Biallelic UNC80 mutations caused infantile hypotonia with psychomotor retardation and characteristic facies 2 in two Chinese patients with variable phenotypes-Reference-Cited by-同舟云学术

Biallelic UNC80 mutations caused infantile hypotonia with psychomotor retardation and characteristic facies 2 in two Chinese patients with variable phenotypes

Published:2018-06 Issue: Volume:660 Page:13-17
ISSN:0378-1119
Container-title:Gene
language:en
Short-container-title:Gene

Author:

He Yunjuan^ORCID,Ji Xing,Yan Hui,Ye Xiantao,Liu Yu,Wei Wei,Xiao Bing,Sun Yu

Funder

Shanghai Municipal Commission of Health and Family Planning Foundation

Shanghai Jiao Tong University School of Medicine

Publisher

Elsevier BV

Subject

Genetics,General Medicine

Reference10 articles.

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2. LOVD v.2.0: the next generation in gene variant databases;Fokkema;Hum. Mutat.,2011

3. Extracellular calcium controls background current and neuronal excitability via an UNC79-UNC80-NALCN cation channel complex;Lu;Neuron,2010

4. UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN;Perez;J. Med. Genet.,2016

5. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology;Richards;Genet. Med.,2015

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1. New insights into the physiology and pathophysiology of the atypical sodium leak channel NALCN;Physiological Reviews;2024-01-01

2. A new neurodevelopmental disorder linked to heterozygous variants in UNC79;Genetics in Medicine;2023-09

3. Novel nonsense mutation in UNC80 in a Turkish patient further validates the sociable skill and severe gastrointestinal problems as part of disease spectrum;American Journal of Medical Genetics Part A;2023-04-17

4. Structure and mechanism of NALCN-FAM155A-UNC79-UNC80 channel complex;Nature Communications;2022-05-12

5. Architecture of the human NALCN channelosome;Cell Discovery;2022-04-06