epithelial Sheet Damage in Autosomal Dominant Epidermolysis Bullosa Simplex through Keratin and Cell Contact Stabilization;Journal of Investigative Dermatology;2022-12

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