Kindler epidermolysis bullosa-like skin phenotype and downregulated basement membrane zone gene expression in poikiloderma with neutropenia and a homozygous USB1 mutation-Reference-Cited by-同舟云学术

Kindler epidermolysis bullosa-like skin phenotype and downregulated basement membrane zone gene expression in poikiloderma with neutropenia and a homozygous USB1 mutation

Published:2021-05 Issue: Volume:99 Page:43-57
ISSN:0945-053X
Container-title:Matrix Biology
language:en
Short-container-title:Matrix Biology

Author:

Vahidnezhad Hassan,Youssefian Leila^ORCID,Saeidian Amir Hossein,Boyden Lynn M,Touati Andrew^ORCID,Harvey Nailah,Naji Mahtab^ORCID,Zabihi Masoud^ORCID,Barzegar Mohammadreza,Sotoudeh Soheila,Liu Lu,Guy Alyson^ORCID,Kariminejad Ariana,Zeinali Sirous^ORCID,Choate Keith A,McGrath John A.,Uitto Jouni^ORCID

Publisher

Elsevier BV

Subject

Molecular Biology

Reference30 articles.

1. Identification of a novel C16orf57 mutation in Athabaskan patients with Poikiloderma with Neutropenia;Clericuzio;Am. J. Med. Genet. A,2011

2. Consensus re-classification of inherited epidermolysis bullosa and other disorders with skin fragility;Has;Br. J. Dermatol.,2020

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

4. Epidermolysis bullosa: Molecular pathology of connective tissue components in the cutaneous basement membrane zone;Has;Matrix Biol.,2018

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

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. From clinical findings to the pathomechanism of poikiloderma with neutropenia;British Journal of Haematology;2023-11-06

2. Defective monocyte plasticity and altered cAMP pathway characterize USB1‐mutated poikiloderma with neutropenia Clericuzio type;British Journal of Haematology;2023-10

3. Recalcitrant Cutaneous Warts in a Family with Inherited ICOS Deficiency;Journal of Investigative Dermatology;2022-09

4. Pathomechanisms of epidermolysis bullosa: Beyond structural proteins;Matrix Biology;2022-06