Cargando…

NOTCH3 Variants and Genotype-Phenotype Features in Chinese CADASIL Patients

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a cerebral small vessel disease caused by mutations in the NOTCH3 gene. Archetypal disease-causing mutations are cysteine-affecting variants within the 34 epidermal growth factor-like repeat (EGFr...

Descripción completa

Detalles Bibliográficos
Autores principales:	Hu, Yacen, Sun, Qiying, Zhou, Yafang, Yi, Fang, Tang, Haiyun, Yao, Lingyan, Tian, Yun, Xie, Nina, Luo, Mengchuan, Wang, Zhiqin, Liao, Xinxin, Xu, Hongwei, Zhou, Lin
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/PMC8320595/ https://www.ncbi.nlm.nih.gov/pubmed/34335700 http://dx.doi.org/10.3389/fgene.2021.705284

Ejemplares similares

Age of onset correlates with clinical characteristics and prognostic outcomes in neuromyelitis optica spectrum disorder
por: Hu, Yacen, et al.
Publicado: (2022)

Non-coding RNA in Fragile X Syndrome and Converging Mechanisms Shared by Related Disorders
por: Zhou, Yafang, et al.
Publicado: (2019)

Clinical features and genetic characteristics of two Chinese pedigrees with fatal family insomnia
por: He, Runcheng, et al.
Publicado: (2019)

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)

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

Notch3 and its CADASIL mutants differentially regulate cellular phenotypes
por: Lin, Chunjing, 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)

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

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

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)

Prolonged Hemiplegic Migraine Led to Persistent Hyperperfusion and Cortical Necrosis: Case Report and Literature Review
por: Hu, Yacen, et al.
Publicado: (2021)

Genotype and Phenotype Differences in CADASIL from an Asian Perspective
por: Kim, Yerim, et al.
Publicado: (2022)

A New NOTCH3 Gene Mutation Associated With a CADASIL (Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy) Diagnosis
por: Neto, Daniela, et al.
Publicado: (2022)

Association of NOTCH3 Variant Position With Stroke Onset and Other Clinical Features Among Patients With CADASIL
por: Cho, Bernard P.H., et al.
Publicado: (2022)

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

Clinical features of NOTCH2NLC-related neuronal intranuclear inclusion disease
por: Tian, Yun, et al.
Publicado: (2022)

NO TCH3 variant position is associated with NOTCH3 aggregation load in CADASIL vasculature
por: Gravesteijn, Gido, et al.
Publicado: (2021)

Four Novel Disease-Causing Variants in the NOTCH3 Gene in Russian Patients with CADASIL
por: Bostanova, Fatima, et al.
Publicado: (2023)

Characterization of CADASIL among the Han Chinese in Taiwan: Distinct Genotypic and Phenotypic Profiles
por: Liao, Yi-Chu, et al.
Publicado: (2015)

Monotonicity is a key feature of genotype-phenotype maps
por: Gjuvsland, Arne B., et al.
Publicado: (2013)

Insulin-Independent and Dependent Glucose Transporters in Brain Mural Cells in CADASIL
por: Panahi, Mahmod, et al.
Publicado: (2020)

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

Clinical features and spectrum of NOTCH3 variants in Finnish patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)
por: Mönkäre, Saana, et al.
Publicado: (2022)

CADASIL and CARASIL
por: Tikka, Saara, et al.
Publicado: (2014)

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

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)

Newborn Screening for G6PD Deficiency in Xiamen, China: Prevalence, Variant Spectrum, and Genotype-Phenotype Correlations
por: Wang, Xudong, et al.
Publicado: (2021)

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

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

Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL): A Rare Cause of Transient Ischemic Attack
por: Ashraf, Shoaib, et al.
Publicado: (2022)

The effect of NOTCH3 pathogenic variant position on CADASIL disease severity: NOTCH3 EGFr 1–6 pathogenic variant are associated with a more severe phenotype and lower survival compared with EGFr 7–34 pathogenic variant
por: Rutten, Julie W., et al.
Publicado: (2018)

Four novel variants identified in primary hyperoxaluria and genotypic and phenotypic analysis in 21 Chinese patients
por: Xin, Qing, et al.
Publicado: (2023)

Phenotype-Genotype analysis of caucasian patients with high risk of osteoarthritis
por: Wang, Yanfei, et al.
Publicado: (2022)

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

A Novel Missense Variant of HOXD13 Caused Atypical Synpolydactyly by Impairing the Downstream Gene Expression and Literature Review for Genotype–Phenotype Correlations
por: Guo, Ruiji, et al.
Publicado: (2021)

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

Correction: The effect of NOTCH3 pathogenic variant position on CADASIL disease severity: NOTCH3 EGFr 1–6 pathogenic variant are associated with a more severe phenotype and lower survival compared with EGFr 7–34 pathogenic variant
por: Rutten, Julie W., et al.
Publicado: (2018)

Genotype-phenotype pattern analysis of pathogenic PAX9 variants in Chinese Han families with non-syndromic oligodontia
por: Ren, Jiabao, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_4cnq4p8bbvc04bm3vtcjqboaf4