Partial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and mice

Journal of Clinical Investigation

Volumn 109, Issue 4, 2002, Pages 469-473

  Pohlenz, Joachim ^a,b   Dumitrescu, Alexandra ^b,c   Zundel, Dorothee ^d   Martiné, Ursula ^a   Schönberger, Winfried ^a   Koo, Eugene ^b   Weiss, Roy E ^b   Cohen, Ronald N ^b   Kimura, Shioko ^e   Refetoff, Samuel ^b,c  

^a UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

^b Department of Medicine ^*  (United States)

^c UNIVERSITY OF CHICAGO   (United States)

^d Sozialpädiatrisches Zentrum   (Germany)

^e NATIONAL CANCER INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

THYROGLOBULIN; THYROID TRANSCRIPTION FACTOR 1; THYROTROPIN; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR PAX8; TRANSCRIPTION FACTOR TTF1; TRANSCRIPTION FACTOR TTF2; UNCLASSIFIED DRUG;

ALLELE; AMINO ACID SEQUENCE; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; BINDING SITE; CASE REPORT; CONGENITAL HYPOTHYROIDISM; CONTROLLED STUDY; DIENCEPHALON; DNA BINDING; DYSKINESIA; GENE AMPLIFICATION; GENE DELETION; GENE LOCUS; GENETIC DISORDER; GOITER; HEPATOBLASTOMA; HETEROZYGOSITY; HOMEOBOX; HUMAN; HUMAN CELL; HYPERTHYROTROPINEMIA; MALE; MOUSE; NEONATAL RESPIRATORY DISTRESS SYNDROME; NEUROLOGIC DISEASE; NONHUMAN; NONSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROMOTER REGION; REPORTER GENE; RETICULOCYTE LYSATE; THYROID DISEASE; THYROID GLAND; THYROTROPIN BLOOD LEVEL; TRANSACTIVATION;

EID: 0036175892     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI0214192     Document Type: Article

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