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. |
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| 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 |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 31227640 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Rare DEGS1 variant significantly alters de novo ceramide synthesis pathway. – Name: Author Label: Authors Group: Au 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. – Name: TitleSource Label: Source Group: Src 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. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier%22">Elsevier </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>0376606 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1539-7262 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200222275%22">00222275 </searchLink><i>NLM ISO Abbreviation: </i>J Lipid Res <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=31227640 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1194/jlr.P094433 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 1630 Titles: – TitleFull: Rare DEGS1 variant significantly alters de novo ceramide synthesis pathway. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Blackburn NB – PersonEntity: Name: NameFull: Michael LF – PersonEntity: Name: NameFull: Meikle PJ – PersonEntity: Name: NameFull: Peralta JM – PersonEntity: Name: NameFull: Mosior M – PersonEntity: Name: NameFull: McAhren S – PersonEntity: Name: NameFull: Bui HH – PersonEntity: Name: NameFull: Bellinger MA – PersonEntity: Name: NameFull: Giles C – PersonEntity: Name: NameFull: Kumar S – PersonEntity: Name: NameFull: Leandro AC – PersonEntity: Name: NameFull: Almeida M – PersonEntity: Name: NameFull: Weir JM – PersonEntity: Name: NameFull: Mahaney MC – PersonEntity: Name: NameFull: Dyer TD – PersonEntity: Name: NameFull: Almasy L – PersonEntity: Name: NameFull: VandeBerg JL – PersonEntity: Name: NameFull: Williams-Blangero S – PersonEntity: Name: NameFull: Glahn DC – PersonEntity: Name: NameFull: Duggirala R – PersonEntity: Name: NameFull: Kowala M – PersonEntity: Name: NameFull: Blangero J – PersonEntity: Name: NameFull: Curran JE IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 09 Text: 2019 Sep Type: published Y: 2019 Identifiers: – Type: issn-electronic Value: 1539-7262 Numbering: – Type: volume Value: 60 – Type: issue Value: 9 Titles: – TitleFull: Journal of lipid research Type: main |
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