A novel thyrotropin receptor germline mutation (Asp617Tyr) causing hereditary hyperthyroidism

Endocrine Journal

Volumn 54, Issue 6, 2007, Pages 927-934

  Nishihara, Eijun ^a   Nagayama, Yuji ^b   Amino, Nobuyuki ^a   Hishinuma, Akira ^c   Takano, Toru ^d   Yoshida, Hiroshi ^a   Kubota, Sumihisa ^a   Fukata, Shuji ^a   Kuma, Kanji ^a   Miyauchi, Akira ^a  

^a KUMA HOSPITAL   (Japan)

^b NAGASAKI UNIVERSITY GRADUATE SCHOOL OF BIOMEDICAL SCIENCES   (Japan)

^c DOKKYO MEDICAL UNIVERSITY   (Japan)

^d OSAKA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

Adenylyl cyclase activation; Germline mutation; Nonautoimmune hyperthyroidism; Third intracellular loop; Thyrotropin receptor

Indexed keywords

ADENOSINE PHOSPHATE; AMINO ACID; ASPARTIC ACID; CYCLIC AMP; INOSITOL 1,4,5 TRISPHOSPHATE; INOSITOL PHOSPHATE; IODINE; LIOTHYRONINE; MUTANT PROTEIN; POTASSIUM IODIDE; RADIOACTIVE IODINE; THIAMAZOLE; THYROTROPIN RECEPTOR; THYROTROPIN RECEPTOR ANTIBODY; THYROXINE; TYROSINE;

ADULT; AMINO ACID SUBSTITUTION; ANAMNESIS; ARTICLE; BINDING AFFINITY; CASE REPORT; CLINICAL FEATURE; CODON; DISEASE COURSE; DISEASE SEVERITY; DRUG WITHDRAWAL; GENE MUTATION; GENE OVEREXPRESSION; GENETIC DISORDER; GENETIC SCREENING; GERM LINE; GOITER; HETEROZYGOSITY; HUMAN; HYPERTHYROIDISM; IN VITRO STUDY; LABORATORY TEST; LIVER DYSFUNCTION; RASH; THYROID FUNCTION TEST; TREATMENT DURATION; TREATMENT REFUSAL; URTICARIA;

ADULT; CYCLIC AMP; DNA; FEMALE; GERM-LINE MUTATION; HUMANS; HYPERTHYROIDISM; IMMUNOGLOBULINS, THYROID-STIMULATING; INOSITOL 1,4,5-TRISPHOSPHATE; MALE; MIDDLE AGED; PEDIGREE; POLYMERASE CHAIN REACTION; POTASSIUM IODIDE; RECEPTORS, THYROTROPIN; SEQUENCE ANALYSIS, DNA; THYROTROPIN; THYROXINE; TRIIODOTHYRONINE;

EID: 40449092268     PISSN: 09188959     EISSN: 13484540     Source Type: Journal    
DOI: 10.1507/endocrj.K07-088     Document Type: Article

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