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

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Title: Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm.
Authors: Chetaille P; Department of Pediatrics, Centre Mère Enfants Soleil, Centre Hospitalier de l'Université (CHU) de Québec, Quebec City, Quebec, Canada., Preuss C; Cardiovascular Genetics, Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine Research Centre, Université de Montréal, Montreal, Quebec, Canada., Burkhard S; Hubrecht Institute, Royal Netherlands Academy of Arts and Sciences (KNAW) and University Medical Center Utrecht, Utrecht, the Netherlands., Côté JM; Department of Pediatrics, Centre Mère Enfants Soleil, Centre Hospitalier de l'Université (CHU) de Québec, Quebec City, Quebec, Canada., Houde C; Department of Pediatrics, Centre Mère Enfants Soleil, Centre Hospitalier de l'Université (CHU) de Québec, Quebec City, Quebec, Canada., Castilloux J; Department of Pediatrics, Centre Mère Enfants Soleil, Centre Hospitalier de l'Université (CHU) de Québec, Quebec City, Quebec, Canada., Piché J; Cardiovascular Genetics, Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine Research Centre, Université de Montréal, Montreal, Quebec, Canada., Gosset N; Cardiovascular Genetics, Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine Research Centre, Université de Montréal, Montreal, Quebec, Canada., Leclerc S; Cardiovascular Genetics, Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine Research Centre, Université de Montréal, Montreal, Quebec, Canada., Wünnemann F; Cardiovascular Genetics, Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine Research Centre, Université de Montréal, Montreal, Quebec, Canada., Thibeault M; Cardiovascular Genetics, Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine Research Centre, Université de Montréal, Montreal, Quebec, Canada., Gagnon C; Cardiovascular Genetics, Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine Research Centre, Université de Montréal, Montreal, Quebec, Canada., Galli A; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK., Tuck E; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK., Hickson GR; Department of Pediatrics, Université de Montréal, Montreal, Quebec, Canada., El Amine N; Department of Pediatrics, Université de Montréal, Montreal, Quebec, Canada., Boufaied I; Department of Pediatrics, Université de Montréal, Montreal, Quebec, Canada., Lemyre E; Department of Pediatrics, Université de Montréal, Montreal, Quebec, Canada., de Santa Barbara P; INSERM U1046, Montpellier, France., Faure S; INSERM U1046, Montpellier, France., Jonzon A; Department of Women's and Children's Health, Section for Pediatrics, Astrid Lindgren's Children's Hospital, Uppsala University, Uppsala, Sweden., Cameron M; Cardiovascular Genetics, Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine Research Centre, Université de Montréal, Montreal, Quebec, Canada., Dietz HC; Howard Hughes Medical Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Gallo-McFarlane E; Howard Hughes Medical Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Benson DW; Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA., Moreau C; Department of Pediatrics, Université de Montréal, Montreal, Quebec, Canada., Labuda D; Department of Pediatrics, Université de Montréal, Montreal, Quebec, Canada., Zhan SH; Michael Smith Genome Sciences Centre, BC Cancer Agency, Vancouver, British Columbia, Canada., Shen Y; Michael Smith Genome Sciences Centre, BC Cancer Agency, Vancouver, British Columbia, Canada., Jomphe M; Projet BALSAC, Université du Québec à Chicoutimi, Chicoutimi, Quebec, Canada., Jones SJ; Michael Smith Genome Sciences Centre, BC Cancer Agency, Vancouver, British Columbia, Canada., Bakkers J; Hubrecht Institute, Royal Netherlands Academy of Arts and Sciences (KNAW) and University Medical Center Utrecht, Utrecht, the Netherlands., Andelfinger G; 1] Cardiovascular Genetics, Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine Research Centre, Université de Montréal, Montreal, Quebec, Canada. [2] Department of Pediatrics, Université de Montréal, Montreal, Quebec, Canada. [3] Department of Biochemistry, Université de Montréal, Montreal, Quebec, Canada.
Corporate Authors: FORGE Canada Consortium
Source: Nature genetics [Nat Genet] 2014 Nov; Vol. 46 (11), pp. 1245-9. Date of Electronic Publication: 2014 Oct 05.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm.
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  Data: <searchLink fieldCode="AU" term="%22Chetaille+P%22">Chetaille P</searchLink>; Department of Pediatrics, Centre Mère Enfants Soleil, Centre Hospitalier de l'Université (CHU) de Québec, Quebec City, Quebec, Canada.<br /><searchLink fieldCode="AU" term="%22Preuss+C%22">Preuss C</searchLink>; Cardiovascular Genetics, Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine Research Centre, Université de Montréal, Montreal, Quebec, Canada.<br /><searchLink fieldCode="AU" term="%22Burkhard+S%22">Burkhard S</searchLink>; Hubrecht Institute, Royal Netherlands Academy of Arts and Sciences (KNAW) and University Medical Center Utrecht, Utrecht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Côté+JM%22">Côté JM</searchLink>; Department of Pediatrics, Centre Mère Enfants Soleil, Centre Hospitalier de l'Université (CHU) de Québec, Quebec City, Quebec, Canada.<br /><searchLink fieldCode="AU" term="%22Houde+C%22">Houde C</searchLink>; Department of Pediatrics, Centre Mère Enfants Soleil, Centre Hospitalier de l'Université (CHU) de Québec, Quebec City, Quebec, Canada.<br /><searchLink fieldCode="AU" term="%22Castilloux+J%22">Castilloux J</searchLink>; Department of Pediatrics, Centre Mère Enfants Soleil, Centre Hospitalier de l'Université (CHU) de Québec, Quebec City, Quebec, Canada.<br /><searchLink fieldCode="AU" term="%22Piché+J%22">Piché J</searchLink>; Cardiovascular Genetics, Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine Research Centre, Université de Montréal, Montreal, Quebec, Canada.<br /><searchLink fieldCode="AU" term="%22Gosset+N%22">Gosset N</searchLink>; Cardiovascular Genetics, Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine Research Centre, Université de Montréal, Montreal, Quebec, Canada.<br /><searchLink fieldCode="AU" term="%22Leclerc+S%22">Leclerc S</searchLink>; Cardiovascular Genetics, Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine Research Centre, Université de Montréal, Montreal, Quebec, Canada.<br /><searchLink fieldCode="AU" term="%22Wünnemann+F%22">Wünnemann F</searchLink>; Cardiovascular Genetics, Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine Research Centre, Université de Montréal, Montreal, Quebec, Canada.<br /><searchLink fieldCode="AU" term="%22Thibeault+M%22">Thibeault M</searchLink>; Cardiovascular Genetics, Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine Research Centre, Université de Montréal, Montreal, Quebec, Canada.<br /><searchLink fieldCode="AU" term="%22Gagnon+C%22">Gagnon C</searchLink>; Cardiovascular Genetics, Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine Research Centre, Université de Montréal, Montreal, Quebec, Canada.<br /><searchLink fieldCode="AU" term="%22Galli+A%22">Galli A</searchLink>; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.<br /><searchLink fieldCode="AU" term="%22Tuck+E%22">Tuck E</searchLink>; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.<br /><searchLink fieldCode="AU" term="%22Hickson+GR%22">Hickson GR</searchLink>; Department of Pediatrics, Université de Montréal, Montreal, Quebec, Canada.<br /><searchLink fieldCode="AU" term="%22El+Amine+N%22">El Amine N</searchLink>; Department of Pediatrics, Université de Montréal, Montreal, Quebec, Canada.<br /><searchLink fieldCode="AU" term="%22Boufaied+I%22">Boufaied I</searchLink>; Department of Pediatrics, Université de Montréal, Montreal, Quebec, Canada.<br /><searchLink fieldCode="AU" term="%22Lemyre+E%22">Lemyre E</searchLink>; Department of Pediatrics, Université de Montréal, Montreal, Quebec, Canada.<br /><searchLink fieldCode="AU" term="%22de+Santa+Barbara+P%22">de Santa Barbara P</searchLink>; INSERM U1046, Montpellier, France.<br /><searchLink fieldCode="AU" term="%22Faure+S%22">Faure S</searchLink>; INSERM U1046, Montpellier, France.<br /><searchLink fieldCode="AU" term="%22Jonzon+A%22">Jonzon A</searchLink>; Department of Women's and Children's Health, Section for Pediatrics, Astrid Lindgren's Children's Hospital, Uppsala University, Uppsala, Sweden.<br /><searchLink fieldCode="AU" term="%22Cameron+M%22">Cameron M</searchLink>; Cardiovascular Genetics, Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine Research Centre, Université de Montréal, Montreal, Quebec, Canada.<br /><searchLink fieldCode="AU" term="%22Dietz+HC%22">Dietz HC</searchLink>; Howard Hughes Medical Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Gallo-McFarlane+E%22">Gallo-McFarlane E</searchLink>; Howard Hughes Medical Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Benson+DW%22">Benson DW</searchLink>; Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.<br /><searchLink fieldCode="AU" term="%22Moreau+C%22">Moreau C</searchLink>; Department of Pediatrics, Université de Montréal, Montreal, Quebec, Canada.<br /><searchLink fieldCode="AU" term="%22Labuda+D%22">Labuda D</searchLink>; Department of Pediatrics, Université de Montréal, Montreal, Quebec, Canada.<br /><searchLink fieldCode="AU" term="%22Zhan+SH%22">Zhan SH</searchLink>; Michael Smith Genome Sciences Centre, BC Cancer Agency, Vancouver, British Columbia, Canada.<br /><searchLink fieldCode="AU" term="%22Shen+Y%22">Shen Y</searchLink>; Michael Smith Genome Sciences Centre, BC Cancer Agency, Vancouver, British Columbia, Canada.<br /><searchLink fieldCode="AU" term="%22Jomphe+M%22">Jomphe M</searchLink>; Projet BALSAC, Université du Québec à Chicoutimi, Chicoutimi, Quebec, Canada.<br /><searchLink fieldCode="AU" term="%22Jones+SJ%22">Jones SJ</searchLink>; Michael Smith Genome Sciences Centre, BC Cancer Agency, Vancouver, British Columbia, Canada.<br /><searchLink fieldCode="AU" term="%22Bakkers+J%22">Bakkers J</searchLink>; Hubrecht Institute, Royal Netherlands Academy of Arts and Sciences (KNAW) and University Medical Center Utrecht, Utrecht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Andelfinger+G%22">Andelfinger G</searchLink>; 1] Cardiovascular Genetics, Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine Research Centre, Université de Montréal, Montreal, Quebec, Canada. [2] Department of Pediatrics, Université de Montréal, Montreal, Quebec, Canada. [3] Department of Biochemistry, Université de Montréal, Montreal, Quebec, Canada.
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