A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development.

Am J Hum Genet. 2019 May 02;104(5):985-989. Epub 2019 Apr 18

{{ author.authorName }}^{{{getOrganisationIndexOf(author)}}} {{ author.authorName }}^{{{getOrganisationIndexOf(author)}}}

+ et al

[No authors listed]

Author information

^{{index+1}} {{ organisation }}

摘要

We report a recurrent CNOT1 de novo missense mutation, GenBank: NM_016284.4; c.1603C>T (p.Arg535Cys), resulting in a syndrome of pancreatic agenesis and abnormal forebrain development in three individuals and a similar phenotype in mice. CNOT1 is a transcriptional repressor that has been suggested as being critical for maintaining embryonic stem cells in a pluripotent state. These findings suggestÂ that CNOT1 plays a critical role in pancreatic and neurological development and describe a novel genetic syndrome of pancreatic agenesis and holoprosencephaly.

KEYWORDS: {{ getKeywords(articleDetailText.words) }}

基因功能

{{$index+1}}.{{ gene }}

图表

‹ › ×

原始数据

保存测序数据

Sample name	Organism	Experiment title	Sample type	Library instrument	Attributes
Sample name	Organism	Experiment title	Sample type	Library instrument	{{attr}}
{{ dataList.sampleTitle }}	{{ dataList.organism }}	{{ dataList.expermentTitle }}	{{ dataList.sampleType }}	{{ dataList.libraryInstrument }}	{{ showAttributeName(index,attr,dataList.attributes) }}

A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development.

摘要

基因功能

图表

基因

原始数据

文献解读

分析平台

分析平台

分析流程

{{currentAnalyse.title}}