Functional characterization of four novel PAX8 mutations causing congenital hypothyroidism: New evidence for haploinsufficiency as a disease mechanism

European Journal of Endocrinology

Volumn 167, Issue 5, 2012, Pages 625-632

  Narumi, Satoshi ^a   Araki, Shunsuke ^b   Hori, Naoaki ^c   Muroya, Koji ^d   Yamamoto, Yukiyo ^b   Asakura, Yumi ^d   Adachi, Masanori ^d   Hasegawa, Tomonobu ^a  

^a KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b UNIVERSITY OF OCCUPATIONAL AND ENVIRONMENTAL HEALTH   (Japan)

^c Department of Otolaryngology   (Japan)

^d KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

THYROGLOBULIN; THYROTROPIN; THYROXINE; TRANSCRIPTION FACTOR PAX8;

ADULT; ARTICLE; BINDING AFFINITY; BINDING SITE; CHILD; CONGENITAL HYPOTHYROIDISM; CONTROLLED STUDY; DNA BINDING; DNA SEQUENCE; DRUG EFFECT; DRUG RESPONSE; ECHOGRAPHY; FAMILY HISTORY; FEMALE; FRAMESHIFT MUTATION; GENE; GENE FUNCTION; GENETIC ASSOCIATION; HAPLOINSUFFICIENCY; HETEROZYGOTE DETECTION; HORMONE BLOOD LEVEL; HUMAN; HUMAN CELL; IN VITRO STUDY; MALE; MOLECULAR DYNAMICS; MOLECULAR PATHOLOGY; NEWBORN SCREENING; NUCLEOTIDE SEQUENCE; OUTCOME ASSESSMENT; PAX8 GENE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION; SCHOOL CHILD; SEQUENCE ANALYSIS; THYROID DYSGENESIS; TRANSACTIVATION;

ADULT; BLOTTING, WESTERN; CELL CULTURE TECHNIQUES; CHILD; CHILD, PRESCHOOL; CONGENITAL HYPOTHYROIDISM; ELECTROPHORETIC MOBILITY SHIFT ASSAY; FEMALE; FRAMESHIFT MUTATION; HAPLOINSUFFICIENCY; HUMANS; INFANT; MALE; MUTATION; MUTATION, MISSENSE; PAIRED BOX TRANSCRIPTION FACTORS; PLASMIDS; THYROID DYSGENESIS; THYROID GLAND; TRANSCRIPTIONAL ACTIVATION; TRANSFECTION;

EID: 84867487106     PISSN: 08044643     EISSN: 1479683X     Source Type: Journal    
DOI: 10.1530/EJE-12-0410     Document Type: Article

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