Truncation of POC1A associated with short stature and extreme insulin resistance.

Chen, Jian-Hua; Segni, Maria; Payne, Felicity; Huang-Doran, Isabel; Sleigh, Alison; Adams, Claire; Savage, David B; O'Rahilly, Stephen; Semple, Robert K; Barroso, Inês

Chen, Jian-Hua; Segni, Maria; Payne, Felicity; Huang-Doran, Isabel; Sleigh, Alison; Adams, Claire; Savage, David B; O'Rahilly, Stephen; Semple, Robert K; Barroso, Inês.

Afiliação

Chen JH; The University of Cambridge Metabolic Research Laboratories Wellcome Trust-MRC Institute of Metabolic Science, Cambridge, UK The National Institute for Health Research Cambridge Biomedical Research Centre Cambridge, UK Department of Pediatrics Sapienza University, Rome, Italy Metabolic Disease Group
Segni M; The University of Cambridge Metabolic Research Laboratories Wellcome Trust-MRC Institute of Metabolic Science, Cambridge, UK The National Institute for Health Research Cambridge Biomedical Research Centre Cambridge, UK Department of Pediatrics Sapienza University, Rome, Italy Metabolic Disease Group
Payne F; The University of Cambridge Metabolic Research Laboratories Wellcome Trust-MRC Institute of Metabolic Science, Cambridge, UK The National Institute for Health Research Cambridge Biomedical Research Centre Cambridge, UK Department of Pediatrics Sapienza University, Rome, Italy Metabolic Disease Group
Huang-Doran I; The University of Cambridge Metabolic Research Laboratories Wellcome Trust-MRC Institute of Metabolic Science, Cambridge, UK The National Institute for Health Research Cambridge Biomedical Research Centre Cambridge, UK Department of Pediatrics Sapienza University, Rome, Italy Metabolic Disease Group
Sleigh A; The University of Cambridge Metabolic Research Laboratories Wellcome Trust-MRC Institute of Metabolic Science, Cambridge, UK The National Institute for Health Research Cambridge Biomedical Research Centre Cambridge, UK Department of Pediatrics Sapienza University, Rome, Italy Metabolic Disease Group
Adams C; The University of Cambridge Metabolic Research Laboratories Wellcome Trust-MRC Institute of Metabolic Science, Cambridge, UK The National Institute for Health Research Cambridge Biomedical Research Centre Cambridge, UK Department of Pediatrics Sapienza University, Rome, Italy Metabolic Disease Group
Savage DB; The University of Cambridge Metabolic Research Laboratories Wellcome Trust-MRC Institute of Metabolic Science, Cambridge, UK The National Institute for Health Research Cambridge Biomedical Research Centre Cambridge, UK Department of Pediatrics Sapienza University, Rome, Italy Metabolic Disease Group
O'Rahilly S; The University of Cambridge Metabolic Research Laboratories Wellcome Trust-MRC Institute of Metabolic Science, Cambridge, UK The National Institute for Health Research Cambridge Biomedical Research Centre Cambridge, UK Department of Pediatrics Sapienza University, Rome, Italy Metabolic Disease Group
Semple RK; The University of Cambridge Metabolic Research Laboratories Wellcome Trust-MRC Institute of Metabolic Science, Cambridge, UK The National Institute for Health Research Cambridge Biomedical Research Centre Cambridge, UK Department of Pediatrics Sapienza University, Rome, Italy Metabolic Disease Group
Barroso I; The University of Cambridge Metabolic Research Laboratories Wellcome Trust-MRC Institute of Metabolic Science, Cambridge, UK The National Institute for Health Research Cambridge Biomedical Research Centre Cambridge, UK Department of Pediatrics Sapienza University, Rome, Italy Metabolic Disease Group

J Mol Endocrinol ; 55(2): 147-58, 2015 Oct.

Article em En | MEDLINE | ID: mdl-26336158

Assuntos

Estatura/genética; Centríolos/genética; Nanismo/genética; Resistência à Insulina/genética; Proteínas/genética; Adulto; Sequência de Aminoácidos; Ciclo Celular/genética; Proteínas de Ciclo Celular/genética; Centrossomo/fisiologia; Proteínas do Citoesqueleto; Fácies; Fígado Gorduroso/genética; Feminino; Mutação da Fase de Leitura/genética; Humanos; Mitose/genética; Dados de Sequência Molecular; Isoformas de Proteínas/genética; Alinhamento de Sequência; Fuso Acromático/fisiologia

Palavras-chave

POC1A; centriole; centrosome; diabetes; dyslipidaemia; insulin resistance; primary cilium; short stature; skeletal dysplasia

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Estatura / Resistência à Insulina / Proteínas / Centríolos / Nanismo Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adult / Female / Humans Idioma: En Revista: J Mol Endocrinol Assunto da revista: BIOLOGIA MOLECULAR / ENDOCRINOLOGIA Ano de publicação: 2015 Tipo de documento: Article

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