- INSL3
Insulin-like 3 (Leydig cell), also known as INSL3, is a human
gene .cite web | title = Entrez Gene: INSL3 insulin-like 3 (Leydig cell)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3640| accessdate = ]PBB_Summary
section_title =
summary_text = The protein encoded by this gene is an insulin like hormone produced mainly in gonadal tissues in males and females. Studies of the mouse counterpart suggest that this gene may be involved in the development of urogenital tract and female fertility. It may also act as a hormone to regulate growth and differentiation of gubernaculum, and thus mediating intra-abdominal testicular descent. The mutations in this gene may lead to, but not a frequent cause of, cryptorchidism.cite web | title = Entrez Gene: INSL3 insulin-like 3 (Leydig cell)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3640| accessdate = ]References
Further reading
PBB_Further_reading
citations =
*cite journal | author=Lai KS, Jin Y, Graham DK, "et al." |title=A kinase-deficient splice variant of the human JAK3 is expressed in hematopoietic and epithelial cancer cells. |journal=J. Biol. Chem. |volume=270 |issue= 42 |pages= 25028–36 |year= 1995 |pmid= 7559633 |doi=
*cite journal | author=Macchi P, Villa A, Giliani S, "et al." |title=Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID). |journal=Nature |volume=377 |issue= 6544 |pages= 65–8 |year= 1995 |pmid= 7659163 |doi= 10.1038/377065a0
*cite journal | author=Tashima LS, Hieber AD, Greenwood FC, Bryant-Greenwood GD |title=The human Leydig insulin-like (hLEY I-L) gene is expressed in the corpus luteum and trophoblast. |journal=J. Clin. Endocrinol. Metab. |volume=80 |issue= 2 |pages= 707–10 |year= 1995 |pmid= 7852540 |doi=
*cite journal | author=Burkhardt E, Adham IM, Brosig B, "et al." |title=Structural organization of the porcine and human genes coding for a Leydig cell-specific insulin-like peptide (LEY I-L) and chromosomal localization of the human gene (INSL3). |journal=Genomics |volume=20 |issue= 1 |pages= 13–9 |year= 1994 |pmid= 8020942 |doi= 10.1006/geno.1994.1121
*cite journal | author=Witthuhn BA, Silvennoinen O, Miura O, "et al." |title=Involvement of the Jak-3 Janus kinase in signalling by interleukins 2 and 4 in lymphoid and myeloid cells. |journal=Nature |volume=370 |issue= 6485 |pages= 153–7 |year= 1994 |pmid= 8022486 |doi= 10.1038/370153a0
*cite journal | author=Kawamura M, McVicar DW, Johnston JA, "et al." |title=Molecular cloning of L-JAK, a Janus family protein-tyrosine kinase expressed in natural killer cells and activated leukocytes. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=91 |issue= 14 |pages= 6374–8 |year= 1994 |pmid= 8022790 |doi=
*cite journal | author=Burkhardt E, Adham IM, Hobohm U, "et al." |title=A human cDNA coding for the Leydig insulin-like peptide (Ley I-L). |journal=Hum. Genet. |volume=94 |issue= 1 |pages= 91–4 |year= 1994 |pmid= 8034302 |doi=
*cite journal | author=Adham IM, Burkhardt E, Benahmed M, Engel W |title=Cloning of a cDNA for a novel insulin-like peptide of the testicular Leydig cells. |journal=J. Biol. Chem. |volume=268 |issue= 35 |pages= 26668–72 |year= 1994 |pmid= 8253799 |doi=
*cite journal | author=Verbsky JW, Bach EA, Fang YF, "et al." |title=Expression of Janus kinase 3 in human endothelial and other non-lymphoid and non-myeloid cells. |journal=J. Biol. Chem. |volume=271 |issue= 24 |pages= 13976–80 |year= 1996 |pmid= 8662778 |doi=
*cite journal | author=Candotti F, Oakes SA, Johnston JA, "et al." |title=Structural and functional basis for JAK3-deficient severe combined immunodeficiency. |journal=Blood |volume=90 |issue= 10 |pages= 3996–4003 |year= 1997 |pmid= 9354668 |doi=
*cite journal | author=Bozzi F, Lefranc G, Villa A, "et al." |title=Molecular and biochemical characterization of JAK3 deficiency in a patient with severe combined immunodeficiency over 20 years after bone marrow transplantation: implications for treatment. |journal=Br. J. Haematol. |volume=102 |issue= 5 |pages= 1363–6 |year= 1998 |pmid= 9753072 |doi=
*cite journal | author=Nef S, Parada LF |title=Cryptorchidism in mice mutant for Insl3. |journal=Nat. Genet. |volume=22 |issue= 3 |pages= 295–9 |year= 1999 |pmid= 10391220 |doi= 10.1038/10364
*cite journal | author=Büllesbach EE, Rhodes R, Rembiesa B, Schwabe C |title=The relaxin-like factor is a hormone. |journal=Endocrine |volume=10 |issue= 2 |pages= 167–9 |year= 1999 |pmid= 10451226 |doi=
*cite journal | author=Krausz C, Quintana-Murci L, Fellous M, "et al." |title=Absence of mutations involving the INSL3 gene in human idiopathic cryptorchidism. |journal=Mol. Hum. Reprod. |volume=6 |issue= 4 |pages= 298–302 |year= 2000 |pmid= 10729310 |doi=
*cite journal | author=Koskimies P, Virtanen H, Lindström M, "et al." |title=A common polymorphism in the human relaxin-like factor (RLF) gene: no relationship with cryptorchidism. |journal=Pediatr. Res. |volume=47 |issue= 4 Pt 1 |pages= 538–41 |year= 2000 |pmid= 10759163 |doi=
*cite journal | author=Endo K, Takeshita T, Kasai H, "et al." |title=STAM2, a new member of the STAM family, binding to the Janus kinases. |journal=FEBS Lett. |volume=477 |issue= 1-2 |pages= 55–61 |year= 2000 |pmid= 10899310 |doi=
*cite journal | author=Schumacher RF, Mella P, Badolato R, "et al." |title=Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by single-strand conformation polymorphism. |journal=Hum. Genet. |volume=106 |issue= 1 |pages= 73–9 |year= 2000 |pmid= 10982185 |doi=
*cite journal | author=Tomboc M, Lee PA, Mitwally MF, "et al." |title=Insulin-like 3/relaxin-like factor gene mutations are associated with cryptorchidism. |journal=J. Clin. Endocrinol. Metab. |volume=85 |issue= 11 |pages= 4013–8 |year= 2000 |pmid= 11095425 |doi=
*cite journal | author=Hombach-Klonisch S, Buchmann J, Sarun S, "et al." |title=Relaxin-like factor (RLF) is differentially expressed in the normal and neoplastic human mammary gland. |journal=Cancer |volume=89 |issue= 11 |pages= 2161–8 |year= 2001 |pmid= 11147585 |doi=
*cite journal | author=Lim HN, Raipert-de Meyts E, Skakkebaek NE, "et al." |title=Genetic analysis of the INSL3 gene in patients with maldescent of the testis. |journal=Eur. J. Endocrinol. |volume=144 |issue= 2 |pages= 129–37 |year= 2001 |pmid= 11182749 |doi=PBB_Controls
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