-
1
-
-
3242881897
-
An overview of three new disorders associated with genetic instability: LIG4 syndrome, RS-SCID and ATR-Seckel syndrome
-
DOI 10.1016/j.dnarep.2004.03.025, PII S1568786404000849
-
O'Driscoll M, Gennery AR, Seidel J et al. An overview of three new disorders associated with genetic instability: LIG4 syndrome, RS-SCID and ATR-Seckel syndrome. DNA Repair (Amsterdam) 2004; 3:1227-1235. (Pubitemid 38997966)
-
(2004)
DNA Repair
, vol.3
, Issue.8-9
, pp. 1227-1235
-
-
O'Driscoll, M.1
Gennery, A.R.2
Seidel, J.3
Concannon, P.4
Jeggo, P.A.5
-
2
-
-
23644452672
-
The repair of DNA damages/modifications during the maturation of the immune system: Lessons from human primary immunodeficiency disorders and animal models
-
DOI 10.1016/S0065-2776(05)87007-5, PII S0065277605870075
-
Revy P, Buck D, le Deist F et al. The repair of DNA damages/modifications during the maturation of the immune system lessons from human primary immunodeficiency disorders and animal models. Adv Immunol 2005; 87:237-295. (Pubitemid 41133495)
-
(2005)
Advances in Immunology
, vol.87
, pp. 237-295
-
-
Revy, P.1
Buck, D.2
Le Deist, F.3
De Villartay, J.4
-
3
-
-
18244362081
-
DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency
-
DOI 10.1016/S1097-2765(01)00408-7
-
O'Driscoll M, Cerosaletti KM, Girard P et al. DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency. Mol Cell 2001; 8:1175-1185. (Pubitemid 34084990)
-
(2001)
Molecular Cell
, vol.8
, Issue.6
, pp. 1175-1185
-
-
O'Driscoll, M.1
Cerosaletti, K.M.2
Girard, P.-M.3
Dai, Y.4
Stumm, M.5
Kysela, B.6
Hirsch, B.7
Gennery, A.8
Palmer, S.E.9
Seidel, J.10
Gatti, R.A.11
Varon, R.12
Oettinger, M.A.13
Neitzel, H.14
Jeggo, P.A.15
Concannon, P.16
-
5
-
-
24344461251
-
A patient with mutations in DNA Ligase IV: Clinical features and overlap with Nijmegen breakage syndrome
-
DOI 10.1002/ajmg.a.30869
-
Ben-Omran TI, Cerosaletti K, Conacannon P et al. A patient with mutations in DNA ligase IV: Clinical features and overlap with Nijmegen Breakage Syndrome. Am J Med Genet 2005; 137A:283-287. (Pubitemid 41262661)
-
(2005)
American Journal of Medical Genetics
, vol.137 A
, Issue.3
, pp. 283-287
-
-
Ben-Omran, T.I.1
Cerosaletti, K.2
Concannon, P.3
Weitzman, S.4
Nezarati, M.M.5
-
6
-
-
34249945536
-
DNA double-strand break repair: From mechanistic understanding to cancer treatment
-
DOI 10.1016/j.dnarep.2007.02.006, PII S1568786407000560, Replication Fork Repair Processes
-
Helleday T, Lo J, van Gent DC et al. DNA double-strand break repair: From mechanistic understanding to cancer treatment. DNA Repair (Amsterdam) 2007; 6:923-935. (Pubitemid 46880473)
-
(2007)
DNA Repair
, vol.6
, Issue.7
, pp. 923-935
-
-
Helleday, T.1
Lo, J.2
Van Gent, D.C.3
Engelward, B.P.4
-
7
-
-
3242879122
-
The mechanism of vertebrate nonhomologous DNA end joining and its role in V(D)J recombination
-
DOI 10.1016/j.dnarep.2004.03.015, PII S1568786404000746
-
Lieber MR, Ma Y, Pannicke U et al. The mechanism of vertebrate nonhomologous DNA end joining and its role in V(D)J recombination. DNA Repair (Amsterdam) 2004; 3:817-826. (Pubitemid 39004089)
-
(2004)
DNA Repair
, vol.3
, Issue.8-9
, pp. 817-826
-
-
Lieber, M.R.1
Ma, Y.2
Pannicke, U.3
Schwarz, K.4
-
8
-
-
0037106180
-
Autophosphorylation of the DNA-dependent protein kinase catalytic subunit is required for rejoining of DNA double-strand breaks
-
DOI 10.1101/gad.1015202
-
Chan DW, Chen BP, Prithivirajsingh S et al. Autophosphorylation of the DNA-dependent protein kinase catalytic subunit is required for rejoining of DNA double-strand breaks. Genes Dev 2002; 16:2333-2338. (Pubitemid 35034402)
-
(2002)
Genes and Development
, vol.16
, Issue.18
, pp. 2333-2338
-
-
Chan, D.W.1
Chen, B.P.-C.2
Prithivirajsingh, S.3
Kurimasa, A.4
Story, M.D.5
Qin, J.6
Chen, D.J.7
-
9
-
-
0037155703
-
Hairpin opening and overhang processing by an Artemis/DNA-dependent protein kinase complex in nonhomologous end joining and V(D)J recombination
-
DOI 10.1016/S0092-8674(02)00671-2
-
Ma Y, Pannicke U, Schwarz K et al. Hairpin opening and overhang processing by an Artemis:DNA-PKcs complex in V(D)J recombination and in nonhomologous end joining. Cell 2002; 108:781-794. (Pubitemid 34327530)
-
(2002)
Cell
, vol.108
, Issue.6
, pp. 781-794
-
-
Ma, Y.1
Pannicke, U.2
Schwarz, K.3
Lieber, M.R.4
-
10
-
-
0037928720
-
Ku stimulation of DNA ligase IV-dependent ligation requires inward movement along the DNA molecule
-
DOI 10.1074/jbc.M303273200
-
Kysela B, Doherty AJ, Chovanec M et al. Ku stimulation of DNA ligase IV-dependent ligation requires inward movement along the DNA molecule. J Biol Chem 2003; 278:22466-22474. (Pubitemid 36830300)
-
(2003)
Journal of Biological Chemistry
, vol.278
, Issue.25
, pp. 22466-22474
-
-
Kysela, B.1
Doherty, A.J.2
Chovanec, M.3
Stiff, T.4
Ameer-Beg, S.M.5
Vojnovic, B.6
Girard, P.-M.7
Jeggo, P.A.8
-
11
-
-
0029024927
-
Molecular cloning and expression of human cDNAs encoding a novel DNA ligase IV and DNA ligase III, an enzyme active in DNA repair and recombination
-
Wei Y-F, Robins P, Carter K et al. Molecular cloning and expression of human cDNAs encoding a novel DNA ligase IV and DNA ligase III, an enzyme active in DNA 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
-
-
0029817836
-
DNA ligase IV from HeLa cell nuclei
-
DOI 10.1074/jbc.271.39.24257
-
Robins P, Lindahl T. DNA ligase IV from HeLa cell nuclei. J Biol Chem 1996; 271:24257-24261. (Pubitemid 26327414)
-
(1996)
Journal of Biological Chemistry
, vol.271
, Issue.39
, pp. 24257-24261
-
-
Robins, P.1
Lindahl, T.2
-
13
-
-
0035191378
-
Crystal structure of an Xrcc4-DNA ligase IV complex
-
DOI 10.1038/nsb725
-
Sibanda BL, Critchlow SE, Begun J et al. Crystal structure of an Xrcc4-DNA ligase IV complex. Nat Struct Biol 2001; 8:1015-1019. (Pubitemid 33101619)
-
(2001)
Nature Structural Biology
, vol.8
, Issue.12
, pp. 1015-1019
-
-
Sibanda, B.L.1
Critchlow, S.E.2
Begun, J.3
Pei, X.Y.4
Jackson, S.P.5
Blundell, T.L.6
Pellegrini, L.7
-
14
-
-
0034327406
-
Structural and mechanistic conservation in DNA ligases
-
Doherty AJ, Suh SW. Structural and mechanistic conservation in DNA ligases. Nucleic Acids Res 2000; 28:4051-4058.
-
(2000)
Nucleic Acids Res
, vol.28
, pp. 4051-4058
-
-
Doherty, A.J.1
Suh, S.W.2
-
15
-
-
9644289536
-
Human DNA ligase I completely encircles and partially unwinds nicked DNA
-
DOI 10.1038/nature03082
-
Pascal JM, O'Brien PJ, Tomkinson AE et al. Human DNA ligase I completely encircles and partially unwinds nicked DNA. Nature 2004; 432:473-478. (Pubitemid 39576523)
-
(2004)
Nature
, vol.432
, Issue.7016
, pp. 473-478
-
-
Pascal, J.M.1
O'Brien, P.J.2
Tomkinson, A.E.3
Ellenberger, T.4
-
16
-
-
0034161570
-
+-dependent DNA ligase: Modular architecture and functional implications
-
Lee YE, Chang C, Song HK et al. Crystal structure of NAD(+)-dependent DNA ligase: Modular architecture and functional implications. EMBO J 2000; 19:1119-1129. (Pubitemid 30119836)
-
(2000)
EMBO Journal
, vol.19
, Issue.5
, pp. 1119-1129
-
-
Lee, J.Y.1
Chang, C.2
Song, H.K.3
Moon, J.4
Yang, J.K.5
Kim, H.-K.6
Kwon, S.-T.7
Suh, S.W.8
-
17
-
-
0029938467
-
Crystal structure of an ATP-dependent DNA ligase from bacteriophage T7
-
DOI 10.1016/S0092-8674(00)81260-X
-
Subramanya HS, Doherty AJ, Ashford SR et al. Crystal structure of an ATP- dependent DNA ligase from bacteriophage T7. Cell 1996; 85:607-615. (Pubitemid 26157198)
-
(1996)
Cell
, vol.85
, Issue.4
, pp. 607-615
-
-
Subramanya, H.S.1
Doherty, A.J.2
Ashford, S.R.3
Wigley, D.B.4
-
18
-
-
0038228666
-
X-ray crystallography reveals a large conformational change during guanyl transfer by mRNA capping enzymes
-
Hakansson K, Doherty AJ, Shuman S et al. X-ray crystallography reveals a large conformational change during guanyl transfer by mRNA capping enzymes. Cell 1997; 89:545-553. (Pubitemid 27511765)
-
(1997)
Cell
, vol.89
, Issue.4
, pp. 545-553
-
-
Hakansson, K.1
Doherty, A.J.2
Shuman, S.3
Wigley, D.B.4
-
19
-
-
33745250067
-
Identification of a novel motif in DNA ligases exemplified by DNA ligase IV
-
DOI 10.1016/j.dnarep.2006.03.011, PII S1568786406001169
-
Marchetti C, Walker SA, Odreman F et al. Identification of a novel motif in DNA ligases exemplified by DNA ligase IV. DNA Repair (Amsterdam) 2006; 5:788-798. (Pubitemid 43928888)
-
(2006)
DNA Repair
, vol.5
, Issue.7
, pp. 788-798
-
-
Marchetti, C.1
Walker, S.A.2
Odreman, F.3
Vindigni, A.4
Doherty, A.J.5
Jeggo, P.6
-
20
-
-
0032511976
-
Late embryonic lethality and impaired V(D)J recombination in mice lacking DNA ligase IV
-
DOI 10.1038/24172
-
Frank KM, Sekiguchi JM, Seidl KJ et al. Late embryonic lethality and impaired V(D)J recombination in mice lacking DNA ligase IV. Nature 1998; 396:173-177. (Pubitemid 28523619)
-
(1998)
Nature
, vol.396
, Issue.6707
, pp. 173-177
-
-
Frank, K.M.1
Sekiguchi, J.M.2
Seidl, K.J.3
Swat, W.4
Rathbun, G.A.5
Cheng, H.-L.6
Davidson, L.7
Kangaloo, L.8
Alt, F.W.9
-
21
-
-
2642532110
-
Rad54 and DNA Ligase IV cooperate to maintain mammalian chromatid stability
-
DOI 10.1101/gad.1204304
-
Mills KD, Ferguson DO, Essers J et al. Rad54 and DNA ligase IV cooperate to maintain mammalian chromatid stability. Genes Dev 2004; 18:1283-1292. (Pubitemid 38720596)
-
(2004)
Genes and Development
, vol.18
, Issue.11
, pp. 1283-1292
-
-
Mills, K.D.1
Ferguson, D.O.2
Essers, J.3
Eckersdorff, M.4
Kanaar, R.5
Alt, F.W.6
-
22
-
-
60549090233
-
Recurrent genomic alterations characterize medulloblastoma arising from DNA double-strand break repair deficiency
-
(in press). Doi: 10.1073/ pnas.0806882106
-
Frappart PO, Lee Y, Russell HR et al. Recurrent genomic alterations characterize medulloblastoma arising from DNA double-strand break repair deficiency. Proc Natl Acad Sci USA (in press). Doi: 10.1073/ pnas.0806882106.
-
Proc Natl Acad Sci USA
-
-
Frappart, P.O.1
Lee, Y.2
Russell, H.R.3
-
23
-
-
0035834067
-
DNA ligase IV-deficient cells are more resistant to ionizing radiation in the absence of Ku70: Implications for DNA double-strand break repair
-
DOI 10.1073/pnas.201271098
-
Adachi N, Ishino T, Ishii Y et al. DNA ligase IV-deficient cells are more resistant to ionizing radiation in the absence of Ku70: Implications for DNA double-strand break repair. Proc Natl Acad Sci USA 2001; 98:12109-13. (Pubitemid 32959835)
-
(2001)
Proceedings of the National Academy of Sciences of the United States of America
, vol.98
, Issue.21
, pp. 12109-12113
-
-
Adachi, N.1
Ishino, T.2
Ishii, Y.3
Takeda, S.4
Koyama, H.5
-
24
-
-
18244379848
-
Impaired nonhomologous end-joining provokes soft tissue sarcomas harboring chromosomal translocations, amplifications, and deletions
-
DOI 10.1016/S1097-2765(01)00425-7
-
Sharpless NE, Ferguson DO, O'Hagan RC et al. Impaired nonhomologous end-joining provokes soft tissue sarcomas harboring chromosomal translocations, amplifications and deletions. Mol Cell 2001; 8:1187-1196. (Pubitemid 34084991)
-
(2001)
Molecular Cell
, vol.8
, Issue.6
, pp. 1187-1196
-
-
Sharpless, N.E.1
Ferguson, D.O.2
O'Hagan, R.C.3
Castrillon, D.H.4
Lee, C.5
Farazi, P.A.6
Alson, S.7
Fleming, J.8
Morton, C.C.9
Frank, K.10
Chin, L.11
Alt, F.W.12
DePinho, R.A.13
-
25
-
-
0035971074
-
Identification of a mutated DNA ligase IV gene in the X-ray-hypersensitive mutant SX10 of mouse FM3A cells
-
Sado K, Ayusawa D, Enomoto A et al. Identification of a mutated DNA ligase IV gene in the X-ray-hypersensitive mutant SX10 of mouse FM3A cells. J Biol Chem 2001; 276:9742-9748.
-
(2001)
J Biol Chem
, vol.276
, pp. 9742-9748
-
-
Sado, K.1
Ayusawa, D.2
Enomoto, A.3
-
26
-
-
34250001450
-
DNA repair is limiting for haematopoietic stem cells during ageing
-
DOI 10.1038/nature05875, PII NATURE05875
-
Nijnik A, Woodbine L, Marchetti C et al. DNA repair is limiting for haematopoietic stem cells during ageing. Nature 2007; 447:686-690. (Pubitemid 46889732)
-
(2007)
Nature
, vol.447
, Issue.7145
, pp. 686-690
-
-
Nijnik, A.1
Woodbine, L.2
Marchetti, C.3
Dawson, S.4
Lambe, T.5
Liu, C.6
Rodrigues, N.P.7
Crockford, T.L.8
Cabuy, E.9
Vindigni, A.10
Enver, T.11
Bell, J.I.12
Slijepcevic, P.13
Goodnow, C.C.14
Jeggo, P.A.15
Cornall, R.J.16
-
27
-
-
0033166623
-
Identification of a defect in DNA ligase IV in a radiosensitive leukaemia patient
-
DOI 10.1016/S0960-9822(99)80311-X
-
Riballo E, Critchlow SE, Teo S-H et al. Identification of a defect in DNA ligase IV in a radiosensitive leukaemia patient. Curr Biol 1999; 9:699-702. (Pubitemid 29332352)
-
(1999)
Current Biology
, vol.9
, Issue.13
, pp. 699-702
-
-
Riballo, E.1
Critchlow, S.E.2
Teo, S.-H.3
Doherty, A.J.4
Priestley, A.5
Broughton, B.6
Kysela, B.7
Beamish, H.8
Plowman, N.9
Arlett, C.F.10
Lehmann, A.R.11
Jackson, S.P.12
Jeggo, P.A.13
-
28
-
-
0035903103
-
Cellular and biochemical impact of a mutation in DNA ligase IV conferring clinical radiosensitivity
-
Riballo E, Doherty AJ, Dai Y et al. Cellular and biochemical impact of a mutation in DNA ligase IV conferring clinical radiosensitivity. J Biol Chem 2001 276; 33:31124-31132.
-
(2001)
J Biol Chem
, vol.276
, Issue.33
, pp. 31124-31132
-
-
Riballo, E.1
Doherty, A.J.2
Dai, Y.3
-
29
-
-
0030870904
-
A DNA double-strand break defective fibroblast cell line (180BR) derived from a radiosensitive patient represents a new mutant phenotype
-
Badie C, Goodhardt M, Waugh A et al. A DNA double-strand break defective fibroblast cell line, (180BR), derived from a radiosensitive patient represents a new mutant phenotype. Cancer Res 1997; 57:4600-4607. (Pubitemid 27441067)
-
(1997)
Cancer Research
, vol.57
, Issue.20
, pp. 4600-4607
-
-
Badie, C.1
Goodhardt, M.2
Waugh, A.3
Doyen, N.4
Foray, N.5
Calsou, P.6
Singleton, B.7
Gell, D.8
Salles, B.9
Jeggo, P.10
Arlett, C.F.11
Malaise, E.-P.12
-
30
-
-
34247248708
-
Epstein-barr virus-associated B-cell lymphoma in a patient with DNA ligase IV (LIG4) syndrome
-
DOI 10.1002/ajmg.a.31644
-
Toita N, Hatano N, Ono S et al. Epstein-Barr virus-associated B-cell lymphoma in a patient with DNA ligase IV (LIG4) syndrome. Am J Med Genet A 2007; 143A:742-745. (Pubitemid 46606685)
-
(2007)
American Journal of Medical Genetics, Part A
, vol.143
, Issue.7
, pp. 742-745
-
-
Toita, N.1
Hatano, N.2
Ono, S.3
Yamada, M.4
Kobayashi, R.5
Kobayashi, I.6
Kawamura, N.7
Okano, M.8
Satoh, A.9
Nakagawa, A.10
Ohshima, K.11
Shindoh, M.12
Takami, T.13
Kobayashi, K.14
Ariga, T.15
-
31
-
-
30944455282
-
Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV
-
DOI 10.1002/eji.200535401
-
Buck D, Moshous D, de Chasseval R et al. Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV. Eur J Immunol 2006; 36:224-235. (Pubitemid 43116409)
-
(2006)
European Journal of Immunology
, vol.36
, Issue.1
, pp. 224-235
-
-
Buck, D.1
Moshous, D.2
De Chasseval, R.3
Ma, Y.4
Le Deist, F.5
Cavazzana-Calvo, M.6
Fischer, A.7
Casanova, J.-L.8
Lieber, M.R.9
De Villartay, J.-P.10
-
32
-
-
19544379326
-
Analysis of DNA ligase IV mutations found in LIG4 syndrome patients: The impact of two linked polymorphisms
-
DOI 10.1093/hmg/ddh274
-
Girard P-M, Kysela B, Harer CJ et al. Analysis of DNA ligase IV mutations found in LIG4 syndrome patients: The impact of two linked polymorphisms. Hum Mol Genet 2004; 13:2369-2376. (Pubitemid 39377841)
-
(2004)
Human Molecular Genetics
, vol.13
, Issue.20
, pp. 2369-2376
-
-
Girard, P.-M.1
Kysela, B.2
Harer, C.J.3
Doherty, A.J.4
Jeggo, P.A.5
-
33
-
-
0032537803
-
DNA ligase IV binds to XRCC4 via a motif located between rather than within its BRCT domains
-
Grawunder U, Zimmer D, Lieber MR. DNA ligase IV binds to XRCC4 via a motif located between rather than within its BRCT domains. Curr Biol 1998; 8:873-876. (Pubitemid 28356047)
-
(1998)
Current Biology
, vol.8
, Issue.15
, pp. 873-876
-
-
Grawunder, U.1
Zimmer, D.2
Lieber, M.R.3
-
34
-
-
34247842848
-
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
-
35
-
-
0036909535
-
Genetic variants of NHEJ DNA ligase IV can affect the risk of developing multiple myeloma, a tumour characterised by aberrant class switch recombination
-
Roddam PL, Rollinson S, O'Driscoll M et al. Genetic variants of NHEJ DNA ligase IV can affect the risk of developing multiple myeloma, a tumour characterised by aberrant class-switch recombination. J Med Genet 2002; 39:900-905. (Pubitemid 36009151)
-
(2002)
Journal of Medical Genetics
, vol.39
, Issue.12
, pp. 900-905
-
-
Roddam, P.L.1
Rollinson, S.2
O'Driscoll, M.3
Jeggo, P.A.4
Jack, A.5
Morgan, G.J.6
-
36
-
-
0012161286
-
Isotype class switching and the pathogenesis of multiple myeloma
-
Fenton JAL, Pratt G, Rawstron AC et al. Isotype class switching and the pathogenesis of multiple myeloma. Hematolog Oncol 2002; 19:1-12.
-
(2002)
Hematolog Oncol
, vol.19
, pp. 1-12
-
-
Fenton, J.A.L.1
Pratt, G.2
Rawstron, A.C.3
-
37
-
-
31044446450
-
+ severe combined immunodeficiency caused by a LIG4 mutation
-
DOI 10.1172/JCI26121
-
Van der Burg M, van Veelen LR 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. (Pubitemid 43121798)
-
(2006)
Journal of Clinical Investigation
, vol.116
, Issue.1
, pp. 137-145
-
-
Van Der Burg, M.1
Van Veelen, L.R.2
Verkaik, N.S.3
Wiegant, W.W.4
Hartwig, N.G.5
Barendregt, B.H.6
Brugmans, L.7
Raams, A.8
Jaspers, N.G.J.9
Zdzienicka, M.Z.10
Van Dongen, J.J.M.11
Van Gent, D.C.12
-
39
-
-
33645785057
-
A severe form of human combined immunodeficiency due to mutations in DNA ligase IV
-
Enders A, Fisch P, Schwarz K et al. A severe form of human combined immunodeficiency due to mutations in DNA ligase IV. J Immunol 2006; 176:5060-5068.
-
(2006)
J Immunol
, vol.176
, pp. 5060-5068
-
-
Enders, A.1
Fisch, P.2
Schwarz, K.3
-
40
-
-
0037312006
-
Partial T and B lymphocyte immunodeficiency and predisposition to lymphoma in patients with hypomorphic mutations in Artemis
-
DOI 10.1172/JCI200316774
-
Moshous D, Pannetier C, Chasseval RR et al. Partial T- and B-lymphocyte immunodeficiency and predisposition to lymphoma in patients with hypomorphic mutations in Artemis. J Clin Invest 2003; 111:381-387. (Pubitemid 36182215)
-
(2003)
Journal of Clinical Investigation
, vol.111
, Issue.3
, pp. 381-387
-
-
Moshous, D.1
Pannetier, C.2
De Chasseval, R.3
Le Deist, F.4
Cavazzana-Calvo, M.5
Romana, S.6
Macintyre, E.7
Canioni, D.8
Brousse, N.9
Fischer, A.10
Casanova, J.-L.11
De Villartay, J.-P.12
-
41
-
-
19344374008
-
Omenn syndrome due to ARTEMIS mutations
-
DOI 10.1182/blood-2004-12-4861
-
Ege M, Ma Y, Manfras B et al. Omenn syndrome due to ARTEMIS mutations. Blood 2005; 105:4179-4186. (Pubitemid 40720760)
-
(2005)
Blood
, vol.105
, Issue.11
, pp. 4179-4186
-
-
Ege, M.1
Ma, Y.2
Manfras, B.3
Kalwak, K.4
Lu, H.5
Lieber, M.R.6
Schwarz, K.7
Pannicke, U.8
-
42
-
-
18244362081
-
DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency
-
DOI 10.1016/S1097-2765(01)00408-7
-
Neitzel H, Jeggo PA, Concannon P. DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency. Mol Cell 2001; 8:1175-1185. (Pubitemid 34084990)
-
(2001)
Molecular Cell
, vol.8
, Issue.6
, pp. 1175-1185
-
-
O'Driscoll, M.1
Cerosaletti, K.M.2
Girard, P.-M.3
Dai, Y.4
Stumm, M.5
Kysela, B.6
Hirsch, B.7
Gennery, A.8
Palmer, S.E.9
Seidel, J.10
Gatti, R.A.11
Varon, R.12
Oettinger, M.A.13
Neitzel, H.14
Jeggo, P.A.15
Concannon, P.16
-
43
-
-
0037441592
-
Radiosensitive SCID patients with Artemis gene mutations show a complete B-cell differentiation arrest at the pre-B-cell receptor checkpoint in bone marrow
-
DOI 10.1182/blood-2002-01-0187
-
Noordzij JG, Verkaik NS, van der Burg M et al. Radiosensitive SCID patients with Artemis gene mutations show a complete B-cell differentiation arrest at the preB-cell receptor checkpoint in bone marrow. Blood 2003; 101:1446-1452. (Pubitemid 36182519)
-
(2003)
Blood
, vol.101
, Issue.4
, pp. 1446-1452
-
-
Noordzij, J.G.1
Verkaik, N.S.2
Van Der Burg, M.3
Van Veelen, L.R.4
De Bruin-Versteeg, S.5
Wiegant, W.6
Vossen, J.M.J.J.7
Weemaes, C.M.R.8
De Groot, R.9
Zdzienicka, M.Z.10
Van Gent, D.C.11
Van Dongen, J.J.M.12
|