ArticleNature genetics2014
Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm.
Article in Nature genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 64 papers.
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Who cites it
64 citing papers in PubMed, 156 citations in OpenAlex.
- A 10-Year-Old Boy With Chronic Atrial and Intestinal Dysrhythmia (CAID) and Chronic Intestinal Pseudo-Obstruction (CIPO).Clinical case reports · 2026Article
- Chronic atrial and intestinal dysrythmia syndrome: A late-onset intestinal pseudo-obstruction and cardiac dysfunction due to an SGO1 mutation.JPGN reports · 2025Article
- Rare variants and founder effect in the Beauce region of Quebec.Communications biology · 2025Article
- Engineering precision zebrafish alleles of human disease.bioRxiv : the preprint server for biology · 2025Article
- Shugoshin 1 expression in various cancers: a potential target for therapy.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2025Review
- Chronic atrial and intestinal dysrhythmia: A rare genetic disorder of intestinal pseudo-obstruction.JPGN reports · 2025Article
- Genome-wide association analysis reveals insights into the genetic architecture of mesenteric torsion in pigs.Scientific reports · 2025Article
- Review
- Calcium wave dynamics in the embryonic mouse gut mesenchyme: impact on smooth muscle differentiation.Communications biology · 2024Article
- Cellular and molecular basis of proximal small intestine disorders.Nature reviews. Gastroenterology & hepatology · 2024Review
- Multi-disciplinary Insights from the First European Forum on Visceral Myopathy 2022 Meeting.Digestive diseases and sciences · 2023Review
- Genetics of sinoatrial node function and heart rate disorders.Disease models & mechanisms · 2023Review
- Enteric Neuromyopathies: Highlights on Genetic Mechanisms Underlying Chronic Intestinal Pseudo-Obstruction.Biomolecules · 2022Review
- European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases.Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology · 2022Article
- The zebrafish cohesin protein Sgo1 is required for cardiac function and eye development.Developmental dynamics : an official publication of the American Association of Anatomists · 2022Article
- European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases.Journal of arrhythmia · 2022Article
- Comment to the Description of a Novel Cohesinopathy in Chronic Intestinal Pseudo Obstruction.Journal of neurogastroenterology and motility · 2022Article
- Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA).Orphanet journal of rare diseases · 2022Article
- BiallelicScience advances · 2022Article
- Somatic mosaicism inFrontiers in cell and developmental biology · 2022Article
4 more citing papers are in PubMed but not listed here.
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Authors and funding
34 authors at 12 institutions in 5 countries.
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Abstract
The pacemaking activity of specialized tissues in the heart and gut results in lifelong rhythmic contractions. Here we describe a new syndrome characterized by Chronic Atrial and Intestinal Dysrhythmia, termed CAID syndrome, in 16 French Canadians and 1 Swede. We show that a single shared homozygous founder mutation in SGOL1, a component of the cohesin complex, causes CAID syndrome. Cultured dermal fibroblasts from affected individuals showed accelerated cell cycle progression, a higher rate of senescence and enhanced activation of TGF-β signaling. Karyotypes showed the typical railroad appearance of a centromeric cohesion defect. Tissues derived from affected individuals displayed pathological changes in both the enteric nervous system and smooth muscle. Morpholino-induced knockdown of sgol1 in zebrafish recapitulated the abnormalities seen in humans with CAID syndrome. Our findings identify CAID syndrome as a novel generalized dysrhythmia, suggesting a new role for SGOL1 and the cohesin complex in mediating the integrity of human cardiac and gut rhythm.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.