Screening of FSH receptor gene in Argentine women with premature ovarian failure (POF)
Diverse mutations in FSH-receptor (FSHR) gene have been described as possible cause of premature ovarian failure (POF). To investigate the presence of mutations and/or polymorphisms in FSHR gene, DNA from 20 POF, 5 of which were diagnosed as resistant ovary syndrome (ROS), and from 44 controls was i...
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2004
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| LEADER | 14664caa a22014417a 4500 | ||
|---|---|---|---|
| 001 | PAPER-4493 | ||
| 003 | AR-BaUEN | ||
| 005 | 20230518203403.0 | ||
| 008 | 190411s2004 xx ||||fo|||| 00| 0 eng|d | ||
| 024 | 7 | |2 scopus |a 2-s2.0-3142566481 | |
| 024 | 7 | |2 cas |a Receptors, FSH | |
| 040 | |a Scopus |b spa |c AR-BaUEN |d AR-BaUEN | ||
| 030 | |a MCEND | ||
| 100 | 1 | |a Sundblad, V. | |
| 245 | 1 | 0 | |a Screening of FSH receptor gene in Argentine women with premature ovarian failure (POF) |
| 260 | |c 2004 | ||
| 270 | 1 | 0 | |m Sundblad, V.; Inst. de Biol. Y Med. Experimental, Vuelta de Obligado 2490, C1428ADN Buenos Aires, Argentina; email: sundblad@dna.uba.ar |
| 506 | |2 openaire |e Política editorial | ||
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| 504 | |a De La Chesnaye, E., Canto, P., Ulloa-Aguirre, A., Méndez, J.P., No evidence of mutations in the follicle-stimulating hormone receptor gene in Mexican women with 46,XX pure gonadal dysgenesis (2001) Am. J. Med. Genet., 8, pp. 125-128 | ||
| 504 | |a De Moraes-Ruehsen, M., Jones, G.S., Premature ovarian failure (1967) Fertil. Steril., 8, pp. 440-461 | ||
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| 504 | |a Forrest, S., Cotton, R., Landegren, U., Southern, E., How to find all those mutations (1995) Nat. Genet., 10, pp. 375-376 | ||
| 504 | |a Gromoll, J., Simoni, M., Nieschlag, E., An activating mutation of the follicle-stimulating hormone receptor autonomously sustains spermatogenesis in a hypophysectomized mank (1996) J. Clin. Endocrinol. Metab., 81, pp. 1367-1370 | ||
| 504 | |a Gromoll, J., Simoni, M., Nordhoff, V., Behre, H.M., De Geyter, C., Nieschlag, E., Functional and clinical consequences of mutations in the FSH receptor (1996) Mol. Cell Endocrinol., 125, pp. 177-182 | ||
| 504 | |a Hoek, A., Schoemaker, J., Drexhage, H., Premature ovarian failure and ovarian autoimmunity (1997) Endocr. Rev., 18, pp. 107-134 | ||
| 504 | |a Jiang, M., Aittomäki, K., Nilsson, C., Pakarinen, P., Iitiä, A., Torresani, T., Simonsen, H., Huhtaniemi, I., The frequency of an inactivating point mutation (566C→T) of the human follicle-stimulating hormone receptor gene in four populations using allele-specific hybridization and time-resolved fluorometry (1998) J. Clin. Endocrinol. Metab., 83, pp. 4338-4343 | ||
| 504 | |a Jones, G.S., De Moraes-Ruehsen, M., A new syndrome of amenorrhea in association with hypergonadotropism and apparently normal ovarian follicular apparatus (1969) Am. J. Obstet. Gynecol., 104, pp. 597-600 | ||
| 504 | |a Layman, L.C., Made, S., Cohen, D.P., Jin, M., Xie, J., The Finnish follicle-stimulating hormone receptor gene mutation is rare in North American women with 46,XX ovarian failure (1998) Fertil. Steril., 69, pp. 300-302 | ||
| 504 | |a Mattison, D.R., Evans, M.I., Schwimmer, W.B., White, B.J., Jensen, B., Schulman, J.D., Familial premature ovarian failure (1984) Am. J. Hum. Genet., 36, pp. 1341-1348 | ||
| 504 | |a Meduri, G., Touraine, P., Beau, I., Lahuna, O., Desroches, A., Vacher-Lavenu, M.C., Kuttenn, F., Misrahi, M., Delayed puberty and primary amenorrhea associated with a novel mutation of the human follicle-stimulating hormone receptor: Clinical, histological, and molecular studies (2003) J. Clin. Endocrinol. Metab., 88, pp. 3491-3498 | ||
| 504 | |a Mehta, A.E., Matwijiw, I., Lyons, E.A., Faiman, C., Noninvasive diagnosis of resistant ovary syndrome by ultrasonography (1992) Fertil. Steril., 7, pp. 56-61 | ||
| 504 | |a Pache, T.D., Wladimiroff, J.W., De Jong, F.H., Hop, W.C., Fauser, B.C.J.M., Growth patterns of nondominant ovarian follicles during the normal menstrual cycle (1990) Fertil. Steril., 54, pp. 638-642 | ||
| 504 | |a Shelling, A.N., Burton, K.A., Chand, A.L., Van Ee, C.C., France, J.T., Farquhar, C.M., Milsom, S.R., Winship, I.M., Inhibin: A candidate gene for premature ovarian failure (2000) Hum. Reprod., 15, pp. 2644-2649 | ||
| 504 | |a Simoni, M., Gromoll, J., Nieschlag, E., The follicle-stimulating hormone receptor: Biochemistry, molecular biology, physiology, and pathophysiology (1997) Endocr. Rev., 18, pp. 739-773 | ||
| 504 | |a Simoni, M., Gromoll, J., Höppner, W., Kamischke, A., Krafft, T., Stähle, D., Nieschlag, E., Mutational analysis of the follicle-stimulating hormone (FSH) receptor in normal and infertile men: Identification and characterization of two discrete FSH receptor isoforms (1999) J. Clin. Endocrinol. Metab., 84, pp. 751-755 | ||
| 504 | |a Takakura, K., Takebayashi, K., Wang, H.Q., Kimura, F., Kasahara, K., Noda, Y., Follicle-stimulating hormone receptor gene mutations are rare in Japanese women with premature ovarian failure and polycystic ovary syndrome (2001) Fertil. Steril., 75, pp. 207-209 | ||
| 504 | |a Takebayashi, K., Takakura, K., Wang, H.Q., Kimura, F., Kasahara, K., Noda, Y., Mutation analysis of the growth differentiation factor-9 and -9B genes in patients with premature ovarian failure and polycystic ovary syndrome (2000) Fertil. Steril., 74, pp. 976-979 | ||
| 504 | |a Themmen, A.P.N., Huhtaniemi, I.T., Mutations of gonadotropins and gonadotropin receptors: Elucidating the physiology and pathophysiology of pituitary-gonadal function (2000) Endocr. Rev., 21, pp. 551-583 | ||
| 504 | |a Tong, Y., Liao, W.X., Roy, A.C., Ng, S.C., 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 (2001) Horm. Metab. Res., 33, pp. 221-226 | ||
| 504 | |a Touraine, P., Beau, I., Gougeon, A., Meduri, G., Desroches, A., Pichard, C., Detoeuf, M., Misrahi, M., New natural inactivating mutations of the follicle-stimulating hormone receptor: Correlations between receptor function and phenotype (1999) Mol. Endocrinol., 13, pp. 1844-1854 | ||
| 504 | |a Van Weissenbruch, M.M., Hoek, A., Van Vliet-Bleeker, I., Schoemaker, J., Drexhage, H., Evidence for existence of immunoglobulins that block ovarian granulosa cell growth in vitro. a putative role in resistant ovary syndrome? (1991) J. Clin. Endocrinol. Metab., 73, pp. 360-367 | ||
| 504 | |a Whitney, E.A., Layman, L.C., Chan, P.J., Lee, A., Peak, D.B., McDonough, P.G., The follicle-stimulating hormone receptor gene is polymorphic in premature ovarian failure and normal controls (1995) Fertil. Steril., 64, pp. 518-524 | ||
| 504 | |a Yin Liu, J., Gromoll, J., Cedars, M.I., La Barbera, A.R., Identification of allelic variants in the follicle-stimulating hormone receptor genes of females with or without hypergonadotropic amenorrhea (1998) Fertil. Steril., 70, pp. 326-331 | ||
| 520 | 3 | |a Diverse mutations in FSH-receptor (FSHR) gene have been described as possible cause of premature ovarian failure (POF). To investigate the presence of mutations and/or polymorphisms in FSHR gene, DNA from 20 POF, 5 of which were diagnosed as resistant ovary syndrome (ROS), and from 44 controls was isolated from peripheral lymphocytes. The complete coding sequence was analysed by PCR followed by SSCP, direct sequencing or restriction enzyme analysis. No mutations in FSHR gene were identified in the patients studied. The two already described polymorphisms in exon 10, A919G and A2039G, cosegregated in all the homozygous individuals, indicating that FSHR presents two isoforms: Ala307- Ser680 and Thr307-Asn680. OR results suggest that the 919G-2039G allelic variant or the homozygous genotype is not associated to disease risk. In addition, a heterozygous substitution T1022C (Val341Ala) was found in two control subjects. We suggest that mutations in FSHR gene are rare in women with POF in Argentine. Presence of a particular FSHR isoform does not appear to be associated with this disease. © 2004 Elsevier Ireland Ltd. All rights reserved. |l eng | |
| 536 | |a Detalles de la financiación: Fundación Alberto J. Roemmers | ||
| 536 | |a Detalles de la financiación: The study was supported by grants from the Argentine Ministry of Health, and from Alberto J. Roemmers Foundation. | ||
| 593 | |a Inst. de Biol. Y Med. Experimental, Vuelta de Obligado 2490, C1428ADN Buenos Aires, Argentina | ||
| 593 | |a Ctro. de Invest. Endocrinologicas, Hosp. de Ninos Ricardo Gutierrez, Buenos Aires, Argentina | ||
| 593 | |a Ctro. Nac. de Genet. Medica, Buenos Aires, Argentina | ||
| 593 | |a Fac. de Ciencias Exactas Y Naturales, Universidad de Buenos Aires, Buenos Aires, Argentina | ||
| 690 | 1 | 0 | |a FSH-RECEPTOR GENE |
| 690 | 1 | 0 | |a PREMATURE OVARIAN FAILURE |
| 690 | 1 | 0 | |a RESISTANT OVARY SYNDROME |
| 690 | 1 | 0 | |a FOLLITROPIN RECEPTOR |
| 690 | 1 | 0 | |a ADOLESCENT |
| 690 | 1 | 0 | |a ADULT |
| 690 | 1 | 0 | |a ARTICLE |
| 690 | 1 | 0 | |a CLINICAL ARTICLE |
| 690 | 1 | 0 | |a CONTROLLED STUDY |
| 690 | 1 | 0 | |a ENZYME ANALYSIS |
| 690 | 1 | 0 | |a EXON |
| 690 | 1 | 0 | |a FEMALE |
| 690 | 1 | 0 | |a GENE IDENTIFICATION |
| 690 | 1 | 0 | |a GENE MUTATION |
| 690 | 1 | 0 | |a GENETIC POLYMORPHISM |
| 690 | 1 | 0 | |a GENETIC RISK |
| 690 | 1 | 0 | |a GENOTYPE |
| 690 | 1 | 0 | |a HETEROZYGOSITY |
| 690 | 1 | 0 | |a HOMOZYGOSITY |
| 690 | 1 | 0 | |a HUMAN |
| 690 | 1 | 0 | |a PERIPHERAL LYMPHOCYTE |
| 690 | 1 | 0 | |a POLYMERASE CHAIN REACTION |
| 690 | 1 | 0 | |a PREMATURE OVARIAN FAILURE |
| 690 | 1 | 0 | |a PRIORITY JOURNAL |
| 690 | 1 | 0 | |a SCREENING |
| 690 | 1 | 0 | |a ADOLESCENT |
| 690 | 1 | 0 | |a ADULT |
| 690 | 1 | 0 | |a CASE-CONTROL STUDIES |
| 690 | 1 | 0 | |a EXONS |
| 690 | 1 | 0 | |a FEMALE |
| 690 | 1 | 0 | |a GENOTYPE |
| 690 | 1 | 0 | |a HETEROZYGOTE |
| 690 | 1 | 0 | |a HOMOZYGOTE |
| 690 | 1 | 0 | |a HUMANS |
| 690 | 1 | 0 | |a LYMPHOCYTES |
| 690 | 1 | 0 | |a MASS SCREENING |
| 690 | 1 | 0 | |a MUTATION |
| 690 | 1 | 0 | |a OVARIAN FAILURE, PREMATURE |
| 690 | 1 | 0 | |a OVARY |
| 690 | 1 | 0 | |a POLYMERASE CHAIN REACTION |
| 690 | 1 | 0 | |a POLYMORPHISM, GENETIC |
| 690 | 1 | 0 | |a POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL |
| 690 | 1 | 0 | |a RECEPTORS, FSH |
| 690 | 1 | 0 | |a RISK FACTORS |
| 651 | 4 | |a ARGENTINA | |
| 700 | 1 | |a Chiauzzi, V.A. | |
| 700 | 1 | |a Escobar, M.E. | |
| 700 | 1 | |a Dain, L. | |
| 700 | 1 | |a Charreau, E.H. | |
| 773 | 0 | |d 2004 |g v. 222 |h pp. 53-59 |k n. 1-2 |p Mol. Cell. Endocrinol. |x 03037207 |w (AR-BaUEN)CENRE-6138 |t Molecular and Cellular Endocrinology | |
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