메뉴 건너뛰기




Volumn 102, Issue 2, 2017, Pages 576-582

MCM8 and MCM9 nucleotide variants in women with primary ovarian insufficiency

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; CYTOSINE; DNA; GUANINE; MINICHROMOSOME MAINTENANCE PROTEIN 8; MINICHROMOSOME MAINTENANCE PROTEIN 9; THYMINE; MCM8 PROTEIN, HUMAN; MCM9 PROTEIN, HUMAN; MINICHROMOSOME MAINTENANCE PROTEIN;

EID: 85012096149     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2016-2565     Document Type: Article
Times cited : (78)

References (29)
  • 1
    • 59749096464 scopus 로고    scopus 로고
    • Clinical practice: Primary ovarian insufficiency
    • Nelson LM. Clinical practice: Primary ovarian insufficiency. N Engl J Med. 2009;360(6):606-614.
    • (2009) N Engl J Med , vol.360 , Issue.6 , pp. 606-614
    • Nelson, L.M.1
  • 6
    • 84949673296 scopus 로고    scopus 로고
    • Mutated MCM9 is associated with predisposition to hereditary mixed polyposis and colorectal cancer in addition to primary ovarian failure
    • Goldberg Y, Halpern N, Hubert A, Adler SN, Cohen S, Plesser- Duvdevani M, Pappo O, Shaag A, Meiner V. Mutated MCM9 is associated with predisposition to hereditary mixed polyposis and colorectal cancer in addition to primary ovarian failure. Cancer Genet. 2015;208(12):621-624.
    • (2015) Cancer Genet , vol.208 , Issue.12 , pp. 621-624
    • Goldberg, Y.1    Halpern, N.2    Hubert, A.3    Adler, S.N.4    Cohen, S.5    Plesser-Duvdevani, M.6    Pappo, O.7    Shaag, A.8    Meiner, V.9
  • 8
    • 80055085862 scopus 로고    scopus 로고
    • Minichromosome maintenance helicase paralog MCM9 is dispensable for DNA replication but functions in germ-line stem cells and tumor suppression
    • Hartford SA, Luo Y, Southard TL, Min IM, Lis JT, Schimenti JC. Minichromosome maintenance helicase paralog MCM9 is dispensable for DNA replication but functions in germ-line stem cells and tumor suppression. Proc Natl Acad Sci USA. 2011;108(43): 17702-17707.
    • (2011) Proc Natl Acad Sci USA , vol.108 , Issue.43 , pp. 17702-17707
    • Hartford, S.A.1    Luo, Y.2    Southard, T.L.3    Min, I.M.4    Lis, J.T.5    Schimenti, J.C.6
  • 12
    • 67649884743 scopus 로고    scopus 로고
    • Fast and accurate short read alignmentwith Burrows- Wheeler transform
    • LiH,DurbinR. Fast and accurate short read alignmentwith Burrows- Wheeler transform. Bioinformatics. 2009;25(14):1754-1760.
    • (2009) Bioinformatics , vol.25 , Issue.14 , pp. 1754-1760
    • Li, H.1    Durbin, R.2
  • 13
    • 77949587649 scopus 로고    scopus 로고
    • Fast and accurate long-read alignment with Burrows-Wheeler transform
    • Li H, Durbin R. Fast and accurate long-read alignment with Burrows-Wheeler transform. Bioinformatics. 2010;26(5):589-595.
    • (2010) Bioinformatics , vol.26 , Issue.5 , pp. 589-595
    • Li, H.1    Durbin, R.2
  • 15
    • 84928209346 scopus 로고    scopus 로고
    • Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
    • ACMG Laboratory Quality Assurance Committee
    • Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405-423.
    • (2015) Genet Med , vol.17 , Issue.5 , pp. 405-423
    • Richards, S.1    Aziz, N.2    Bale, S.3    Bick, D.4    Das, S.5    Gastier-Foster, J.6    Grody, W.W.7    Hegde, M.8    Lyon, E.9    Spector, E.10    Voelkerding, K.11    Rehm, H.L.12
  • 16
    • 66449133554 scopus 로고    scopus 로고
    • A bioinformatics approach for the phenotype prediction of nonsynonymous single nucleotide polymorphisms in human cytochromes P450
    • Wang LL, Li Y, Zhou SF. A bioinformatics approach for the phenotype prediction of nonsynonymous single nucleotide polymorphisms in human cytochromes P450. Drug Metab Dispos. 2009;37(5):977-991.
    • (2009) Drug Metab Dispos , vol.37 , Issue.5 , pp. 977-991
    • Wang, L.L.1    Li, Y.2    Zhou, S.F.3
  • 18
    • 68149165614 scopus 로고    scopus 로고
    • Predicting the effects of coding nonsynonymous variants on protein function using the SIFT algorithm
    • Kumar P, Henikoff S, Ng PC. Predicting the effects of coding nonsynonymous variants on protein function using the SIFT algorithm. Nat Protoc. 2009;4(8):1073-1081.
    • (2009) Nat Protoc , vol.4 , Issue.8 , pp. 1073-1081
    • Kumar, P.1    Henikoff, S.2    Ng, P.C.3
  • 24
    • 0032037422 scopus 로고    scopus 로고
    • The mouse RecA-like gene Dmc1 is required for homologous chromosome synapsis during meiosis
    • Yoshida K, Kondoh G, Matsuda Y, Habu T, Nishimune Y, Morita T. The mouse RecA-like gene Dmc1 is required for homologous chromosome synapsis during meiosis. Mol Cell. 1998;1(5): 707-718.
    • (1998) Mol Cell , vol.1 , Issue.5 , pp. 707-718
    • Yoshida, K.1    Kondoh, G.2    Matsuda, Y.3    Habu, T.4    Nishimune, Y.5    Morita, T.6
  • 25
    • 0033105760 scopus 로고    scopus 로고
    • Mouse MutS-like protein Msh5 is required for proper chromosome synapsis in male and female meiosis
    • de Vries SS, Baart EB, Dekker M, Siezen A, de Rooij DG, de Boer P, te Riele H. Mouse MutS-like protein Msh5 is required for proper chromosome synapsis in male and female meiosis. Genes Dev. 1999;13(5):523-531.
    • (1999) Genes Dev , vol.13 , Issue.5 , pp. 523-531
    • De Vries, S.S.1    Baart, E.B.2    Dekker, M.3    Siezen, A.4    De Rooij, D.G.5    De Boer, P.6    Te Riele, H.7
  • 27
    • 61449258990 scopus 로고    scopus 로고
    • Mutation of the mouse Syce1 gene disrupts synapsis and suggests a link between synaptonemal complex structural components and DNA repair
    • Bolcun-Filas E, Hall E, Speed R, Taggart M, Grey C, de Massy B, BenaventeR, Cooke HJ. Mutation of the mouse Syce1 gene disrupts synapsis and suggests a link between synaptonemal complex structural components and DNA repair. PLoS Genet. 2009;5(2): E1000393.
    • (2009) PLoS Genet , vol.5 , Issue.2 , pp. e1000393
    • Bolcun-Filas, E.1    Hall, E.2    Speed, R.3    Taggart, M.4    Grey, C.5    De Massy, B.6    Benavente, R.7    Cooke, H.J.8
  • 29


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.