title: Cohesin embraces new phenotypes.
abstract: 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.
authors.affiliation: Division of Human Molecular Genetics, The Children's Hospital of Philadelphia and The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
authors.forename: Ian D
authors.initials: ID
authors.lastname: Krantz
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000818:Animals; D001145:Arrhythmias, Cardiac / Q000235:genetics*; D018797:Cell Cycle Proteins / Q000235:genetics*; D002868:Chromosomal Proteins, Non-Histone / Q000235:genetics*; D006801:Humans; D007410:Intestinal Diseases / Q000235:genetics*; D009119:Muscle Contraction / Q000502:physiology*; D015398:Signal Transduction / Q000235:genetics*; D000097722:Cohesins
chemical_list: D018797:Cell Cycle Proteins; D002868:Chromosomal Proteins, Non-Histone; D000097722:Cohesins; C496644:SGO1 protein, human