Phenotypes Associated with NOTCH3 Cysteine-Sparing Mutations in Patients with Clinical Suspicion of CADASIL: A Systematic Review.

Humans CADASIL / genetics Receptor, Notch3 / genetics Phenotype Cysteine / genetics Mutation Cognitive Dysfunction / genetics
CADASIL NOTCH3 clinical phenotype cysteine-sparing radiological cerebral phenotype systematic review

Journal

International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791

Informations de publication

Date de publication:
13 Aug 2024
Historique:
received: 13 07 2024
revised: 05 08 2024
accepted: 10 08 2024
medline: 31 8 2024
pubmed: 31 8 2024
entrez: 29 8 2024
Statut: epublish

Résumé

CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is caused by

Identifiants

DOI: 10.3390/ijms25168796 PMID: 39201482
pubmed: 39201482
pii: ijms25168796
doi: 10.3390/ijms25168796
pii:
doi:

Substances chimiques

Receptor, Notch3 0
NOTCH3 protein, human 0
Cysteine K848JZ4886

Types de publication

Journal Article Systematic Review Review

Langues

eng

Sous-ensembles de citation

IM

Subventions

Organisme : the CAMS Innovation Fund for Medical Sciences
ID : CIFMS #2021-I2M-1-025

Auteurs

Yuan Cao (Y)

Department of Neurology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.
ORCID: 0000-0003-4257-6908

Ding-Ding Zhang (DD)

Central Research Laboratory, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.

Fei Han (F)

Department of Neurology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.

Nan Jiang (N)

Department of Neurology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.

Ming Yao (M)

Department of Neurology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.

Yi-Cheng Zhu (YC)

Central Research Laboratory, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Phenotypes Associated with NOTCH3...
questionsmedicales.fr › États, signes et symptômes pathologiques › Processus pathologiques › Nécrose › Infarctus › Infarctus encéphalique › Infarctus cérébral › CADASIL › Phenotypes Associated with NOTCH3...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Facteurs de transcription › Récepteurs Notch › Récepteur Notch3 › Phenotypes Associated with NOTCH3...
questionsmedicales.fr › Phénomènes génétiques › Phénotype › Phenotypes Associated with NOTCH3...
questionsmedicales.fr › Acides aminés, peptides et protéines › Acides aminés › Acides aminés soufrés › Cystéine › Phenotypes Associated with NOTCH3...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Phenotypes Associated with NOTCH3...
questionsmedicales.fr › Troubles mentaux › Troubles neurocognitifs › Troubles de la cognition › Dysfonctionnement cognitif › Phenotypes Associated with NOTCH3...