메뉴 건너뛰기




Volumn 30, Issue 5, 2015, Pages 1196-1202

AMH mutations with reduced in vitro bioactivity are related to premature ovarian insufficiency

Author keywords

AMH; AMH bioactivity; AMH mutations; POI; premature ovarian insufficiency

Indexed keywords

COMPLEMENTARY DNA; FOLLITROPIN; GENOMIC DNA; MUELLERIAN INHIBITING FACTOR; DNA;

EID: 84929756239     PISSN: 02681161     EISSN: 14602350     Source Type: Journal    
DOI: 10.1093/humrep/dev042     Document Type: Article
Times cited : (50)

References (32)
  • 1
    • 84855459917 scopus 로고    scopus 로고
    • Measuring anti-Mullerian hormone for the assessment of ovarian reserve: When and for whom is it indicated?
    • Anderson RA, Nelson SM, Wallace WHB. Measuring anti-Mullerian hormone for the assessment of ovarian reserve: when and for whom is it indicated?. Maturitas 2012;71:28-33.
    • (2012) Maturitas , vol.71 , pp. 28-33
    • Anderson, R.A.1    Nelson, S.M.2    Wallace, W.H.B.3
  • 3
    • 84905011999 scopus 로고    scopus 로고
    • Anti-Mullerian hormone: Ovarian reserve testing and its potential clinical implications
    • Broer SL, Broekmans FJM, Laven JSE, Fauser BCJM. Anti-Mullerian hormone: ovarian reserve testing and its potential clinical implications. Hum Reprod Update 2014;20:688-701.
    • (2014) Hum Reprod Update , vol.20 , pp. 688-701
    • Broer, S.L.1    Broekmans, F.J.M.2    Laven, J.S.E.3    Fauser, B.C.J.M.4
  • 4
    • 50349083931 scopus 로고    scopus 로고
    • General mechanisms of premature ovarian failure and clinical check-up
    • Christin-Maitre S, Braham R. General mechanisms of premature ovarian failure and clinical check-up. Gynecol Obstet Fertil 2008;36:857-861.
    • (2008) Gynecol Obstet Fertil , vol.36 , pp. 857-861
    • Christin-Maitre, S.1    Braham, R.2
  • 9
    • 0037731743 scopus 로고    scopus 로고
    • Transduction pathway of anti-Mullerian hormone, a sex-specific member of the TGF-b family
    • Josso N, Clemente ND. Transduction pathway of anti-Mullerian hormone, a sex-specific member of the TGF-b family. Trends Endocrinol Metab 2003; 14:91-97.
    • (2003) Trends Endocrinol Metab , vol.14 , pp. 91-97
    • Josso, N.1    Clemente, N.D.2
  • 10
    • 84867013302 scopus 로고    scopus 로고
    • Testicular anti-Mullerian hormone: Clinical applications in DSD
    • Josso N, Rey R, Picard J-Y. Testicular anti-Mullerian hormone: clinical applications in DSD. Semin Reprod Med 2012;30:364-373.
    • (2012) Semin Reprod Med , vol.30 , pp. 364-373
    • Josso, N.1    Rey, R.2    Picard, J.-Y.3
  • 11
    • 84920238690 scopus 로고
    • Surlero le des gonades dans la differentiation sexuelle somatique de l'embryon de lapin
    • Jost A. Surlero le des gonades dans la differentiation sexuelle somatique de l'embryon de lapin. C R Assoc Anat 1947;34:255-263.
    • (1947) C R Assoc Anat , vol.34 , pp. 255-263
    • Jost, A.1
  • 12
    • 0029016076 scopus 로고
    • Gonadal tumorigenesis in transgenic mice bearing the mouse inhibin alpha-subunit promoter/simian virus T-Antigen fusion gene: Characterization of ovarian tumors and establishment of gonadotropin-responsive granulosa cell lines
    • Kananen K, Markkula M, Rainio E, Su JG, Hsueh AJ, Huhtaniemi IT. Gonadal tumorigenesis in transgenic mice bearing the mouse inhibin alpha-subunit promoter/simian virus T-Antigen fusion gene: characterization of ovarian tumors and establishment of gonadotropin-responsive granulosa cell lines. Mol Endocrinol 1995;9:616-627.
    • (1995) Mol Endocrinol , vol.9 , pp. 616-627
    • Kananen, K.1    Markkula, M.2    Rainio, E.3    Su, J.G.4    Hsueh, A.J.5    Huhtaniemi, I.T.6
  • 13
    • 42049088519 scopus 로고    scopus 로고
    • A functional anti-Mullerian hormone gene polymorphism is associated with follicle number and androgen levels in polycystic ovary syndrome patients
    • Kevenaar ME, Laven JSE, Fong SL, Uitterlinden AG, de Jong FH, Themmen APN, Visser JA. A functional anti-Mullerian hormone gene polymorphism is associated with follicle number and androgen levels in polycystic ovary syndrome patients. J Clin Endocrinol Metab 2008; 93:1310-1316.
    • (2008) J Clin Endocrinol Metab , vol.93 , pp. 1310-1316
    • Kevenaar, M.E.1    Laven, J.S.E.2    Fong, S.L.3    Uitterlinden, A.G.4    De Jong, F.H.5    Themmen, A.P.N.6    Visser, J.A.7
  • 14
    • 33747727895 scopus 로고    scopus 로고
    • TGF-superfamily members and ovarian follicle development
    • Knight PG, Glister C. TGF-superfamily members and ovarian follicle development. Reproduction 2006;132:191-206.
    • (2006) Reproduction , vol.132 , pp. 191-206
    • Knight, P.G.1    Glister, C.2
  • 15
    • 68149165614 scopus 로고    scopus 로고
    • Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
    • Kumar P, Henikoff S, NgPC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 2009; 4:1073-1081.
    • (2009) Nat Protoc , vol.4 , pp. 1073-1081
    • Kumar, P.1    Henikoff, S.2    Ng, P.C.3
  • 17
    • 84859118348 scopus 로고    scopus 로고
    • Follicular growth and atresia in mammalian ovaries: Regulation by survival and death of granulosa cells
    • Matsuda F, Inoue N, Manabe N, Ohkura S. Follicular growth and atresia in mammalian ovaries: regulation by survival and death of granulosa cells. J Reprod Dev 2012;58:44-50.
    • (2012) J Reprod Dev , vol.58 , pp. 44-50
    • Matsuda, F.1    Inoue, N.2    Manabe, N.3    Ohkura, S.4
  • 18
    • 55549115368 scopus 로고    scopus 로고
    • The biology of infertility: Research advances and clinical challenges
    • MatzukMM, Lamb DJ. The biology of infertility: research advances and clinical challenges. Nat Med 2008;14:1197-1213.
    • (2008) Nat Med , vol.14 , pp. 1197-1213
    • Matzukmm Lamb, D.J.1
  • 19
    • 59749096464 scopus 로고    scopus 로고
    • Primary ovarian insufficiency
    • Nelson LM. Primary ovarian insufficiency. N Engl J Med 2009;360:606-614.
    • (2009) N Engl J Med , vol.360 , pp. 606-614
    • Nelson, L.M.1
  • 20
    • 79251477221 scopus 로고    scopus 로고
    • Integral role of GDF-9 and BMP-15 in ovarian function
    • Otsuka F, McTavish KJ, Shimasaki S. Integral role of GDF-9 and BMP-15 in ovarian function. Mol Reprod Dev 2011;78:9-21.
    • (2011) Mol Reprod Dev , vol.78 , pp. 9-21
    • Otsuka, F.1    McTavish, K.J.2    Shimasaki, S.3
  • 22
    • 78649576457 scopus 로고    scopus 로고
    • Genes involved in human premature ovarian failure
    • Persani L, Rossetti R, Cacciatore C. Genes involved in human premature ovarian failure. J Mol Endocrinol 2010;45:257-279.
    • (2010) J Mol Endocrinol , vol.45 , pp. 257-279
    • Persani, L.1    Rossetti, R.2    Cacciatore, C.3
  • 23
    • 84926157814 scopus 로고    scopus 로고
    • AMH and AMHR2 genetic variants in Chinese women with primary ovarian insufficiency and normal age at natural menopause
    • Qin C, Yuan Z, Yao J, Zhu W, Wu W, Xie J. AMH and AMHR2 genetic variants in Chinese women with primary ovarian insufficiency and normal age at natural menopause. Reprod Biomed Online 2014;29: 311-318.
    • (2014) Reprod Biomed Online , vol.29 , pp. 311-318
    • Qin, C.1    Yuan, Z.2    Yao, J.3    Zhu, W.4    Wu, W.5    Xie, J.6
  • 24
    • 0033305357 scopus 로고    scopus 로고
    • Expression of anti-Mullerian hormone during normal and pathological gonadal development: Association with differentiation of Sertoli and granulosa cells
    • Rajpert-De Meyts E, Jorgensen N, Graem N, Muller J, Cate RL, Skakkebaek NE. Expression of anti-Mullerian hormone during normal and pathological gonadal development: association with differentiation of Sertoli and granulosa cells. J Clin Endocrinol Metab 1999;84:3836-3844.
    • (1999) J Clin Endocrinol Metab , vol.84 , pp. 3836-3844
    • Rajpert-De Meyts, E.1    Jorgensen, N.2    Graem, N.3    Muller, J.4    Cate, R.L.5    Skakkebaek, N.E.6
  • 25
    • 0035253005 scopus 로고    scopus 로고
    • Integration of genome data and protein structures: Prediction of protein folds, protein interactions and molecular phenotypes of single nucleotide polymorphisms
    • Sunyaev S, Lathe W, Bork P. Integration of genome data and protein structures: prediction of protein folds, protein interactions and molecular phenotypes of single nucleotide polymorphisms. Curr Opin Struct Biol 2001;11:125-130.
    • (2001) Curr Opin Struct Biol , vol.11 , pp. 125-130
    • Sunyaev, S.1    Lathe, W.2    Bork, P.3
  • 28
    • 84888304947 scopus 로고    scopus 로고
    • Role of anti-Mu llerian hormone and bone morphogenetic proteins in the regulation of FSH sensitivity
    • Visser JA, Themmen APN. Role of anti-Mu llerian hormone and bone morphogenetic proteins in the regulation of FSH sensitivity. Mol Cell Endocrinol 2014;382:460-465.
    • (2014) Mol Cell Endocrinol , vol.382 , pp. 460-465
    • Visser, J.A.1    Themmen, A.P.N.2
  • 31
    • 0027408040 scopus 로고
    • Mullerian inhibiting substance requires its N-Terminal domain for maintenance of biological activity, a novel finding within the transforming growth factor-beta superfamily
    • Wilson CA, di Clemente N, Ehrenfels C, Pepinsky RB, Josso N, Vigier B, Cate RL. Mullerian inhibiting substance requires its N-Terminal domain for maintenance of biological activity, a novel finding within the transforming growth factor-beta superfamily. Mol Endocrinol 1993; 7:247-257.
    • (1993) Mol Endocrinol , vol.7 , pp. 247-257
    • Wilson, C.A.1    Di Clemente, N.2    Ehrenfels, C.3    Pepinsky, R.B.4    Josso, N.5    Vigier, B.6    Cate, R.L.7
  • 32
    • 84903323660 scopus 로고    scopus 로고
    • Association study of anti-Mullerian hormone and anti-Mullerian hormone type II receptor polymorphisms with idiopathic primary ovarian insufficiency
    • Yoon SH, Choi YM, Hong MA, Kim JJ, Lee GH, Hwang KR, Moon SY. Association study of anti-Mullerian hormone and anti-Mullerian hormone type II receptor polymorphisms with idiopathic primary ovarian insufficiency. Hum Reprod 2013;28:3301-3305.
    • (2013) Hum Reprod , vol.28 , pp. 3301-3305
    • Yoon, S.H.1    Choi, Y.M.2    Hong, M.A.3    Kim, J.J.4    Lee, G.H.5    Hwang, K.R.6    Moon, S.Y.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.