Cargando…

Damaged Keratin Filament Network Caused by KRT5 Mutations in Localized Recessive Epidermolysis Bullosa Simplex

Epidermolysis bullosa simplex (EBS) is a blistering dermatosis that is mostly caused by dominant mutations in KRT5 and KRT14. In this study, we investigated one patient with localized recessive EBS caused by novel homozygous c.1474T > C mutations in KRT5. Biochemical experiments showed a mutation...

Descripción completa

Detalles Bibliográficos
Autores principales:	Chen, Fuying, Yao, Lei, Zhang, Xue, Gu, Yan, Yu, Hong, Yao, Zhirong, Zhang, Jia, Li, Ming
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2021
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8667171/ https://www.ncbi.nlm.nih.gov/pubmed/34912369 http://dx.doi.org/10.3389/fgene.2021.736610

Ejemplares similares

Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex
por: Evtushenko, Nadezhda A., et al.
Publicado: (2021)

A novel KRT5 mutation associated with generalized severe epidermolysis bullosa simplex in a 2-year-old Chinese boy
por: Zhang, Jia, et al.
Publicado: (2016)

A homozygous frameshift variant in the KRT5 gene is compatible with life and results in severe recessive epidermolysis bullosa simplex
por: Tryon, Rebecca K., et al.
Publicado: (2019)

A Novel Mutation p.L461P in KRT5 Causing Localized Epidermolysis Bullosa Simplex
por: Jiang, Xin, et al.
Publicado: (2021)

KRT5 missense variant in a Cardigan Welsh Corgi with epidermolysis bullosa simplex
por: Kiener, Sarah, et al.
Publicado: (2022)

A Sporadic Neonatal Case of Epidermolysis Bullosa Simplex Generalized Intermediate with KRT5 and KRT14 Gene Mutations
por: Wakiguchi, Hiroyuki, et al.
Publicado: (2016)

Novel sporadic and recurrent mutations in KRT5 and KRT14 genes in Polish epidermolysis bullosa simplex patients: further insights into epidemiology and genotype–phenotype correlation
por: Wertheim-Tysarowska, K., et al.
Publicado: (2015)

A de novo mutation in KRT5 in a crossbred calf with epidermolysis bullosa simplex
por: Jacinto, Joana G. P., et al.
Publicado: (2020)

A Familial Form of Epidermolysis Bullosa Simplex Associated with a Pathogenic Variant in KRT5
por: Paduano, Francesco, et al.
Publicado: (2021)

Analysis of KRT5 and KRT14 gene mutations and mode of inheritance in Iranian patients with clinical suspicion of Epidermolysis bullosa simplex
por: Khani, Pouria, et al.
Publicado: (2020)

Severe Generalized Epidermolysis Bullosa Simplex in Two Hong Kong Children due to De Novo Variants in KRT14 and KRT5
por: Chong, Shuk Ching, et al.
Publicado: (2020)

Defining keratin protein function in skin epithelia: Epidermolysis Bullosa Simplex and its aftermath
por: Coulombe1, Pierre A., et al.
Publicado: (2012)

Known and novel mutations responsible for epidermolysis bullosa simplex cases in a Chinese population
por: Zhang, Jia, et al.
Publicado: (2019)

Dystonin modifiers of junctional epidermolysis bullosa and models of epidermolysis bullosa simplex without dystonia musculorum
por: Sproule, Thomas J., et al.
Publicado: (2023)

A function for keratins and a common thread among different types of epidermolysis bullosa simplex diseases
Publicado: (1991)

Bullous diseases caused by KRT1 gene mutations: from epidermolytic hyperkeratosis to a novel variant of epidermolysis bullosa simplex
por: Osipowicz, Katarzyna, et al.
Publicado: (2020)

A Drosophila model of Epidermolysis Bullosa Simplex
por: Bohnekamp, Jens, et al.
Publicado: (2015)

Laryngeal stenosis associated with epidermolysis bullosa simplex
por: Devergne, Cécile, et al.
Publicado: (2020)

Case Report: Uncommon Association of ITGB4 and KRT10 Gene Mutation in a Case of Epidermolysis Bullosa With Pyloric Atresia and Aplasia Cutis Congenita
por: Matyas, Melinda, et al.
Publicado: (2021)

Case Report: De novo KLHL24 Gene Pathogenic Variants in Chinese Twin Boys With Epidermolysis Bullosa Simplex
por: Xu, Xiaojing, et al.
Publicado: (2021)

Pain and quality of life evaluation in patients with localized epidermolysis bullosa simplex
por: Brun, Jennifer, et al.
Publicado: (2017)

Plectin Missense Mutation p.Leu319Pro in the Pathogenesis of Autosomal Recessive Epidermolysis Bullosa Simplex
por: TU, Wei-Ting, et al.
Publicado: (2020)

Oral Manifestations and Dental Management of Epidermolysis Bullosa Simplex
por: Scheidt, Lisa, et al.
Publicado: (2015)

Sporadic form of epidermolysis bullosa simplex with mottled pigmentation()()
por: Ferreira, Flávia Regina, et al.
Publicado: (2020)

Dystrophic Epidermolysis Bullosa: Secondary Disease Mechanisms and Disease Modifiers
por: Nyström, Alexander, et al.
Publicado: (2021)

Quality of Life and Economic Burden in Recessive Dystrophic Epidermolysis Bullosa
por: Jeon, In Kyung, et al.
Publicado: (2016)

Peripheral neuro-immune pathology in recessive dystrophic epidermolysis bullosa
por: Mack, Madison, et al.
Publicado: (2014)

Deconstructing progressive inflammatory fibrosis in recessive dystrophic epidermolysis bullosa
por: Ebens, Christen L
Publicado: (2021)

A Case of Recessive Dystrophic Epidermolysis Bullosa Associated Colitis
por: McCann, Katelyn, et al.
Publicado: (2023)

Management of epidermolysis bullosa simplex in pregnancy: A case report
por: Shah, Nidhi, et al.
Publicado: (2019)

Epidermolysis bullosa simplex clearance after nasopharyngeal carcinoma treatment
por: AlKhawajah, Nour Marwan, et al.
Publicado: (2021)

Treatment of keratinocytes with 4-phenylbutyrate in epidermolysis bullosa: Lessons for therapies in keratin disorders
por: Spörrer, Marina, et al.
Publicado: (2019)

Novel biallelic variants in COL7A1 cause recessive dystrophic epidermolysis bullosa
por: Yang, Neng, et al.
Publicado: (2020)

Expanding the spectrum of epidermolysis bullosa simplex: Syndromic epidermolysis bullosa simplex with nephropathy and epilepsy secondary to CD151 tetraspanin defect—a case report and review of the literature
por: Dunn, Charles, et al.
Publicado: (2022)

Weber-Cockayne Type Epidermolysis Bullosa Simplex Resulting from a Novel Mutation (c. 608T>C) in the Keratin 5 Gene
por: Cho, Jae-We, et al.
Publicado: (2014)

Photodynamic Therapy for Basal Cell Carcinoma in Recessive Dystrophic Epidermolysis Bullosa
por: Lee, Myn Wee, et al.
Publicado: (2011)

Recessive dystrophic epidermolysis bullosa (RDEB) complicated by secondary hepatic amyloidosis
por: Chaptini, Cassandra, et al.
Publicado: (2015)

Retrospective longitudinal study of osteoporosis in adults with recessive dystrophic epidermolysis bullosa
por: Hubbard, Lynne D., et al.
Publicado: (2018)

Recessive dystrophic epidermolysis bullosa results in painful small fibre neuropathy
por: von Bischhoffshausen, Sofia, et al.
Publicado: (2017)

An Inducible Mouse Model for Epidermolysis Bullosa Simplex: Implications for Gene Therapy
por: Cao, Tongyu, et al.
Publicado: (2001)

Cannot write session to /tmp/vufind_sessions/sess_001ib2o4tkugu0q5siafnqf2c9