Cargando…

Compound heterozygous mutations in WFS1 cause atypical Wolfram syndrome

Detalles Bibliográficos
Autores principales:	Pan, Yun-Di, Fu, Jun-Ling, Xiao, Xin-Hua
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer Health 2019
Materias:	Correspondence
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6831070/ https://www.ncbi.nlm.nih.gov/pubmed/31567480 http://dx.doi.org/10.1097/CM9.0000000000000464

Ejemplares similares

Unique three-site compound heterozygous mutation in the WFS1 gene in Wolfram syndrome
por: Ren, Ziyu, et al.
Publicado: (2021)

A case of adult-onset Wolfram syndrome with compound heterozygous mutations of the WFS1 gene
por: Lee, Jinhee, et al.
Publicado: (2022)

Familial Wolfram syndrome due to compound heterozygosity for two novel WFS1 mutations
por: Zenteno, Juan Carlos, et al.
Publicado: (2008)

Genomics of Wolfram Syndrome 1 (WFS1)
por: Kõks, Sulev
Publicado: (2023)

Novel mutations in the WFS1 gene are associated with Wolfram syndrome and systemic inflammation
por: Panfili, Eleonora, et al.
Publicado: (2021)

Clinical Characteristics of Wolfram Syndrome in Chinese Population and a Novel Frameshift Mutation in WFS1
por: Duan, Lian, et al.
Publicado: (2018)

Identification of a novel WFS1 homozygous nonsense mutation in Jordanian children with Wolfram syndrome
por: Bodoor, Khaldon, et al.
Publicado: (2016)

Genotype and Clinical Characteristics of Patients with Wolfram Syndrome and WFS1-related Disorders
por: Lee, Evan M., et al.
Publicado: (2023)

Genotype and clinical characteristics of patients with Wolfram syndrome and WFS1-related disorders
por: Lee, Evan M., et al.
Publicado: (2023)

A novel mutation of WFS1 gene in a Chinese patient with Wolfram syndrome: a case report
por: Li, Min, et al.
Publicado: (2018)

Morphological, behavioral and cellular analyses revealed different phenotypes in Wolfram syndrome wfs1a and wfs1b zebrafish mutant lines
por: Crouzier, Lucie, et al.
Publicado: (2022)

Wolfram Syndrome in the Japanese Population; Molecular Analysis of WFS1 Gene and Characterization of Clinical Features
por: Matsunaga, Kimie, et al.
Publicado: (2014)

WFS1 protein expression correlates with clinical progression of optic atrophy in patients with Wolfram syndrome
por: Hu, Kun, et al.
Publicado: (2022)

New unexpected role for Wolfram Syndrome protein WFS1: a novel therapeutic target for Alzheimer’s disease?
por: Chen, Shuo, et al.
Publicado: (2022)

Depletion of WFS1 compromises mitochondrial function in hiPSC-derived neuronal models of Wolfram syndrome
por: Zatyka, Malgorzata, et al.
Publicado: (2023)

Atypical presentations of Wolframs syndrome
por: Saran, S., et al.
Publicado: (2012)

A p.(Glu809Lys) Mutation in the WFS1 Gene Associated with Wolfram-like Syndrome: A Case Report
por: Prochazkova, Dagmar, et al.
Publicado: (2016)

Clinical and Molecular Genetic Analysis in Three Children with Wolfram Syndrome: A Novel WFS1 Mutation (c.2534T>A)
por: Çelmeli, Gamze, et al.
Publicado: (2017)

A mutant wfs1 zebrafish model of Wolfram syndrome manifesting visual dysfunction and developmental delay
por: Cairns, G., et al.
Publicado: (2021)

A homozygous missense mutation of WFS1 gene causes Wolfram's syndrome without hearing loss in an Iranian family (a report of clinical heterogeneity)
por: Torkamandi, Shahram, et al.
Publicado: (2020)

Case report: De novo pathogenic variant in WFS1 causes Wolfram-like syndrome debuting with congenital bilateral deafness
por: Alías, Laura, et al.
Publicado: (2022)

Giant Axonal Neuropathy with Unusual Neuroimagings Caused by Compound Heterozygous Mutations in GAN Gene
por: Cai, Shuang, et al.
Publicado: (2018)

Next generation sequencing identifies a pathogenic mutation of WFS1 gene in a Moroccan family with Wolfram syndrome: a case report
por: Sahli, Maryem, et al.
Publicado: (2023)

Variants of WFS1 identified by whole exome sequencing in a boy with Wolfram syndrome 1: A case report
por: Tang, Yong, et al.
Publicado: (2023)

A novel mutation of WFS1 gene leading to increase ER stress and cell apoptosis is associated an autosomal dominant form of Wolfram syndrome type 1
por: Gong, Yingying, et al.
Publicado: (2021)

Phenotypic heterogeneity of a compound heterozygous SUCLA2 mutation()()()
por: Finsterer, Josef, et al.
Publicado: (2016)

Novel compound heterozygous cadherin 3 mutations in hypotrichosis and juvenile macular dystrophy
por: Ren, Yunqing, et al.
Publicado: (2022)

Leukodystrophy without Ovarian Failure Caused by Compound Heterozygous Alanyl-tRNA Synthetase 2 Mutations
por: Sun, Jian, et al.
Publicado: (2017)

Wfs1- deficient rats develop primary symptoms of Wolfram syndrome: insulin-dependent diabetes, optic nerve atrophy and medullary degeneration
por: Plaas, Mario, et al.
Publicado: (2017)

Severe congenital hemolytic anemia caused by a novel compound heterozygous PKLR gene mutation in a Chinese boy
por: Liu, Peng-Peng, et al.
Publicado: (2019)

EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome
por: Farmer, Amy, et al.
Publicado: (2013)

Congenital central diabetes insipidus and optic atrophy in a Wolfram newborn: is there a role for WFS1 gene in neurodevelopment?
por: Ghirardello, Stefano, et al.
Publicado: (2014)

SOX2 heterozygous mutations cause multiple extraocular phenotypes in boys
por: Wang, Yi, et al.
Publicado: (2022)

Wolfram Syndrome: New Mutations, Different Phenotype
por: Aloi, Concetta, et al.
Publicado: (2012)

Knockdown of wfs1, a fly homolog of Wolfram syndrome 1, in the nervous system increases susceptibility to age- and stress-induced neuronal dysfunction and degeneration in Drosophila
por: Sakakibara, Yasufumi, et al.
Publicado: (2018)

Parkin Pleiotropy: Extremely Atypical Phenotypes in Patients With Compound Heterozygous Mutations
por: Millar Vernetti, Patricio, et al.
Publicado: (2020)

An Atypical Case of Late-Onset Wolfram Syndrome 1 without Diabetes Insipidus
por: Rigoli, Luciana, et al.
Publicado: (2022)

Rare compound heterozygous mutations in gene MSH6 cause constitutive mismatch repair deficiency syndrome
por: Ling, Chao, et al.
Publicado: (2018)

Longitudinal hearing loss in Wolfram syndrome
por: Karzon, Roanne, et al.
Publicado: (2018)

The molecular mechanism of Gaucher disease caused by compound heterozygous mutations in GBA1 gene
por: Liu, Qi, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_98u75n5dnosml8n5p15qb291l0