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Biallelic Mutations in P4HTM Cause Syndromic Obesity.

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Title: Biallelic Mutations in P4HTM Cause Syndromic Obesity.
Authors: Saeed S; Department of Metabolism, Digestion and Reproduction, Imperial College London, London, U.K.; INSERM UMR 1283, CNRS UMR 8199, European Genomic Institute for Diabetes, Institut Pasteur de Lille, Lille, France.; University of Lille, Lille University Hospital, Lille, France., Ning L; INSERM UMR 1283, CNRS UMR 8199, European Genomic Institute for Diabetes, Institut Pasteur de Lille, Lille, France.; University of Lille, Lille University Hospital, Lille, France., Badreddine A; INSERM UMR 1283, CNRS UMR 8199, European Genomic Institute for Diabetes, Institut Pasteur de Lille, Lille, France.; University of Lille, Lille University Hospital, Lille, France., Mirza MU; Department of Chemistry and Biochemistry, University of Windsor, Windsor, Ontario, Canada., Boissel M; Department of Metabolism, Digestion and Reproduction, Imperial College London, London, U.K.; INSERM UMR 1283, CNRS UMR 8199, European Genomic Institute for Diabetes, Institut Pasteur de Lille, Lille, France.; University of Lille, Lille University Hospital, Lille, France., Khanam R; School of Life Sciences, Forman Christian College, Lahore, Pakistan., Manzoor J; Department of Paediatric Endocrinology, Children's Hospital, Lahore, Pakistan., Janjua QM; Department of Physiology and Biophysics, National University of Science and Technology, Sohar, Oman., Khan WI; The Children Hospital and the Institute of Child Health, Multan, Pakistan., Toussaint B; INSERM UMR 1283, CNRS UMR 8199, European Genomic Institute for Diabetes, Institut Pasteur de Lille, Lille, France.; University of Lille, Lille University Hospital, Lille, France., Vaillant E; INSERM UMR 1283, CNRS UMR 8199, European Genomic Institute for Diabetes, Institut Pasteur de Lille, Lille, France.; University of Lille, Lille University Hospital, Lille, France., Amanzougarene S; INSERM UMR 1283, CNRS UMR 8199, European Genomic Institute for Diabetes, Institut Pasteur de Lille, Lille, France.; University of Lille, Lille University Hospital, Lille, France., Derhourhi M; INSERM UMR 1283, CNRS UMR 8199, European Genomic Institute for Diabetes, Institut Pasteur de Lille, Lille, France.; University of Lille, Lille University Hospital, Lille, France., Trant JF; Department of Chemistry and Biochemistry, University of Windsor, Windsor, Ontario, Canada., Siegert AM; Medical Research Council Metabolic Diseases Unit, Wellcome-MRC Institute of Metabolic Science, Metabolic Research Laboratories, University of Cambridge, Cambridge, U.K., Lam BYH; Medical Research Council Metabolic Diseases Unit, Wellcome-MRC Institute of Metabolic Science, Metabolic Research Laboratories, University of Cambridge, Cambridge, U.K., Yeo GSH; Medical Research Council Metabolic Diseases Unit, Wellcome-MRC Institute of Metabolic Science, Metabolic Research Laboratories, University of Cambridge, Cambridge, U.K., Chabraoui L; Laboratory of Biochemistry and Molecular Biology, Faculty of Medicine and Pharmacy, Mohammed V University, Rabat, Morocco., Touzani A; Children's Hospital of Rabat and Laboratory of Biochemistry and Molecular Biology, Faculty of Medicine and Pharmacy, Mohammed V University, Rabat, Morocco., Kulkarni A; Department of Paediatric Endocrinology, Sir H. N. Reliance Foundation, SRCC Children's Hospital, Mumbai, India., Farooqi IS; Medical Research Council Metabolic Diseases Unit, Wellcome-MRC Institute of Metabolic Science, Metabolic Research Laboratories, University of Cambridge, Cambridge, U.K., Bonnefond A; Department of Metabolism, Digestion and Reproduction, Imperial College London, London, U.K.; INSERM UMR 1283, CNRS UMR 8199, European Genomic Institute for Diabetes, Institut Pasteur de Lille, Lille, France.; University of Lille, Lille University Hospital, Lille, France., Arslan M; School of Life Sciences, Forman Christian College, Lahore, Pakistan., Froguel P; Department of Metabolism, Digestion and Reproduction, Imperial College London, London, U.K.; INSERM UMR 1283, CNRS UMR 8199, European Genomic Institute for Diabetes, Institut Pasteur de Lille, Lille, France.; University of Lille, Lille University Hospital, Lille, France.
Source: Diabetes [Diabetes] 2023 Sep 01; Vol. 72 (9), pp. 1228-1234.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: American Diabetes Association Country of Publication: United States NLM ID: 0372763 Publication Model: Print Cited Medium: Internet ISSN: 1939-327X (Electronic) Linking ISSN: 00121797 NLM ISO Abbreviation: Diabetes Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Biallelic Mutations in P4HTM Cause Syndromic Obesity.
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  Data: <searchLink fieldCode="AU" term="%22Saeed+S%22">Saeed S</searchLink>; Department of Metabolism, Digestion and Reproduction, Imperial College London, London, U.K.; INSERM UMR 1283, CNRS UMR 8199, European Genomic Institute for Diabetes, Institut Pasteur de Lille, Lille, France.; University of Lille, Lille University Hospital, Lille, France.<br /><searchLink fieldCode="AU" term="%22Ning+L%22">Ning L</searchLink>; INSERM UMR 1283, CNRS UMR 8199, European Genomic Institute for Diabetes, Institut Pasteur de Lille, Lille, France.; University of Lille, Lille University Hospital, Lille, France.<br /><searchLink fieldCode="AU" term="%22Badreddine+A%22">Badreddine A</searchLink>; INSERM UMR 1283, CNRS UMR 8199, European Genomic Institute for Diabetes, Institut Pasteur de Lille, Lille, France.; University of Lille, Lille University Hospital, Lille, France.<br /><searchLink fieldCode="AU" term="%22Mirza+MU%22">Mirza MU</searchLink>; Department of Chemistry and Biochemistry, University of Windsor, Windsor, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Boissel+M%22">Boissel M</searchLink>; Department of Metabolism, Digestion and Reproduction, Imperial College London, London, U.K.; INSERM UMR 1283, CNRS UMR 8199, European Genomic Institute for Diabetes, Institut Pasteur de Lille, Lille, France.; University of Lille, Lille University Hospital, Lille, France.<br /><searchLink fieldCode="AU" term="%22Khanam+R%22">Khanam R</searchLink>; School of Life Sciences, Forman Christian College, Lahore, Pakistan.<br /><searchLink fieldCode="AU" term="%22Manzoor+J%22">Manzoor J</searchLink>; Department of Paediatric Endocrinology, Children's Hospital, Lahore, Pakistan.<br /><searchLink fieldCode="AU" term="%22Janjua+QM%22">Janjua QM</searchLink>; Department of Physiology and Biophysics, National University of Science and Technology, Sohar, Oman.<br /><searchLink fieldCode="AU" term="%22Khan+WI%22">Khan WI</searchLink>; The Children Hospital and the Institute of Child Health, Multan, Pakistan.<br /><searchLink fieldCode="AU" term="%22Toussaint+B%22">Toussaint B</searchLink>; INSERM UMR 1283, CNRS UMR 8199, European Genomic Institute for Diabetes, Institut Pasteur de Lille, Lille, France.; University of Lille, Lille University Hospital, Lille, France.<br /><searchLink fieldCode="AU" term="%22Vaillant+E%22">Vaillant E</searchLink>; INSERM UMR 1283, CNRS UMR 8199, European Genomic Institute for Diabetes, Institut Pasteur de Lille, Lille, France.; University of Lille, Lille University Hospital, Lille, France.<br /><searchLink fieldCode="AU" term="%22Amanzougarene+S%22">Amanzougarene S</searchLink>; INSERM UMR 1283, CNRS UMR 8199, European Genomic Institute for Diabetes, Institut Pasteur de Lille, Lille, France.; University of Lille, Lille University Hospital, Lille, France.<br /><searchLink fieldCode="AU" term="%22Derhourhi+M%22">Derhourhi M</searchLink>; INSERM UMR 1283, CNRS UMR 8199, European Genomic Institute for Diabetes, Institut Pasteur de Lille, Lille, France.; University of Lille, Lille University Hospital, Lille, France.<br /><searchLink fieldCode="AU" term="%22Trant+JF%22">Trant JF</searchLink>; Department of Chemistry and Biochemistry, University of Windsor, Windsor, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Siegert+AM%22">Siegert AM</searchLink>; Medical Research Council Metabolic Diseases Unit, Wellcome-MRC Institute of Metabolic Science, Metabolic Research Laboratories, University of Cambridge, Cambridge, U.K.<br /><searchLink fieldCode="AU" term="%22Lam+BYH%22">Lam BYH</searchLink>; Medical Research Council Metabolic Diseases Unit, Wellcome-MRC Institute of Metabolic Science, Metabolic Research Laboratories, University of Cambridge, Cambridge, U.K.<br /><searchLink fieldCode="AU" term="%22Yeo+GSH%22">Yeo GSH</searchLink>; Medical Research Council Metabolic Diseases Unit, Wellcome-MRC Institute of Metabolic Science, Metabolic Research Laboratories, University of Cambridge, Cambridge, U.K.<br /><searchLink fieldCode="AU" term="%22Chabraoui+L%22">Chabraoui L</searchLink>; Laboratory of Biochemistry and Molecular Biology, Faculty of Medicine and Pharmacy, Mohammed V University, Rabat, Morocco.<br /><searchLink fieldCode="AU" term="%22Touzani+A%22">Touzani A</searchLink>; Children's Hospital of Rabat and Laboratory of Biochemistry and Molecular Biology, Faculty of Medicine and Pharmacy, Mohammed V University, Rabat, Morocco.<br /><searchLink fieldCode="AU" term="%22Kulkarni+A%22">Kulkarni A</searchLink>; Department of Paediatric Endocrinology, Sir H. 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Reliance Foundation, SRCC Children's Hospital, Mumbai, India.<br /><searchLink fieldCode="AU" term="%22Farooqi+IS%22">Farooqi IS</searchLink>; Medical Research Council Metabolic Diseases Unit, Wellcome-MRC Institute of Metabolic Science, Metabolic Research Laboratories, University of Cambridge, Cambridge, U.K.<br /><searchLink fieldCode="AU" term="%22Bonnefond+A%22">Bonnefond A</searchLink>; Department of Metabolism, Digestion and Reproduction, Imperial College London, London, U.K.; INSERM UMR 1283, CNRS UMR 8199, European Genomic Institute for Diabetes, Institut Pasteur de Lille, Lille, France.; University of Lille, Lille University Hospital, Lille, France.<br /><searchLink fieldCode="AU" term="%22Arslan+M%22">Arslan M</searchLink>; School of Life Sciences, Forman Christian College, Lahore, Pakistan.<br /><searchLink fieldCode="AU" term="%22Froguel+P%22">Froguel P</searchLink>; Department of Metabolism, Digestion and Reproduction, Imperial College London, London, U.K.; INSERM UMR 1283, CNRS UMR 8199, European Genomic Institute for Diabetes, Institut Pasteur de Lille, Lille, France.; University of Lille, Lille University Hospital, Lille, France.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22American+Diabetes+Association%22">American Diabetes Association </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>0372763 <i>Publication Model: </i>Print <i>Cited Medium: </i>Internet <i>ISSN: </i>1939-327X (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200121797%22">00121797 </searchLink><i>NLM ISO Abbreviation: </i>Diabetes <i>Subsets: </i>MEDLINE
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