Prevalent polymorphism in thyroid hormone-activating enzyme leaves a genetic fingerprint that underlies associated clinical syndromes

Journal of Clinical Endocrinology and Metabolism

Volumn 100, Issue 3, 2015, Pages 920-933

  McAninch, Elizabeth A ^a   Jo, Sungro ^a   Preite, Nailliw Z ^a   Farkas, Erzsébet ^b,c   Mohácsik, Petra ^b,d   Fekete, Csaba ^b,e   Egri, Péter ^b,d   Gereben, Balázs ^b   Li, Yan ^a   Deng, Youping ^a   Patti, Mary Elizabeth ^f   Zevenbergen, Chantal ^g   Peeters, Robin P ^g   Mash, Deborah C ^h   Bianco, Antonio C ^a  

^a RUSH UNIVERSITY MEDICAL CENTER   (United States)

^b INSTITUTE OF EXPERIMENTAL MEDICINE   (Hungary)

^c PÁZMÁNY PÉTER CATHOLIC UNIVERSITY   (Hungary)

^d SEMMELWEIS UNIVERSITY   (Hungary)

^e TUFTS MEDICAL CENTER   (United States)

^f HARVARD MEDICAL SCHOOL   (United States)

^g ERASMUS MEDICAL CENTER   (Netherlands)

^h UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

LIGASE; MITOCHONDRIAL PROTEIN; THYROID HORMONE ACTIVATING ENZYME; UBIQUITIN; UNCLASSIFIED DRUG; ALANINE; IODIDE PEROXIDASE; IODOTHYRONINE DEIODINASE TYPE II; THREONINE; TRANSCRIPTOME;

AMINO ACID SUBSTITUTION; APOPTOSIS; ARTICLE; AUTOPSY; BRAIN CORTEX; CELL FUNCTION; CENTRAL NERVOUS SYSTEM DISEASE; CONTROLLED STUDY; DEGENERATIVE DISEASE; DISEASE ASSOCIATION; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DNA FINGERPRINTING; DNA REPAIR; DOWN REGULATION; GENE EXPRESSION REGULATION; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC REGULATION; GENETIC TRANSCRIPTION; GENOTYPE; GOLGI COMPLEX; HEK293 CELL LINE; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; HUNTINGTON CHOREA; INFLAMMATION; MALE; MICROARRAY ANALYSIS; OXIDATIVE STRESS; PRIORITY JOURNAL; PROTEIN EXPRESSION; SIGNAL TRANSDUCTION; ADULT; CASE CONTROL STUDY; GENE FREQUENCY; GENETICS; HELA CELL LINE; METABOLISM; NEUROLOGIC DISEASE; PATHOLOGY; SINGLE NUCLEOTIDE POLYMORPHISM; SYNDROME; THYROID DISEASE;

ADULT; ALANINE; AMINO ACID SUBSTITUTION; CASE-CONTROL STUDIES; CEREBRAL CORTEX; GENE FREQUENCY; HEK293 CELLS; HELA CELLS; HUMANS; IODIDE PEROXIDASE; MALE; MICROARRAY ANALYSIS; NERVOUS SYSTEM DISEASES; OXIDATIVE STRESS; POLYMORPHISM, SINGLE NUCLEOTIDE; SYNDROME; THREONINE; THYROID DISEASES; TRANSCRIPTOME;

EID: 84924941823     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2014-4092     Document Type: Article

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