메뉴 건너뛰기




Volumn 53, Issue 3, 2009, Pages 482-484

A novel mutation in a family with DNA ligase IV deficiency syndrome

Author keywords

Bone marrow failure; DNA repair; Stem cell transplantation

Indexed keywords

ACICLOVIR; ALPHA FETOPROTEIN; BUSULFAN; CIPROFLOXACIN; CYANOCOBALAMIN; CYCLOPHOSPHAMIDE; CYCLOSPORIN A; FLUCONAZOLE; FLUDARABINE; FOLIC ACID; GRANULOCYTE COLONY STIMULATING FACTOR; HEMOGLOBIN; IMMUNOGLOBULIN A; IMMUNOGLOBULIN G; IMMUNOGLOBULIN M; METHOTREXATE; MITOMYCIN C; POLYDEOXYRIBONUCLEOTIDE SYNTHASE; THYMOCYTE ANTIBODY;

EID: 67651236954     PISSN: 15455009     EISSN: 15455017     Source Type: Journal    
DOI: 10.1002/pbc.22031     Document Type: Article
Times cited : (33)

References (14)
  • 3
    • 0029585872 scopus 로고
    • The XRCC4 gene encodes a novel protein involved in DNA double-strand break repair and V(D)J recombination
    • DOI 10.1016/0092-8674(95)90135-3
    • Li Z, Otevrel T, Gao Y, et al. The XRCC4 gene encodes a novel protein involved in DNA double-strand break repair and V(D)J recombination. Cell 1995;83:1079-1089. (Pubitemid 26007800)
    • (1995) Cell , vol.83 , Issue.7 , pp. 1079-1089
    • Li, Z.1    Otevrel, T.2    Gao, Y.3    Cheng, H.-L.4    Seed, B.5    Stamato, T.D.6    Taccioli, G.E.7    Alt, F.W.8
  • 4
    • 0031214080 scopus 로고    scopus 로고
    • Mammalian DNA double-strand break repair protein XRCC4 interacts with DNA ligase IV
    • Critchlow SE, Bowater RP, Jackson SP. Mammalian DNA double-strand break repair protein XRCC4 interacts with DNA ligase IV. Curr Biol 1997;7:588-598. (Pubitemid 27335654)
    • (1997) Current Biology , vol.7 , Issue.8 , pp. 588-598
    • Critchlow, S.E.1    Bowater, R.P.2    Jackson, S.P.3
  • 5
    • 0030743386 scopus 로고    scopus 로고
    • Activity of DNA ligase IV stimulated by complex formation with XRCC4 protein in mammalian cells
    • DOI 10.1038/41358
    • Grawunder U, Wilm M, Wu X, et al. Activity of DNA ligase IV stimulated by complex formation with XRCC4 protein in mammalian cells. Nature 1997;388:492-495. (Pubitemid 27328929)
    • (1997) Nature , vol.388 , Issue.6641 , pp. 492-495
    • Grawunder, U.1    Wilm, M.2    Wu, X.3    Kulesza, P.4    Wilson, T.E.5    Mann, M.6    Lieber, M.R.7
  • 6
    • 0032185230 scopus 로고    scopus 로고
    • DNA ligase IV is essential for V(D)J recombination and DNA double-strand break repair in human precursor lymphocytes
    • Grawunder U, Zimmer D, Fugmann S, et al. DNA ligase IV is essential for V(D)J recombination and DNA double-strand break repair in human precursor lymphocytes. Mol Cell 1998;2:477-484.
    • (1998) Mol Cell , vol.2 , pp. 477-484
    • Grawunder, U.1    Zimmer, D.2    Fugmann, S.3
  • 7
    • 0035917489 scopus 로고    scopus 로고
    • Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency
    • Moshous D, Callebaut I, de Chasseval R, et al. Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency. Cell 2001;105:177-186.
    • (2001) Cell , vol.105 , pp. 177-186
    • Moshous, D.1    Callebaut, I.2    De Chasseval, R.3
  • 8
    • 31044432090 scopus 로고    scopus 로고
    • XLF interacts with the XRCC4-DNA Ligase IV complex to promote DNA nonhomologous end-joining
    • DOI 10.1016/j.cell.2005.12.031, PII S0092867406000031
    • Ahnesorg P, Smith P, Jackson SP. XLF interacts with the XRCC4-DNA ligase IV complex to promote DNA non-homolgous end-joining. Cell 2006;124:301-313. (Pubitemid 43121979)
    • (2006) Cell , vol.124 , Issue.2 , pp. 301-313
    • Ahnesorg, P.1    Smith, P.2    Jackson, S.P.3
  • 9
    • 0030051855 scopus 로고    scopus 로고
    • Leukemia and lymphoma in ataxia telangiectasia
    • Taylor AM, Metcalfe JA, Thick J, et al. Leukemia and lymphoma in ataxia telangiectasia. Blood 1996;87:423-438.
    • (1996) Blood , vol.87 , pp. 423-438
    • Taylor, A.M.1    Metcalfe, J.A.2    Thick, J.3
  • 10
    • 31044446450 scopus 로고    scopus 로고
    • A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation
    • van der Burg M, van Veelen LR, Verkaik NS, et al. A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation. J Clin Invest 2006;116:137-145.
    • (2006) J Clin Invest , vol.116 , pp. 137-145
    • Van Der Burg, M.1    Van Veelen, L.R.2    Verkaik, N.S.3
  • 11
    • 0029024927 scopus 로고
    • Molecular cloning and expression of human cDNAs encoding a novel DNA ligase IVand DNA ligase II, an enzyme active in repair and recombination
    • WeiYF, Robins P, Carter K, et al. Molecular cloning and expression of human cDNAs encoding a novel DNA ligase IVand DNA ligase II, an enzyme active in repair and recombination. Mol Cell Biol 1995;15:3206-3216.
    • (1995) Mol Cell Biol , vol.15 , pp. 3206-3216
    • Wei, Y.F.1    Robins, P.2    Carter, K.3
  • 12
    • 34247842848 scopus 로고    scopus 로고
    • Successful bone marrow transplantation in a patient with DNA ligase IV deficiency and bone marrow failure
    • Gruhn B, Seidel J, Zintl F, et al. Successful bone marrow transplantation in a patient with DNA ligase IV deficiency and bone marrow failure. Orphanet J Rare Dis 2007;2:5.
    • (2007) Orphanet J Rare Dis , vol.2 , pp. 5
    • Gruhn, B.1    Seidel, J.2    Zintl, F.3
  • 14
    • 45449095238 scopus 로고    scopus 로고
    • CsA can induce DNA double-strand breaks: Implications for BMT regimens particularly for individuals with defective DNA repair
    • DOI 10.1038/bmt.2008.18, PII BMT200818
    • O'Driscoll M, Jeggo PA. CsA can induce DNA double-strand breaks: Implications for BMT regimens particularly for individuals with defective DNA repair. Bone Marrow Transplant 2008;41:983-989. (Pubitemid 351850504)
    • (2008) Bone Marrow Transplantation , vol.41 , Issue.11 , pp. 983-989
    • O'Driscoll, M.1    Jeggo, P.A.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.