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Volumn 370, Issue 10, 2014, Pages 943-949

Mutant cohesin in premature ovarian failure

Author keywords

[No Author keywords available]

Indexed keywords

COHESIN;

EID: 84895433616     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMoa1309635     Document Type: Article
Times cited : (234)

References (38)
  • 1
    • 55549115368 scopus 로고    scopus 로고
    • The biology of infertility: Research advances and clinical challenges
    • Matzuk MM, Lamb DJ. The biology of infertility: research advances and clinical challenges. Nat Med 2008;14:1197-213.
    • (2008) Nat Med , vol.14 , pp. 1197-1213
    • Matzuk, M.M.1    Lamb, D.J.2
  • 2
    • 78649576457 scopus 로고    scopus 로고
    • Genes involved in human premature ovarian failure
    • [Erratum, J Mol Endocrinol 2010;45:405.]
    • Persani L, Rossetti R, Cacciatore C. Genes involved in human premature ovarian failure. J Mol Endocrinol 2010;45:257-79. [Erratum, J Mol Endocrinol 2010;45:405.]
    • (2010) J Mol Endocrinol , vol.45 , pp. 257-279
    • Persani, L.1    Rossetti, R.2    Cacciatore, C.3
  • 3
    • 67650767033 scopus 로고    scopus 로고
    • Phenotyping and genetic studies of 357 consecutive patients presenting with premature ovarian failure
    • Bachelot A, Rouxel A, Massin N, et al. Phenotyping and genetic studies of 357 consecutive patients presenting with premature ovarian failure. Eur J Endocrinol 2009;161:179-87.
    • (2009) Eur J Endocrinol , vol.161 , pp. 179-187
    • Bachelot, A.1    Rouxel, A.2    Massin, N.3
  • 4
    • 78149306061 scopus 로고    scopus 로고
    • Premature ovarian failure
    • Shelling AN. Premature ovarian failure. Reproduction 2010;140:633-41.
    • (2010) Reproduction , vol.140 , pp. 633-641
    • Shelling, A.N.1
  • 5
    • 21244434753 scopus 로고    scopus 로고
    • Premature ovarian failure
    • DOI 10.1093/humupd/dmi012
    • Goswami D, Conway GS. Premature ovarian failure. Hum Reprod Update 2005;11:391-410. (Pubitemid 40895467)
    • (2005) Human Reproduction Update , vol.11 , Issue.4 , pp. 391-410
    • Goswami, D.1    Conway, G.S.2
  • 6
    • 84884951727 scopus 로고    scopus 로고
    • Genetic association studies in female reproduction: From candidate-gene approaches to genomewide mapping
    • Zhao H, Chen ZJ. Genetic association studies in female reproduction: from candidate-gene approaches to genomewide mapping. Mol Hum Reprod 2013;19:644-54.
    • (2013) Mol Hum Reprod , vol.19 , pp. 644-654
    • Zhao, H.1    Chen, Z.J.2
  • 7
    • 77952744975 scopus 로고    scopus 로고
    • Genomewide association study and premature ovarian failure
    • Christin-Maitre S, Tachdjian G. Genomewide association study and premature ovarian failure. Ann Endocrinol (Paris) 2010;71:218-21.
    • (2010) Ann Endocrinol (Paris) , vol.71 , pp. 218-221
    • Christin-Maitre, S.1    Tachdjian, G.2
  • 8
    • 84858141201 scopus 로고    scopus 로고
    • Genome-wide linkage in a highly consanguineous pedigree reveals two novel loci on chromosome 7 for non-syndromic familial premature ovarian failure
    • Caburet S, Zavadakova P, Ben-Neriah Z, et al. Genome-wide linkage in a highly consanguineous pedigree reveals two novel loci on chromosome 7 for non-syndromic familial premature ovarian failure. PLoS One 2012;7(3):e33412.
    • (2012) PLoS One , vol.7 , Issue.3
    • Caburet, S.1    Zavadakova, P.2    Ben-Neriah, Z.3
  • 9
    • 78651512999 scopus 로고    scopus 로고
    • Many functions of the meiotic cohesin
    • Bardhan A. Many functions of the meiotic cohesin. Chromosome Res 2010;18:909-24.
    • (2010) Chromosome Res , vol.18 , pp. 909-924
    • Bardhan, A.1
  • 10
    • 80053495083 scopus 로고    scopus 로고
    • Cohesin: A catenase with separate entry and exit gates?
    • Nasmyth K. Cohesin: a catenase with separate entry and exit gates? Nat Cell Biol 2011;13:1170-7.
    • (2011) Nat Cell Biol , vol.13 , pp. 1170-1177
    • Nasmyth, K.1
  • 11
    • 84863738653 scopus 로고    scopus 로고
    • Meiotic cohesin complexes are essential for the formation of the axial element in mice
    • Llano E, Herrán Y, García-Tuñón I, et al. Meiotic cohesin complexes are essential for the formation of the axial element in mice. J Cell Biol 2012;197:877-85.
    • (2012) J Cell Biol , vol.197 , pp. 877-885
    • Llano, E.1    Herrán, Y.2    García-Tuñón, I.3
  • 12
    • 84867850145 scopus 로고    scopus 로고
    • NMD: A multi-faceted response to premature translational termination
    • Kervestin S, Jacobson A. NMD: a multi-faceted response to premature translational termination. Nat Rev Mol Cell Biol 2012;13:700-12.
    • (2012) Nat Rev Mol Cell Biol , vol.13 , pp. 700-712
    • Kervestin, S.1    Jacobson, A.2
  • 13
    • 68049117311 scopus 로고    scopus 로고
    • Global gene expression in the human fetal testis and ovary
    • Houmard B, Small C, Yang L, et al. Global gene expression in the human fetal testis and ovary. Biol Reprod 2009;81:438-43.
    • (2009) Biol Reprod , vol.81 , pp. 438-443
    • Houmard, B.1    Small, C.2    Yang, L.3
  • 14
    • 67651096040 scopus 로고    scopus 로고
    • Baseline expression profile of meiotic-specific genes in healthy fertile males
    • Nogués C, Fernández C, Rajmil O, Templado C. Baseline expression profile of meiotic-specific genes in healthy fertile males. Fertil Steril 2009;92:578-82.
    • (2009) Fertil Steril , vol.92 , pp. 578-582
    • Nogués, C.1    Fernández, C.2    Rajmil, O.3    Templado, C.4
  • 15
    • 77955959649 scopus 로고    scopus 로고
    • Dynamics of cohesin proteins REC8, STAG3, SMC1 beta and SMC3 are consistent with a role in sister chromatid cohesion during meiosis in human oocytes
    • Garcia-Cruz R, Brieño MA, Roig I, et al. Dynamics of cohesin proteins REC8, STAG3, SMC1 beta and SMC3 are consistent with a role in sister chromatid cohesion during meiosis in human oocytes. Hum Reprod 2010;25:2316-27.
    • (2010) Hum Reprod , vol.25 , pp. 2316-2327
    • Garcia-Cruz, R.1    Brieño, M.A.2    Roig, I.3
  • 16
    • 0034011069 scopus 로고    scopus 로고
    • STAG3, a novel gene encoding a protein involved in meiotic chromosome pairing and location of STAG3-related genes flanking the Williams-Beuren syndrome deletion
    • Pezzi N, Prieto I, Kremer L, et al. STAG3, a novel gene encoding a protein involved in meiotic chromosome pairing and location of STAG3-related genes flanking the Williams-Beuren syndrome deletion. FASEB J 2000;14:581-92. (Pubitemid 30143178)
    • (2000) FASEB Journal , vol.14 , Issue.3 , pp. 581-592
    • Pezzi, N.1    Prieto, I.2    Kremer, L.3    Perez, J.L.A.4    Valero, C.5    Del, M.J.6    Martinez-A, C.7    Barbero, J.L.8
  • 17
    • 19944419800 scopus 로고    scopus 로고
    • Absence of mouse REC8 cohesin promotes synapsis of sister chromatids in meiosis
    • DOI 10.1016/j.devcel.2005.03.018, PII S1534580705001309
    • Xu H, Beasley MD, Warren WD, van der Horst GT, McKay MJ. Absence of mouse REC8 cohesin promotes synapsis of sister chromatids in meiosis. Dev Cell 2005;8:949-61. (Pubitemid 40754065)
    • (2005) Developmental Cell , vol.8 , Issue.6 , pp. 949-961
    • Xu, H.1    Beasley, M.D.2    Warren, W.D.3    Van Der Horst, G.T.J.4    McKay, M.J.5
  • 18
    • 79961020612 scopus 로고    scopus 로고
    • The cohesin subunit RAD21L functions in meiotic synapsis and exhibits sexual dimorphism in fertility
    • Herrán Y, Gutiérrez-Caballero C, Sánchez- Martín M, et al. The cohesin subunit RAD21L functions in meiotic synapsis and exhibits sexual dimorphism in fertility. EMBO J 2011;30:3091-105.
    • (2011) EMBO J , vol.30 , pp. 3091-3105
    • Herrán, Y.1    Gutiérrez-Caballero, C.2    Sánchez- Martín, M.3
  • 19
    • 0014572588 scopus 로고
    • The development of the mouse ovary from birth to maturity
    • Peters H. The development of the mouse ovary from birth to maturity. Acta Endocrinol (Copenh) 1969;62:98-116.
    • (1969) Acta Endocrinol (Copenh) , vol.62 , pp. 98-116
    • Peters, H.1
  • 21
    • 28444461450 scopus 로고    scopus 로고
    • SMC1beta-deficient female mice provide evidence that cohesins are a missing link in age-related nondisjunction
    • DOI 10.1038/ng1672, PII N1672
    • Hodges CA, Revenkova E, Jessberger R, Hassold TJ, Hunt PA. SMC1beta-deficient female mice provide evidence that cohesins are a missing link in age-related nondisjunction. Nat Genet 2005;37:1351-5. (Pubitemid 41722191)
    • (2005) Nature Genetics , vol.37 , Issue.12 , pp. 1351-1355
    • Hodges, C.A.1    Revenkova, E.2    Jessberger, R.3    Hassold, T.J.4    Hunt, P.A.5
  • 22
    • 51149123083 scopus 로고    scopus 로고
    • Shugoshin-2 is essential for the completion of meiosis but not for mitotic cell division in mice
    • Llano E, Gómez R, Gutiérrez-Caballero C, et al. Shugoshin-2 is essential for the completion of meiosis but not for mitotic cell division in mice. Genes Dev 2008;22:2400-13.
    • (2008) Genes Dev , vol.22 , pp. 2400-2413
    • Llano, E.1    Gómez, R.2    Gutiérrez-Caballero, C.3
  • 23
    • 77956536244 scopus 로고    scopus 로고
    • Evidence that weakened centromere cohesion is a leading cause of age-related aneuploidy in oocytes
    • Chiang T, Duncan FE, Schindler K, Schultz RM, Lampson MA. Evidence that weakened centromere cohesion is a leading cause of age-related aneuploidy in oocytes. Curr Biol 2010;20:1522-8.
    • (2010) Curr Biol , vol.20 , pp. 1522-1528
    • Chiang, T.1    Duncan, F.E.2    Schindler, K.3    Schultz, R.M.4    Lampson, M.A.5
  • 24
    • 79954601461 scopus 로고    scopus 로고
    • Age-related meiotic segregation errors in mammalian oocytes are preceded by depletion of cohesin and Sgo2
    • Lister LM, Kouznetsova A, Hyslop LA, et al. Age-related meiotic segregation errors in mammalian oocytes are preceded by depletion of cohesin and Sgo2. Curr Biol 2010;20:1511-21.
    • (2010) Curr Biol , vol.20 , pp. 1511-1521
    • Lister, L.M.1    Kouznetsova, A.2    Hyslop, L.A.3
  • 25
    • 84863892710 scopus 로고    scopus 로고
    • Human aneuploidy: Mechanisms and new insights into an age-old problem
    • Nagaoka SI, Hassold TJ, Hunt PA. Human aneuploidy: mechanisms and new insights into an age-old problem. Nat Rev Genet 2012;13:493-504.
    • (2012) Nat Rev Genet , vol.13 , pp. 493-504
    • Nagaoka, S.I.1    Hassold, T.J.2    Hunt, P.A.3
  • 26
    • 84861762559 scopus 로고    scopus 로고
    • An idic(15) associated with POF (premature ovarian failure): Molecular cytogenetic definition of a case and review of the literature
    • Bertini V, Viola D, Vitti P, Simi P, Valetto A. An idic(15) associated with POF (premature ovarian failure): molecular cytogenetic definition of a case and review of the literature. Gene 2012;503:123-5.
    • (2012) Gene , vol.503 , pp. 123-125
    • Bertini, V.1    Viola, D.2    Vitti, P.3    Simi, P.4    Valetto, A.5
  • 28
    • 58149133511 scopus 로고    scopus 로고
    • Mutations of the SYCP3 gene in women with recurrent pregnancy loss
    • Bolor H, Mori T, Nishiyama S, et al. Mutations of the SYCP3 gene in women with recurrent pregnancy loss. Am J Hum Genet 2009;84:14-20.
    • (2009) Am J Hum Genet , vol.84 , pp. 14-20
    • Bolor, H.1    Mori, T.2    Nishiyama, S.3
  • 29
    • 79952611507 scopus 로고    scopus 로고
    • A rare synaptonemal complex protein 3 gene variant in unexplained female infertility
    • Nishiyama S, Kishi T, Kato T, et al. A rare synaptonemal complex protein 3 gene variant in unexplained female infertility. Mol Hum Reprod 2011;17:266-71.
    • (2011) Mol Hum Reprod , vol.17 , pp. 266-271
    • Nishiyama, S.1    Kishi, T.2    Kato, T.3
  • 31
    • 84873702853 scopus 로고    scopus 로고
    • Cohesin, a chromatin engagement ring
    • Remeseiro S, Losada A. Cohesin, a chromatin engagement ring. Curr Opin Cell Biol 2013;25:63-71.
    • (2013) Curr Opin Cell Biol , vol.25 , pp. 63-71
    • Remeseiro, S.1    Losada, A.2
  • 32
    • 40849149557 scopus 로고    scopus 로고
    • Chromatid cohesion defects may underlie chromosome instability in human colorectal cancers
    • Barber TD, McManus K, Yuen KW, et al. Chromatid cohesion defects may underlie chromosome instability in human colorectal cancers. Proc Natl Acad Sci U S A 2008;105:3443-8.
    • (2008) Proc Natl Acad Sci U S A , vol.105 , pp. 3443-3448
    • Barber, T.D.1    McManus, K.2    Yuen, K.W.3
  • 33
    • 77957223702 scopus 로고    scopus 로고
    • Mutated genes, pathways and processes in tumours
    • Baudot A, de la Torre V, Valencia A. Mutated genes, pathways and processes in tumours. EMBO Rep 2010;11:805-10.
    • (2010) EMBO Rep , vol.11 , pp. 805-810
    • Baudot, A.1    De La Torre, V.2    Valencia, A.3
  • 34
    • 84862776906 scopus 로고    scopus 로고
    • Clonal evolution in relapsed acute myeloid leukaemia revealed by whole-genome sequencing
    • Ding L, Ley TJ, Larson DE, et al. Clonal evolution in relapsed acute myeloid leukaemia revealed by whole-genome sequencing. Nature 2012;481:506-10.
    • (2012) Nature , vol.481 , pp. 506-510
    • Ding, L.1    Ley, T.J.2    Larson, D.E.3
  • 35
    • 84864255882 scopus 로고    scopus 로고
    • The origin and evolution of mutations in acute myeloid leukemia
    • Welch JS, Ley TJ, Link DC, et al. The origin and evolution of mutations in acute myeloid leukemia. Cell 2012;150:264-78.
    • (2012) Cell , vol.150 , pp. 264-278
    • Welch, J.S.1    Ley, T.J.2    Link, D.C.3
  • 36
    • 80051874823 scopus 로고    scopus 로고
    • Mutational inactivation of STAG2 causes aneuploidy in human cancer
    • Solomon DA, Kim T, Diaz-Martinez LA, et al. Mutational inactivation of STAG2 causes aneuploidy in human cancer. Science 2011;333:1039-43.
    • (2011) Science , vol.333 , pp. 1039-1043
    • Solomon, D.A.1    Kim, T.2    Diaz-Martinez, L.A.3
  • 37
    • 84885021313 scopus 로고    scopus 로고
    • Recurrent mutations in multiple components of the cohesin complex in myeloid neoplasms
    • Kon A, Shih LY, Minamino M, et al. Recurrent mutations in multiple components of the cohesin complex in myeloid neoplasms. Nat Genet 2013;45:1232-7.
    • (2013) Nat Genet , vol.45 , pp. 1232-1237
    • Kon, A.1    Shih, L.Y.2    Minamino, M.3
  • 38
    • 79952465565 scopus 로고    scopus 로고
    • Common alleles in candidate susceptibility genes associated with risk and development of epithelial ovarian cancer
    • Notaridou M, Quaye L, Dafou D, et al. Common alleles in candidate susceptibility genes associated with risk and development of epithelial ovarian cancer. Int J Cancer 2011;128:2063-74.
    • (2011) Int J Cancer , vol.128 , pp. 2063-2074
    • Notaridou, M.1    Quaye, L.2    Dafou, D.3


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