Evidence That Non-Syndromic Familial Tall Stature Has an Oligogenic Origin Including Ciliary Genes.

Weiss, Birgit; Eberle, Birgit; Roeth, Ralph; de Bruin, Christiaan; Lui, Julian C; Paramasivam, Nagarajan; Hinderhofer, Katrin; van Duyvenvoorde, Hermine A; Baron, Jeffrey; Wit, Jan M; Rappold, Gudrun A

Weiss, Birgit; Eberle, Birgit; Roeth, Ralph; de Bruin, Christiaan; Lui, Julian C; Paramasivam, Nagarajan; Hinderhofer, Katrin; van Duyvenvoorde, Hermine A; Baron, Jeffrey; Wit, Jan M; Rappold, Gudrun A.

Afiliação

Weiss B; Department of Human Molecular Genetics, Institute of Human Genetics, Ruprecht Karls University Heidelberg, Heidelberg, Germany.
Eberle B; Department of Human Molecular Genetics, Institute of Human Genetics, Ruprecht Karls University Heidelberg, Heidelberg, Germany.
Roeth R; Department of Human Molecular Genetics, Institute of Human Genetics, Ruprecht Karls University Heidelberg, Heidelberg, Germany.
de Bruin C; Department of Pediatrics, Leiden University Medical Center, Leiden, Netherlands.
Lui JC; Section on Growth and Development, National Institute of Health, Bethesda, MD, United States.
Paramasivam N; Computational Oncology Group, Molecular Diagnostics Program at the National Center for Tumor Diseases (NCT) and German Cancer Research Center (DKFZ), Heidelberg, Germany.
Hinderhofer K; Institute of Human Genetics, Ruprecht Karls University Heidelberg, Heidelberg, Germany.
van Duyvenvoorde HA; Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands.
Baron J; Section on Growth and Development, National Institute of Health, Bethesda, MD, United States.
Wit JM; Department of Pediatrics, Leiden University Medical Center, Leiden, Netherlands.
Rappold GA; Department of Human Molecular Genetics, Institute of Human Genetics, Ruprecht Karls University Heidelberg, Heidelberg, Germany.

Front Endocrinol (Lausanne) ; 12: 660731, 2021.

Article em En | MEDLINE | ID: mdl-34194391

Assuntos

Estatura/genética; Proteínas de Transporte/genética; Proteínas de Ciclo Celular/genética; Proteínas do Citoesqueleto/genética; Transtornos do Crescimento/genética; Quinase 1 Relacionada a NIMA/genética; Tiossulfato Sulfurtransferase/genética; Adolescente; Animais; Criança; Pré-Escolar; Exoma; Feminino; Expressão Gênica; Lâmina de Crescimento/metabolismo; Humanos; Lactente; Recém-Nascido; Masculino; Camundongos; Países Baixos; Linhagem

Palavras-chave

ciliary genes; exome sequencing; growth; growth plate; non-syndromic tall stature; oligogenic inheritance

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Tiossulfato Sulfurtransferase / Estatura / Proteínas de Transporte / Proteínas de Ciclo Celular / Proteínas do Citoesqueleto / Quinase 1 Relacionada a NIMA / Transtornos do Crescimento Tipo de estudo: Prognostic_studies Limite: Adolescent / Animals / Child / Child, preschool / Female / Humans / Infant / Male / Newborn País/Região como assunto: Europa Idioma: En Revista: Front Endocrinol (Lausanne) Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Alemanha

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