Cohesin embraces new phenotypes

A new study identifies homozygous missense mutations in SGOL1, which encodes a component of the cohesin complex, in a newly described disorder termed Chronic Atrial and Intestinal Dysrhythmia (CAID) syndrome. These findings implicate cohesin in the regulation of intrinsic cardiac and intestinal rhyt...

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Bibliographic Details
Published inNature genetics Vol. 46; no. 11; pp. 1157 - 1158
Main Author Krantz, Ian D
Format Journal Article
LanguageEnglish
Published United States Nature Publishing Group 01.11.2014
Subjects
Abnormalities, Multiple - genetics
Animals
Arrhythmias, Cardiac - genetics
Cell cycle
Cell Cycle Proteins - genetics
Cell division
Chromosomal Proteins, Non-Histone - genetics
Chromosomes
Cohesins
Deoxyribonucleic acid
DNA
Gene expression
Gene mutations
Genetic aspects
Genetic research
Genomes
Health aspects
Humans
Identification and classification
Insects
Intestinal Diseases - genetics
Kinases
Muscle Contraction - physiology
Mutation
Phenotype
Proteins
Signal Transduction - genetics
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Summary:A new study identifies homozygous missense mutations in SGOL1, which encodes a component of the cohesin complex, in a newly described disorder termed Chronic Atrial and Intestinal Dysrhythmia (CAID) syndrome. These findings implicate cohesin in the regulation of intrinsic cardiac and intestinal rhythm and further expand the growing group of disorders termed the cohesinopathies.
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SourceType-Scholarly Journals-1
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ObjectType-Commentary-3
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ISSN:1061-4036
1546-1718
DOI:10.1038/ng.3123