Cargando…

Identification of a novel homozygous LAMB3 mutation in a Chinese male with junctional epidermolysis bullosa and severe urethra stenosis: A case report

Introduction: Epidermolysis bullosa (EB) is a skin fragility disorder that is caused by molecular aberrations in the epidermal basement membrane zone. Based primarily on the cleavage plane within the skin, EB is classified into four major subtypes: EB simplex; junctional EB (JEB); dystrophic EB; and...

Descripción completa

Detalles Bibliográficos
Autores principales:	Wang, Wei, Guo, Qiang, Chen, Jinshan, Zhang, Xi, Li, Chengyong, Li, Shuangping, Liang, Jialin, Hao, Chuan, Wang, Jingqi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9561087/ https://www.ncbi.nlm.nih.gov/pubmed/36246619 http://dx.doi.org/10.3389/fgene.2022.965375

Ejemplares similares

LAMB3 Missense Variant in Australian Shepherd Dogs with Junctional Epidermolysis Bullosa
por: Kiener, Sarah, et al.
Publicado: (2020)

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

A new mouse model of junctional epidermolysis bullosa: the LAMB3 628G>A knockin mouse
por: Hammersen, Johanna, et al.
Publicado: (2014)

Hologene 5: A Phase II/III Clinical Trial of Combined Cell and Gene Therapy of Junctional Epidermolysis Bullosa
por: De Rosa, Laura, et al.
Publicado: (2021)

Complexity of Transcriptional and Translational Interference of Laminin-332 Subunits in Junctional Epidermolysis Bullosa with LAMB3 Mutations
por: HOU, Ping-Chen, et al.
Publicado: (2021)

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

Epidermolysis Bullosa with Hypertrophic Pyloric Stenosis in a Newborn
por: Ben Dhaou, Mahdi, et al.
Publicado: (2015)

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

Digenic Mutations in Junctional Epidermolysis Bullosa in An Iranian Family
por: Riahi, Kourosh, et al.
Publicado: (2021)

Epidermolysis Bullosa With Pyloric Stenosis: A Novel Lethal Variant
por: Ghazzawi, Rahaf A, et al.
Publicado: (2023)

Targeted next-generation sequencing identifies a novel mutation of LAMB3 in a Chinese neonatal patient presented with junctional epidermolysis bullosa
por: Wang, Hairong, et al.
Publicado: (2018)

Integrin alpha 6 homozygous splice-site mutation causes a new form of junctional epidermolysis bullosa in Charolais cattle
por: Boussaha, Mekki, et al.
Publicado: (2023)

Inherited epidermolysis bullosa
por: Fine, Jo-David
Publicado: (2010)

Dystrophic Epidermolysis Bullosa
por: Yadav, Randhir Sagar, et al.
Publicado: (2018)

Epidermolysis bullosa acquisita()
por: Miyamoto, Denise, et al.
Publicado: (2022)

Damaged Keratin Filament Network Caused by KRT5 Mutations in Localized Recessive Epidermolysis Bullosa Simplex
por: Chen, Fuying, et al.
Publicado: (2021)

Genetic Profile of Epidermolysis Bullosa Cases in King Abdulaziz Medical City, Riyadh, Saudi Arabia
por: Alharthi, Raghad, et al.
Publicado: (2022)

Keratinocytes from Induced Pluripotent Stem Cells in Junctional Epidermolysis Bullosa
por: Tolar, Jakub, et al.
Publicado: (2012)

First report of junctional epidermolysis bullosa (JEB) in the Italian draft horse
por: Cappelli, Katia, et al.
Publicado: (2015)

Junctional Epidermolysis Bullosa: Allelic Heterogeneity and Mutation Stratification for Precision Medicine
por: Condrat, Irina, et al.
Publicado: (2019)

Colchicine may assist in reducing granulation tissue in junctional epidermolysis bullosa
por: Kim, Minhee, et al.
Publicado: (2016)

Genetic trend of the junctional epidermolysis bullosa in the German shorthaired pointer in Italy
por: Frattini, Stefano, et al.
Publicado: (2021)

Somatic Correction of Junctional Epidermolysis Bullosa by a Highly Recombinogenic AAV Variant
por: Melo, Sandra P, et al.
Publicado: (2014)

Independent COL17A1 Variants in Cats with Junctional Epidermolysis Bullosa
por: Kiener, Sarah, et al.
Publicado: (2023)

Modified Non-Cultured Cell Spray Induced Epithelization in LAMB3 Mutation Epidermolysis Bullosa
por: Widhiati, Suci, et al.
Publicado: (2022)

Extent of Laminin-5 Assembly and Secretion Effect Junctional Epidermolysis Bullosa Phenotype
por: Matsui, Chihiro, et al.
Publicado: (1998)

The Epidermolysis bullosa house in Salzburg
por: Pohla-Gubo, Gabriela
Publicado: (2010)

Pretibial dystrophic epidermolysis bullosa
por: Callegaro, Elisabeth de Albuquerque Cavalcanti, et al.
Publicado: (2017)

Revertant Mosaicism in Epidermolysis Bullosa
por: Meyer-Mueller, Cameron, et al.
Publicado: (2022)

Familial Epidermolysis Bullosa Pruriginosa
por: Trivedi, Madhvi, et al.
Publicado: (2022)

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

Dystrophic epidermolysis bullosa in a child
por: Eswara, Uma
Publicado: (2012)

A rare case of epidermolysis bullosa
por: Narendra, S. M., et al.
Publicado: (2013)

Dystrophic epidermolysis bullosa: a review
por: Shinkuma, Satoru
Publicado: (2015)

Epidermolysis Bullosa: A Case Report
por: Kothary, B. M.
Publicado: (1938)

The risk of cardiomyopathy in inherited epidermolysis bullosa
por: Fine, J-D, et al.
Publicado: (2008)

Bronchial stenosis secondary to epidermolysis bullosa successfully treated with bronchoscopic balloon dilatation
por: Arya, Rohan, et al.
Publicado: (2015)

A rare case of recessive dystrophic epidermolysis bullosa with aplasia cutis and pyloric stenosis
por: Sawka, Erika, et al.
Publicado: (2020)

Paired nicking-mediated COL17A1 reframing for junctional epidermolysis bullosa
por: Bischof, Johannes, et al.
Publicado: (2022)

A Novel Fluorescence-Based Screen of Gene Editing Molecules for Junctional Epidermolysis Bullosa
por: Zwicklhuber, Janine, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_njn7l6jtqmlh875gdmog7f9m9t