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

Nature Genetics

Volumn 46, Issue 11, 2014, Pages 1245-1248

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

^a LAVAL UNIVERSITY   (Canada)

^b UNIVERSITY OF MONTREAL   (Canada)

^c UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^d WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^e UNIVERSITÉ DE MONTRÉAL   (Canada)

^f UNIVERSITY OF MONTPELLIER   (France)

^g UPPSALA UNIVERSITY   (Sweden)

^h JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

ⁱ MEDICAL COLLEGE OF WISCONSIN   (United States)

^j BRITISH COLUMBIA CANCER AGENCY   (Canada)

^k UNIVERSITÉ DU QUÉBEC À CHICOUTIMI   (Canada)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CELL CYCLE PROTEIN; COHESIN; NONHISTONE PROTEIN; SGOL1 PROTEIN, HUMAN; TRANSFORMING GROWTH FACTOR BETA;

ANIMAL; CANADA; CELL CYCLE; ENTEROPATHY; FIBROBLAST; FOUNDER EFFECT; GASTROINTESTINAL TRACT; GENE SILENCING; GENETICS; HEART ARRHYTHMIA; HUMAN; INTESTINE INNERVATION; KARYOTYPING; METABOLISM; MULTIPLE MALFORMATION SYNDROME; MUSCLE CONTRACTION; MUTATION; PATHOLOGY; PATHOPHYSIOLOGY; PHYSIOLOGY; SIGNAL TRANSDUCTION; SYNDROME; VASCULAR SMOOTH MUSCLE; ZEBRA FISH;

ABNORMALITIES, MULTIPLE; ANIMALS; ARRHYTHMIAS, CARDIAC; CELL CYCLE; CELL CYCLE PROTEINS; CHROMOSOMAL PROTEINS, NON-HISTONE; ENTERIC NERVOUS SYSTEM; FIBROBLASTS; FOUNDER EFFECT; GASTROINTESTINAL TRACT; GENE KNOCKDOWN TECHNIQUES; HUMANS; INTESTINAL DISEASES; KARYOTYPING; MUSCLE CONTRACTION; MUSCLE, SMOOTH, VASCULAR; MUTATION; QUEBEC; SIGNAL TRANSDUCTION; SYNDROME; TRANSFORMING GROWTH FACTOR BETA; ZEBRAFISH;

EID: 84908684632     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.3113     Document Type: Article

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