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Titolo:
Absence of mutations involving the INSL3 gene in human idiopathic cryptorchidism
Autore:
Krausz, C; Quintana-Murci, L; Fellous, M; Siffroi, JP; McElreavey, K;
Indirizzi:
Inst Pasteur, INSERM U276, F-75724 Paris 15, France Inst Pasteur Paris France 15 teur, INSERM U276, F-75724 Paris 15, France Univ Florence, Androl Unit, Florence, Italy Univ Florence Florence Italy niv Florence, Androl Unit, Florence, Italy Hop Tenon, Lab Histol Biol Reprod & Cytogenet, F-75970 Paris, France Hop Tenon Paris France F-75970 Reprod & Cytogenet, F-75970 Paris, France
Titolo Testata:
MOLECULAR HUMAN REPRODUCTION
fascicolo: 4, volume: 6, anno: 2000,
pagine: 298 - 302
SICI:
1360-9947(200004)6:4<298:AOMITI>2.0.ZU;2-H
Fonte:
ISI
Lingua:
ENG
Soggetto:
LEY I-L; INSULIN-LIKE PEPTIDE; TESTICULAR DESCENT; TESTIS; CDNA; CELLS;
Keywords:
idiopathic cryptorchidism; INSL3; Leydig insulin-like hormone; polymorphism;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
28
Recensione:
Indirizzi per estratti:
Indirizzo: McElreavey, K Inst Pasteur, INSERM U276, 25 Rue Dr Roux, F-75724 Paris 15,France Inst Pasteur 25 Rue Dr Roux Paris France 15 aris 15, France
Citazione:
C. Krausz et al., "Absence of mutations involving the INSL3 gene in human idiopathic cryptorchidism", MOL HUM REP, 6(4), 2000, pp. 298-302

Abstract

The aetiology of cryptorchidism is for the most part unknown and appears to be multifactorial. Recently, a product of Leydig cells termed Leydig insulin-like hormone (INSL3) has been proposed as a putative trophic hormone ofthe first part of descent. Absence of Insl3 in male mice results in bilateral cryptorchidism and mutations involving this gene may be a cause of cryptorchidism in man. We sequenced both exons of the human INSL3 gene in 31 men who presented with idiopathic unilateral or bilateral cryptorchidism. Theonly sequence variant was an amino acid substitution in the C-peptide of the molecule. This change was also found in a control group of normal fertile men indicating that it is a polymorphism unrelated to the phenotype, These results suggest that mutations involving the human INSL3 gene are not a common cause of cryptorchidism in man.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 05/12/20 alle ore 12:59:06