메뉴 건너뛰기




Volumn 5, Issue AUG, 2014, Pages

Approaches to identify genetic variants that influence the risk for onset of fragile X-associated primary ovarian insufficiency (FXPOI): A preliminary study

Author keywords

Disorder; Epistasis; Menopause; Ovarian failure; Primary ovarian insufficiency; Repeat expansion

Indexed keywords

FRAGILE X MENTAL RETARDATION PROTEIN; MAMMALIAN TARGET OF RAPAMYCIN;

EID: 84906282544     PISSN: None     EISSN: 16648021     Source Type: Journal    
DOI: 10.3389/fgene.2014.00260     Document Type: Article
Times cited : (19)

References (59)
  • 1
    • 2542507386 scopus 로고    scopus 로고
    • A study of the distributional characteristics of FMR1 transcript levels in 238 individuals
    • doi: 10.1007/s00439-004-1086-x
    • Allen, E. G., He, W., Yadav-Shah, M., and Sherman, S. L. (2004). A study of the distributional characteristics of FMR1 transcript levels in 238 individuals. Hum. Genet. 114, 439-447. doi: 10.1007/s00439-004-1086-x
    • (2004) Hum. Genet. , vol.114 , pp. 439-447
    • Allen, E.G.1    He, W.2    Yadav-Shah, M.3    Sherman, S.L.4
  • 2
    • 34547813683 scopus 로고    scopus 로고
    • Examination of reproductive aging milestones among women who carry the FMR1 premutation
    • doi: 10.1093/humrep/dem148
    • Allen, E. G., Sullivan, A. K., Marcus, M., Small, C., Dominguez, C., Epstein, M. P., et al. (2007). Examination of reproductive aging milestones among women who carry the FMR1 premutation. Hum. Reprod. 22, 2142-2152. doi: 10.1093/humrep/dem148
    • (2007) Hum. Reprod. , vol.22 , pp. 2142-2152
    • Allen, E.G.1    Sullivan, A.K.2    Marcus, M.3    Small, C.4    Dominguez, C.5    Epstein, M.P.6
  • 3
    • 0033515496 scopus 로고    scopus 로고
    • Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study-preliminary data
    • Allingham-Hawkins, D. J., Babul-Hirji, R., Chitayat, D., Holden, J. J., Yang, K. T., Lee, C., et al. (1999). Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study-preliminary data. Am. J. Med. Genet. 83, 322-325.
    • (1999) Am. J. Med. Genet. , vol.83 , pp. 322-325
    • Allingham-Hawkins, D.J.1    Babul-Hirji, R.2    Chitayat, D.3    Holden, J.J.4    Yang, K.T.5    Lee, C.6
  • 4
    • 77956331627 scopus 로고    scopus 로고
    • Integrating common and rare genetic variation in diverse human populations
    • doi: 10.1038/nature09298
    • Altshuler, D. M., Gibbs, R. A., Peltonen, L., Altshuler, D. M., Gibbs, R. A., Peltonen, L., et al. (2010). Integrating common and rare genetic variation in diverse human populations. Nature 467, 52-58. doi: 10.1038/nature09298
    • (2010) Nature , vol.467 , pp. 52-58
    • Altshuler, D.M.1    Gibbs, R.A.2    Peltonen, L.3    Altshuler, D.M.4    Gibbs, R.A.5    Peltonen, L.6
  • 5
    • 33646808318 scopus 로고    scopus 로고
    • Postmenopausal status and early menopause as independent risk factors for cardiovascular disease: a meta-analysis
    • doi: 10.1097/01.gme.0000218683.97338.ea
    • Atsma, F., Bartelink, M. L., Grobbee, D. E., and van der Schouw, Y. T. (2006). Postmenopausal status and early menopause as independent risk factors for cardiovascular disease: a meta-analysis. Menopause 13, 265-279. doi: 10.1097/01.gme.0000218683.97338.ea
    • (2006) Menopause , vol.13 , pp. 265-279
    • Atsma, F.1    Bartelink, M.L.2    Grobbee, D.E.3    van der Schouw, Y.T.4
  • 6
    • 84862823849 scopus 로고    scopus 로고
    • MicroRNAs and ovarian function
    • doi: 10.1186/1757-2215-5-8
    • Baley, J., and Li, J. (2012). MicroRNAs and ovarian function. J. Ovarian Res. 5:8. doi: 10.1186/1757-2215-5-8
    • (2012) J. Ovarian Res. , vol.5 , pp. 8
    • Baley, J.1    Li, J.2
  • 7
    • 33744787331 scopus 로고    scopus 로고
    • Skewed X-chromosome inactivation is not associated with premature ovarian failure in a large cohort of Italian patients
    • doi: 10.1002/ajmg.a.31312
    • Bione, S., Benedetti, S., Goegan, M., Menditto, I., Marozzi, A., Ferrari, M., et al. (2006). Skewed X-chromosome inactivation is not associated with premature ovarian failure in a large cohort of Italian patients. Am. J. Med. Genet. A 140, 1349-1351. doi: 10.1002/ajmg.a.31312
    • (2006) Am. J. Med. Genet. A , vol.140 , pp. 1349-1351
    • Bione, S.1    Benedetti, S.2    Goegan, M.3    Menditto, I.4    Marozzi, A.5    Ferrari, M.6
  • 8
    • 0027375451 scopus 로고
    • Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test [published erratum appears in JAMA 1994 Jan 5;271(1):28]
    • doi: 10.1001/jama.1993.03510130075034
    • Brown, W. T., Houck, G. E. Jr., Jeziorowska, A., Levinson, F. N., Ding, X., Dobkin, C., et al. (1993). Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test [published erratum appears in JAMA 1994 Jan 5;271(1):28]. J. Am. Med. Assoc. 270, 1569-1575. doi: 10.1001/jama.1993.03510130075034
    • (1993) J. Am. Med. Assoc. , vol.270 , pp. 1569-1575
    • Brown, W.T.1    Houck Jr., G.E.2    Jeziorowska, A.3    Levinson, F.N.4    Ding, X.5    Dobkin, C.6
  • 10
    • 42449118477 scopus 로고    scopus 로고
    • Prevalence and instability of fragile X alleles: implications for offering fragile X prenatal diagnosis
    • doi: 10.1097/AOG.0b013e318163be0b
    • Cronister, A., Teicher, J., Rohlfs, E. M., Donnenfeld, A., and Hallam, S. (2008). Prevalence and instability of fragile X alleles: implications for offering fragile X prenatal diagnosis. Obstet. Gynecol. 111, 596-601. doi: 10.1097/AOG.0b013e318163be0b
    • (2008) Obstet. Gynecol. , vol.111 , pp. 596-601
    • Cronister, A.1    Teicher, J.2    Rohlfs, E.M.3    Donnenfeld, A.4    Hallam, S.5
  • 11
    • 45549108021 scopus 로고    scopus 로고
    • Reproductive health of adolescent girls who carry the fmr1 premutation: expected phenotype based on current knowledge of fragile x-associated primary ovarian insufficiency
    • doi: 10.1196/annals.1429.029
    • De Caro, J. J., Dominguez, C., and Sherman, S. L. (2008). Reproductive health of adolescent girls who carry the fmr1 premutation: expected phenotype based on current knowledge of fragile x-associated primary ovarian insufficiency. Ann. N.Y. Acad. Sci. 1135, 99-111. doi: 10.1196/annals.1429.029
    • (2008) Ann. N.Y. Acad. Sci. , vol.1135 , pp. 99-111
    • De Caro, J.J.1    Dominguez, C.2    Sherman, S.L.3
  • 12
    • 31344455020 scopus 로고    scopus 로고
    • Nonlinear association between CGG repeat number and age of menopause in FMR1 premutation carriers
    • doi: 10.1038/sj.ejhg.5201510
    • Ennis, S., Ward, D., and Murray, A. (2006). Nonlinear association between CGG repeat number and age of menopause in FMR1 premutation carriers. Eur. J. Hum. Genet. 14, 253-255. doi: 10.1038/sj.ejhg.5201510
    • (2006) Eur. J. Hum. Genet. , vol.14 , pp. 253-255
    • Ennis, S.1    Ward, D.2    Murray, A.3
  • 13
    • 34248149937 scopus 로고    scopus 로고
    • Effect of early menopause on bone mineral density and fractures
    • doi: 10.1097/gme.0b013e31804c793d
    • Gallagher, J. C. (2007). Effect of early menopause on bone mineral density and fractures. Menopause 14, 567-571. doi: 10.1097/gme.0b013e31804c793d
    • (2007) Menopause , vol.14 , pp. 567-571
    • Gallagher, J.C.1
  • 14
    • 34247360453 scopus 로고    scopus 로고
    • Analysis of FMR1 gene expression in female premutation carriers using robust segmented linear regression models
    • doi: 10.1261/rna.206307
    • Garcia-Alegria, E., Ibanez, B., Minguez, M., Poch, M., Valiente, A., Sanz-Parra, A., et al. (2007). Analysis of FMR1 gene expression in female premutation carriers using robust segmented linear regression models. RNA 13, 756-762. doi: 10.1261/rna.206307
    • (2007) RNA , vol.13 , pp. 756-762
    • Garcia-Alegria, E.1    Ibanez, B.2    Minguez, M.3    Poch, M.4    Valiente, A.5    Sanz-Parra, A.6
  • 15
    • 79953715693 scopus 로고    scopus 로고
    • Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel
    • doi: 10.1016/j.ajhg.2011.03.004
    • Gonzalez-Perez, A., and Lopez-Bigas, N. (2011). Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel. Am. J. Hum. Genet. 88, 440-449. doi: 10.1016/j.ajhg.2011.03.004
    • (2011) Am. J. Hum. Genet. , vol.88 , pp. 440-449
    • Gonzalez-Perez, A.1    Lopez-Bigas, N.2
  • 16
    • 0035838379 scopus 로고    scopus 로고
    • Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X
    • doi: 10.1212/WNL.57.1.127
    • Hagerman, R. J., Leehey, M., Heinrichs, W., Tassone, F., Wilson, R., Hills, J., et al. (2001). Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology 57, 127-130. doi: 10.1212/WNL.57.1.127
    • (2001) Neurology , vol.57 , pp. 127-130
    • Hagerman, R.J.1    Leehey, M.2    Heinrichs, W.3    Tassone, F.4    Wilson, R.5    Hills, J.6
  • 17
    • 66649090056 scopus 로고    scopus 로고
    • Genome-wide association studies identify loci associated with age at menarche and age at natural menopause
    • doi: 10.1038/ng.385
    • He, C., Kraft, P., Chen, C., Buring, J. E., Pare, G., Hankinson, S. E., et al. (2009). Genome-wide association studies identify loci associated with age at menarche and age at natural menopause. Nat. Genet. 41, 724-728. doi: 10.1038/ng.385
    • (2009) Nat. Genet. , vol.41 , pp. 724-728
    • He, C.1    Kraft, P.2    Chen, C.3    Buring, J.E.4    Pare, G.5    Hankinson, S.E.6
  • 18
    • 0035104929 scopus 로고    scopus 로고
    • Increased serum FSH in female fragile X premutation carriers with either regular menstrual cycles or on oral contraceptives
    • doi: 10.1093/humrep/16.3.457
    • Hundscheid, R. D., Braat, D. D., Kiemeney, L. A., Smits, A. P., and Thomas, C. M. (2001). Increased serum FSH in female fragile X premutation carriers with either regular menstrual cycles or on oral contraceptives. Hum. Reprod. 16, 457-462. doi: 10.1093/humrep/16.3.457
    • (2001) Hum. Reprod. , vol.16 , pp. 457-462
    • Hundscheid, R.D.1    Braat, D.D.2    Kiemeney, L.A.3    Smits, A.P.4    Thomas, C.M.5
  • 19
    • 51749122389 scopus 로고    scopus 로고
    • Fragile X-associated primary ovarian insufficiency: evidence for additional genetic contributions to severity
    • doi: 10.1002/gepi.20329
    • Hunter, J. E., Epstein, M. P., Tinker, S. W., Charen, K. H., and Sherman, S. L. (2008). Fragile X-associated primary ovarian insufficiency: evidence for additional genetic contributions to severity. Genet. Epidemiol. 32, 553-559. doi: 10.1002/gepi.20329
    • (2008) Genet. Epidemiol. , vol.32 , pp. 553-559
    • Hunter, J.E.1    Epstein, M.P.2    Tinker, S.W.3    Charen, K.H.4    Sherman, S.L.5
  • 20
    • 0037541419 scopus 로고    scopus 로고
    • Age at natural menopause and all-cause mortality: a 37-year follow-up of 19,731 Norwegian women
    • doi: 10.1093/aje/kwg066
    • Jacobsen, B. K., Heuch, I., and Kvale, G. (2003). Age at natural menopause and all-cause mortality: a 37-year follow-up of 19,731 Norwegian women. Am. J. Epidemiol. 157, 923-929. doi: 10.1093/aje/kwg066
    • (2003) Am. J. Epidemiol. , vol.157 , pp. 923-929
    • Jacobsen, B.K.1    Heuch, I.2    Kvale, G.3
  • 21
    • 77956288455 scopus 로고    scopus 로고
    • Hormonal influences on cognition and risk for Alzheimer's disease
    • doi: 10.1007/s11910-010-0122-6
    • Janicki, S. C., and Schupf, N. (2010). Hormonal influences on cognition and risk for Alzheimer's disease. Curr. Neurol. Neurosci. Rep. 10, 359-366. doi: 10.1007/s11910-010-0122-6
    • (2010) Curr. Neurol. Neurosci. Rep. , vol.10 , pp. 359-366
    • Janicki, S.C.1    Schupf, N.2
  • 22
    • 34547681603 scopus 로고    scopus 로고
    • Pur alpha binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a drosophila model of fragile X Tremor/Ataxia syndrome
    • doi: 10.1016/j.neuron.2007.07.020
    • Jin, P., Duan, R., Qurashi, A., Qin, Y., Tian, D., Rosser, T. C., et al. (2007). Pur alpha binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a drosophila model of fragile X Tremor/Ataxia syndrome. Neuron 55, 556-564. doi: 10.1016/j.neuron.2007.07.020
    • (2007) Neuron , vol.55 , pp. 556-564
    • Jin, P.1    Duan, R.2    Qurashi, A.3    Qin, Y.4    Tian, D.5    Rosser, T.C.6
  • 23
    • 4043056380 scopus 로고    scopus 로고
    • Impaired endothelial function in young women with premature ovarian failure: normalization with hormone therapy
    • doi: 10.1210/jc.2004-0015
    • Kalantaridou, S. N., Naka, K. K., Papanikolaou, E., Kazakos, N., Kravariti, M., Calis, K. A., et al. (2004). Impaired endothelial function in young women with premature ovarian failure: normalization with hormone therapy. J. Clin. Endocrinol. Metab. 89, 3907-3913. doi: 10.1210/jc.2004-0015
    • (2004) J. Clin. Endocrinol. Metab. , vol.89 , pp. 3907-3913
    • Kalantaridou, S.N.1    Naka, K.K.2    Papanikolaou, E.3    Kazakos, N.4    Kravariti, M.5    Calis, K.A.6
  • 24
    • 0035394437 scopus 로고    scopus 로고
    • Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers
    • doi: 10.1093/hmg/10.14.1449
    • Kenneson, A., Zhang, F., Hagedorn, C. H., and Warren, S. T. (2001). Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers. Hum. Mol. Genet 10, 1449-1454. doi: 10.1093/hmg/10.14.1449
    • (2001) Hum. Mol. Genet , vol.10 , pp. 1449-1454
    • Kenneson, A.1    Zhang, F.2    Hagedorn, C.H.3    Warren, S.T.4
  • 25
    • 84869025102 scopus 로고    scopus 로고
    • Fragile X premutation RNA is sufficient to cause primary ovarian insufficiency in mice
    • doi: 10.1093/hmg/dds348
    • Lu, C., Lin, L., Tan, H., Wu, H., Sherman, S. L., Gao, F., et al. (2012). Fragile X premutation RNA is sufficient to cause primary ovarian insufficiency in mice. Hum. Mol. Genet. 21, 5039-5047. doi: 10.1093/hmg/dds348
    • (2012) Hum. Mol. Genet. , vol.21 , pp. 5039-5047
    • Lu, C.1    Lin, L.2    Tan, H.3    Wu, H.4    Sherman, S.L.5    Gao, F.6
  • 26
    • 0035098593 scopus 로고    scopus 로고
    • Implications of the FMR1 gene in menopause: study of 147 Spanish women
    • doi: 10.1097/00042192-200103000-00005
    • Mallolas, J., Duran, M., Sanchez, A., Jimenez, D., Castellvi-Bel, S., Rife, M., et al. (2001). Implications of the FMR1 gene in menopause: study of 147 Spanish women. Menopause 8, 106-110. doi: 10.1097/00042192-200103000-00005
    • (2001) Menopause , vol.8 , pp. 106-110
    • Mallolas, J.1    Duran, M.2    Sanchez, A.3    Jimenez, D.4    Castellvi-Bel, S.5    Rife, M.6
  • 27
    • 38949150124 scopus 로고    scopus 로고
    • Genetic investigation of four meiotic genes in women with premature ovarian failure
    • doi: 10.1530/EJE-07-0400
    • Mandon-Pepin, B., Touraine, P., Kuttenn, F., Derbois, C., Rouxel, A., Matsuda, F., et al. (2008). Genetic investigation of four meiotic genes in women with premature ovarian failure. Eur. J. Endocrinol. 158, 107-115. doi: 10.1530/EJE-07-0400
    • (2008) Eur. J. Endocrinol. , vol.158 , pp. 107-115
    • Mandon-Pepin, B.1    Touraine, P.2    Kuttenn, F.3    Derbois, C.4    Rouxel, A.5    Matsuda, F.6
  • 28
    • 0033982829 scopus 로고    scopus 로고
    • Association between idiopathic premature ovarian failure and fragile X premutation
    • doi: 10.1093/humrep/15.1.197
    • Marozzi, A., Vegetti, W., Manfredini, E., Tibiletti, M. G., Testa, G., Crosignani, P. G., et al. (2000). Association between idiopathic premature ovarian failure and fragile X premutation. Hum. Reprod. 15, 197-202. doi: 10.1093/humrep/15.1.197
    • (2000) Hum. Reprod. , vol.15 , pp. 197-202
    • Marozzi, A.1    Vegetti, W.2    Manfredini, E.3    Tibiletti, M.G.4    Testa, G.5    Crosignani, P.G.6
  • 29
    • 0029955568 scopus 로고    scopus 로고
    • Survey of the fragile X syndrome and the fragile X E syndrome in a special education needs population
    • Meadows, K. L., Pettay, D., Newman, J., Hersey, J., Ashley, A. E., and Sherman, S. L. (1996). Survey of the fragile X syndrome and the fragile X E syndrome in a special education needs population. Am. J. Med. Genet. 64, 428-433.
    • (1996) Am. J. Med. Genet. , vol.64 , pp. 428-433
    • Meadows, K.L.1    Pettay, D.2    Newman, J.3    Hersey, J.4    Ashley, A.E.5    Sherman, S.L.6
  • 30
    • 28544436255 scopus 로고    scopus 로고
    • Age at natural menopause and cause-specific mortality
    • doi: 10.1093/aje/kwi324
    • Mondul, A. M., Rodriguez, C., Jacobs, E. J., and Calle, E. E. (2005). Age at natural menopause and cause-specific mortality. Am. J. Epidemiol. 162, 1089-1097. doi: 10.1093/aje/kwi324
    • (2005) Am. J. Epidemiol. , vol.162 , pp. 1089-1097
    • Mondul, A.M.1    Rodriguez, C.2    Jacobs, E.J.3    Calle, E.E.4
  • 31
    • 0034128910 scopus 로고    scopus 로고
    • Reproductive and menstrual history of females with fragile X expansions
    • doi: 10.1038/sj.ejhg.5200451
    • Murray, A., Ennis, S., MacSwiney, F., Webb, J., and Morton, N. E. (2000). Reproductive and menstrual history of females with fragile X expansions. Eur. J. Hum. Genet. 8, 247-252. doi: 10.1038/sj.ejhg.5200451
    • (2000) Eur. J. Hum. Genet. , vol.8 , pp. 247-252
    • Murray, A.1    Ennis, S.2    MacSwiney, F.3    Webb, J.4    Morton, N.E.5
  • 32
    • 0031857007 scopus 로고    scopus 로고
    • Studies of FRAXA and FRAXE in women with premature ovarian failure
    • doi: 10.1136/jmg.35.8.637
    • Murray, A., Webb, J., Grimley, S., Conway, G., and Jacobs, P. (1998). Studies of FRAXA and FRAXE in women with premature ovarian failure. J. Med. Genet. 35, 637-640. doi: 10.1136/jmg.35.8.637
    • (1998) J. Med. Genet. , vol.35 , pp. 637-640
    • Murray, A.1    Webb, J.2    Grimley, S.3    Conway, G.4    Jacobs, P.5
  • 33
    • 31944435213 scopus 로고    scopus 로고
    • Dynamic anchoring of PKA is essential during oocyte maturation
    • doi: 10.1016/j.cub.2005.12.031
    • Newhall, K. J., Criniti, A. R., Cheah, C. S., Smith, K. C., Kafer, K. E., Burkart, A. D., et al. (2006). Dynamic anchoring of PKA is essential during oocyte maturation. Curr. Biol. 16, 321-327. doi: 10.1016/j.cub.2005.12.031
    • (2006) Curr. Biol. , vol.16 , pp. 321-327
    • Newhall, K.J.1    Criniti, A.R.2    Cheah, C.S.3    Smith, K.C.4    Kafer, K.E.5    Burkart, A.D.6
  • 34
    • 84877038087 scopus 로고    scopus 로고
    • A-kinase anchor protein 1 (AKAP1) regulates cAMP-dependent protein kinase (PKA) localization and is involved in meiotic maturation of porcine oocytes
    • doi: 10.1095/biolreprod.112.106351
    • Nishimura, T., Sugiura, K., and Naito, K. (2013). A-kinase anchor protein 1 (AKAP1) regulates cAMP-dependent protein kinase (PKA) localization and is involved in meiotic maturation of porcine oocytes. Biol. Reprod. 88, 85. doi: 10.1095/biolreprod.112.106351
    • (2013) Biol. Reprod. , vol.88 , pp. 85
    • Nishimura, T.1    Sugiura, K.2    Naito, K.3
  • 35
    • 76149090495 scopus 로고    scopus 로고
    • Examination of FMR1 transcript and protein levels among 74 premutation carriers
    • doi: 10.1038/jhg.2009.121
    • Peprah, E., He, W., Allen, E., Oliver, T., Boyne, A., and Sherman, S. L. (2010). Examination of FMR1 transcript and protein levels among 74 premutation carriers. J. Hum. Genet. 55, 66-68. doi: 10.1038/jhg.2009.121
    • (2010) J. Hum. Genet. , vol.55 , pp. 66-68
    • Peprah, E.1    He, W.2    Allen, E.3    Oliver, T.4    Boyne, A.5    Sherman, S.L.6
  • 36
    • 84875243624 scopus 로고    scopus 로고
    • A genome-wide association study of early menopause and the combined impact of identified variants
    • doi: 10.1093/hmg/dds551
    • Perry, J. R., Corre, T., Esko, T., Chasman, D. I., Fischer, K., Franceschini, N., et al. (2013). A genome-wide association study of early menopause and the combined impact of identified variants. Hum. Mol. Genet. 22, 1465-1472. doi: 10.1093/hmg/dds551
    • (2013) Hum. Mol. Genet. , vol.22 , pp. 1465-1472
    • Perry, J.R.1    Corre, T.2    Esko, T.3    Chasman, D.I.4    Fischer, K.5    Franceschini, N.6
  • 37
    • 21644489751 scopus 로고    scopus 로고
    • GREB 1 is a critical regulator of hormone dependent breast cancer growth
    • doi: 10.1007/s10549-005-1483-4
    • Rae, J. M., Johnson, M. D., Scheys, J. O., Cordero, K. E., Larios, J. M., and Lippman, M. E. (2005). GREB 1 is a critical regulator of hormone dependent breast cancer growth. Breast Cancer Res. Treat. 92, 141-149. doi: 10.1007/s10549-005-1483-4
    • (2005) Breast Cancer Res. Treat. , vol.92 , pp. 141-149
    • Rae, J.M.1    Johnson, M.D.2    Scheys, J.O.3    Cordero, K.E.4    Larios, J.M.5    Lippman, M.E.6
  • 38
    • 73349120934 scopus 로고    scopus 로고
    • Premature ovarian failure and fragile X female premutation carriers: no evidence for a skewed X-chromosome inactivation pattern
    • doi: 10.1097/gme.0b013e3181a06a37
    • Rodriguez-Revenga, L., Madrigal, I., Badenas, C., Xuncla, M., Jimenez, L., and Mila, M. (2009). Premature ovarian failure and fragile X female premutation carriers: no evidence for a skewed X-chromosome inactivation pattern. Menopause 16, 944-949. doi: 10.1097/gme.0b013e3181a06a37
    • (2009) Menopause , vol.16 , pp. 944-949
    • Rodriguez-Revenga, L.1    Madrigal, I.2    Badenas, C.3    Xuncla, M.4    Jimenez, L.5    Mila, M.6
  • 39
    • 44449134920 scopus 로고    scopus 로고
    • Anti-Mullerian hormone indicates early ovarian decline in fragile X mental retardation (FMR1) premutation carriers: a preliminary study
    • doi: 10.1093/humrep/den050
    • Rohr, J., Allen, E. G., Charen, K., Giles, J., He, W., Dominguez, C., et al. (2008). Anti-Mullerian hormone indicates early ovarian decline in fragile X mental retardation (FMR1) premutation carriers: a preliminary study. Hum. Reprod. 23, 1220-1225. doi: 10.1093/humrep/den050
    • (2008) Hum. Reprod. , vol.23 , pp. 1220-1225
    • Rohr, J.1    Allen, E.G.2    Charen, K.3    Giles, J.4    He, W.5    Dominguez, C.6
  • 40
    • 0028237295 scopus 로고
    • Obstetrical and gynecological complications in fragile X carriers: a multicenter study
    • doi: 10.1002/ajmg.1320510419
    • Schwartz, C. E., Dean, J., Howard-Peebles, P. N., Bugge, M., Mikkelsen, M., Tommerup, N., et al. (1994). Obstetrical and gynecological complications in fragile X carriers: a multicenter study. Am. J. Med. Genet. 51, 400-402. doi: 10.1002/ajmg.1320510419
    • (1994) Am. J. Med. Genet. , vol.51 , pp. 400-402
    • Schwartz, C.E.1    Dean, J.2    Howard-Peebles, P.N.3    Bugge, M.4    Mikkelsen, M.5    Tommerup, N.6
  • 41
    • 84875804170 scopus 로고    scopus 로고
    • Sequestration of DROSHA and DGCR8 by expanded CGG RNA repeats alters microRNA processing in fragile X-associated tremor/ataxia syndrome
    • doi: 10.1016/j.celrep.2013.02.004
    • Sellier, C., Freyermuth, F., Tabet, R., Tran, T., He, F., Ruffenach, F., et al. (2013). Sequestration of DROSHA and DGCR8 by expanded CGG RNA repeats alters microRNA processing in fragile X-associated tremor/ataxia syndrome. Cell Rep. 3, 869-880. doi: 10.1016/j.celrep.2013.02.004
    • (2013) Cell Rep. , vol.3 , pp. 869-880
    • Sellier, C.1    Freyermuth, F.2    Tabet, R.3    Tran, T.4    He, F.5    Ruffenach, F.6
  • 42
    • 77950529507 scopus 로고    scopus 로고
    • Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients
    • doi: 10.1038/emboj.2010.21
    • Sellier, C., Rau, F., Liu, Y., Tassone, F., Hukema, R. K., Gattoni, R., et al. (2010). Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients. EMBO J. 29, 1248-1261. doi: 10.1038/emboj.2010.21
    • (2010) EMBO J. , vol.29 , pp. 1248-1261
    • Sellier, C.1    Rau, F.2    Liu, Y.3    Tassone, F.4    Hukema, R.K.5    Gattoni, R.6
  • 44
    • 84875435450 scopus 로고    scopus 로고
    • Evaluating GWAS-identified SNPs for age at natural menopause among chinese women
    • doi: 10.1371/journal.pone.0058766
    • Shen, C., Delahanty, R. J., Gao, Y. T., Lu, W., Xiang, Y. B., Zheng, Y., et al. (2013). Evaluating GWAS-identified SNPs for age at natural menopause among chinese women. PLoS ONE 8:e58766. doi: 10.1371/journal.pone.0058766
    • (2013) PLoS ONE , vol.8
    • Shen, C.1    Delahanty, R.J.2    Gao, Y.T.3    Lu, W.4    Xiang, Y.B.5    Zheng, Y.6
  • 45
    • 0034522229 scopus 로고    scopus 로고
    • Seminars in genetics: premature ovarian failure in the fragile X syndrome
    • doi: 10.1002/1096-8628(200023)97:3<189::AID-AJMG1036>3.0.CO;2-J
    • Sherman, S. L. (2000). Seminars in genetics: premature ovarian failure in the fragile X syndrome. Am. J. Med. Genet. 97 189-195. doi: 10.1002/1096-8628(200023)97:3<189::AID-AJMG1036>3.0.CO;2-J
    • (2000) Am. J. Med. Genet , vol.97 , pp. 189-195
    • Sherman, S.L.1
  • 46
    • 23744458086 scopus 로고    scopus 로고
    • Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes
    • doi: 10.1101/gr.3715005
    • Siepel, A., Bejerano, G., Pedersen, J. S., Hinrichs, A. S., Hou, M., Rosenbloom, K., et al. (2005). Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes. Genome Res. 15, 1034-1050. doi: 10.1101/gr.3715005
    • (2005) Genome Res. , vol.15 , pp. 1034-1050
    • Siepel, A.1    Bejerano, G.2    Pedersen, J.S.3    Hinrichs, A.S.4    Hou, M.5    Rosenbloom, K.6
  • 47
    • 34547697173 scopus 로고    scopus 로고
    • RNA-binding proteins hnRNP A2/B1 and CUGBP1 suppress fragile X CGG premutation repeat-induced neurodegeneration in a Drosophila model of FXTAS
    • doi: 10.1016/j.neuron.2007.07.021
    • Sofola, O. A., Jin, P., Qin, Y., Duan, R., Liu, H., De Haro, M., et al. (2007). RNA-binding proteins hnRNP A2/B1 and CUGBP1 suppress fragile X CGG premutation repeat-induced neurodegeneration in a Drosophila model of FXTAS. Neuron 55, 565-571. doi: 10.1016/j.neuron.2007.07.021
    • (2007) Neuron , vol.55 , pp. 565-571
    • Sofola, O.A.1    Jin, P.2    Qin, Y.3    Duan, R.4    Liu, H.5    De Haro, M.6
  • 48
    • 79960530032 scopus 로고    scopus 로고
    • Intra-individual stability over time of standardized anti-Mullerian hormone in FMR1 premutation carriers
    • doi: 10.1093/humrep/der146
    • Spath, M. A., Feuth, T. B., Allen, E. G., Smits, A. P., Yntema, H. G., van Kessel, A. G., et al. (2011a). Intra-individual stability over time of standardized anti-Mullerian hormone in FMR1 premutation carriers. Hum. Reprod. 26, 2185-2191. doi: 10.1093/humrep/der146
    • (2011) Hum. Reprod. , vol.26 , pp. 2185-2191
    • Spath, M.A.1    Feuth, T.B.2    Allen, E.G.3    Smits, A.P.4    Yntema, H.G.5    van Kessel, A.G.6
  • 49
    • 79960842942 scopus 로고    scopus 로고
    • Predictors and risk model development for menopausal age in fragile X premutation carriers
    • doi: 10.1097/GIM.0b013e31821705e5
    • Spath, M. A., Feuth, T. B., Smits, A. P., Yntema, H. G., Braat, D. D., Thomas, C. M., et al. (2011b). Predictors and risk model development for menopausal age in fragile X premutation carriers. Genet. Med. 13, 643-650. doi: 10.1097/GIM.0b013e31821705e5
    • (2011) Genet. Med. , vol.13 , pp. 643-650
    • Spath, M.A.1    Feuth, T.B.2    Smits, A.P.3    Yntema, H.G.4    Braat, D.D.5    Thomas, C.M.6
  • 50
    • 75449113201 scopus 로고    scopus 로고
    • X chromosome inactivation does not define the development of premature ovarian failure in fragile X premutation carriers
    • doi: 10.1002/ajmg.a.33243
    • Spath, M. A., Nillesen, W. N., Smits, A. P., Feuth, T. B., Braat, D. D., van Kessel, A. G., et al. (2010). X chromosome inactivation does not define the development of premature ovarian failure in fragile X premutation carriers. Am. J. Med. Genet. A 152A, 387-393. doi: 10.1002/ajmg.a.33243
    • (2010) Am. J. Med. Genet. A , vol.152 A , pp. 387-393
    • Spath, M.A.1    Nillesen, W.N.2    Smits, A.P.3    Feuth, T.B.4    Braat, D.D.5    van Kessel, A.G.6
  • 51
    • 84862777492 scopus 로고    scopus 로고
    • Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways
    • doi: 10.1038/ng.1051
    • Stolk, L., Perry, J. R., Chasman, D. I., He, C., Mangino, M., Sulem, P., et al. (2012). Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. Nat. Genet. 44, 260-268. doi: 10.1038/ng.1051
    • (2012) Nat. Genet. , vol.44 , pp. 260-268
    • Stolk, L.1    Perry, J.R.2    Chasman, D.I.3    He, C.4    Mangino, M.5    Sulem, P.6
  • 52
    • 66649089490 scopus 로고    scopus 로고
    • Loci at chromosomes 13, 19 and 20 influence age at natural menopause
    • doi: 10.1038/ng.387
    • Stolk, L., Zhai, G., van Meurs, J. B., Verbiest, M. M., Visser, J. A., Estrada, K., et al. (2009). Loci at chromosomes 13, 19 and 20 influence age at natural menopause. Nat. Genet. 41, 645-647. doi: 10.1038/ng.387
    • (2009) Nat. Genet. , vol.41 , pp. 645-647
    • Stolk, L.1    Zhai, G.2    van Meurs, J.B.3    Verbiest, M.M.4    Visser, J.A.5    Estrada, K.6
  • 53
    • 14044268841 scopus 로고    scopus 로고
    • Association of FMR1 repeat size with ovarian dysfunction
    • doi: 10.1093/humrep/deh635
    • Sullivan, A. K., Marcus, M., Epstein, M. P., Allen, E. G., Anido, A. E., Paquin, J. J., et al. (2005). Association of FMR1 repeat size with ovarian dysfunction. Hum. Reprod. 20, 402-412. doi: 10.1093/humrep/deh635
    • (2005) Hum. Reprod. , vol.20 , pp. 402-412
    • Sullivan, A.K.1    Marcus, M.2    Epstein, M.P.3    Allen, E.G.4    Anido, A.E.5    Paquin, J.J.6
  • 54
    • 84856604388 scopus 로고    scopus 로고
    • FMR1 and the continuum of primary ovarian insufficiency
    • doi: 10.1055/s-0031-1280915
    • Sullivan, S. D., Welt, C., and Sherman, S. (2011). FMR1 and the continuum of primary ovarian insufficiency. Semin. Reprod. Med. 29, 299-307. doi: 10.1055/s-0031-1280915
    • (2011) Semin. Reprod. Med. , vol.29 , pp. 299-307
    • Sullivan, S.D.1    Welt, C.2    Sherman, S.3
  • 55
    • 33947722883 scopus 로고    scopus 로고
    • Elevated FMR1 mRNA in premutation carriers is due to increased transcription
    • doi: 10.1261/rna.280807
    • Tassone, F., Beilina, A., Carosi, C., Albertosi, S., Bagni, C., Li, L., et al. (2007). Elevated FMR1 mRNA in premutation carriers is due to increased transcription. RNA 13, 555-562. doi: 10.1261/rna.280807
    • (2007) RNA , vol.13 , pp. 555-562
    • Tassone, F.1    Beilina, A.2    Carosi, C.3    Albertosi, S.4    Bagni, C.5    Li, L.6
  • 56
    • 58249086882 scopus 로고    scopus 로고
    • Analysis of the molecular parameters that could predict the risk of manifesting premature ovarian failure in female premutation carriers of fragile X syndrome
    • doi: 10.1097/gme.0b013e3181647762
    • Tejada, M. I., Garcia-Alegria, E., Bilbao, A., Martinez-Bouzas, C., Beristain, E., Poch, M., et al. (2008). Analysis of the molecular parameters that could predict the risk of manifesting premature ovarian failure in female premutation carriers of fragile X syndrome. Menopause 15, 945-949. doi: 10.1097/gme.0b013e3181647762
    • (2008) Menopause , vol.15 , pp. 945-949
    • Tejada, M.I.1    Garcia-Alegria, E.2    Bilbao, A.3    Martinez-Bouzas, C.4    Beristain, E.5    Poch, M.6
  • 57
    • 38049059311 scopus 로고    scopus 로고
    • Decreased androgen concentrations and diminished general and sexual well-being in women with premature ovarian failure
    • doi: 10.1097/gme.0b013e3180f6108c
    • van der Stege, J. G., Groen, H., van Zadelhoff, S. J., Lambalk, C. B., Braat, D. D., van Kasteren, Y. M., et al. (2008). Decreased androgen concentrations and diminished general and sexual well-being in women with premature ovarian failure. Menopause 15, 23-31. doi: 10.1097/gme.0b013e3180f6108c
    • (2008) Menopause , vol.15 , pp. 23-31
    • van der Stege, J.G.1    Groen, H.2    van Zadelhoff, S.J.3    Lambalk, C.B.4    Braat, D.D.5    van Kasteren, Y.M.6
  • 58
    • 40749100654 scopus 로고    scopus 로고
    • Primary ovarian insufficiency: a more accurate term for premature ovarian failure
    • doi: 10.1111/j.1365-2265.2007.03073.x
    • Welt, C. K. (2008). Primary ovarian insufficiency: a more accurate term for premature ovarian failure. Clin. Endocrinol. (Oxf.) 68, 499-509. doi: 10.1111/j.1365-2265.2007.03073.x
    • (2008) Clin. Endocrinol. (Oxf.) , vol.68 , pp. 499-509
    • Welt, C.K.1
  • 59
    • 4544294975 scopus 로고    scopus 로고
    • Evidence of early ovarian aging in fragile X premutation carriers
    • doi: 10.1210/jc.2004-0347
    • Welt, C. K., Smith, P. C., and Taylor, A. E. (2004). Evidence of early ovarian aging in fragile X premutation carriers. J. Clin. Endocrinol. Metab. 89, 4569-4574. doi: 10.1210/jc.2004-0347
    • (2004) J. Clin. Endocrinol. Metab. , vol.89 , pp. 4569-4574
    • Welt, C.K.1    Smith, P.C.2    Taylor, A.E.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.