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Titolo:
MUTATION IN THE FOLLICLE-STIMULATING-HORMONE RECEPTOR GENE CAUSES HEREDITARY HYPERGONADOTROPIC OVARIAN FAILURE
Autore:
AITTOMAKI K; LUCENA JLD; PAKARINEN P; SISTONEN P; TAPANAINEN J; GROMOLL J; KASKIKARI R; SANKILA EM; LEHVASLAIHO H; ENGEL AR; NIESCHLAG E; HUHTANIEMI I; DELACHAPELLE A;
Indirizzi:
UNIV HELSINKI,DEPT MED GENET,HAARTMANINKATU 3 SF-00290 HELSINKI FINLAND UNIV TURKU,DEPT PHYSIOL SF-20520 TURKU FINLAND FINNISH RED CROSS & BLOOD TRANSFUS SERV SF-00310 HELSINKI FINLAND UNIV OULU,CENT HOSP,DEPT OBSTET & GYNECOL SF-90220 OULU FINLAND UNIV MUNSTER,INST REPROD MED D-48149 MUNSTER GERMANY UNIV MALAGA,FAC MED,DEPT BIOCHEM & MOLEC BIOL E-29080 MALAGA SPAIN UNIV HELSINKI,CENT HOSP,DEPT CLIN GENET SF-00290 HELSINKI FINLAND UNIV HELSINKI,CENT HOSP,DEPT OBSTET & GYNECOL SF-00290 HELSINKI FINLAND
Titolo Testata:
Cell
fascicolo: 6, volume: 82, anno: 1995,
pagine: 959 - 968
SICI:
0092-8674(1995)82:6<959:MITFRG>2.0.ZU;2-N
Fonte:
ISI
Lingua:
ENG
Soggetto:
LUTEINIZING-HORMONE; MOLECULAR-CLONING; GONADOTROPIN-DEFICIENCY; CHORIONIC-GONADOTROPIN; FUNCTIONAL EXPRESSION; PRECOCIOUS PUBERTY; CYCLIC-AMP; CDNA; RAT; LOCALIZATION;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
64
Recensione:
Indirizzi per estratti:
Citazione:
K. Aittomaki et al., "MUTATION IN THE FOLLICLE-STIMULATING-HORMONE RECEPTOR GENE CAUSES HEREDITARY HYPERGONADOTROPIC OVARIAN FAILURE", Cell, 82(6), 1995, pp. 959-968

Abstract

Hypergonadotropic ovarian dysgenesis (ODG) with normal karyotype is aheterogeneous condition that in some cases displays Mendelian recessive inheritance, By systematically searching for linkage in multiplex affected families, we mapped a locus for ODG to chromosome 2p, As the previously cloned follicle-stimulating hormone receptor (FSHR) gene hadbeen assigned to 2p, we searched it for mutations, A C566T transitionin exon 7 of FSHR predicting an Ala to Val substitution at residue 189 in the extracellular ligand-binding domain segregated perfectly withthe disease phenotype. Expression of the gene in transfected cells demonstrated a dramatic reduction of binding capacity and signal transduction, but apparently normal ligand-binding affinity of the mutated receptor. We conclude that the mutation causes ODG in these families.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 19/09/20 alle ore 12:50:37