Cargando…

A Novel Cysteine-Sparing NOTCH3 Mutation in a Chinese Family with CADASIL

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an adult onset cerebral small vessel disorder caused by the mutations of the neurogenic locus notch homolog protein 3 (NOTCH3) gene. The extracellular part of NOTCH3 is composed of 34 epidermal gr...

Descripción completa

Detalles Bibliográficos
Autores principales:	Ge, Wei, Kuang, Hanzhe, Wei, Bin, Bo, Le, Xu, Zhice, Xu, Xingshun, Geng, Deqin, Sun, Miao
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2014
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4123979/ https://www.ncbi.nlm.nih.gov/pubmed/25098330 http://dx.doi.org/10.1371/journal.pone.0104533

Ejemplares similares

Systematic Review of Cysteine-Sparing NOTCH3 Missense Mutations in Patients with Clinical Suspicion of CADASIL
por: Muiño, Elena, et al.
Publicado: (2017)

Structural changes in NOTCH3 induced by CADASIL mutations: Role of cysteine and non-cysteine alterations
por: Lee, Soo Jung, et al.
Publicado: (2023)

A heterozygous mutation in NOTCH3 in a Chinese family with CADASIL
por: Li, Juyi, et al.
Publicado: (2022)

Corrigendum: A heterozygous mutation in NOTCH3 in a Chinese family with CADASIL
por: Li, Juyi, et al.
Publicado: (2023)

Novel mutation of the notch3 gene in arabic family with CADASIL
por: Bohlega, Saeed
Publicado: (2011)

Broad phenotype of cysteine-altering NOTCH3 variants in UK Biobank: CADASIL to nonpenetrance
por: Rutten, Julie W., et al.
Publicado: (2020)

NOTCH3 Variants and Genotype-Phenotype Features in Chinese CADASIL Patients
por: Hu, Yacen, et al.
Publicado: (2021)

R54C Mutation of NOTCH3 Gene in the First Rungus Family with CADASIL
por: Lim, Kheng-Seang, et al.
Publicado: (2015)

Correction: R54C Mutation of NOTCH3 Gene in the First Rungus Family with CADASIL
por: Lim, Kheng-Seang, et al.
Publicado: (2015)

Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients
por: Tikka, Saara, et al.
Publicado: (2009)

Identification of a Known Mutation in Notch 3 in Familiar CADASIL in China
por: Tan, Zhen-Xuan, et al.
Publicado: (2012)

Archetypal NOTCH3 mutations frequent in public exome: implications for CADASIL
por: Rutten, Julie W., et al.
Publicado: (2016)

NOTCH3 Variants in Patients with Suspected CADASIL
por: Gorukmez, Orhan, et al.
Publicado: (2023)

Novel Cysteine-Sparing Hypomorphic NOTCH3 A1604T Mutation Observed in a Family With Migraine and White Matter Lesions
por: Arnardottir, Snjolaug, et al.
Publicado: (2021)

Broadening the Genetic Horizons of CADASIL: New Variants of the NOTCH3 Gene Revealed and their Association with CADASIL
por: Mishra, Biswamohan, et al.
Publicado: (2023)

Homozygous NOTCH3 p.R587C mutation in Chinese patients with CADASIL: a case report
por: He, Ruojie, et al.
Publicado: (2020)

Molecular Chaperone BRICHOS Inhibits CADASIL-Mutated NOTCH3 Aggregation In Vitro
por: Oliveira, Daniel V., et al.
Publicado: (2022)

Headache and NOTCH3 Gene Variants in Patients with CADASIL
por: Szymanowicz, Oliwia, et al.
Publicado: (2023)

A case of recurrent intracranial hemorrhage in CADASIL caused by NOTCH3 c.1759C>T heterozygous mutation
por: Chu, Ying, et al.
Publicado: (2023)

Biochemical Characterization and Cellular Effects of CADASIL Mutants of NOTCH3
por: Meng, He, et al.
Publicado: (2012)

NOTCH3 and CADASIL syndrome: a genetic and structural overview
por: Papakonstantinou, Eleni, et al.
Publicado: (2019)

Clinical Significance of Cerebral Microbleeds Locations in CADASIL with R544C NOTCH3 Mutation
por: Lee, Jung Seok, et al.
Publicado: (2015)

A Japanese Case of CADASIL with a Rare Mutation in Exon 24 of the NOTCH3 Gene
por: Ebihara, Yuka, et al.
Publicado: (2018)

Microbleed clustering in thalamus sign in CADASIL patients with NOTCH3 R75P mutation
por: Takei, Jun, et al.
Publicado: (2023)

A family with atypical CADASIL
por: Vedeler, Christian, et al.
Publicado: (2011)

A novel NOTCH3 mutation and its clinical, neuroimaging and pathological presentation in a Chinese patient with CADASIL: A case report
por: Dang, Jing, et al.
Publicado: (2022)

A novel mutation (C67Y)in the NOTCH3 gene in a Korean CADASIL patient.
por: Moon, So-Young, et al.
Publicado: (2003)

Correction: Clinical Significance of Cerebral Microbleeds Locations in CADASIL with R544C NOTCH3 Mutation
por: Lee, Jung Seok, et al.
Publicado: (2015)

Targeted next generation sequencing identifies novel NOTCH3 gene mutations in CADASIL diagnostics patients
por: Maksemous, Neven, et al.
Publicado: (2016)

Clinical Outcomes of CADASIL-Associated NOTCH3 Mutations in 451,424 European Ancestry Community Volunteers
por: Masoli, Jane A. H., et al.
Publicado: (2018)

Detrimental effects of intracerebral haemorrhage on patients with CADASIL harbouring NOTCH3 R544C mutation
por: Chen, Chih-Hao, et al.
Publicado: (2019)

A case of CADASIL caused by NOTCH3 c.512_605delinsA heterozygous mutation
por: Liu, Jiahui, et al.
Publicado: (2021)

Notch3 and its CADASIL mutants differentially regulate cellular phenotypes
por: Lin, Chunjing, et al.
Publicado: (2021)

Clinical and imaging features of patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy and cysteine-sparing NOTCH3 mutations
por: Kim, Hyunjin, et al.
Publicado: (2020)

Heterozygous HTRA1 missense mutation in CADASIL-like family disease
por: Wu, Xiaowei, et al.
Publicado: (2018)

The comparisons of phenotype and genotype between CADASIL and CADASIL-like patients and population-specific evaluation of CADASIL scale in China
por: He, Dan, et al.
Publicado: (2016)

Genetic spectrum of NOTCH3 and clinical phenotype of CADASIL patients in different populations
por: Ni, Wang, et al.
Publicado: (2022)

Combined deficiency of Notch1 and Notch3 causes pericyte dysfunction, models CADASIL, and results in arteriovenous malformations
por: Kofler, Natalie M., et al.
Publicado: (2015)

CADASIL mutations and shRNA silencing of NOTCH3 affect actin organization in cultured vascular smooth muscle cells
por: Tikka, Saara, et al.
Publicado: (2012)

A CADASIL-Like Case with a Novel Noncysteine Mutation of the NOTCH3 Gene and Granular Deposits in the Renal Arterioles
por: Nakamura, Kuniyuki, et al.
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_7raorl6qobp2mp356atccb3kqr