Relevance of Different Cellular Models in Determining the Effects of Mutations on SLC16A2/MCT8 Thyroid Hormone Transporter Function and Genotype-Phenotype Correlation

Human Mutation

Volumn 34, Issue 7, 2013, Pages 1018-1025

  Capri, Yline ^a,b,c   Friesema, Edith C H ^d   Kersseboom, Simone ^d   Touraine, Renaud ^e   Monnier, Aurélie ^a,f   Eymard Pierre, Eléonore ^a,f   Des Portes, Vincent ^g   De Michele, Giusseppe ^h   Brady, Angela F ⁱ   Boespflug Tanguy, Odile ^b,c   Visser, Theo J ^d   Vaurs Barriere, Catherine ^a,j  

^a INSERM   (France)

^b HÔPITAL ROBERT DEBRÉ   (France)

^c UNIVERSITÉ PARIS DESCARTES   (France)

^d ERASMUS MEDICAL CENTER   (Netherlands)

^e UNIVERSITY HOSPITAL OF SAINT ETIENNE   (France)

^f UNIVERSITY HOSPITAL OF CLERMONT FERRAND   (France)

^g HÔPITAL DEBROUSSE   (France)

^h UNIVERSITY OF NAPLES FEDERICO II   (Italy)

ⁱ NORTHWICK PARK HOSPITAL   (United Kingdom)

^j UNIVERSITÉ CLERMONT AUVERGNE   (France)

more..

Author keywords

MCT8; Monocarboxylate transporter 8; SLC16A2; Thyroid hormone

Indexed keywords

ADOLESCENT; ARTICLE; CELL LINE; CHILD; CLINICAL ARTICLE; FIBROBLAST; GENE; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC TRANSFECTION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INFANT; MONOCARBOXYLATE TRANSPORTER 8 GENE; PATHOGENICITY; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD;

ADOLESCENT; CELL LINE, TUMOR; CELLS, CULTURED; CHILD; CHILD, PRESCHOOL; FIBROBLASTS; GENETIC ASSOCIATION STUDIES; HUMANS; MALE; MONOCARBOXYLIC ACID TRANSPORTERS; MUTATION; PSYCHOMOTOR DISORDERS; SEVERITY OF ILLNESS INDEX; THYROID HORMONES;

EID: 84879416326     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22331     Document Type: Article

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