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Volumn 97, Issue 1, 2012, Pages

Limited contribution of NR5A1 (SF-1) mutations in women with primary ovarian insufficiency (POI)

Author keywords

NR5A1; POI; Primary ovarian insufficiency; SF 1; steroidogenic factor 1

Indexed keywords

NR5A1 PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

EID: 84155169072     PISSN: 00150282     EISSN: 15565653     Source Type: Journal    
DOI: 10.1016/j.fertnstert.2011.10.032     Document Type: Article
Times cited : (35)

References (38)
  • 1
    • 0019799853 scopus 로고
    • Menstrual cyclicity and the pre-menopause
    • DOI 10.1016/0378-5122(81)90032-3
    • A.E. Treloar Menstrual cyclicity and the pre-menopause Maturitas 3 1981 249 264 (Pubitemid 12145694)
    • (1981) Maturitas , vol.3 , Issue.3-4 , pp. 249-264
    • Treloar, A.E.1
  • 3
    • 77956617098 scopus 로고    scopus 로고
    • Primary ovarian insufficiency
    • M. de Vos, P. Devroey, and B.C. Fauser Primary ovarian insufficiency Lancet 376 2010 911 921
    • (2010) Lancet , vol.376 , pp. 911-921
    • De Vos, M.1    Devroey, P.2    Fauser, B.C.3
  • 5
    • 0029866755 scopus 로고    scopus 로고
    • Age at menopause as a risk factor for cardiovascular mortality
    • DOI 10.1016/S0140-6736(96)90075-6
    • Y.T. van der Schouw, Y. van der Graaf, E.W. Steyerberg, J.C. Eijkemans, and J.D. Banga Age at menopause as a risk factor for cardiovascular mortality Lancet 347 1996 714 718 (Pubitemid 26085645)
    • (1996) Lancet , vol.347 , Issue.9003 , pp. 714-718
    • Van Der Schouw, Y.T.1    Van Der Graaf, Y.2    Steyerberg, E.W.3    Eijkemans, M.J.C.4    Banga, J.D.5
  • 8
    • 38049059311 scopus 로고    scopus 로고
    • Decreased androgen concentrations and diminished general and sexual well-being in women with premature ovarian failure
    • J.G. van der Stege, H. Groen, S.J. van Zadelhoff, C.B. Lambalk, D.D. Braat, and Y.M. van Kasteren Decreased androgen concentrations and diminished general and sexual well-being in women with premature ovarian failure Menopause 15 2008 23 31
    • (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
  • 9
    • 34948829010 scopus 로고    scopus 로고
    • Increased risk of cognitive impairment or dementia in women who underwent oophorectomy before menopause
    • DOI 10.1212/01.wnl.0000276984.19542.e6
    • W.A. Rocca, J.H. Bower, D.M. Maraganore, J.E. Ahlskog, B.R. Grossardt, and M. de Andrade Increased risk of cognitive impairment or dementia in women who underwent oophorectomy before menopause Neurology 69 2007 1074 1083 (Pubitemid 47517552)
    • (2007) Neurology , vol.69 , Issue.11 , pp. 1074-1083
    • Rocca, W.A.1    Bower, J.H.2    Maraganore, D.M.3    Ahlskog, J.E.4    Grossardt, B.R.5    De Andrade, M.6    Melton, L.J.7
  • 12
    • 77954958178 scopus 로고    scopus 로고
    • Similar phenotype characteristics comparing familial and sporadic premature ovarian failure
    • F. Janse, E.A. Knauff, M.F. Niermeijer, M.J. Eijkemans, J.S. Laven, and C.B. Lambalk Similar phenotype characteristics comparing familial and sporadic premature ovarian failure Menopause 17 2010 758 765
    • (2010) Menopause , vol.17 , pp. 758-765
    • Janse, F.1    Knauff, E.A.2    Niermeijer, M.F.3    Eijkemans, M.J.4    Laven, J.S.5    Lambalk, C.B.6
  • 14
    • 45549085708 scopus 로고    scopus 로고
    • Autoimmune oophoritis in the adolescent
    • DOI 10.1196/annals.1429.006, The Menstrual Cycle and Adolescent Health
    • C.K. Welt Autoimmune oophoritis in the adolescent Ann N Y Acad Sci 1135 2008 118 122 (Pubitemid 351862122)
    • (2008) Annals of the New York Academy of Sciences , vol.1135 , pp. 118-122
    • Welt, C.K.1
  • 15
    • 0020367269 scopus 로고
    • X-autosome translocations: Cytogenetic characteristics and their consequences
    • M.G. Mattei, J.F. Mattei, S. Ayme, and F. Giraud X-autosome translocations: cytogenetic characteristics and their consequences Hum Genet 61 1982 295 309 (Pubitemid 13196871)
    • (1982) Human Genetics , vol.61 , Issue.4 , pp. 295-309
    • Mattei, M.G.1    Mattei, J.F.2    Ayme, S.3    Giraud, F.4
  • 17
    • 66749092996 scopus 로고    scopus 로고
    • BMP15 mutations associated with primary ovarian insufficiency cause a defective production of bioactive protein
    • R. Rossetti, E. Di Pasquale, A. Marozzi, S. Bione, D. Toniolo, and P. Grammatico BMP15 mutations associated with primary ovarian insufficiency cause a defective production of bioactive protein Hum Mutat 30 2009 804 810
    • (2009) Hum Mutat , vol.30 , pp. 804-810
    • Rossetti, R.1    Di Pasquale, E.2    Marozzi, A.3    Bione, S.4    Toniolo, D.5    Grammatico, P.6
  • 22
    • 77952744975 scopus 로고    scopus 로고
    • Genome-wide association study and premature ovarian failure
    • S. Christin-Maitre, and G. Tachdjian Genome-wide association study and premature ovarian failure Ann Endocrinol (Paris) 71 2010 218 221
    • (2010) Ann Endocrinol (Paris) , vol.71 , pp. 218-221
    • Christin-Maitre, S.1    Tachdjian, G.2
  • 23
    • 68949210498 scopus 로고    scopus 로고
    • Genome-wide association study in premature ovarian failure patients suggests ADAMTS19 as a possible candidate gene
    • E.A. Knauff, L. Franke, M.A. van Es, L.H. van den Berg, Y.T. van der Schouw, and J.S. Laven Genome-wide association study in premature ovarian failure patients suggests ADAMTS19 as a possible candidate gene Hum Reprod 24 2009 2372 2378
    • (2009) Hum Reprod , vol.24 , pp. 2372-2378
    • Knauff, E.A.1    Franke, L.2    Van Es, M.A.3    Van Den Berg, L.H.4    Van Der Schouw, Y.T.5    Laven, J.S.6
  • 24
    • 79952990252 scopus 로고    scopus 로고
    • Copy number variants on the X chromosome in women with primary ovarian insufficiency
    • E.A. Knauff, H.M. Blauw, P.L. Pearson, K. Kok, C. Wijmenga, and J.H. Veldink Copy number variants on the X chromosome in women with primary ovarian insufficiency Fertil Steril 95 2011 1584 1588
    • (2011) Fertil Steril , vol.95 , pp. 1584-1588
    • Knauff, E.A.1    Blauw, H.M.2    Pearson, P.L.3    Kok, K.4    Wijmenga, C.5    Veldink, J.H.6
  • 25
    • 67650767033 scopus 로고    scopus 로고
    • Phenotyping and genetic studies of 357 consecutive patients presenting premature ovarian failure
    • A. Bachelot, A. Rouxel, N. Massin, J. Dulon, C. Courtillot, and C. Matuchansky Phenotyping and genetic studies of 357 consecutive patients presenting premature ovarian failure Eur J Endocrinol 161 2009 179 187
    • (2009) Eur J Endocrinol , vol.161 , pp. 179-187
    • Bachelot, A.1    Rouxel, A.2    Massin, N.3    Dulon, J.4    Courtillot, C.5    Matuchansky, C.6
  • 27
    • 0032990419 scopus 로고    scopus 로고
    • A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans [1]
    • DOI 10.1038/9629
    • J.C. Achermann, M. Ito, M. Ito, P.C. Hindmarsh, and J.L. Jameson A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans Nat Genet 22 1999 125 126 (Pubitemid 29264799)
    • (1999) Nature Genetics , vol.22 , Issue.2 , pp. 125-126
    • Achermann, J.C.1    Ito, M.2    Ito, M.3    Hindmarsh, P.C.4    Jameson, J.L.5
  • 29
    • 0033623571 scopus 로고    scopus 로고
    • Apparently normal ovarian differentiation in a prepubertal girl with transcriptionally inactive steroidogenic factor 1 (NR5A1/SF-1) and adrenocortical insufficiency
    • A. Biason-Lauber, and E.J. Schoenle Apparently normal ovarian differentiation in a prepubertal girl with transcriptionally inactive steroidogenic factor 1 (NR5A1/SF-1) and adrenocortical insufficiency Am J Hum Genet 67 2000 1563 1568
    • (2000) Am J Hum Genet , vol.67 , pp. 1563-1568
    • Biason-Lauber, A.1    Schoenle, E.J.2
  • 30
    • 55749088979 scopus 로고    scopus 로고
    • Steroidogenic factor-1 (SF-1, Ad4BP, NR5A1) and disorders of testis development
    • L. Lin, and J.C. Achermann Steroidogenic factor-1 (SF-1, Ad4BP, NR5A1) and disorders of testis development Sex Dev 2 2008 200 209
    • (2008) Sex Dev , vol.2 , pp. 200-209
    • Lin, L.1    Achermann, J.C.2
  • 31
    • 68349149348 scopus 로고    scopus 로고
    • The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46, XY males without adrenal insufficiency
    • B. Köhler, L. Lin, I. Mazen, C. Cetindag, H. Biebermann, and I. Akkurt The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46, XY males without adrenal insufficiency Eur J Endocrinol 161 2009 237 242
    • (2009) Eur J Endocrinol , vol.161 , pp. 237-242
    • Köhler, B.1    Lin, L.2    Mazen, I.3    Cetindag, C.4    Biebermann, H.5    Akkurt, I.6
  • 35
    • 33644537810 scopus 로고    scopus 로고
    • Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral
    • S.V. Tavtigian, A.M. Deffenbaugh, L. Yin, T. Judkins, T. Scholl, and P.B. Samollow Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral J Med Genet 43 2006 295 305
    • (2006) J Med Genet , vol.43 , pp. 295-305
    • Tavtigian, S.V.1    Deffenbaugh, A.M.2    Yin, L.3    Judkins, T.4    Scholl, T.5    Samollow, P.B.6
  • 37
    • 56749095557 scopus 로고    scopus 로고
    • A genome-wide linkage scan in a Dutch family identifies a premature ovarian failure susceptibility locus
    • R.A. Oldenburg, M.F. van Dooren, B. de Graaf, E. Simons, L. Govaerts, and S. Swagemakers A genome-wide linkage scan in a Dutch family identifies a premature ovarian failure susceptibility locus Hum Reprod 23 2008 2835 2841
    • (2008) Hum Reprod , vol.23 , pp. 2835-2841
    • Oldenburg, R.A.1    Van Dooren, M.F.2    De Graaf, B.3    Simons, E.4    Govaerts, L.5    Swagemakers, S.6
  • 38
    • 33747644339 scopus 로고    scopus 로고
    • Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: Ten years' experience
    • DOI 10.1210/jc.2006-0603
    • L. Lin, W.X. Gu, G. Ozisik, W.S. To, C.J. Owen, and J.L. Jameson Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years' experience J Clin Endocrinol Metab 91 2006 3048 3054 (Pubitemid 44271754)
    • (2006) Journal of Clinical Endocrinology and Metabolism , vol.91 , Issue.8 , pp. 3048-3054
    • Lin, L.1    Gu, W.-X.2    Ozisik, G.3    To, W.S.4    Owen, C.J.5    Jameson, J.L.6    Achermann, J.C.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.