Recombinant Human Follicle-stimulating hormone receptor (FSHR), partial

1. In the homozygous model (GG vs AA), the FSHRThr307Ala-Asn680Ser gene polymorphism might be a protective factor against male infertility. PMID:29738186
2. Results indicate the frequency distribution of the common follicle stimulating hormone receptor (FSHR) single-nucleotide polymorphisms (SNPs) in Mexican subjects of Hispanic origin. PMID:30340493
3. This study demonstrates that both gonadotrophin receptors9 FSH receptor (FSHR) and LH/choriogonadotrophin receptor (LHCGR) are expressed along the glandular epithelium of endometria and they mediate the effects of gonadotrophins on intracellular functions. PMID:29974367
4. rs6165 and rs6166 genotypes associated with in vitro fertilization outcome PMID:29916276
5. High FSHR expression is associated with polycystic ovary syndrome. PMID:29626103
6. The paper reviews the data concerning the appearance of ectopic FSHR in particular human neoplasms. The possible involvement of FSHR in tumor progression and the use of FSHR for diagnostic/therapeutic purposes is also reviewed. PMID:29952426
7. Data provide evidence that FSHR expression is regulated by BDNF which affects its expression and post-translational modifications in granulosa cells. PMID:28282971
8. we observed that a genetic variant associated with FSHR activity may modulate the susceptibility to testicular germ cell cancer PMID:29179257
9. The results herein suggest that the FSHR polymorphism N680S is significantly associated with preterm birth in a Mexican-Mestizo population. PMID:28282771
10. FSHR single nucleotide polymorphism is associated with poor ovarian response in Egyptian women undergoing IVF procedure. PMID:28825151
11. Findings suggest that 680Ser-Ser/GG genotype and "GG/307Ala680Ser" haplotype increase the risk of endometriosis in fertile women, while "GA/307Ala680Asn" haplotype decreases the risk of endometriosis development and progression. PMID:29683332
12. The FSHR -29G/A polymorphism modulates FSH and, for the first time, LH serum levels and body mass index in normozoospermic men. PMID:28624859
13. FSH-FSHR signaling was shown to promote HUVEC angiogenesis and thereafter suggested to have an influential role in pregnancy. PMID:27848975
14. the novel homozygous FSHR variant observed in 2 siblings with Hypergonadotropic hypogonadism can expand the spectrum of FSHR mutations in humans. PMID:28591755
15. Follicle-stimulating hormone receptor single nucleotide polymorphisms are not associated with male infertility. PMID:28224403
16. the expression levels of placental FSHR mRNA and protein were significantly decreased in pregnancies complicated by preeclampsia. PMID:28534997
17. Polymorphisms of the FSH receptor is associated with normal morphology and genetic maturation (metaphase II) oocytes in dependence of genotypic variation polymorphisms. PMID:27994298
18. T cells redirected against FSHR(+) tumor cells with full-length FSH represent a promising therapeutic alternative against a broad range of ovarian malignancies, with negligible toxicity even in the presence of cognate targets in tumor-free ovaries PMID:27435394
19. Findings of this study suggest a significant association between FSHR gene p. Thr307Ala or p. Asn680Ser coding sequence change and PCOS. The variant homozygote genotype results in a higher risk of PCOS. PMID:28547204
20. The evaluation of sperm DNA fragmentation as a surrogate marker of sperm quality, and of the FSHR SNP rs6166 (p.N680S), might be useful to predict the response to FSH treatment in men with idiopathic infertility PMID:27329968
21. Mouse chondrocytes and human articular cartilage express functional FSHR. Moreover, FSH can act on chondrocytes and cause genetic changes. PMID:29133260
22. The mutation p.R59X in FSHR is causative for primary ovarian insufficiency by means of arresting folliculogenesis. PMID:29157895
23. two mutations, V(221)G and T(449)N, in the extracellular domain and transmembrane helix 3, of FSHR, respectively, are reported. PMID:27889471
24. The reduced fertilisation and pregnancy rate was associated with a lower LH receptor density and a lack of essential down-regulation of the FSH and LH receptor. PMID:28188844
25. This work demonstrates that the expression of FSHR and LHCGR can be induced in hGL5 cells but that the FSHR-dependent cAMP/PKA pathway is constitutively silenced, possibly to protect cells from FSHR-cAMP-PKA-induced apoptosis. PMID:27502035
26. The incidence of the Ser/Ser genotype was higher in patients with higher recombinant human follicle-stimulating hormone consumption. Based on our results, we hypothesize an association between the follicle-stimulating hormone receptor polymorphisms and a "hyporesponse" to exogenous follicle-stimulating hormone. PMID:26902430
27. The data suggest novel follicle-stimulating hormone receptor expression in endometriotic lesions, qualitatively and quantitatively different from that of normal endometrium. PMID:26704526
28. Novel mutations, c.419delA and c.1510C>T of the FSHR gene were associated with resistant ovarian syndrome. PMID:28397217
29. Association of the FSHR G-29A, 919A > G, 2039A > G polymorphisms with male infertility in Han-Chinese PMID:28764642
30. A polymorphism within the promoter of FSHR is determined to not be associated with ovarian reserve or response to controlled ovarian hyperstimulation. PMID:27448492
31. Description of a novel functional FSHR expression, where FSH-stimulated CYP19A1 expression and estrogen production in recto-vaginal endometriotic nodules (RVEN) are demonstrated. This locally FSH-induced estrogen production may contribute to the pathology, development, progression, and severity of RVEN . PMID:27224263
32. N680S FSHR gene polymorphism affects the efficacy of recombinant versus highly purified follicle-stimulating hormone. PMID:26959715
33. The results of this study demonstrate that the genetic combination of A/G for polymorphism c.2039 with G/G for polymorphism c.-29 of the FSHR gene is significantly associated with the highest number of collected oocytes (p = 0.03). This association was significant even after controlling for the effect of other clinical variables PMID:27817039
34. Data suggest that both sisters exhibiting primary ovarian failure are homozygous for a previously unreported missense mutation (c.1222G.T, p.Asp408Tyr) in the second transmembrane domain of FSHR; consanguinity in this Turkish family was reported. [CASE REPORT] PMID:26911863
35. The luteinizing hormone/human chorionic gonadotrophin receptor (LHCGR) variant N312S and the follicle-stimulating hormone receptor (FSHR) variant N680S can be utilized for the prediction of pregnancy chances in women undergoing IVF. PMID:26769719
36. The role of FSHR gene variants (SNPs in exon 10 (codon 307 and 680) and in the core promoter region (at position -29) and Ala189Val inactivating mutation) in Turkish infertile women PMID:26404793
37. Ala307Thr polymorphism in FSHR can be potentially associated to primary ovarian insufficiency development and can be considered as a screening marker in patients with ovarian failure signals. PMID:26291798
38. The Asn680Ser polymorphism within the FSHR gene was not associated with endometriosis and infertility. PMID:25935136
39. Our studies further confirmed reports that there were no significant associations between the FSHR Thr307Ala and Asn680Ser polymorphisms and male infertility risk. However, a combined FSHR genotype showed significant association with male infertility. PMID:26125757
40. Endothelial FSHR expression in breast cancer is associated with vascular remodeling at tumor periphery. PMID:25652007
41. The extracellular loop 2 (EL2) of FSH receptor (FSHR) plays a pivotal role in various events downstream of FSH stimulation. PMID:25791375
42. the hinge region and its adjacent domains have roles in binding and signaling patterns of the thyrotropin and follitropin receptor PMID:25340405
43. This study demonstrate that the two common FSHR polymorphisms FSHR 307 and FSHR 680 affect FSH-induced granulosa cell responses in human small antral follicles. PMID:25403644
44. Girls homozygous for FSHR -29AA (reduced FSH receptor expression) entered puberty 7.4 (2.5-12.4) months later than carriers of the common variants FSHR -29GG+GA. PMID:25231187
45. This is the first study to confirm the association of novel LHCGR and FSHR SNPs with PCOS. The differential association of LHCGR and FSHR variants with PCOS confirms the racial/ethnic contribution to their association with PCOS. PMID:25649397
46. Follicle-stimulating hormone receptor gene polymorphism at position 680 is associated with different ovarian responses to controlled ovarian hyperstimulation PMID:25132286
47. the present study suggested that the FSHR polymorphisms were not associated with an increased risk of polycystic ovary syndrome PMID:25218548
48. The distributions of FSHR polymorphisms may not have an effect on endometriosis development but they are associated with the severity of the disease. PMID:25502184
49. The role of the N680S FSHR polymorphism in ovarian response to ovarian stimulation. [Meta-analysis] PMID:25526787
50. A novel pathogenic variant in FSHR (c.1253T>G, p.Ile418Ser), inherited as an autosomal recessive trait from heterozygous parents responsible for premature ovarian failure. PMID:25875778

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HGNC: 3969

UNIGENE: Hs.1428

KEGG: hsa:2492

STRING: 9606.ENSP00000384708

OMIM: 136435