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Titolo:
MUTATIONS OF THYROTROPIN RECEPTOR GENE
Autore:
PORCELLINI A; FENZI G; AVVEDIMENTO EV;
Indirizzi:
UNIV REGGIO CALABRIA,FAC MED,DIPARTIMENTO MED SPERIMENTALE,VIA TOMMASO CAMPANELLA I-88100 CATANZARO ITALY UNIV REGGIO CALABRIA,FAC MED,DIPARTIMENTO MED SPERIMENTALE I-88100 CATANZARO ITALY UNIV NAPLES FEDERICO II,FAC MED,DIPARTIMENTO BIOL & PATOL MOL & CELLULARE L CALIF I-80131 NAPLES ITALY UNIV NAPLES FEDERICO II,FAC MED,DIPARTIMENTO ENDOCRINOL I-80131 NAPLES ITALY
Titolo Testata:
Journal of molecular medicine
fascicolo: 8, volume: 75, anno: 1997,
pagine: 567 - 575
SICI:
0946-2716(1997)75:8<567:MOTRG>2.0.ZU;2-D
Fonte:
ISI
Lingua:
ENG
Soggetto:
PROTEIN-COUPLED RECEPTORS; HYPERFUNCTIONING THYROID ADENOMAS; HUMAN CHORIONIC-GONADOTROPIN; TSH-RECEPTOR; SOMATIC MUTATIONS; FACTOR CREB; CONSTITUTIVE ACTIVITY; EXTRACELLULAR DOMAIN; BINDING-PROTEIN; POINT MUTATION;
Keywords:
THYROID; TSH RECEPTOR; THYROTROPIN; G PROTEINS; CAMP SIGNALING;
Tipo documento:
Review
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
66
Recensione:
Indirizzi per estratti:
Citazione:
A. Porcellini et al., "MUTATIONS OF THYROTROPIN RECEPTOR GENE", Journal of molecular medicine, 75(8), 1997, pp. 567-575

Abstract

Thyrotropin is the primary pituitary hormone which stimulates the growth and differentiation of thyroid cells. TSH binds a specific receptor present in the plasma membrane of thyroid cells and signals the G protein transducers, which activate different effectors, mainly adenyl cyclase and phospholipase C. The TSH receptor belongs to a broad class of receptors known as seven-loop receptors because they contain a longstretch of amino acids which cross the plasma membrane seven times. Mutations in the TSH receptor gene have been found in hyperfunctioning thyroid adenomas. These mutations are: (a) somatic (present only in the tumor), (b) dominant (only one copy of the gene is affected), and (c) lead to the constitutive activation of the cAMP signaling cascade. Most mutations,which have been identified occur in the intracellular loop III and in the transmembrane domain VI. Germline mutations in the same regions of the receptor have been found in congenital nonautoimmune hyperthyroidism. In addition, germ line mutations have been described in the extracellular domain of the receptor leading to increased TSHlevels. The clinical implications of these findings are discussed.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 07/07/20 alle ore 21:19:55