Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm

Philippe Chetaille,Christoph Preuss,Silja Burkhard, Jean-Marc Côté,Christine Houde, Julie Castilloux,Jessica Piché, Natacha Gosset,Séverine Leclerc,Florian Wünnemann,Maryse Thibeault, Carmen Gagnon,Antonella Galli,Elizabeth Tuck,Gilles R Hickson,Nour El Amine, Ines Boufaied,Emmanuelle Lemyre,Pascal de Santa Barbara,Sandrine Faure,Anders Jonzon, Michel Cameron,Harry C Dietz,Elena Gallo-McFarlane,D Woodrow Benson,Claudia Moreau,Damian Labuda,Shing H Zhan,Yaoqing Shen,Michèle Jomphe,Steven J M Jones,Jeroen Bakkers,Gregor Andelfinger

NATURE GENETICS（2014）

引用 90|浏览39

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摘要

Gregor Andelfinger and colleagues identify mutations in SGOL1 that cause a novel cohesinopathy characterized by chronic atrial and intestinal dysrhythmia, termed CAID syndrome. SGOL1 encodes a component of the cohesin complex, suggesting that cardiac and gut rhythm are regulated by this complex.

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medical genetics,population genetics

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