Relevance of different cellular models in determining the effects of mutations on SLC16A2/MCT8 thyroid hormone transporter function and genotype-phenotype correlation.

Capri, Yline; Friesema, Edith C H; Kersseboom, Simone; Touraine, Renaud; Monnier, Aurélie; Eymard-Pierre, Eléonore; Des Portes, Vincent; De Michele, Giusseppe; Brady, Angela F; Boespflug-Tanguy, Odile; Visser, Theo J; Vaurs-Barriere, Catherine

Capri, Yline; Friesema, Edith C H; Kersseboom, Simone; Touraine, Renaud; Monnier, Aurélie; Eymard-Pierre, Eléonore; Des Portes, Vincent; De Michele, Giusseppe; Brady, Angela F; Boespflug-Tanguy, Odile; Visser, Theo J; Vaurs-Barriere, Catherine.

Affiliation

Capri Y; INSERM/UMR 1103, CNRS 6293, GReD, Medical school, Clermont-Ferrand, France.

Hum Mutat ; 34(7): 1018-25, 2013 Jul.

Article in En | MEDLINE | ID: mdl-23568789

Subject(s)

Genetic Association Studies; Monocarboxylic Acid Transporters/genetics; Mutation; Psychomotor Disorders/genetics; Psychomotor Disorders/physiopathology; Adolescent; Cell Line, Tumor; Cells, Cultured; Child; Child, Preschool; Fibroblasts/metabolism; Humans; Male; Monocarboxylic Acid Transporters/metabolism; Severity of Illness Index; Symporters; Thyroid Hormones/metabolism

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Psychomotor Disorders / Monocarboxylic Acid Transporters / Genetic Association Studies / Mutation Type of study: Prognostic_studies Limits: Adolescent / Child / Child, preschool / Humans / Male Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2013 Type: Article Affiliation country: France

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