Rare DEGS1 variant significantly alters de novo ceramide synthesis pathway.

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Title: Rare DEGS1 variant significantly alters de novo ceramide synthesis pathway.
Authors: Blackburn NB; South Texas Diabetes and Obesity Institute University of Texas Rio Grande Valley School of Medicine, Brownsville, TX; Department of Human Genetics, University of Texas Rio Grande Valley School of Medicine, Brownsville, TX. Electronic address: nicholas.blackburn@utrgv.edu., Michael LF; Lilly Research Laboratories,Eli Lilly and Company, Indianapolis, IN., Meikle PJ; Baker Heart and Diabetes Institute, Melbourne, VIC, Australia., Peralta JM; South Texas Diabetes and Obesity Institute University of Texas Rio Grande Valley School of Medicine, Brownsville, TX; Department of Human Genetics, University of Texas Rio Grande Valley School of Medicine, Brownsville, TX; Menzies Institute for Medical Research University of Tasmania, Hobart, TAS, Australia., Mosior M; Lilly Research Laboratories,Eli Lilly and Company, Indianapolis, IN., McAhren S; Lilly Research Laboratories,Eli Lilly and Company, Indianapolis, IN., Bui HH; Lilly Research Laboratories,Eli Lilly and Company, Indianapolis, IN., Bellinger MA; Lilly Research Laboratories,Eli Lilly and Company, Indianapolis, IN., Giles C; Baker Heart and Diabetes Institute, Melbourne, VIC, Australia., Kumar S; South Texas Diabetes and Obesity Institute University of Texas Rio Grande Valley School of Medicine, Brownsville, TX; Department of Human Genetics, University of Texas Rio Grande Valley School of Medicine, Brownsville, TX., Leandro AC; South Texas Diabetes and Obesity Institute University of Texas Rio Grande Valley School of Medicine, Brownsville, TX; Department of Human Genetics, University of Texas Rio Grande Valley School of Medicine, Brownsville, TX., Almeida M; South Texas Diabetes and Obesity Institute University of Texas Rio Grande Valley School of Medicine, Brownsville, TX; Department of Human Genetics, University of Texas Rio Grande Valley School of Medicine, Brownsville, TX., Weir JM; Baker Heart and Diabetes Institute, Melbourne, VIC, Australia., Mahaney MC; South Texas Diabetes and Obesity Institute University of Texas Rio Grande Valley School of Medicine, Brownsville, TX; Department of Human Genetics, University of Texas Rio Grande Valley School of Medicine, Brownsville, TX., Dyer TD; South Texas Diabetes and Obesity Institute University of Texas Rio Grande Valley School of Medicine, Brownsville, TX; Department of Human Genetics, University of Texas Rio Grande Valley School of Medicine, Brownsville, TX., Almasy L; Department of Biomedical and Health Informatics Children's Hospital of Philadelphia, Philadelphia, PA; Department of Human Genetics, University of Pennsylvania School of Medicine, Philadelphia, PA., VandeBerg JL; South Texas Diabetes and Obesity Institute University of Texas Rio Grande Valley School of Medicine, Brownsville, TX; Department of Human Genetics, University of Texas Rio Grande Valley School of Medicine, Brownsville, TX., Williams-Blangero S; South Texas Diabetes and Obesity Institute University of Texas Rio Grande Valley School of Medicine, Brownsville, TX; Department of Human Genetics, University of Texas Rio Grande Valley School of Medicine, Brownsville, TX., Glahn DC; Department of Psychiatry Boston Children's Hospital and Harvard Medical School, Boston, MA; Olin Neuropsychiatry Research Center Institute of Living, Hartford Hospital, Hartford, CT., Duggirala R; South Texas Diabetes and Obesity Institute University of Texas Rio Grande Valley School of Medicine, Brownsville, TX; Department of Human Genetics, University of Texas Rio Grande Valley School of Medicine, Brownsville, TX., Kowala M; Lilly Research Laboratories,Eli Lilly and Company, Indianapolis, IN., Blangero J; South Texas Diabetes and Obesity Institute University of Texas Rio Grande Valley School of Medicine, Brownsville, TX; Department of Human Genetics, University of Texas Rio Grande Valley School of Medicine, Brownsville, TX., Curran JE; South Texas Diabetes and Obesity Institute University of Texas Rio Grande Valley School of Medicine, Brownsville, TX; Department of Human Genetics, University of Texas Rio Grande Valley School of Medicine, Brownsville, TX. Electronic address: joanne.curran@utrgv.edu.
Source: Journal of lipid research [J Lipid Res] 2019 Sep; Vol. 60 (9), pp. 1630-1639. Date of Electronic Publication: 2019 Jun 21.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 0376606 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1539-7262 (Electronic) Linking ISSN: 00222275 NLM ISO Abbreviation: J Lipid Res Subsets: MEDLINE
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  Data: Rare DEGS1 variant significantly alters de novo ceramide synthesis pathway.
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  Data: <searchLink fieldCode="AU" term="%22Blackburn+NB%22">Blackburn NB</searchLink>; South Texas Diabetes and Obesity Institute University of Texas Rio Grande Valley School of Medicine, Brownsville, TX; Department of Human Genetics, University of Texas Rio Grande Valley School of Medicine, Brownsville, TX. Electronic address: nicholas.blackburn@utrgv.edu.<br /><searchLink fieldCode="AU" term="%22Michael+LF%22">Michael LF</searchLink>; Lilly Research Laboratories,Eli Lilly and Company, Indianapolis, IN.<br /><searchLink fieldCode="AU" term="%22Meikle+PJ%22">Meikle PJ</searchLink>; Baker Heart and Diabetes Institute, Melbourne, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Peralta+JM%22">Peralta JM</searchLink>; South Texas Diabetes and Obesity Institute University of Texas Rio Grande Valley School of Medicine, Brownsville, TX; Department of Human Genetics, University of Texas Rio Grande Valley School of Medicine, Brownsville, TX; Menzies Institute for Medical Research University of Tasmania, Hobart, TAS, Australia.<br /><searchLink fieldCode="AU" term="%22Mosior+M%22">Mosior M</searchLink>; Lilly Research Laboratories,Eli Lilly and Company, Indianapolis, IN.<br /><searchLink fieldCode="AU" term="%22McAhren+S%22">McAhren S</searchLink>; Lilly Research Laboratories,Eli Lilly and Company, Indianapolis, IN.<br /><searchLink fieldCode="AU" term="%22Bui+HH%22">Bui HH</searchLink>; Lilly Research Laboratories,Eli Lilly and Company, Indianapolis, IN.<br /><searchLink fieldCode="AU" term="%22Bellinger+MA%22">Bellinger MA</searchLink>; Lilly Research Laboratories,Eli Lilly and Company, Indianapolis, IN.<br /><searchLink fieldCode="AU" term="%22Giles+C%22">Giles C</searchLink>; Baker Heart and Diabetes Institute, Melbourne, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Kumar+S%22">Kumar S</searchLink>; South Texas Diabetes and Obesity Institute University of Texas Rio Grande Valley School of Medicine, Brownsville, TX; Department of Human Genetics, University of Texas Rio Grande Valley School of Medicine, Brownsville, TX.<br /><searchLink fieldCode="AU" term="%22Leandro+AC%22">Leandro AC</searchLink>; South Texas Diabetes and Obesity Institute University of Texas Rio Grande Valley School of Medicine, Brownsville, TX; Department of Human Genetics, University of Texas Rio Grande Valley School of Medicine, Brownsville, TX.<br /><searchLink fieldCode="AU" term="%22Almeida+M%22">Almeida M</searchLink>; South Texas Diabetes and Obesity Institute University of Texas Rio Grande Valley School of Medicine, Brownsville, TX; Department of Human Genetics, University of Texas Rio Grande Valley School of Medicine, Brownsville, TX.<br /><searchLink fieldCode="AU" term="%22Weir+JM%22">Weir JM</searchLink>; Baker Heart and Diabetes Institute, Melbourne, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Mahaney+MC%22">Mahaney MC</searchLink>; South Texas Diabetes and Obesity Institute University of Texas Rio Grande Valley School of Medicine, Brownsville, TX; Department of Human Genetics, University of Texas Rio Grande Valley School of Medicine, Brownsville, TX.<br /><searchLink fieldCode="AU" term="%22Dyer+TD%22">Dyer TD</searchLink>; South Texas Diabetes and Obesity Institute University of Texas Rio Grande Valley School of Medicine, Brownsville, TX; Department of Human Genetics, University of Texas Rio Grande Valley School of Medicine, Brownsville, TX.<br /><searchLink fieldCode="AU" term="%22Almasy+L%22">Almasy L</searchLink>; Department of Biomedical and Health Informatics Children's Hospital of Philadelphia, Philadelphia, PA; Department of Human Genetics, University of Pennsylvania School of Medicine, Philadelphia, PA.<br /><searchLink fieldCode="AU" term="%22VandeBerg+JL%22">VandeBerg JL</searchLink>; South Texas Diabetes and Obesity Institute University of Texas Rio Grande Valley School of Medicine, Brownsville, TX; Department of Human Genetics, University of Texas Rio Grande Valley School of Medicine, Brownsville, TX.<br /><searchLink fieldCode="AU" term="%22Williams-Blangero+S%22">Williams-Blangero S</searchLink>; South Texas Diabetes and Obesity Institute University of Texas Rio Grande Valley School of Medicine, Brownsville, TX; Department of Human Genetics, University of Texas Rio Grande Valley School of Medicine, Brownsville, TX.<br /><searchLink fieldCode="AU" term="%22Glahn+DC%22">Glahn DC</searchLink>; Department of Psychiatry Boston Children's Hospital and Harvard Medical School, Boston, MA; Olin Neuropsychiatry Research Center Institute of Living, Hartford Hospital, Hartford, CT.<br /><searchLink fieldCode="AU" term="%22Duggirala+R%22">Duggirala R</searchLink>; South Texas Diabetes and Obesity Institute University of Texas Rio Grande Valley School of Medicine, Brownsville, TX; Department of Human Genetics, University of Texas Rio Grande Valley School of Medicine, Brownsville, TX.<br /><searchLink fieldCode="AU" term="%22Kowala+M%22">Kowala M</searchLink>; Lilly Research Laboratories,Eli Lilly and Company, Indianapolis, IN.<br /><searchLink fieldCode="AU" term="%22Blangero+J%22">Blangero J</searchLink>; South Texas Diabetes and Obesity Institute University of Texas Rio Grande Valley School of Medicine, Brownsville, TX; Department of Human Genetics, University of Texas Rio Grande Valley School of Medicine, Brownsville, TX.<br /><searchLink fieldCode="AU" term="%22Curran+JE%22">Curran JE</searchLink>; South Texas Diabetes and Obesity Institute University of Texas Rio Grande Valley School of Medicine, Brownsville, TX; Department of Human Genetics, University of Texas Rio Grande Valley School of Medicine, Brownsville, TX. Electronic address: joanne.curran@utrgv.edu.
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  Data: <searchLink fieldCode="JN" term="%220376606%22">Journal of lipid research</searchLink> [J Lipid Res] 2019 Sep; Vol. 60 (9), pp. 1630-1639. <i>Date of Electronic Publication: </i>2019 Jun 21.
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