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An animal model for Pierpont syndrome: a mouse bearing the Tbl1xr1Y446C/Y446C mutation.

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Title: An animal model for Pierpont syndrome: a mouse bearing the Tbl1xr1Y446C/Y446C mutation.
Authors: Hu Y; Endocrine Laboratory, Department of Clinical Chemistry, Amsterdam Gastroenterology, Endocrinology & Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam 1105AZ, The Netherlands., Lauffer P; Department of Pediatric Endocrinology, Emma Children's Hospital, Amsterdam Gastroenterology, Endocrinology & Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam 1105AZ, The Netherlands., Stewart M; The Mary Lyon Centre, MRC Harwell, Harwell Campus, Oxfordshire OX11 0RD, UK., Codner G; The Mary Lyon Centre, MRC Harwell, Harwell Campus, Oxfordshire OX11 0RD, UK., Mayerl S; Department of Endocrinology, Diabetes and Metabolism, University Hospital Essen, University of Duisburg-Essen, Essen 45122, Germany., Heuer H; Department of Endocrinology, Diabetes and Metabolism, University Hospital Essen, University of Duisburg-Essen, Essen 45122, Germany., Ng L; Laboratory of Endocrinology and Receptor Biology, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA., Forrest D; Laboratory of Endocrinology and Receptor Biology, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA., van Trotsenburg P; Department of Pediatric Endocrinology, Emma Children's Hospital, Amsterdam Gastroenterology, Endocrinology & Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam 1105AZ, The Netherlands., Jongejan A; Bioinformatics Laboratory, Department of Epidemiology and Data Science, Amsterdam Public Health, Methodology Amsterdam, Amsterdam UMC, University of Amsterdam, Amsterdam 1105AZ, The Netherlands., Fliers E; Department of Endocrinology, Amsterdam Gastroenterology, Endocrinology & Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam 1105AZ, The Netherlands., Hennekam R; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam 1105AZ, The Netherlands., Boelen A; Endocrine Laboratory, Department of Clinical Chemistry, Amsterdam Gastroenterology, Endocrinology & Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam 1105AZ, The Netherlands.
Source: Human molecular genetics [Hum Mol Genet] 2022 Aug 25; Vol. 31 (17), pp. 2951-2963.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: An animal model for Pierpont syndrome: a mouse bearing the Tbl1xr1Y446C/Y446C mutation.
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  Data: <searchLink fieldCode="AU" term="%22Hu+Y%22">Hu Y</searchLink>; Endocrine Laboratory, Department of Clinical Chemistry, Amsterdam Gastroenterology, Endocrinology & Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam 1105AZ, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Lauffer+P%22">Lauffer P</searchLink>; Department of Pediatric Endocrinology, Emma Children's Hospital, Amsterdam Gastroenterology, Endocrinology & Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam 1105AZ, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Stewart+M%22">Stewart M</searchLink>; The Mary Lyon Centre, MRC Harwell, Harwell Campus, Oxfordshire OX11 0RD, UK.<br /><searchLink fieldCode="AU" term="%22Codner+G%22">Codner G</searchLink>; The Mary Lyon Centre, MRC Harwell, Harwell Campus, Oxfordshire OX11 0RD, UK.<br /><searchLink fieldCode="AU" term="%22Mayerl+S%22">Mayerl S</searchLink>; Department of Endocrinology, Diabetes and Metabolism, University Hospital Essen, University of Duisburg-Essen, Essen 45122, Germany.<br /><searchLink fieldCode="AU" term="%22Heuer+H%22">Heuer H</searchLink>; Department of Endocrinology, Diabetes and Metabolism, University Hospital Essen, University of Duisburg-Essen, Essen 45122, Germany.<br /><searchLink fieldCode="AU" term="%22Ng+L%22">Ng L</searchLink>; Laboratory of Endocrinology and Receptor Biology, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA.<br /><searchLink fieldCode="AU" term="%22Forrest+D%22">Forrest D</searchLink>; Laboratory of Endocrinology and Receptor Biology, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA.<br /><searchLink fieldCode="AU" term="%22van+Trotsenburg+P%22">van Trotsenburg P</searchLink>; Department of Pediatric Endocrinology, Emma Children's Hospital, Amsterdam Gastroenterology, Endocrinology & Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam 1105AZ, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Jongejan+A%22">Jongejan A</searchLink>; Bioinformatics Laboratory, Department of Epidemiology and Data Science, Amsterdam Public Health, Methodology Amsterdam, Amsterdam UMC, University of Amsterdam, Amsterdam 1105AZ, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Fliers+E%22">Fliers E</searchLink>; Department of Endocrinology, Amsterdam Gastroenterology, Endocrinology & Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam 1105AZ, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Hennekam+R%22">Hennekam R</searchLink>; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam 1105AZ, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Boelen+A%22">Boelen A</searchLink>; Endocrine Laboratory, Department of Clinical Chemistry, Amsterdam Gastroenterology, Endocrinology & Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam 1105AZ, The Netherlands.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22IRL+Press+at+Oxford+University+Press%22">IRL Press at Oxford University Press </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9208958 <i>Publication Model: </i>Print <i>Cited Medium: </i>Internet <i>ISSN: </i>1460-2083 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2209646906%22">09646906 </searchLink><i>NLM ISO Abbreviation: </i>Hum Mol Genet <i>Subsets: </i>MEDLINE
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              Text: 2022 Aug 25
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