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Titolo:
Insulin-like 3/relaxin-like factor gene mutations are associated with cryptorchidism
Autore:
Tomboc, M; Lee, PA; Mitwally, MF; Schneck, FX; Bellinger, M; Witchel, SF;
Indirizzi:
Univ Pittsburgh, Childrens Hosp Pittsburgh, Div Pediat Endocrinol, Pittsburgh, PA 15213 USA Univ Pittsburgh Pittsburgh PA USA 15213 ocrinol, Pittsburgh, PA 15213 USA Penn State Univ, Sch Med, Dept Pediat, Hershey, PA USA Penn State Univ Hershey PA USA iv, Sch Med, Dept Pediat, Hershey, PA USA Univ Pittsburgh, Sch Med, Dept Urol Surg, Pittsburgh, PA 15261 USA Univ Pittsburgh Pittsburgh PA USA 15261 ol Surg, Pittsburgh, PA 15261 USA
Titolo Testata:
JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM
fascicolo: 11, volume: 85, anno: 2000,
pagine: 4013 - 4018
SICI:
0021-972X(200011)85:11<4013:I3FGMA>2.0.ZU;2-8
Fonte:
ISI
Lingua:
ENG
Soggetto:
RELAXIN-LIKE FACTOR; MULLERIAN DUCT SYNDROME; I-L GENE; TESTICULAR DESCENT; CARCINOMA INSITU; NUCLEAR RECEPTOR; LEYDIG-CELLS; EXPRESSION; TESTIS; PEPTIDE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
41
Recensione:
Indirizzi per estratti:
Indirizzo: Witchel, SF Univ Pittsburgh, Childrens Hosp Pittsburgh, Div Pediat Endocrinol, 3705 5th Ave, Pittsburgh, PA 15213 USA Univ Pittsburgh 3705 5th Ave Pittsburgh PA USA 15213 15213 USA
Citazione:
M. Tomboc et al., "Insulin-like 3/relaxin-like factor gene mutations are associated with cryptorchidism", J CLIN END, 85(11), 2000, pp. 4013-4018

Abstract

Cryptorchidism is a common anomaly of male sexual differentiation. Two phases of testicular descent are recognized, transabdominal and inguinoscrotal. With evidence that androgens and Mullerian inhibitory hormone were not completely responsible for testicular descent, the existence of a third testicular hormone mediating testicular descent was postulated. Insulin-like 3 (INSL3) [also known as relaxin-like factor (RLF) and Leydig insulin-like protein (LEY I-L)] is a member of the insulin/relaxin hormone superfamily thatis highly expressed in Leydig cells. The phenotype of transgenic mice withtargeted deletion of the Insl3 gene was bilateral cryptorchidism with morphological evidence of abnormal gubernacular development. With this implicitevidence that Insl3 mediates testicular descent in mice, we performed mutation detection analysis of the coding regions of the 2 exon INSL3 gene in genomic DNA samples obtained from 145 formerly cryptorchid patients and 36 adult male controls. Single-strand conformational polymorphism analysis was used for the mutation detection studies. Two mutations, R49X and P69L, and several polymorphisms were identified. Both mutations were located in the connecting peptide region of the protein. The frequency of INSL3/RLF gene mutations as a cause of cryptorchidism is low, because only 2 of 145 (1.4%) formerly cryptorchid patients were found to have mutations.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 01/12/20 alle ore 22:48:17