FSHR

Summary

Gene Symbol: FSHR
Description: follicle stimulating hormone receptor
Alias: FSHR1, FSHRO, LGR1, ODG1, follicle-stimulating hormone receptor, FSH receptor, follitropin receptor
Species: human
Products:     FSHR

Top Publications

  1. Lussiana C, Guani B, Mari C, Restagno G, Massobrio M, Revelli A. Mutations and polymorphisms of the FSH receptor (FSHR) gene: clinical implications in female fecundity and molecular biology of FSHR protein and gene. Obstet Gynecol Surv. 2008;63:785-95 pubmed publisher
    ..this article, the reader should be able to list clinical disorders related to mutations in the follicle stimulating hormone receptor (FSHR) gene, explain the principles behind the study of FSHR mutations, and state possible future ..
  2. Pengo M, Ferlin A, Arredi B, Ganz F, Selice R, Garolla A, et al. FSH receptor gene polymorphisms in fertile and infertile Italian men. Reprod Biomed Online. 2006;13:795-800 pubmed
    In women, single nucleotide polymorphisms (SNP) of the FSH receptor (FSHR) gene influence FSH concentrations and the sensitivity of the FSHR to FSH in vivo. In contrast, the significance of FSHR R gene SNP in the male is poorly understood...
  3. Tüttelmann F, Rajpert De Meyts E, Nieschlag E, Simoni M. Gene polymorphisms and male infertility--a meta-analysis and literature review. Reprod Biomed Online. 2007;15:643-58 pubmed
    ..24 CI, P<0.00001) and MTHFR 677C-->T (OR 1.39, 1.15-2.69 95% CI, P=0.0006) but not for POLG, DAZL, USP26 or FSHR. The influence of CAG repeat length in AR remains open and debated...
  4. Achrekar S, Modi D, Desai S, Mangoli V, Mangoli R, Mahale S. Poor ovarian response to gonadotrophin stimulation is associated with FSH receptor polymorphism. Reprod Biomed Online. 2009;18:509-15 pubmed
    Similarities in the phenotype observed in women with FSH receptor mutation and in FSH receptor knockout mice have clearly established a critical role of this protein in normal gonadal function...
  5. Tong Y, Liao W, Roy A, Ng S. Absence of mutations in the coding regions of follicle-stimulating hormone receptor gene in Singapore Chinese women with premature ovarian failure and polycystic ovary syndrome. Horm Metab Res. 2001;33:221-6 pubmed
    ..Its function is mediated by its specific receptor (FSHR), and defective FSHR has been shown to affect folliculogenesis and ovarian function...
  6. Wunsch A, Ahda Y, Banaz Yaşar F, Sonntag B, Nieschlag E, Simoni M, et al. Single-nucleotide polymorphisms in the promoter region influence the expression of the human follicle-stimulating hormone receptor. Fertil Steril. 2005;84:446-53 pubmed
    To characterize novel single-nucleotide polymorphisms (SNPs) in the human FSH receptor (FSHR) promoter region. Retrospective and basic research study. University hospital...
  7. Falconer H, Andersson E, Aanesen A, Fried G. Follicle-stimulating hormone receptor polymorphisms in a population of infertile women. Acta Obstet Gynecol Scand. 2005;84:806-11 pubmed
    ..At position 680, three FSH receptor variants are possible: Asn/Asn, Asn/Ser, and Ser/Ser...
  8. Lend A, Belousova A, Haller Kikkatalo K, Punab M, Poolamets O, Peters M, et al. Follicle-stimulating hormone receptor gene haplotypes and male infertility in estonian population and meta-analysis. Syst Biol Reprod Med. 2010;56:84-90 pubmed publisher
    ..hormone (FSH) is crucial for male fertility and it exerts its effects via a gonad-specific receptor (FSHR)...
  9. Asatiani K, Gromoll J, Eckardstein S, Zitzmann M, Nieschlag E, Simoni M. Distribution and function of FSH receptor genetic variants in normal men. Andrologia. 2002;34:172-6 pubmed
    ..The influence and importance of FSH receptor (FSHR) variants on Sertoli cell function is not completely understood and remains to be investigated...

More Information

Publications71

  1. Nakayama T, Kuroi N, Sano M, Tabara Y, Katsuya T, Ogihara T, et al. Mutation of the follicle-stimulating hormone receptor gene 5'-untranslated region associated with female hypertension. Hypertension. 2006;48:512-8 pubmed
    Inactivating mutations in the follicle-stimulating hormone receptor (FSHR) gene have been reported to cause hereditary hypergonadotropic ovarian failure. It has been found recently that the FSHR knockout mouse exhibits hypertension...
  2. Yang C, Chan K, Ngan H, Khoo U, Chiu P, Chan Q, et al. Single nucleotide polymorphisms of follicle-stimulating hormone receptor are associated with ovarian cancer susceptibility. Carcinogenesis. 2006;27:1502-6 pubmed
    ..polymorphisms (SNPs) Thr307Ala and Asn680Ser were two non-synonymous variations in the coding region of the FSH receptor (FSHR) gene...
  3. Simoni M, Tempfer C, Destenaves B, Fauser B. Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response. Hum Reprod Update. 2008;14:459-84 pubmed publisher
    ..A single-nucleotide polymorphism in exon 10 of the FSH receptor (FSHR) gene, FSHR p...
  4. Greb R, Grieshaber K, Gromoll J, Sonntag B, Nieschlag E, Kiesel L, et al. A common single nucleotide polymorphism in exon 10 of the human follicle stimulating hormone receptor is a major determinant of length and hormonal dynamics of the menstrual cycle. J Clin Endocrinol Metab. 2005;90:4866-72 pubmed
    ..cycles suggest that FSH action is attenuated by a frequent single nucleotide polymorphism of the FSH receptor gene exchanging Asn for Ser at codon 680...
  5. Urizar E, Montanelli L, Loy T, Bonomi M, Swillens S, Gales C, et al. Glycoprotein hormone receptors: link between receptor homodimerization and negative cooperativity. EMBO J. 2005;24:1954-64 pubmed
    ..Tracer desorption experiments indicated an allosteric behavior in TSHr and, to a lesser extent, in LH/CGr and FSHr homodimers...
  6. Rendina D, Gianfrancesco F, De Filippo G, Merlotti D, Esposito T, Mingione A, et al. FSHR gene polymorphisms influence bone mineral density and bone turnover in postmenopausal women. Eur J Endocrinol. 2010;163:165-72 pubmed publisher
    FSH, via its receptor (FSHR), influences bone remodeling and osteoclast proliferation and activity...
  7. Wunsch A, Sonntag B, Simoni M. Polymorphism of the FSH receptor and ovarian response to FSH. Ann Endocrinol (Paris). 2007;68:160-6 pubmed
    Follicle-stimulating hormone (FSH) is a key factor in human reproduction. FSH activates its receptor (FSHR) located exclusively on Sertoli cells in the testis and granulosa cells in the ovary...
  8. Costagliola S, Panneels V, Bonomi M, Koch J, Many M, Smits G, et al. Tyrosine sulfation is required for agonist recognition by glycoprotein hormone receptors. EMBO J. 2002;21:504-13 pubmed
    ..TSHr; luteinizing hormone/chorionic gonadotrophin receptor, LH/CGr; follicle-stimulating hormone receptor, FSHr) constitute a subfamily of rhodopsin-like G protein-coupled receptors (GPCRs) with a long N-terminal extracellular ..
  9. Rodini G, Genro V, Matte U, Pereira F, Bilibio J, Greggianin C, et al. There is no complete linkage between the polymorphisms N680S and T307A of the follicular stimulating hormone receptor gene in fertile women. J Assist Reprod Genet. 2011;28:221-4 pubmed publisher
    We conducted a cross-sectional study to evaluate the linkage of FSHR T307A and N680S in a group of fertile women. Peripheral blood was obtained from 51 fertile women. DNA extraction and isolation were performed...
  10. Vilodre L, Kohek M, Spritzer P. Screening of follicle-stimulating hormone receptor gene in women with premature ovarian failure in southern Brazil and associations with phenotype. J Endocrinol Invest. 2008;31:552-7 pubmed
    We investigated the presence of mutations/polymorphisms in the FSH receptor (FSHR) gene and their association with phenotype in women with premature ovarian failure (POF) in southern Brazil...
  11. Shimoda C, Koh E, Yamamoto K, Matsui F, Sugimoto K, Sin H, et al. Single nucleotide polymorphism analysis of the follicle-stimulating hormone (FSH) receptor in Japanese with male infertility: identification of codon combination with heterozygous variations of the two discrete FSH receptor gene. Endocr J. 2009;56:859-65 pubmed
    Dysfunction of the FSH receptor (FSHR) may be involved in some form of male infertility with azoospermia or oligozoospermia. We assessed the discrete codon combination with homo/heterozygous variation of the exon 10 in the FSHR gene.
  12. Gromoll J, Dankbar B, Gudermann T. Characterization of the 5' flanking region of the human follicle-stimulating hormone receptor gene. Mol Cell Endocrinol. 1994;102:93-102 pubmed
    ..3 kilobases (kb) of the 5' flanking region of the human follicle-stimulating hormone receptor (FSHR) plus the translated region of exon 1 and subsequent sequences of intron A has been isolated and characterized...
  13. Achrekar S, Modi D, Meherji P, Patel Z, Mahale S. Follicle stimulating hormone receptor gene variants in women with primary and secondary amenorrhea. J Assist Reprod Genet. 2010;27:317-26 pubmed publisher
    This retrospective study was designed to analyze the FSHR gene variants in subjects with primary and secondary amenorrhea with hypergonadotropic hypogonadism.
  14. Li Y, Gu A, Yang H, Ding X, Ji G, Lu C, et al. FSH receptor gene polymorphisms in fertile and infertile Han-Chinese males. Clin Chim Acta. 2011;412:1048-52 pubmed publisher
    b>Follicle stimulating hormone receptor (FSHR), which mediates the effects of FSH, is essential for normal spermatogenesis and male reproduction...
  15. Simoni M, Nieschlag E, Gromoll J. Isoforms and single nucleotide polymorphisms of the FSH receptor gene: implications for human reproduction. Hum Reprod Update. 2002;8:413-21 pubmed
    The FSH receptor shows three single nucleotide polymorphisms (SNPs), one in the promoter and two in exon 10. In addition, the FSH receptor mRNA undergoes extensive alternative splicing...
  16. Balkan M, Gedik A, Akkoc H, Izci Ay O, Erdal M, Isi H, et al. FSHR single nucleotide polymorphism frequencies in proven fathers and infertile men in Southeast Turkey. J Biomed Biotechnol. 2010;2010:640318 pubmed publisher
    The influence of FSH receptor (FSHR) variants on male infertility is not completely understood...
  17. Klinkert E, te Velde E, Weima S, van Zandvoort P, Hanssen R, Nilsson P, et al. FSH receptor genotype is associated with pregnancy but not with ovarian response in IVF. Reprod Biomed Online. 2006;13:687-95 pubmed
    Two very common single nucleotide polymorphisms at positions 307 and 680 in exon 10 of the FSH receptor gene have been associated with ovarian response in IVF...
  18. La Marca A, Papaleo E, Alviggi C, Ruvolo G, De Placido G, Candiani M, et al. The combination of genetic variants of the FSHB and FSHR genes affects serum FSH in women of reproductive age. Hum Reprod. 2013;28:1369-74 pubmed publisher
    What is the effect of FSHB-211G>T together with the FSHR 2039 A>G on serum FSH in women? Serum FSH levels are affected by the combination of genetic polymorphisms in FSHR and FSHB...
  19. Overbeek A, Kuijper E, Hendriks M, Blankenstein M, Ketel I, Twisk J, et al. Clomiphene citrate resistance in relation to follicle-stimulating hormone receptor Ser680Ser-polymorphism in polycystic ovary syndrome. Hum Reprod. 2009;24:2007-13 pubmed publisher
    ..The objective of this study was to evaluate the role of the follicle-stimulating hormone receptor (FSHR) Ser680Ser-polymorphism as a predictor for CC response...
  20. Nordhoff V, Sonntag B, von Tils D, Götte M, Schuring A, Gromoll J, et al. Effects of the FSH receptor gene polymorphism p.N680S on cAMP and steroid production in cultured primary human granulosa cells. Reprod Biomed Online. 2011;23:196-203 pubmed publisher
    ..N680S of the FSH receptor gene (FSHR) in human granulosa cells (GC) and included patients homozygous for the FSHR SNP (NN/SS) undergoing ..
  21. Fu L, Zhang Z, Zhang A, Xu J, Huang X, Zheng Q, et al. Association study between FSHR Ala307Thr and Ser680Asn variants and polycystic ovary syndrome (PCOS) in Northern Chinese Han women. J Assist Reprod Genet. 2013;30:717-21 pubmed publisher
    ..3 that encodes the follicle-stimulating hormone receptor (FSHR) genes as a reproducible PCOS susceptibility locus...
  22. Jiang X, Liu H, Chen X, Chen P, Fischer D, Sriraman V, et al. Structure of follicle-stimulating hormone in complex with the entire ectodomain of its receptor. Proc Natl Acad Sci U S A. 2012;109:12491-6 pubmed publisher
    FSH, a glycoprotein hormone, and the FSH receptor (FSHR), a G protein-coupled receptor, play central roles in human reproduction...
  23. Loutradis D, Patsoula E, Minas V, Koussidis G, Antsaklis A, Michalas S, et al. FSH receptor gene polymorphisms have a role for different ovarian response to stimulation in patients entering IVF/ICSI-ET programs. J Assist Reprod Genet. 2006;23:177-84 pubmed
    To examine the frequency distribution of the Ser680Asn polymorphism of the follicle-stimulating hormone receptor (FSHR) gene in ovarian dysfunction (OD) infertile women, "poor responders" (PR) and "good responders" (GR)..
  24. Desai S, Achrekar S, Pathak B, Desai S, Mangoli V, Mangoli R, et al. Follicle-stimulating hormone receptor polymorphism (G-29A) is associated with altered level of receptor expression in Granulosa cells. J Clin Endocrinol Metab. 2011;96:2805-12 pubmed publisher
    ..The type of ovarian response is correlated with the level of FSH receptor (FSHR) expression on granulosa cells...
  25. Jiang X, Dreano M, Buckler D, Cheng S, Ythier A, Wu H, et al. Structural predictions for the ligand-binding region of glycoprotein hormone receptors and the nature of hormone-receptor interactions. Structure. 1995;3:1341-53 pubmed
    ..Averaging techniques used here to recognize the structural motif in these receptors should also apply to other proteins with repeated sequences. ..
  26. Dolfin E, Guani B, Lussiana C, Mari C, Restagno G, Revelli A. FSH-receptor Ala307Thr polymorphism is associated to polycystic ovary syndrome and to a higher responsiveness to exogenous FSH in Italian women. J Assist Reprod Genet. 2011;28:925-30 pubmed publisher
    ..The heterozygote FSH-R polymorphism Ala307Thr is significantly more frequent in women with PCOS than in normo-ovulatory subjects and is more frequently associated with a higher ovarian responsiveness to exogenous FSH. ..
  27. Smits G, Olatunbosun O, Delbaere A, Pierson R, Vassart G, Costagliola S. Ovarian hyperstimulation syndrome due to a mutation in the follicle-stimulating hormone receptor. N Engl J Med. 2003;349:760-6 pubmed
  28. Hagen C, Aksglaede L, Sørensen K, Mouritsen A, Mieritz M, Main K, et al. FSHB-211 and FSHR 2039 are associated with serum levels of follicle-stimulating hormone and antimüllerian hormone in healthy girls: a longitudinal cohort study. Fertil Steril. 2013;100:1089-95 pubmed publisher
    To investigate whether genetic polymorphisms in the FSH pathway (FSHB-211 G→T and FSHR 2039 A→G) affect serum levels of FSH, antimüllerian hormone (AMH), and age at pubertal onset...
  29. Agrawal G, Dighe R. Critical involvement of the hinge region of the follicle-stimulating hormone receptor in the activation of the receptor. J Biol Chem. 2009;284:2636-47 pubmed publisher
    The follicle-stimulating hormone receptor (FSHR) is a G-protein-coupled receptor with a large hormone-specific extracellular domain (amino acids (aa) 1-366) and a characteristic seven-transmembrane domain (TMD; aa 367-695)...
  30. Mohiyiddeen L, Nardo L. Single-nucleotide polymorphisms in the FSH receptor gene and ovarian performance: future role in IVF. Hum Fertil (Camb). 2010;13:72-8 pubmed publisher
    ..Recently, there have been a number of studies on the effect of single-nucleotide polymorphisms (SNPs) in the FSH receptor gene and its predictability in ovarian response to FSH stimulation...
  31. De Castro F, Ruiz R, Montoro L, Pérez Hernández D, Sánchez Casas Padilla E, Real L, et al. Role of follicle-stimulating hormone receptor Ser680Asn polymorphism in the efficacy of follicle-stimulating hormone. Fertil Steril. 2003;80:571-6 pubmed
    To evaluate the association between FSH efficacy and FSHR alleles. Retrospective study. University-based fertility unit and a private center for biomedical research...
  32. Hermann B, Heckert L. Silencing of Fshr occurs through a conserved, hypersensitive site in the first intron. Mol Endocrinol. 2005;19:2112-31 pubmed
    Expression of the FSH receptor (Fshr) is restricted to testicular Sertoli cells and ovarian granulosa cells, thereby limiting the direct targets of FSH action to these somatic cells of the gonads...
  33. Doherty E, Pakarinen P, Tiitinen A, Kiilavuori A, Huhtaniemi I, Forrest S, et al. A Novel mutation in the FSH receptor inhibiting signal transduction and causing primary ovarian failure. J Clin Endocrinol Metab. 2002;87:1151-5 pubmed
    Inactivating mutations of the FSH receptor (FSHR) are known to cause ovarian failure with amenorrhea and infertility in women...
  34. Ahda Y, Gromoll J, Wunsch A, Asatiani K, Zitzmann M, Nieschlag E, et al. Follicle-stimulating hormone receptor gene haplotype distribution in normozoospermic and azoospermic men. J Androl. 2005;26:494-9 pubmed
    The human follicle-stimulating hormone (FSH) receptor (FSHR) gene possesses single nucleotide polymorphisms (SNP) in exon 10, which influence serum FSH levels in women, but not in men...
  35. Grigorova M, Punab M, Poolamets O, Sober S, Vihljajev V, Zilaitiene B, et al. Study in 1790 Baltic men: FSHR Asn680Ser polymorphism affects total testes volume. Andrology. 2013;1:293-300 pubmed publisher
    Follicle-stimulating hormone receptor (FSHR) contains two common linked polymorphisms, Thr307Ala (rs6165) and Asn680Ser (rs6166), shown to modulate ovarian function in women...
  36. Kuijper E, Blankenstein M, Luttikhof L, Roek S, Overbeek A, Hompes P, et al. Frequency distribution of polymorphisms in the FSH receptor gene in infertility patients of different ethnicity. Reprod Biomed Online. 2010;20:588-93 pubmed publisher
    Studies on the frequency distribution of follicle-stimulating hormone receptor (FSHR) polymorphisms report conflicting results. It has been suggested that ethnicity might influence these outcomes...
  37. Wu X, Xu S, Liu J, Bi X, Wu Y, Liu J. Association between FSHR polymorphisms and polycystic ovary syndrome among Chinese women in north China. J Assist Reprod Genet. 2014;31:371-7 pubmed publisher
    ..follicle stimulating hormone (FSH) exerts important biological functions, the association between PCOS and FSH receptor (FSHR) polymorphisms attracts wide attention...
  38. Unsal T, Konac E, Yesilkaya E, Yilmaz A, Bideci A, Ilke Onen H, et al. Genetic polymorphisms of FSHR, CYP17, CYP1A1, CAPN10, INSR, SERPINE1 genes in adolescent girls with polycystic ovary syndrome. J Assist Reprod Genet. 2009;26:205-16 pubmed publisher
    ..The aim of this study is to investigate the possible association between single nucleotide polymorphisms (SNPs) of FSHR, CYP17, CYP1A1, CAPN10, INSR, SERPINE1 genes and PCOS in adolescent girls...
  39. Achrekar S, Modi D, Desai S, Mangoli V, Mangoli R, Mahale S. Follicle-stimulating hormone receptor polymorphism (Thr307Ala) is associated with variable ovarian response and ovarian hyperstimulation syndrome in Indian women. Fertil Steril. 2009;91:432-9 pubmed publisher
    To evaluate the association of FSH receptor polymorphism and ovarian response. Retrospective study. Academic research institute and private IVF clinic...
  40. Aittomaki K, Lucena J, Pakarinen P, Sistonen P, Tapanainen J, Gromoll J, et al. Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. Cell. 1995;82:959-68 pubmed
    ..As the previously cloned follicle-stimulating hormone receptor (FSHR) gene had been assigned to 2p, we searched it for mutations...
  41. Behre H, Greb R, Mempel A, Sonntag B, Kiesel L, Kaltwasser P, et al. Significance of a common single nucleotide polymorphism in exon 10 of the follicle-stimulating hormone (FSH) receptor gene for the ovarian response to FSH: a pharmacogenetic approach to controlled ovarian hyperstimulation. Pharmacogenet Genomics. 2005;15:451-6 pubmed
    ..N680S FSH receptor were randomly assigned to group I (Ser/Ser, n=24), receiving an FSH dose of 150 U/day, or group II (Ser/Ser, n=..
  42. Jun J, Yoon J, Ku S, Choi Y, Hwang K, Park S, et al. Follicle-stimulating hormone receptor gene polymorphism and ovarian responses to controlled ovarian hyperstimulation for IVF-ET. J Hum Genet. 2006;51:665-70 pubmed
    This study was performed to investigate the association between FSH receptor (FSHR) gene polymorphism at position 680 and the outcomes of controlled ovarian hyperstimulation (COH) for in vitro fertilization and embryo transfer (IVF-ET) in ..
  43. Selice R, Garolla A, Pengo M, Caretta N, Ferlin A, Foresta C. The response to FSH treatment in oligozoospermic men depends on FSH receptor gene polymorphisms. Int J Androl. 2011;34:306-12 pubmed publisher
    In the last years, follice-stimulating hormone (FSH) receptor (FSHR) gene polymorphisms have been studied as potential risk factors for spermatogenetic failure...
  44. Gu B, Park J, Baek K. Genetic variations of follicle stimulating hormone receptor are associated with polycystic ovary syndrome. Int J Mol Med. 2010;26:107-12 pubmed
    ..Follicle stimulating hormone (FSH) has effects on oogenesis and follicle development. Several polymorphisms of FSH receptor (FSHR) are related to primary amenorrhea, hypoplastic ovary, and high serum levels of FSH...
  45. Valkenburg O, Uitterlinden A, Piersma D, Hofman A, Themmen A, de Jong F, et al. Genetic polymorphisms of GnRH and gonadotrophic hormone receptors affect the phenotype of polycystic ovary syndrome. Hum Reprod. 2009;24:2014-22 pubmed publisher
    ..Single nucleotide polymorphisms were selected in GnRH (Trp16Ser [rs6185]), the FSH-receptor (FSHR, Ala307Thr [rs6165] and Asn680Ser [rs6166]) and the LH-receptor (18insLQ, Asn291Ser [rs12470652] and Ser312Asn [..
  46. Simoni M, Gromoll J, Nieschlag E. The follicle-stimulating hormone receptor: biochemistry, molecular biology, physiology, and pathophysiology. Endocr Rev. 1997;18:739-73 pubmed
  47. Plunkett J, Doniger S, Orabona G, Morgan T, Haataja R, Hallman M, et al. An evolutionary genomic approach to identify genes involved in human birth timing. PLoS Genet. 2011;7:e1001365 pubmed publisher
    ..In this cohort, the most significant association was in FSHR, and 8 of the 10 most significant SNPs were in this gene...
  48. Fan Q, Hendrickson W. Structure of human follicle-stimulating hormone in complex with its receptor. Nature. 2005;433:269-77 pubmed
    ..a partially deglycosylated complex of human FSH bound to the extracellular hormone-binding domain of its receptor (FSHR(HB)). The hormone is bound in a hand-clasp fashion to an elongated, curved receptor...
  49. Laven J, Mulders A, Suryandari D, Gromoll J, Nieschlag E, Fauser B, et al. Follicle-stimulating hormone receptor polymorphisms in women with normogonadotropic anovulatory infertility. Fertil Steril. 2003;80:986-92 pubmed
    To assess the incidence of different FSH receptor genotypes in normogonadotropic anovulatory infertile women (World Health Organization class II) and normo-ovulatory controls and to correlate these genotypes with baseline characteristics ..
  50. Zalata A, Hassan A, Nada H, Bragais F, Agarwal A, Mostafa T. Follicle-stimulating hormone receptor polymorphism and seminal anti-Müllerian hormone in fertile and infertile men. Andrologia. 2008;40:392-7 pubmed publisher
    ..is fundamental for Sertoli cell function stimulating spermatogenesis and follicular growth by a specific receptor (FSHR)...
  51. Putowski L, Schillings W, Lee C, Reddy E, Jakowicki J. Human follicle-stimulating hormone receptor (FSH-R) promoter/enhancer activity is inhibited by transcriptional factors, from the upstream stimulating factors family, via E-box and newly identified initiator element (Inr) in FSH-R non-expressing cells. Gynecol Endocrinol. 2004;19:9-17 pubmed
    ..USF family members inhibit FSH-R gene activity by acting via these elements. USF1 and USF2 suppress human FSH-R promoter/enhancer activity by acting on E-box 3. USF1 also decreases activity by interacting with the Inr element. ..
  52. Orio F, Ferrarini E, Cascella T, Dimida A, Palomba S, Gianetti E, et al. Genetic analysis of the follicle stimulating hormone receptor gene in women with polycystic ovary syndrome. J Endocrinol Invest. 2006;29:975-82 pubmed
    This study was designed to assess the relationship between mutations in the FSH receptor (FSHr) gene and polycystic ovary syndrome (PCOS) in Italian women...
  53. Tüttelmann F, Laan M, Grigorova M, Punab M, Sõber S, Gromoll J. Combined effects of the variants FSHB -211G>T and FSHR 2039A>G on male reproductive parameters. J Clin Endocrinol Metab. 2012;97:3639-47 pubmed publisher
    ..promoter (-211G>T, rs10835638) was shown to influence male serum FSH levels, whereas a polymorphism in the FSH receptor gene (FSHR; 2039A>G, rs6166) was previously shown to be associated with FSH levels in women only...
  54. Sundblad V, Chiauzzi V, Escobar M, Dain L, Charreau E. Screening of FSH receptor gene in Argentine women with premature ovarian failure (POF). Mol Cell Endocrinol. 2004;222:53-9 pubmed
    Diverse mutations in FSH-receptor (FSHR) gene have been described as possible cause of premature ovarian failure (POF)...
  55. Wu W, Cai H, Sun H, Lu J, Zhao D, Qin Y, et al. Follicle stimulating hormone receptor G-29A, 919A>G, 2039A>G polymorphism and the risk of male infertility: a meta-analysis. Gene. 2012;505:388-92 pubmed publisher
    Studies of the relationship between male infertility and polymorphisms in the regions of FSHR G-29A (rs1394205), 919A>G (Thr(307)Ala, rs6165) and 2039A>G (Asn(680)Ser, rs6166) have reported inconsistent results...
  56. Sudo S, Kudo M, Wada S, Sato O, Hsueh A, Fujimoto S. Genetic and functional analyses of polymorphisms in the human FSH receptor gene. Mol Hum Reprod. 2002;8:893-9 pubmed
    To determine the influence of FSH receptor variants Thr307-Asn680 (TN) and Ala307-Ser680 (AS) on ovarian function, we investigated the frequency of these gene polymorphisms by using restriction fragment length polymorphism analysis and ..
  57. Montanelli L, Van Durme J, Smits G, Bonomi M, Rodien P, Devor E, et al. Modulation of ligand selectivity associated with activation of the transmembrane region of the human follitropin receptor. Mol Endocrinol. 2004;18:2061-73 pubmed
    Recently, three naturally occurring mutations in the serpentine region of the FSH receptor (FSHr) (D567N and T449I/A) have been identified in three families with spontaneous ovarian hyperstimulation syndrome (OHSS)...
  58. Daelemans C, Smits G, De Maertelaer V, Costagliola S, Englert Y, Vassart G, et al. Prediction of severity of symptoms in iatrogenic ovarian hyperstimulation syndrome by follicle-stimulating hormone receptor Ser680Asn polymorphism. J Clin Endocrinol Metab. 2004;89:6310-5 pubmed
    ..v.f.). Recently, three different mutations of the FSH receptor (FSHr) have been identified in patients who presented recurrent spontaneous OHSS...
  59. Lindgren I, Giwercman A, Axelsson J, Lundberg Giwercman Y. Association between follicle-stimulating hormone receptor polymorphisms and reproductive parameters in young men from the general population. Pharmacogenet Genomics. 2012;22:667-72 pubmed publisher
    Follicle-stimulating hormone (FSH) regulates gametogenesis through binding to its receptor (FSHR)...
  60. Du J, Zhang W, Guo L, Zhang Z, Shi H, Wang J, et al. Two FSHR variants, haplotypes and meta-analysis in Chinese women with premature ovarian failure and polycystic ovary syndrome. Mol Genet Metab. 2010;100:292-5 pubmed publisher
    In this study, two polymorphisms of follicle stimulating hormone receptor (FSHR) gene were analysed in the case-control sample using 40 premature ovarian failure (POF) patients, 60 polycystic ovary syndrome (PCOS) patients and 92 healthy ..
  61. Yao Y, Ma C, Tang H, Hu Y. Influence of follicle-stimulating hormone receptor (FSHR) Ser680Asn polymorphism on ovarian function and in-vitro fertilization outcome: a meta-analysis. Mol Genet Metab. 2011;103:388-93 pubmed publisher
    A common follicle-stimulating hormone (FSH) receptor (or FSHR) polymorphism Ser680Asn (rs6166) was found to be associated with altered ovarian response in women undergoing in-vitro fertilization...
  62. Thomas R, Nechamen C, Mazurkiewicz J, Muda M, Palmer S, Dias J. Follice-stimulating hormone receptor forms oligomers and shows evidence of carboxyl-terminal proteolytic processing. Endocrinology. 2007;148:1987-95 pubmed
    b>FSH receptor (FSHR), a member of the G protein-coupled receptor superfamily, is present in the plasma membrane of ovarian granulosa cells and testicular Sertoli cells...