Cohesin embraces new phenotypes
Copyright policy )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 rhythm and further expand the growing group of disorders termed the cohesinopathies.
- University of Pennsylvania United States
- Children's Hospital of Philadelphia United States
Chromosomal Proteins, Non-Histone, Arrhythmias, Cardiac, Cell Cycle Proteins, Intestinal Diseases, Animals, Humans, Abnormalities, Multiple, Cohesins, Muscle Contraction, Signal Transduction
Chromosomal Proteins, Non-Histone, Arrhythmias, Cardiac, Cell Cycle Proteins, Intestinal Diseases, Animals, Humans, Abnormalities, Multiple, Cohesins, Muscle Contraction, Signal Transduction
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