Mutations of the thyroid hormone transporter MCT8 cause prenatal brain damage and persistent hypomyelination

Journal of Clinical Endocrinology and Metabolism

Volumn 99, Issue 12, 2014, Pages E2799-E2804

  López Espíndola, Daniela ^a,b   Morales Bastos, Carmen ^c   Grijota Martínez, Carmen ^a,d   Liao, Xiao Hui ^e   Lev, Dorit ^h   Sugo, Ella ⁱ   Verge, Charles F ^j,k   Refetoff, Samuel ^e,f,g   Bernal, Juan ^a,d   Guadaño Ferraz, Ana ^a  

^a UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

^b UNIVERSIDAD DE VALPARAÍSO   (Chile)

^c HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^d CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^e UNIVERSITY OF CHICAGO   (United States)

^f UNIVERSITY OF CHICAGO   (United States)

^g UNIVERSITY OF CHICAGO   (United States)

^h WOLFSON MEDICAL CENTER   (Israel)

ⁱ PRINCE OF WALES HOSPITAL   (Australia)

^j SYDNEY CHILDREN'S HOSPITAL   (Australia)

^k UNIVERSITY OF NEW SOUTH WALES   (Australia)

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Author keywords

[No Author keywords available]

Indexed keywords

CALBINDIN; CARRIER PROTEIN; EOSIN; HEMATOXYLIN; MONOCARBOXYLATE TRANSPORTER 8; MYELIN; MYELIN BASIC PROTEIN; NEUROFILAMENT PROTEIN; PARVALBUMIN; SYNAPTOPHYSIN; THYROID HORMONE; THYROXINE DEIODINASE; IODIDE PEROXIDASE; MONOCARBOXYLATE TRANSPORTER; SLC16A2 PROTEIN, HUMAN;

AGE; ARTICLE; BRAIN CORTEX; BRAIN DAMAGE; BRAIN DEVELOPMENT; BRAIN TISSUE; CASE REPORT; CELL DIFFERENTIATION; CHILD; CONTROLLED STUDY; FEMALE; FETUS; GENE MUTATION; GESTATIONAL AGE; HORMONE TRANSPORT; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MALE; MCT8 GENE; MYELIN DEFICIENCY; MYELINATION; NERVE CELL; NERVE FIBER GROWTH; NEUROPATHOLOGY; PATHOGENESIS; POLYMERASE CHAIN REACTION; PRENATAL PERIOD; PROTEIN EXPRESSION; PURKINJE CELL; QUANTITATIVE ANALYSIS; SCHOOL CHILD; ADULT; BRAIN; BRAIN DAMAGE, CHRONIC; CEREBELLUM; DEFICIENCY; GENETICS; GROWTH, DEVELOPMENT AND AGING; MUTATION; MYELIN SHEATH; NERVOUS SYSTEM DEVELOPMENT; PATHOLOGY; PREGNANCY;

ADULT; BRAIN; BRAIN DAMAGE, CHRONIC; CELL DIFFERENTIATION; CEREBELLUM; CEREBRAL CORTEX; CHILD; FEMALE; HUMANS; IODIDE PEROXIDASE; MALE; MONOCARBOXYLIC ACID TRANSPORTERS; MUTATION; MYELIN SHEATH; NEUROGENESIS; NEURONS; PREGNANCY; THYROID HORMONES;

EID: 84916637399     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2014-2162     Document Type: Article

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