메뉴 건너뛰기




Volumn 12, Issue 3, 2001, Pages 292-297

Mutation Screening of the FSH Receptor Gene in Infertile Men

Author keywords

FSH Receptor; Infertile Men; Mutation

Indexed keywords

FOLLITROPIN; FOLLITROPIN RECEPTOR;

EID: 0035981213     PISSN: 10168478     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (20)

References (20)
  • 2
    • 0030476830 scopus 로고    scopus 로고
    • Clinical manifestations of genetic defects gonadotrophins and their receptors
    • Conway, G. S. (1996) Clinical manifestations of genetic defects gonadotrophins and their receptors. Clin. Endocrinol. 145, 657-663.
    • (1996) Clin. Endocrinol. , vol.145 , pp. 657-663
    • Conway, G.S.1
  • 3
    • 0032506018 scopus 로고    scopus 로고
    • Impairing FSH signaling in vivo: Targeted disruption of the FSH receptor leads to aberrant gametogenesis and hormonal imbalance
    • Dierich, A., Sairam, M. R., and Monaco, L. (1998) Impairing FSH signaling in vivo: targeted disruption of the FSH receptor leads to aberrant gametogenesis and hormonal imbalance. Proc. Natl. Acad. Sci. USA 95, 13612-13617.
    • (1998) Proc. Natl. Acad. Sci. USA , vol.95 , pp. 13612-13617
    • Dierich, A.1    Sairam, M.R.2    Monaco, L.3
  • 4
    • 0028286342 scopus 로고
    • Localization of the human FSH receptor to chromosome 2p21 using a genomic probe encoding exon ten
    • Gromoll, J., Ried, T., Holtgreve-Grez, H., Nieschlag, E., and Gudermann, T. (1994) Localization of the human FSH receptor to chromosome 2p21 using a genomic probe encoding exon ten. J. Mol. Endocrinol. 12, 265-271.
    • (1994) J. Mol. Endocrinol. , vol.12 , pp. 265-271
    • Gromoll, J.1    Ried, T.2    Holtgreve-Grez, H.3    Nieschlag, E.4    Gudermann, T.5
  • 5
    • 0030586238 scopus 로고    scopus 로고
    • The structure and organization of the human follicle-stimulating hormone receptor (FSHR) gene
    • Gromoll, J., Pekel, E., and Nieschlag, E. (1996a) The structure and organization of the human follicle-stimulating hormone receptor (FSHR) gene. Genomics 35, 308-311.
    • (1996) Genomics , vol.35 , pp. 308-311
    • Gromoll, J.1    Pekel, E.2    Nieschlag, E.3
  • 7
    • 0025915915 scopus 로고
    • Expression of follicle-stimulating hormone receptor mRNA in rat testes and Sertoli cells
    • Heckert, L. L. and Griswold, M. D. (1991) Expression of follicle-stimulating hormone receptor mRNA in rat testes and Sertoli cells. Mol. Endocrinol. 5, 670-677.
    • (1991) Mol. Endocrinol. , vol.5 , pp. 670-677
    • Heckert, L.L.1    Griswold, M.D.2
  • 8
    • 0031054284 scopus 로고    scopus 로고
    • Follicle stimulating hormone is required for ovarian follicle maturation but not male fertility
    • Kumar, T. R., Wang, Y., Lu, N., and Matzuk, M. M. (1997) Follicle stimulating hormone is required for ovarian follicle maturation but not male fertility. Nat. Genet. 15, 201-204.
    • (1997) Nat. Genet. , vol.15 , pp. 201-204
    • Kumar, T.R.1    Wang, Y.2    Lu, N.3    Matzuk, M.M.4
  • 9
    • 0034732237 scopus 로고    scopus 로고
    • Mutations of follicle stimulating hormone-β and its receptor in human and mouse:genotyp/phenotype
    • Layman, L. C. and McDonough, P. G. (2000) Mutations of follicle stimulating hormone-β and its receptor in human and mouse:genotyp/phenotype. Mol. Cell. Endocrinol. 161, 9-17.
    • (2000) Mol. Cell. Endocrinol. , vol.161 , pp. 9-17
    • Layman, L.C.1    McDonough, P.G.2
  • 10
    • 0031931058 scopus 로고    scopus 로고
    • The Finnish follicle-stimulating hormone receptor gene mutation is rare in North American women with 46,XX ovarian failure
    • Layman, L. C., Made, S., Cohen, D. P., Jin, M., and Xie, J. (1998) The Finnish follicle-stimulating hormone receptor gene mutation is rare in North American women with 46,XX ovarian failure. Fertil. Steril. 69, 300-302.
    • (1998) Fertil. Steril. , vol.69 , pp. 300-302
    • Layman, L.C.1    Made, S.2    Cohen, D.P.3    Jin, M.4    Xie, J.5
  • 12
    • 0030949956 scopus 로고    scopus 로고
    • Does the gonadotrophic axis play a role in the pathogenesis of Sertoli-cell-only syndrome?
    • Leifke, E., Simoni, M., Kamischke, A., Gromoll, J., Bergmann, M., and Nieschlag, E. (1997) Does the gonadotrophic axis play a role in the pathogenesis of Sertoli-cell-only syndrome? Int. J. Androl. 20, 29-36.
    • (1997) Int. J. Androl. , vol.20 , pp. 29-36
    • Leifke, E.1    Simoni, M.2    Kamischke, A.3    Gromoll, J.4    Bergmann, M.5    Nieschlag, E.6
  • 13
    • 0032145719 scopus 로고    scopus 로고
    • Identification of allelic variants in the follicle-stimulating hormone receptor genes of females with or without hypergonadotropic amenorrhea
    • Liu, J. Y., Gromoll, J., Cedars, M. I., and La Barbera, A. R. (1998) Identification of allelic variants in the follicle-stimulating hormone receptor genes of females with or without hypergonadotropic amenorrhea. Fertil. Steril. 70, 326-331
    • (1998) Fertil. Steril. , vol.70 , pp. 326-331
    • Liu, J.Y.1    Gromoll, J.2    Cedars, M.I.3    La Barbera, A.R.4
  • 14
  • 15
    • 0031457992 scopus 로고    scopus 로고
    • The FSH receptor: Biochemistry, molecular biology, physiology and pathophysiology
    • Simoni, M., Gromoll, J., and Niesclag, E. (1997) The FSH receptor: biochemistry, molecular biology, physiology and pathophysiology. Endocr. Rev. 18, 739-773.
    • (1997) Endocr. Rev. , vol.18 , pp. 739-773
    • Simoni, M.1    Gromoll, J.2    Niesclag, E.3
  • 16
    • 0033018934 scopus 로고    scopus 로고
    • Mutational analysis of the follicle-stimulating hormone (FSH) receptor in normal and infertile men: Identification and characterization of two discrete FSH receptor isoforms
    • Simoni, M., Gromoll, J., Hoppner, W., Kamischke, A., Ktafft, T., Stahle, D., and Niesclag, E. (1999) Mutational analysis of the follicle-stimulating hormone (FSH) receptor in normal and infertile men: identification and characterization of two discrete FSH receptor isoforms. J. Clin. Endocrinol. Metab. 84, 751-756.
    • (1999) J. Clin. Endocrinol. Metab. , vol.84 , pp. 751-756
    • Simoni, M.1    Gromoll, J.2    Hoppner, W.3    Kamischke, A.4    Ktafft, T.5    Stahle, D.6    Niesclag, E.7
  • 17
    • 0025237466 scopus 로고
    • The testicular receptor for follicle stimulating hormone: Structure and functional expression of cloned cDNA
    • Sprengel, R., Braun, T., Nikolics, K., Segaloff, D. L., and Seeburg, P. H. (1990) The testicular receptor for follicle stimulating hormone: structure and functional expression of cloned cDNA. Mol. Endocrinol. 4, 525-530.
    • (1990) Mol. Endocrinol. , vol.4 , pp. 525-530
    • Sprengel, R.1    Braun, T.2    Nikolics, K.3    Segaloff, D.L.4    Seeburg, P.H.5
  • 18
    • 1842376911 scopus 로고    scopus 로고
    • Men homozygous for an inactivating mutation of the FSH receptor gene present variable suppression of spermatogenesis and fertility
    • Tapanainen, J. S., Aottomake, K., Kin, J., Vaskiwuo, T., and Huhtaniemi, I. T. (1997) Men homozygous for an inactivating mutation of the FSH receptor gene present variable suppression of spermatogenesis and fertility. Nat. Genet. 15, 205-206.
    • (1997) Nat. Genet. , vol.15 , pp. 205-206
    • Tapanainen, J.S.1    Aottomake, K.2    Kin, J.3    Vaskiwuo, T.4    Huhtaniemi, I.T.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.