-
1
-
-
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 (Amst) 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
-
2
-
-
9744220428
-
A pathway of double-strand break rejoining dependent upon ATM, Artemis, and proteins locating to γ-H2AX foci
-
DOI 10.1016/j.molcel.2004.10.029, PII S1097276504006549
-
Riballo E, Kuhne M, Rief N et al. A pathway of double-strand break rejoining dependent upon ATM, Artemis and proteins locating to gamma-H2AX foci. Mol Cell 2004; 16:715-724. (Pubitemid 39586530)
-
(2004)
Molecular Cell
, vol.16
, Issue.5
, pp. 715-724
-
-
Riballo, E.1
Kuhne, M.2
Rief, N.3
Doherty, A.4
Smith, G.C.M.5
Recio, M.-J.6
Reis, C.7
Dahm, K.8
Fricke, A.9
Krempler, A.10
Parker, A.R.11
Jackson, S.P.12
Gennery, A.13
Jeggo, P.A.14
Lobrich, M.15
-
3
-
-
33747097562
-
ATM stabilizes DNA double-strand-break complexes during V(D)J recombination
-
DOI 10.1038/nature04866, PII NATURE04866
-
Bredemeyer AL, Sharma GG, Huang CY et al. ATM stabilizes DNA double-strand-break complexes during V(D)J recombination. Nature 2006; 442:466-470. (Pubitemid 44264797)
-
(2006)
Nature
, vol.442
, Issue.7101
, pp. 466-470
-
-
Bredemeyer, A.L.1
Sharma, G.G.2
Huang, C.-Y.3
Helmink, B.A.4
Walker, L.M.5
Khor, K.C.6
Nuskey, B.7
Sullivan, K.E.8
Pandita, T.K.9
Bassing, C.H.10
Sleckman, B.P.11
-
4
-
-
34250374139
-
Defects in coding joint formation in vivo in developing ATM-deficient B and T lymphocytes
-
DOI 10.1084/jem.20061460
-
Huang CY, Sharma GG, Walker LM et al. Defects in coding joint formation in vivo in developing ATM-deficient B- and T-lymphocytes. J Exp Med 2007; 204:1371-1381. (Pubitemid 46919875)
-
(2007)
Journal of Experimental Medicine
, vol.204
, Issue.6
, pp. 1371-1381
-
-
Huang, C.-Y.1
Sharma, G.G.2
Walker, L.M.3
Bassing, C.H.4
Pandita, T.K.5
Sleckman, B.P.6
-
5
-
-
63449084054
-
MRN complex function in the repair of chromosomal Rag-mediated DNA double-strand breaks
-
Helmink BA, Bredemeyer AL, Lee BS et al. MRN complex function in the repair of chromosomal Rag-mediated DNA double-strand breaks. J Exp Med 2009; 206:669-679.
-
(2009)
J Exp Med
, vol.206
, pp. 669-679
-
-
Helmink, B.A.1
Bredemeyer, A.L.2
Lee, B.S.3
-
6
-
-
0037080679
-
Sensing of intermediates in V(D) J recombination by ATM
-
Perkins EJ, Nair A, Cowley DO et al. Sensing of intermediates in V(D)J recombination by ATM. Genes Dev 2002; 16:159-164.
-
(2002)
Genes Dev
, vol.16
, pp. 159-164
-
-
Perkins, E.J.1
Nair, A.2
Cowley, D.O.3
-
7
-
-
0034623860
-
Response to RAG-mediated VDJ cleavage by NBS1 andα-H2AX
-
Chen HT, Bhandoola A, Difilippantonio MJ et al. Response to RAG-mediated VDJ cleavage by NBS1 andα-H2AX. Science 2000; 290:1962-1965.
-
(2000)
Science
, vol.290
, pp. 1962-1965
-
-
Chen, H.T.1
Bhandoola, A.2
Difilippantonio, M.J.3
-
8
-
-
0037711771
-
Histone H2AX phosphorylation is dispensable for the initial recognition of DNA breaks
-
DOI 10.1038/ncb1004
-
Celeste A, Fernandez-Capetillo O, Kruhlak MJ et al. Histone H2AX phosphorylation is dispensable for the initial recognition of DNA breaks. Nat Cell Biol 2003; 5:675-679. (Pubitemid 36818091)
-
(2003)
Nature Cell Biology
, vol.5
, Issue.7
, pp. 675-679
-
-
Celeste, A.1
Fernandez-Capetillo, O.2
Kruhlak, M.J.3
Pilch, D.R.4
Staudt, D.W.5
Lee, A.6
Bonner, R.F.7
Bonner, W.M.8
Nussenzweig, A.9
-
9
-
-
3242891189
-
The Mre11 complex and the metabolism of chromosome breaks: The importance of communicating and holding things together
-
DOI 10.1016/j.dnarep.2004.03.014, PII S1568786404000734
-
Stracker TH, Theunissen JW, Morales M et al. The Mre11 complex and the metabolism of chromosome breaks: The importance of communicating and holding things together. DNA Repair (Amst) 2004; 3:845-854. (Pubitemid 38997926)
-
(2004)
DNA Repair
, vol.3
, Issue.8-9
, pp. 845-854
-
-
Stracker, T.H.1
Theunissen, J.-W.F.2
Morales, M.3
Petrini, J.H.J.4
-
10
-
-
22144462810
-
Role of Nbs1 in the activation of the Atm kinase revealed in humanized mouse models
-
DOI 10.1038/ncb1270
-
Difilippantonio S, Celeste A, Fernandez-Capetillo O et al. Role of Nbs1 in the activation of the Atm kinase revealed in humanized mouse models. Nat Cell Biol 2005; 7:675-685. (Pubitemid 40975748)
-
(2005)
Nature Cell Biology
, vol.7
, Issue.7
, pp. 675-685
-
-
Difilippantonio, S.1
Celeste, A.2
Fernandez-Capetillo, O.3
Chen, H.-T.4
San Martin, B.R.5
Van Laethem, F.6
Yang, Y.-P.7
Petukhova, G.V.8
Eckhaus, M.9
Feigenbaum, L.10
Manova, K.11
Kruhlak, M.12
Camerini-Otero, R.D.13
Sharan, S.14
Nussenzweig, M.15
Nussenzweig, A.16
-
11
-
-
0025954329
-
Transrearrangements between antigen receptor genes in normal human lymphoid tissues and in ataxia telangiectasia
-
Kobayashi Y, Tycko B, Soreng AL et al. Transrearrangements between antigen receptor genes in normal human lymphoid tissues and in ataxia telangiectasia. J Immunol 1991; 147:3201-3209.
-
(1991)
J Immunol
, vol.147
, pp. 3201-3209
-
-
Kobayashi, Y.1
Tycko, B.2
Soreng, A.L.3
-
12
-
-
34848843525
-
Rag mutations reveal robust alternative end joining
-
DOI 10.1038/nature06168, PII NATURE06168
-
Corneo B, Wendland RL, Deriano L et al. Rag mutations reveal robust alternative end joining. Nature 2007; 449:483-486. (Pubitemid 47509551)
-
(2007)
Nature
, vol.449
, Issue.7161
, pp. 483-486
-
-
Corneo, B.1
Wendland, R.L.2
Deriano, L.3
Cui, X.4
Klein, I.A.5
Wong, S.-Y.6
Arnal, S.7
Holub, A.J.8
Weller, G.R.9
Pancake, B.A.10
Shah, S.11
Brandt, V.L.12
Meek, K.13
Roth, D.B.14
-
13
-
-
0025345212
-
Circular DNA is excised by immunoglobulin class switch recombination
-
Iwasato T, Shimizu A, Honjo T et al. Circular DNA is excised by immunoglobulin class switch recombination. Cell 1990; 62:143-149.
-
(1990)
Cell
, vol.62
, pp. 143-149
-
-
Iwasato, T.1
Shimizu, A.2
Honjo, T.3
-
14
-
-
0034268780
-
Class switch recombination and hypermutation require activation- induced cytidine deaminase (AID), a potential RNA editing enzyme
-
Muramatsu M, Kinoshita K, Fagarasan S et al. Class switch recombination and hypermutation require activation- induced cytidine deaminase (AID), a potential RNA editing enzyme. Cell 2000; 102:553-563.
-
(2000)
Cell
, vol.102
, pp. 553-563
-
-
Muramatsu, M.1
Kinoshita, K.2
Fagarasan, S.3
-
15
-
-
0034264851
-
Activation-Induced cytidine Deaminase (AID) deficiency causes the autosomal recessive form of Hyper-IgM syndrome (HIGM2)
-
Revy P, Muto T, Levy Y et al. Activation-Induced cytidine Deaminase (AID) deficiency causes the autosomal recessive form of Hyper-IgM syndrome (HIGM2). Cell 2000; 102:565-575.
-
(2000)
Cell
, vol.102
, pp. 565-575
-
-
Revy, P.1
Muto, T.2
Levy, Y.3
-
17
-
-
0037108463
-
Immunoglobulin isotype switching is inhibited and somatic hypermutation perturbed in UNG-deficient mice
-
DOI 10.1016/S0960-9822(02)01215-0, PII S0960982202012150
-
Rada C, Williams GT, Nilsen H et al. Immunoglobulin isotype switching is inhibited and somatic hypermutation perturbed in UNG-deficient mice. Curr Biol 2002; 12:1748-1755. (Pubitemid 35169790)
-
(2002)
Current Biology
, vol.12
, Issue.20
, pp. 1748-1755
-
-
Rada, C.1
Williams, G.T.2
Nilsen, H.3
Barnes, D.E.4
Lindahl, T.5
Neuberger, M.S.6
-
18
-
-
36549036731
-
APE1- And APE2-dependent DNA breaks in immunoglobulin class switch recombination
-
DOI 10.1084/jem.20071289
-
Guikema JE, Linehan EK, Tsuchimoto D et al. APE1- and APE2-dependent DNA breaks in immunoglobulin class switch recombination. J Exp Med 2007; 204:3017-3026. (Pubitemid 350182393)
-
(2007)
Journal of Experimental Medicine
, vol.204
, Issue.12
, pp. 3017-3026
-
-
Guikema, J.E.J.1
Linehan, E.K.2
Tsuchimoto, D.3
Nakabeppu, Y.4
Strauss, P.R.5
Stavnezer, J.6
Schrader, C.E.7
-
19
-
-
33748443257
-
-/- mice
-
DOI 10.1084/jem.20061067
-
Xue K, Rada C, Neuberger MS. The in vivo pattern of AID targeting to immunoglobulin switch regions deduced from mutation spectra in msh2-/- ung-/- mice. J Exp Med 2006; 203:2085-2094. (Pubitemid 44352230)
-
(2006)
Journal of Experimental Medicine
, vol.203
, Issue.9
, pp. 2085-2094
-
-
Xue, K.1
Rada, C.2
Neuberger, M.S.3
-
20
-
-
14244250387
-
MSH2-MSH6 stimulates DNA polymerase η, suggesting a role for A:T mutations in antibody genes
-
DOI 10.1084/jem.20042066
-
Wilson TM, Vaisman A, Martomo SA et al. MSH2-MSH6 stimulates DNA polymerase eta, suggesting a role for A:T mutations in antibody genes. J Exp Med 2005; 201:637-645. (Pubitemid 40289553)
-
(2005)
Journal of Experimental Medicine
, vol.201
, Issue.4
, pp. 637-645
-
-
Wilson, T.M.1
Vaisman, A.2
Martomo, S.A.3
Sullivan, P.4
Lan, L.5
Hanaoka, F.6
Yasui, A.7
Woodgate, R.8
Gearhart, P.J.9
-
21
-
-
34249947699
-
ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage
-
DOI 10.1126/science.1140321
-
Matsuoka S, Ballif BA, Smogorzewska A et al. ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage. Science 2007; 316:1160-1166. (Pubitemid 46877472)
-
(2007)
Science
, vol.316
, Issue.5828
, pp. 1160-1166
-
-
Matsuoka, S.1
Ballif, B.A.2
Smogorzewska, A.3
McDonald III, E.R.4
Hurov, K.E.5
Luo, J.6
Bakalarski, C.E.7
Zhao, Z.8
Solimini, N.9
Lerenthal, Y.10
Shiloh, Y.11
Gygi, S.P.12
Elledge, S.J.13
-
22
-
-
0037017390
-
Role for mismatch repair proteins Msh2, Mlh1, and Pms2 in immunoglobulin class switching shown by sequence analysis of recombination junctions
-
DOI 10.1084/jem.20011877
-
Schrader CE, Vardo J, Stavnezer J. Role for mismatch repair proteins Msh2, Mlh1 and Pms2 in immunoglobulin class switching shown by sequence analysis of recombination junctions. J Exp Med 2002; 195:367-373. (Pubitemid 34461495)
-
(2002)
Journal of Experimental Medicine
, vol.195
, Issue.3
, pp. 367-373
-
-
Schrader, C.E.1
Vardo, J.2
Stavnezer, J.3
-
23
-
-
58149165112
-
Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination
-
Péron S, Metin A, Gardés P et al. Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination. J Exp Med 2008; 205:2465-2472.
-
(2008)
J Exp Med
, vol.205
, pp. 2465-2472
-
-
Péron, S.1
Metin, A.2
Gardés, P.3
-
24
-
-
33847236576
-
The Bloom's syndrome helicase is critical for development and function of the alphabeta T-cell lineage
-
Babbe H, Chester N, Leder P et al. The Bloom's syndrome helicase is critical for development and function of the alphabeta T-cell lineage. Mol Cell Biol 2007; 27:1947-1959.
-
(2007)
Mol Cell Biol
, vol.27
, pp. 1947-1959
-
-
Babbe, H.1
Chester, N.2
Leder, P.3
-
25
-
-
0141626769
-
The bloom's syndrome helicase interacts directly with the human DNA mismatch repair protein hMSH6
-
DOI 10.1515/BC.2003.128
-
Pedrazzi G, Bachrati CZ, Selak N et al. The Bloom's syndrome helicase interacts directly with the human DNA mismatch repair protein hMSH6. Biol Chem 2003; 384:1155-1164. (Pubitemid 37121188)
-
(2003)
Biological Chemistry
, vol.384
, Issue.8
, pp. 1155-1164
-
-
Pedrazzi, G.1
Bachrati, C.Z.2
Selak, N.3
Studer, I.4
Petkovic, M.5
Hickson, I.D.6
Jiricny, J.7
Stagljar, I.8
-
26
-
-
0035504589
-
Direct association of Bloom's syndrome gene product with the human mismatch repair protein MLH1
-
Pedrazzi G, Perrera C, Blaser H et al. Direct association of Bloom's syndrome gene product with the human mismatch repair protein MLH1. Nucleic Acids Res 2001; 29:4378-4386. (Pubitemid 33064778)
-
(2001)
Nucleic Acids Research
, vol.29
, Issue.21
, pp. 4378-4386
-
-
Pedrazzi, G.1
Perrera, C.2
Blaser, H.3
Kuster, P.4
Marra, G.5
Davies, S.L.6
Ryu, G.-H.7
Freire, R.8
Hickson, I.D.9
Jiricny, J.10
Stagljar, I.11
-
27
-
-
36549008815
-
Activation-induced cytidine deaminase-dependent DNA breaks in class switch recombination occur during G1 phase of the cell cycle and depend upon mismatch repair
-
Schrader CE, Guikema JE, Linehan EK et al. Activation-induced cytidine deaminase-dependent DNA breaks in class switch recombination occur during G1 phase of the cell cycle and depend upon mismatch repair. J Immunol 2007; 179:6064-6071.
-
(2007)
J Immunol
, vol.179
, pp. 6064-6071
-
-
Schrader, C.E.1
Guikema, J.E.2
Linehan, E.K.3
-
28
-
-
34748863465
-
IgH class switching and translocations use a robust non-classical end-joining pathway
-
DOI 10.1038/nature06020, PII NATURE06020
-
Yan CT, Boboila C, Souza EK et al. IgH class switching and translocations use a robust nonclassical end-joining pathway. Nature 2007; 449:478-482. (Pubitemid 47509538)
-
(2007)
Nature
, vol.449
, Issue.7161
, pp. 478-482
-
-
Yan, C.T.1
Boboila, C.2
Souza, E.K.3
Franco, S.4
Hickernell, T.R.5
Murphy, M.6
Gumaste, S.7
Geyer, M.8
Zarrin, A.A.9
Manis, J.P.10
Rajewsky, K.11
Alt, F.W.12
-
29
-
-
34447551681
-
Roles of ATM and NBS1 in chromatin structure modulation and DNA double-strand break repair
-
DOI 10.1038/ncb1599, PII NCB1599
-
Berkovich E, Monnat RJ Jr, Kastan MB. Roles of ATM and NBS1 in chromatin structure modulation and DNA double-strand break repair. Nat Cell Biol 2007; 9:683-690. (Pubitemid 47214731)
-
(2007)
Nature Cell Biology
, vol.9
, Issue.6
, pp. 683-690
-
-
Berkovich, E.1
Monnat Jr., R.J.2
Kastan, M.B.3
-
30
-
-
0035834693
-
ATM phosphorylates histone H2AX in response to DNA double- strand breaks
-
Burma S, Chen BP, Murphy M et al. ATM phosphorylates histone H2AX in response to DNA double- strand breaks. J Biol Chem 2001; 276:42462-42467.
-
(2001)
J Biol Chem
, vol.276
, pp. 42462-42467
-
-
Burma, S.1
Chen, B.P.2
Murphy, M.3
-
31
-
-
60849114396
-
Histone H2AX participates the DNA damage-induced ATM activation through interaction with NBS1
-
Kobayashi J, Tauchi H, Chen B et al. Histone H2AX participates the DNA damage-induced ATM activation through interaction with NBS1. Biochem Biophys Res Commun 2009; 380:752-757.
-
(2009)
Biochem Biophys Res Commun
, vol.380
, pp. 752-757
-
-
Kobayashi, J.1
Tauchi, H.2
Chen, B.3
-
32
-
-
2542463148
-
53BP1 is required for class switch recombination
-
DOI 10.1083/jcb.200403021
-
Ward IM, Reina-San-Martin B, Olaru A et al. 53BP1 is required for class switch recombination. J Cell Biol 2004; 165:459-464. (Pubitemid 38679611)
-
(2004)
Journal of Cell Biology
, vol.165
, Issue.4
, pp. 459-464
-
-
Ward, I.M.1
Reina-San-Martin, B.2
Olaru, A.3
Minn, K.4
Tamada, K.5
Lau, J.S.6
Cascalho, M.7
Chen, L.8
Nussenzweig, A.9
Livak, F.10
Nussenzweig, M.C.11
Chen, J.12
-
34
-
-
41149099048
-
DNA-PKcs and Artemis function in the end-joining phase of immunoglobulin heavy chain class switch recombination
-
DOI 10.1084/jem.20080044
-
Franco S, Murphy MM, Li G et al. DNA-PKcs and Artemis function in the end-joining phase of immunoglobulin heavy chain class switch recombination. J Exp Med 2008; 205:557-564. (Pubitemid 351439303)
-
(2008)
Journal of Experimental Medicine
, vol.205
, Issue.3
, pp. 557-564
-
-
Franco, S.1
Murphy, M.M.2
Li, G.3
Borjeson, T.4
Boboila, C.5
Alt, F.W.6
-
35
-
-
59649083970
-
Involvement of Artemis in nonhomologous end-joining during immunoglobulin class switch recombination
-
Du L, van der Burg M, Popov SW et al. Involvement of Artemis in nonhomologous end-joining during immunoglobulin class switch recombination. J Exp Med 2008; 205:3031-3040.
-
(2008)
J Exp Med
, vol.205
, pp. 3031-3040
-
-
Du, L.1
Van Der Burg, M.2
Popov, S.W.3
-
36
-
-
13244268505
-
Impact of DNA ligase IV on nonhomologous end joining pathways during class switch recombination in human cells
-
DOI 10.1084/jem.20040772
-
Pan-Hammarstrom Q, Jones AM, Lahdesmaki A et al. Impact of DNA ligase IV on nonhomologous end joining pathways during class switch recombination in human cells. J Exp Med 2005; 201:189-194. (Pubitemid 40189427)
-
(2005)
Journal of Experimental Medicine
, vol.201
, Issue.2
, pp. 189-194
-
-
Pan-Hammarstrom, Q.1
Jones, A.-M.2
Lahdesmaki, A.3
Zhou, W.4
Gatti, R.A.5
Hammarstrom, L.6
Gennery, A.R.7
Ehrenstein, M.R.8
-
37
-
-
25444471892
-
Poly(ADP-ribose) polymerase (PARP-1) in homologous recombination and as a target for cancer therapy
-
Helleday T, Bryant HE, Schultz N. Poly (ADP-ribose) polymerase (PARP-1) in homologous recombination and as a target for cancer therapy. Cell Cycle 2005; 4:1176-1178. (Pubitemid 41365386)
-
(2005)
Cell Cycle
, vol.4
, Issue.9
, pp. 1176-1178
-
-
Helleday, T.1
Bryant, H.E.2
Schultz, N.3
-
38
-
-
11244280890
-
Involvement of poly(ADP-ribose) polymerase-1 and XRCC1/DNA ligase III in an alternative route for DNA double-strand breaks rejoining
-
DOI 10.1074/jbc.M404524200
-
Audebert M, Salles B, Calsou P. Involvement of poly (ADP-ribose) polymerase-1 and XRCC1/ DNA ligase III in an alternative route for DNA double-strand breaks rejoining. J Biol Chem 2004; 279:55117-55126. (Pubitemid 40066505)
-
(2004)
Journal of Biological Chemistry
, vol.279
, Issue.53
, pp. 55117-55126
-
-
Audebert, M.1
Salles, B.2
Calsou, P.3
-
39
-
-
20144363082
-
DNA ligase III as a candidate component of backup pathways of nonhomologous end joining
-
DOI 10.1158/0008-5472.CAN-04-3055
-
Wang H, Rosidi B, Perrault R et al. DNA ligase III as a candidate component of backup pathways of nonhomologous end joining. Cancer Res 2005; 65:4020-30. (Pubitemid 40775638)
-
(2005)
Cancer Research
, vol.65
, Issue.10
, pp. 4020-4030
-
-
Wang, H.1
Rosidi, B.2
Perrault, R.3
Wang, M.4
Zhang, L.5
Windhofer, F.6
Iliakis, G.7
-
40
-
-
66049143898
-
Parp1 facilitates alternative NHEJ, whereas Parp2 suppresses IgH/c-myc translocations during immunoglobulin class switch recombination
-
Robert I, Dantzer F, Reina-San-Martin B. Parp1 facilitates alternative NHEJ, whereas Parp2 suppresses IgH/c-myc translocations during immunoglobulin class switch recombination. J Exp Med 2009; 206:1047-1056.
-
(2009)
J Exp Med
, vol.206
, pp. 1047-1056
-
-
Robert, I.1
Dantzer, F.2
Reina-San-Martin, B.3
-
41
-
-
45549094090
-
Human DNA ligases I and III, but not ligase IV, are required for microhomology-mediated end joining of DNA double-strand breaks
-
DOI 10.1093/nar/gkn184
-
Liang L, Deng L, Nguyen SC et al. Human DNA ligases I and III, but not ligase IV, are required for microhomology- mediated end joining of DNA double-strand breaks. Nucleic Acids Res 2008; 36:3297-3310. (Pubitemid 351858999)
-
(2008)
Nucleic Acids Research
, vol.36
, Issue.10
, pp. 3297-3310
-
-
Liang, L.1
Deng, L.2
Nguyen, S.C.3
Zhao, X.4
Maulion, C.D.5
Shao, C.6
Tischfield, J.A.7
-
42
-
-
34249850294
-
Role for Msh5 in the regulation of Ig class switch recombination
-
DOI 10.1073/pnas.0700815104
-
Sekine H, Ferreira RC, Pan-Hammarström Q et al. Role for Msh5 in the regulation of Ig class switch recombination. Proc Natl Acad Sci USA 2007; 104:7193-7198. (Pubitemid 47186031)
-
(2007)
Proceedings of the National Academy of Sciences of the United States of America
, vol.104
, Issue.17
, pp. 7193-7198
-
-
Sekine, H.1
Ferreira, R.C.2
Pan-Hammarstrom, Q.3
Graham, R.R.4
Ziemba, B.5
De Vries, S.S.6
Liu, J.7
Hippen, K.8
Koeuth, T.9
Ortmann, W.10
Iwahori, A.11
Elliott, M.K.12
Offer, S.13
Skon, C.14
Du, L.15
Novitzke, J.16
Lee, A.T.17
Zhao, N.18
Tompkins, J.D.19
Altshuler, D.20
Gregersen, P.K.21
Cunningham-Rundles, C.22
Harris, R.S.23
Her, C.24
Nelson, D.L.25
Hammarstrom, L.26
Gilkeson, G.S.27
Behrens, T.W.28
more..
-
43
-
-
0020534350
-
MRNA sequences define an unusually restricted IgG response to 2-phenyloxazolone and its early diversification
-
Kaartinen M, Griffiths GM, Markham AF et al. mRNA sequences define an unusually restricted IgG response to 2-phenyloxazolone and its early diversification. Nature 1983; 304:320-324. (Pubitemid 13072751)
-
(1983)
Nature
, vol.304
, Issue.5924
, pp. 320-324
-
-
Kaartinen, M.1
Griffiths, G.M.2
Markham, A.F.3
Milstein, C.4
-
44
-
-
0031918097
-
Progress in understanding the mechanism and consequences of somatic hypermutation
-
Storb U. Progress in understanding the mechanism and consequences of somatic hypermutation. Immunol Rev 1998; 162:5-11.
-
(1998)
Immunol Rev
, vol.162
, pp. 5-11
-
-
Storbaut Storb, U.1
-
46
-
-
65249161710
-
Interference of mismatch and base excision repair during the processing of adjacent U/G mispairs may play a key role in somatic hypermutation
-
Schanz S, Castor D, Fischer F et al. Interference of mismatch and base excision repair during the processing of adjacent U/G mispairs may play a key role in somatic hypermutation. Proc Natl Acad Sci USA 2009; 106:5593-5598.
-
(2009)
Proc Natl Acad Sci USA
, vol.106
, pp. 5593-5598
-
-
Schanz, S.1
Castor, D.2
Fischer, F.3
-
47
-
-
27644524833
-
MRE11/RAD50 cleaves DNA in the AID/UNG-dependent pathway of immunoglobulin gene diversification
-
DOI 10.1016/j.molcel.2005.09.018, PII S1097276505016394
-
Larson ED, Cummings WJ, Bednarski DW et al. MRE11/RAD50 cleaves DNA in the AID/ UNG-dependent pathway of immunoglobulin gene diversification. Mol Cell 2005; 20:367-375. (Pubitemid 41572294)
-
(2005)
Molecular Cell
, vol.20
, Issue.3
, pp. 367-375
-
-
Larson, E.D.1
Cummings, W.J.2
Bednarski, D.W.3
Maizels, N.4
-
48
-
-
0031802496
-
Somatic hypermutation of immunoglobulin genes is independent of the Bloom's syndrome DNA helicase
-
DOI 10.1046/j.1365-2249.1998.00575.x
-
Sack SZ, Liu Y, German J et al. Somatic hypermutation of immunoglobulin genes is independent of the Bloom's syndrome DNA helicase. Clin Exp Immunol 1998; 112:248-254. (Pubitemid 28266683)
-
(1998)
Clinical and Experimental Immunology
, vol.112
, Issue.2
, pp. 248-254
-
-
Sack, S.Z.1
Liu, Y.2
German, J.3
Green, N.S.4
-
49
-
-
10144253125
-
RAG mutations in human B cell-negative SCID
-
DOI 10.1126/science.274.5284.97
-
Schwarz K, Glaus GH, Ludwig L et al. RAG mutations in human B-cell-negative SCID. Science 1996; 274:97-99. (Pubitemid 26332732)
-
(1996)
Science
, vol.274
, Issue.5284
, pp. 97-99
-
-
Schwarz, K.1
Gauss, G.H.2
Ludwig, L.3
Pannicke, U.4
Li, Z.5
Lindner, D.6
Friedrich, W.7
Seger, R.A.8
Hansen-Hagge, T.E.9
Desiderio, S.10
Lieber, M.R.11
Bartram, C.R.12
-
50
-
-
0032577548
-
Partial V(D)J recombination activity leads to omenn syndrome
-
DOI 10.1016/S0092-8674(00)81448-8
-
Villa A, Santagata S, Bozzi F et al. Partial V(D)J recombination activity leads to Omenn syndrome. Cell 1998; 93:885-896. (Pubitemid 28257593)
-
(1998)
Cell
, vol.93
, Issue.5
, pp. 885-896
-
-
Villa, A.1
Santagata, S.2
Bozzi, F.3
Giliani, S.4
Frattini, A.5
Imberti, L.6
Gatta, L.B.7
Ochs, H.D.8
Schwarz, K.9
Notarangelo, L.D.10
Vezzoni, P.11
Spanopoulou, E.12
-
51
-
-
0000263266
-
Familial reticuloendotheliosis with eosinophilia
-
Omenn GS. Familial reticuloendotheliosis with eosinophilia. N Engl J Med 1965; 273:427-432.
-
(1965)
N Engl J Med
, vol.273
, pp. 427-432
-
-
Omenn, G.S.1
-
52
-
-
0032527898
-
Highly restricted human T cell repertoire in peripheral blood and tissue-infiltrating lymphocytes in Omenn's syndrome
-
Rieux-Laucat F, Bahadoran P, Brousse N et al. Highly restricted human T-cell repertoire beta (TCRB) chain diversity in peripheral blood and tissue-infiltrating lymphocytes in Omenn's syndrom (severe combined immunodeficiency with hypereosinophilia). J Clin Invest 1998; 102:312-321. (Pubitemid 28335190)
-
(1998)
Journal of Clinical Investigation
, vol.102
, Issue.2
, pp. 312-321
-
-
Rieux-Laucat, F.1
Bahadoran, P.2
Brousse, N.3
Selz, F.4
Fischer, A.5
Le Deist, F.6
De Villartay, J.P.7
-
53
-
-
27644538025
-
A variant of SCID with specific immune responses and predominance of γδ T cells
-
DOI 10.1172/JCI25221
-
Ehl S, Schwarz K, Enders A et al. A variant of SCID with specific immune responses and predominance of gamma delta T-cells. J Clin Invest 2005; 115:3140-3148. (Pubitemid 41567578)
-
(2005)
Journal of Clinical Investigation
, vol.115
, Issue.11
, pp. 3140-3148
-
-
Ehl, S.1
Schwarz, K.2
Enders, A.3
Duffner, U.4
Pannicke, U.5
Kuhr, J.6
Mascart, F.7
Schmitt-Graeff, A.8
Niemeyer, C.9
Fisch, P.10
-
54
-
-
27644559049
-
A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection
-
DOI 10.1172/JCI25178
-
de Villartay JP, Lim A, Al-Mousa H et al. A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection. J Clin Invest 2005; 115:3291-3299. (Pubitemid 41567594)
-
(2005)
Journal of Clinical Investigation
, vol.115
, Issue.11
, pp. 3291-3299
-
-
De Villartay, J.-P.1
Lim, A.2
Al-Mousa, H.3
Dupont, S.4
Dechanet-Merville, J.5
Coumau-Gatbois, E.6
Gougeon, M.-L.7
Lemainque, A.8
Eidenschenk, C.9
Jouanguy, E.10
Abel, L.11
Casanova, J.-L.12
Fischer, A.13
Le Deist, F.14
-
55
-
-
43249105936
-
An immunodeficiency disease with RAG mutations and granulomas
-
DOI 10.1056/NEJMoa073966
-
Schuetz C, Huck K, Gudowius S et al. An immunodeficiency disease with RAG mutations and granulomas. N Engl J Med 2008; 358:2030-2038. (Pubitemid 351656457)
-
(2008)
New England Journal of Medicine
, vol.358
, Issue.19
, pp. 2030-2038
-
-
Schuetz, C.1
Huck, K.2
Gudowius, S.3
Megahed, M.4
Feyen, O.5
Hubner, B.6
Schneider, D.T.7
Manfras, B.8
Pannicke, U.9
Willemze, R.10
Knuchel, R.11
Gobel, U.12
Schulz, A.13
Borkhardt, A.14
Friedrich, W.15
Schwarz, K.16
Niehues, T.17
-
56
-
-
0035917489
-
Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency
-
DOI 10.1016/S0092-8674(01)00309-9
-
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. (Pubitemid 32429508)
-
(2001)
Cell
, vol.105
, Issue.2
, pp. 177-186
-
-
Moshous, D.1
Callebaut, I.2
De Chasseval, R.3
Corneo, B.4
Cavazzana-Calvo, M.5
Le Deist, F.6
Tezcan, I.7
Sanal, O.8
Bertrand, Y.9
Philippe, N.10
Fischer, A.11
De Villartay, J.-P.12
-
57
-
-
0026245630
-
Severe combined immunodeficiency among the Navajo. I. Characterization of phenotypes, epidemiology and population genetics
-
Jones JF, Ritenbaugh CK, Spence MA et al. Severe combined immunodeficiency among the Navajo. I. Characterization of phenotypes, epidemiology and population genetics. Hum Biol 1991; 63:669-682.
-
(1991)
Hum Biol
, vol.63
, pp. 669-682
-
-
Jones, J.F.1
Ritenbaugh, C.K.2
Spence, M.A.3
-
58
-
-
0027404942
-
Increased radiosensitivity of granulocyte macrophage colony-forming units and skin fibroblasts in human autosomal recessive severe combined immunodeficiency
-
Cavazzana-Calvo M, Le Deist F, de Saint Basile G et al. Increased radiosensitivity of granulocyte macrophage colony-forming units and skin fibroblasts in human autosomal recessive severe combined immunodeficiency. J Clin Invest 1993; 91:1214-1218. (Pubitemid 23095301)
-
(1993)
Journal of Clinical Investigation
, vol.91
, Issue.3
, pp. 1214-1218
-
-
Cavazzana-Calvo, M.1
Le Deist, F.2
De Saint Basile, G.3
Papadopoulo, D.4
De Villartay, J.P.5
Fischer, A.6
-
59
-
-
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
-
60
-
-
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, de Chasseval R 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
-
61
-
-
33645834965
-
Radiation-induced delayed cell death in a hypomorphic Artemis cell line
-
Evans PM, Woodbine L, Riballo E et al. Radiation-induced delayed cell death in a hypomorphic Artemis cell line. Hum Mol Genet 2006; 15:1303-1311.
-
(2006)
Hum Mol Genet
, vol.15
, pp. 1303-1311
-
-
Evans, P.M.1
Woodbine, L.2
Riballo, E.3
-
62
-
-
61749104245
-
A DNA-PKcs mutation in a radiosensitive T-B- SCID patient inhibits Artemis activation and nonhomologous end-joining
-
van der Burg M, Ijspeert H, Verkaik NS et al. A DNA-PKcs mutation in a radiosensitive T-B- SCID patient inhibits Artemis activation and nonhomologous end-joining. J Clin Invest 2009; 119:91-98.
-
(2009)
J Clin Invest
, vol.119
, pp. 91-98
-
-
Van Der Burg, M.1
Ijspeert, H.2
Verkaik, N.S.3
-
63
-
-
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 SH 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
-
64
-
-
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 PM 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
-
65
-
-
67651236954
-
A novel mutation in a family with DNA ligase IV deficiency syndrome
-
Unal S, Cerosaletti K, Uckan-Cetinkaya D et al. A novel mutation in a family with DNA ligase IV deficiency syndrome. Pediatr Blood Cancer 2009; 53:482-484.
-
(2009)
Pediatr Blood Cancer
, vol.53
, pp. 482-484
-
-
Unal, S.1
Cerosaletti, K.2
Uckan-Cetinkaya, D.3
-
66
-
-
31044446450
-
+ severe combined immunodeficiency caused by a LIG4 mutation
-
DOI 10.1172/JCI26121
-
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. (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
-
67
-
-
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
-
68
-
-
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, Concannon P et al. A patient with mutations in DNA Ligase IV: Clinical features and overlap with Nijmegen breakage syndrome. Am J Med Genet A 2005; 137:283-287. (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
-
69
-
-
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
-
70
-
-
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; 143:742-745. (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
-
71
-
-
57149133526
-
Omenn syndrome is associated with mutations in DNA ligase IV
-
Grunebaum E, Bates A, Roifman CM. Omenn syndrome is associated with mutations in DNA ligase IV. J Allergy Clin Immunol 2008; 122:1219-1220.
-
(2008)
J Allergy Clin Immunol
, vol.122
, pp. 1219-1220
-
-
Grunebaum, E.1
Bates, A.2
Roifman, C.M.3
-
72
-
-
31044440630
-
Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly
-
DOI 10.1016/j.cell.2005.12.030, PII S009286740600002X
-
Buck D, Malivert L, de Chasseval R et al. Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly. Cell 2006; 124:287-299. (Pubitemid 43121978)
-
(2006)
Cell
, vol.124
, Issue.2
, pp. 287-299
-
-
Buck, D.1
Malivert, L.2
De Chasseval, R.3
Barraud, A.4
Fondaneche, M.-C.5
Sanal, O.6
Plebani, A.7
Stephan, J.-L.8
Hufnagel, M.9
Le Deist, F.10
Fischer, A.11
Durandy, A.12
De Villartay, J.-P.13
Revy, P.14
-
73
-
-
31044432090
-
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 nonhomologous 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
-
74
-
-
0345505218
-
Nonhomologous end joining and V(D)J recombination require an additional factor
-
DOI 10.1073/pnas.0437964100
-
Dai Y, Kysela B, Hanakahi LA et al. Nonhomologous end joining and V(D)J recombination require an additional factor. Proc Natl Acad Sci USA 2003; 100:2462-2467. (Pubitemid 36297521)
-
(2003)
Proceedings of the National Academy of Sciences of the United States of America
, vol.100
, Issue.5
, pp. 2462-2467
-
-
Dai, Y.1
Kysela, B.2
Hanakahi, L.A.3
Manolis, K.4
Riballo, E.5
Stumm, M.6
Harville, T.O.7
West, S.C.8
Oettinger, M.A.9
Jeggo, P.A.10
-
75
-
-
79959568382
-
Unrelated hematopoietic stem cell transplantation for Cernunnos-XLF deficiency
-
Epub ahead of print
-
Faraci M, Lanino E, Micalizzi C et al. Unrelated hematopoietic stem cell transplantation for Cernunnos-XLF deficiency. Pediatr Transplant 2008. [Epub ahead of print].
-
(2008)
Pediatr Transplant
-
-
Faraci, M.1
Lanino, E.2
Micalizzi, C.3
-
76
-
-
84887212606
-
Impaired replication stress response in cells from immunodeficiency patients carrying Cernunnos/XLF mutations
-
Schwartz M, Oren YS, Bester AC et al. Impaired replication stress response in cells from immunodeficiency patients carrying Cernunnos/XLF mutations. PLoS One 2009; 4:e4516.
-
(2009)
PLoS One
, vol.4
-
-
Schwartz, M.1
Oren, Y.S.2
Bester, A.C.3
-
78
-
-
66749141144
-
Ataxia-telangiectasia patients presenting with hyper-IgM syndrome
-
Noordzij JG, Wulffraat NM, Haraldsson A et al. Ataxia-telangiectasia patients presenting with hyper-IgM syndrome. Arch Dis Child 2009; 94:448-449.
-
(2009)
Arch Dis Child
, vol.94
, pp. 448-449
-
-
Noordzij, J.G.1
Wulffraat, N.M.2
Haraldsson, A.3
-
79
-
-
0033913490
-
Oropharyngeal dysphagia and aspiration in patients with ataxia- telangiectasia
-
Lefton-Greif MA, Crawford TO, Winkelstein JA et al. Oropharyngeal dysphagia and aspiration in patients with ataxia-telangiectasia. J Pediatr 2000; 136:225-231. (Pubitemid 30470995)
-
(2000)
Journal of Pediatrics
, vol.136
, Issue.2
, pp. 225-231
-
-
Lefton-Greif, M.A.1
Crawford, T.O.2
Winkelstein, J.A.3
Loughlin, G.M.4
Koerner, C.B.5
Zahurak, M.6
Lederman, H.M.7
-
80
-
-
47249163337
-
Immunodeficiency in ataxia telangiectasia is correlated strongly with the presence of two null mutations in the ataxia telangiectasia mutated gene
-
DOI 10.1111/j.1365-2249.2008.03684.x
-
Staples ER, McDermott EM, Reiman A et al. Immunodeficiency in ataxia telangiectasia is correlated strongly with the presence of two null mutations in the ataxia telangiectasia mutated gene. Clin Exp Immunol 2008; 153:214-220. (Pubitemid 351989158)
-
(2008)
Clinical and Experimental Immunology
, vol.153
, Issue.2
, pp. 214-220
-
-
Staples, E.R.1
McDermott, E.M.2
Reiman, A.3
Byrd, P.J.4
Ritchie, S.5
Taylor, A.M.R.6
Davies, E.G.7
-
81
-
-
0032834595
-
Impaired IgG antibody production to pneumococcal polysaccharides in patients with ataxia-telangiectasia
-
DOI 10.1023/A:1020599810261
-
Sanal O, Ersoy F, Yel L et al. Impaired IgG antibody production to pneumococcal polysaccharides in patients with ataxia-telangiectasia. J Clin Immunol 1999; 19:326-334. (Pubitemid 29489399)
-
(1999)
Journal of Clinical Immunology
, vol.19
, Issue.5
, pp. 326-334
-
-
Sanal, O.1
Ersoy, F.2
Yel, L.3
Tezcan, I.4
Metin, A.5
Ozyurek, H.6
Gariboglu, S.7
Fikrig, S.8
Berkel, A.I.9
Rijkers, G.T.10
Zegers, B.J.M.11
-
82
-
-
0034976214
-
Lymphocytic interstitial pneumonitis, elevated IgM concentration, and hepatosplenomegaly in ataxia-telangiectasia
-
DOI 10.1067/mpd.2001.113356
-
Tangsinmankong N, Wayne AS, Howenstine M et al. Lymphocytic interstitial pneumonitis, elevated IgM concentration and hepatosplenomegaly in ataxia-telangiectasia. J Pediatr 2001; 138:939-941. (Pubitemid 32545608)
-
(2001)
Journal of Pediatrics
, vol.138
, Issue.6
, pp. 939-941
-
-
Tangsinmankong, N.1
Wayne, A.S.2
Howenstine, M.S.3
Washington, K.R.4
Langston, C.5
Gatti, R.A.6
Good, R.A.7
Nelson Jr., R.P.8
-
84
-
-
33745775397
-
Survival probability in ataxia telangiectasia
-
DOI 10.1136/adc.2006.094268
-
Crawford TO, Skolasky RL, Fernandez R et al. Survival probability in ataxia telangiectasia. Arch Dis Child 2006; 91:610-611. (Pubitemid 44023364)
-
(2006)
Archives of Disease in Childhood
, vol.91
, Issue.7
, pp. 610-611
-
-
Crawford, T.O.1
Skolasky, R.L.2
Fernandez, R.3
Rosquist, K.J.4
Lederman, H.M.5
-
85
-
-
0036891869
-
Skewed T-cell receptor repertoire, decreased thymic output, and predominance of terminally differentiated T cells in ataxia telangiectasia
-
DOI 10.1182/blood-2002-03-0976
-
Giovannetti A, Mazzetta F, Caprini E et al. Skewed T-cell receptor repertoire, decreased thymic output and predominance of terminally differentiated T-cells in ataxia telangiectasia. Blood 2002; 100:4082-4089. (Pubitemid 35396876)
-
(2002)
Blood
, vol.100
, Issue.12
, pp. 4082-4089
-
-
Giovannetti, A.1
Mazzetta, F.2
Caprini, E.3
Aiuti, A.4
Marziali, M.5
Pierdominici, M.6
Cossarizza, A.7
Chessa, L.8
Scala, E.9
Quinti, I.10
Russo, G.11
Fiorilli, M.12
-
88
-
-
3242892589
-
Nijmegen breakage syndrome: Clinical manifestation of defective response to DNA double-strand breaks
-
DOI 10.1016/j.dnarep.2004.03.004, PII S1568786404000631
-
Digweed M, Sperling K. Nijmegen breakage syndrome: Clinical manifestation of defective response to DNA double-strand breaks. DNA Repair (Amst) 2004; 3:1207-1217. (Pubitemid 38997964)
-
(2004)
DNA Repair
, vol.3
, Issue.8-9
, pp. 1207-1217
-
-
Digweed, M.1
Sperling, K.2
-
89
-
-
0036404927
-
Heterogeneity of humoral immune abnormalities in children with Nijmegen breakage syndrome: An 8-year follow-up study in a single centre
-
DOI 10.1046/j.1365-2249.2002.01971.x
-
Gregorek H, Chrzanowska KH, Michalkiewicz J et al. Heterogeneity of humoral immune abnormalities in children with Nijmegen breakage syndrome: An 8-year follow-up study in a single centre. Clin Exp Immunol 2002; 130:319-324. (Pubitemid 35286221)
-
(2002)
Clinical and Experimental Immunology
, vol.130
, Issue.2
, pp. 319-324
-
-
Gregorek, H.1
Chrzanowska, K.H.2
Michalkiewicz, J.3
Syczewska, M.4
Madalinski, K.5
-
90
-
-
0033500811
-
ATM in lymphoid development and tumorigenesis
-
Xu Y. ATM in lymphoid development and tumorigenesis. Adv Immunol 1999; 72:179-189. (Pubitemid 30224826)
-
(1999)
Advances in Immunology
, vol.72
, pp. 179-189
-
-
Xu, Y.1
-
91
-
-
13444281917
-
Nibrin functions in Ig class-switch recombination
-
DOI 10.1073/pnas.0409191102
-
Kracker S, Bergmann Y, Demuth I et al. Nibrin functions in Ig class-switch recombination. Proc Natl Acad Sci USA 2005; 102:1584-1589. (Pubitemid 40209211)
-
(2005)
Proceedings of the National Academy of Sciences of the United States of America
, vol.102
, Issue.5
, pp. 1584-1589
-
-
Kracker, S.1
Bergmann, Y.2
Demuth, I.3
Frappart, P.-O.4
Hildebrand, G.5
Christine, R.6
Wang, Z.-Q.7
Sperling, K.8
Digweed, M.9
Radbruch, A.10
-
92
-
-
13444309097
-
Genomic instability, endoreduplication, and diminished Ig class-switch recombination in B cells lacking Nbs1
-
DOI 10.1073/pnas.0406289102
-
Reina-San-Martin B, Nussenzweig MC, Nussenzweig A et al. Genomic instability, endoreduplication and diminished Ig class-switch recombination in B-cells lacking Nbs1. Proc Natl Acad Sci USA 2005; 102:1590-1595. (Pubitemid 40209212)
-
(2005)
Proceedings of the National Academy of Sciences of the United States of America
, vol.102
, Issue.5
, pp. 1590-1595
-
-
Reina-San-Martin, B.1
Nussenzweig, M.C.2
Nussenzweig, A.3
Difilippantonio, S.4
-
93
-
-
60449106390
-
Nijmegen breakage syndrome associated with porokeratosis
-
Wolf EK, Shwayder TA. Nijmegen breakage syndrome associated with porokeratosis. Pediatr Dermatol 2009; 26:106-8.
-
(2009)
Pediatr Dermatol
, vol.26
, pp. 106-8
-
-
Wolf, E.K.1
Shwayder, T.A.2
-
94
-
-
41149120703
-
Cutaneous noncaseating granulomas associated with Nijmegen breakage syndrome
-
DOI 10.1001/archderm.144.3.418
-
Yoo J, Wolgamot G, Torgerson TR et al. Cutaneous noncaseating granulomas associated with Nijmegen breakage syndrome. Arch Dermatol 2008; 144:418-419. (Pubitemid 351439136)
-
(2008)
Archives of Dermatology
, vol.144
, Issue.3
, pp. 418-419
-
-
Yoo, J.1
Wolgamot, G.2
Torgerson, T.R.3
Sidbury, R.4
-
97
-
-
4644221353
-
The clinical and biological overlap between Nijmegen Breakage Syndrome and Fanconi anemia
-
DOI 10.1016/j.clim.2004.03.024, PII S1521661604002220
-
Gennery AR, Slatter MA, Bhattacharya A et al. The clinical and biological overlap between Nijmegen Breakage Syndrome and Fanconi anemia. Clin Immunol 2004; 113:214-219. (Pubitemid 39296855)
-
(2004)
Clinical Immunology
, vol.113
, Issue.2
, pp. 214-219
-
-
Gennery, A.R.1
Slatter, M.A.2
Bhattacharya, A.3
Barge, D.4
Haigh, S.5
O'Driscoll, M.6
Coleman, R.7
Abinun, M.8
Flood, T.J.9
Cant, A.J.10
Jeggo, P.A.11
-
98
-
-
0033544724
-
The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder
-
Stewart GS, Maser RS, Stankovic T et al. The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder. Cell 1999; 99:577-587. (Pubitemid 30004634)
-
(1999)
Cell
, vol.99
, Issue.6
, pp. 577-587
-
-
Stewart, G.S.1
Maser, R.S.2
Stankovic, T.3
Bressan, D.A.4
Kaplan, M.I.5
Jaspers, N.G.J.6
Raams, A.7
Byrd, P.J.8
Petrini, J.H.J.9
Taylor, A.M.R.10
-
99
-
-
5744246254
-
MRE11 mutations and impaired ATM-dependent responses in an Italian family with ataxia-telangiectasia-like disorder
-
DOI 10.1093/hmg/ddh221
-
Delia D, Piane M, Buscemi G et al. MRE11 mutations and impaired ATM-dependent responses in an Italian family with ataxia-telangiectasia-like disorder. Hum Mol Genet 2004; 13:2155-2163. (Pubitemid 39377837)
-
(2004)
Human Molecular Genetics
, vol.13
, Issue.18
, pp. 2155-2163
-
-
Delia, D.1
Paine, M.2
Buscemi, G.3
Savio, C.4
Palmeri, S.5
Lulli, P.6
Carlessi, L.7
Fontanella, E.8
Chessa, L.9
-
100
-
-
12744273401
-
Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder
-
Fernet M, Gribaa M, Salih MA et al. Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder. Hum Mol Genet 2005; 14:307-318.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 307-318
-
-
Fernet, M.1
Gribaa, M.2
Salih, M.A.3
-
101
-
-
41949124251
-
Ophthalmic features of ataxia telangiectasia-like disorder
-
Khan AO, Oystreck DT, Koenig M et al. Ophthalmic features of ataxia telangiectasia-like disorder. J AAPOS 2008; 12:186-189.
-
(2008)
J AAPOS
, vol.12
, pp. 186-189
-
-
Khan, A.O.1
Oystreck, D.T.2
Koenig, M.3
-
102
-
-
3242889151
-
Ataxia-telangiectasia-like disorder (ATLD) - Its clinical presentation and molecular basis
-
DOI 10.1016/j.dnarep.2004.04.009, PII S1568786404001405
-
Taylor AM, Groom A, Byrd PJ. Ataxia-telangiectasia-like disorder (ATLD)-its clinical presentation and molecular basis. DNA Repair (Amst) 2004; 3:1219-1225. (Pubitemid 38997965)
-
(2004)
DNA Repair
, vol.3
, Issue.8-9
, pp. 1219-1225
-
-
Taylor, A.M.R.1
Groom, A.2
Byrd, P.J.3
-
104
-
-
65149095154
-
Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder
-
Waltes R, Kalb R, Gatei M et al. Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder. Am J Hum Genet 2009; 84:605-616.
-
(2009)
Am J Hum Genet
, vol.84
, pp. 605-616
-
-
Waltes, R.1
Kalb, R.2
Gatei, M.3
-
105
-
-
0025874254
-
Chromosome instability and X-ray hypersensitivity in a microcephalic and growth-retarded child
-
Barbi G, Scheres JM, Schindler D et al. Chromosome instability and X-ray hypersensitivity in a microcephalic and growth-retarded child. Am J Med Genet 1991; 40:44-45.
-
(1991)
Am J Med Genet
, vol.40
, pp. 44-45
-
-
Barbi, G.1
Scheres, J.M.2
Schindler, D.3
-
106
-
-
34250200743
-
Defective Signal Joint Recombination in Fanconi Anemia Fibroblasts Reveals a Role for Rad50 in V(D)J Recombination
-
DOI 10.1016/j.jmb.2007.03.014, PII S0022283607003270
-
Donahue SL, Tabah AA, Schmitz K et al. Defective signal joint recombination in fanconi anemia fibroblasts reveals a role for Rad50 in V(D)J recombination. J Mol Biol 2007; 370:449-458. (Pubitemid 46901069)
-
(2007)
Journal of Molecular Biology
, vol.370
, Issue.3
, pp. 449-458
-
-
Donahue, S.L.1
Tabah, A.A.2
Schmitz, K.3
Aaron, A.4
Campbell, C.5
-
107
-
-
36749029369
-
RIDDLE immunodeficiency syndrome is linked to defects in 53BP1-mediated DNA damage signaling
-
DOI 10.1073/pnas.0708408104
-
Stewart GS, Stankovic T, Byrd PJ et al. RIDDLE immunodeficiency syndrome is linked to defects in 53BP1-mediated DNA damage signaling. Proc Natl Acad Sci USA 2007; 104:16910-16915. (Pubitemid 350210964)
-
(2007)
Proceedings of the National Academy of Sciences of the United States of America
, vol.104
, Issue.43
, pp. 16910-16915
-
-
Stewart, G.S.1
Stankovic, T.2
Byrd, P.J.3
Wechsler, T.4
Miller, E.S.5
Huissoon, A.6
Drayson, M.T.7
West, S.C.8
Elledge, S.J.9
Taylor, A.M.R.10
-
108
-
-
59049103900
-
The RIDDLE syndrome protein mediates a ubiquitin-dependent signaling cascade at sites of DNA damage
-
Stewart GS, Panier S, Townsend K et al. The RIDDLE syndrome protein mediates a ubiquitin-dependent signaling cascade at sites of DNA damage. Cell 2009; 136:420-434.
-
(2009)
Cell
, vol.136
, pp. 420-434
-
-
Stewart, G.S.1
Panier, S.2
Townsend, K.3
-
109
-
-
57049124828
-
53BP1 facilitates long-range DNA end-joining during V(D)J recombination
-
DOI 10.1038/nature07476, PII NATURE07476
-
Difilippantonio S, Gapud E, Wong N et al. 53BP1 facilitates long-range DNA end-joining during V(D)J recombination. Nature 2008; 456:529-533. (Pubitemid 50304846)
-
(2008)
Nature
, vol.456
, Issue.7221
, pp. 529-533
-
-
Difilippantonio, S.1
Gapud, E.2
Wong, N.3
Huang, C.-Y.4
Mahowald, G.5
Chen, H.T.6
Kruhlak, M.J.7
Callen, E.8
Livak, F.9
Nussenzweig, M.C.10
Sleckman, B.P.11
Nussenzweig, A.12
-
110
-
-
2442707746
-
53BP1 links DNA damage-response pathways to immunoglobulin heavy chain class-switch recombination
-
DOI 10.1038/ni1067
-
Manis JP, Morales JC, Xia Z et al. 53BP1 links DNA damage-response pathways to immunoglobulin heavy chain class-switch recombination. Nat Immunol 2004; 5:481-487. (Pubitemid 38660459)
-
(2004)
Nature Immunology
, vol.5
, Issue.5
, pp. 481-487
-
-
Manis, J.P.1
Morales, J.C.2
Xia, Z.3
Kutok, J.L.4
Alt, F.W.5
Carpenter, P.B.6
-
111
-
-
2542463148
-
53BP1 is required for class switch recombination
-
DOI 10.1083/jcb.200403021
-
Ward IM, Reina-San-Martin B, Olaru A et al. 53BP1 is required for class switch recombination. J Cell Biol 2004; 165:459-464. (Pubitemid 38679611)
-
(2004)
Journal of Cell Biology
, vol.165
, Issue.4
, pp. 459-464
-
-
Ward, I.M.1
Reina-San-Martin, B.2
Olaru, A.3
Minn, K.4
Tamada, K.5
Lau, J.S.6
Cascalho, M.7
Chen, L.8
Nussenzweig, A.9
Livak, F.10
Nussenzweig, M.C.11
Chen, J.12
-
112
-
-
34248579517
-
A case report of a patient with microcephaly, facial dysmorphism, chromosomal radiosensitivity and telomere length alterations closely resembling "Nijmegen breakage syndrome" phenotype
-
DOI 10.1016/j.ejmg.2007.01.006, PII S1769721207000158
-
Berardinelli F, di Masi A, Salvatore M et al. A case report of a patient with microcephaly, facial dysmorphism, chromosomal radiosensitivity and telomere length alterations closely resembling "Nijmegen breakage syndrome" phenotype. Eur J Med Genet 2007; 50:176-187. (Pubitemid 46765252)
-
(2007)
European Journal of Medical Genetics
, vol.50
, Issue.3
, pp. 176-187
-
-
Berardinelli, F.1
Di Masi, A.2
Salvatore, M.3
Banerjee, S.4
Myung, K.5
De Villartay, J.P.6
Revy, P.7
Plebani, A.8
Soresina, A.9
Taruscio, D.10
Tanzarella, C.11
Antoccia, A.12
-
113
-
-
10744220236
-
Genetic heterogeneity for a Nijmegen breakage-like syndrome
-
DOI 10.1034/j.1399-0004.2003.00054.x
-
Maraschio P, Spadoni E, Tanzarella C et al. Genetic heterogeneity for a Nijmegen breakage-like syndrome. Clin Genet 2003; 63:283-290. (Pubitemid 36949934)
-
(2003)
Clinical Genetics
, vol.63
, Issue.4
, pp. 283-290
-
-
Maraschio, P.1
Spadoni, E.2
Tanzarella, C.3
Antoccia, A.4
Di Masi, A.5
Maghnie, M.6
Varon, R.7
Demuth, I.8
Tiepolo, L.9
Danesino, C.10
-
114
-
-
0035374871
-
Nijmegen breakage syndrome in a Dutch patient not resulting from a defect in NBS1
-
Hiel JA, Weemaes CM, van Engelen BG et al. Nijmegen breakage syndrome in a Dutch patient not resulting from a defect in NBS1. J Med Genet 2001; 38:E19.
-
(2001)
J Med Genet
, vol.38
-
-
Hiel, J.A.1
Weemaes, C.M.2
Van Engelen, B.G.3
-
115
-
-
0034264851
-
Activation-Induced cytidine Deaminase (AID) deficiency causes the autosomal recessive form of Hyper-IgM syndrome (HIGM2)
-
Revy P, Muto T, Levy Y et al. Activation-Induced cytidine Deaminase (AID) deficiency causes the autosomal recessive form of Hyper-IgM syndrome (HIGM2). Cell 2000; 102:565-575.
-
(2000)
Cell
, vol.102
, pp. 565-575
-
-
Revy, P.1
Muto, T.2
Levy, Y.3
-
116
-
-
10744226125
-
Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to Activation-Induced Cytidine Deaminase deficiency
-
DOI 10.1016/j.clim.2003.10.007
-
Quartier P, Bustamante J, Sanal O et al. Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to Activation-Induced Cytidine Deaminase deficiency. Clin Immunol 2004; 110:22-29. (Pubitemid 38177417)
-
(2004)
Clinical Immunology
, vol.110
, Issue.1
, pp. 22-29
-
-
Quartier, P.1
Bustamante, J.2
Sanal, O.3
Plebani, A.4
Debre, M.5
Deville, A.6
Litzman, J.7
Levy, J.8
Fermand, J.-P.9
Lane, P.10
Horneff, G.11
Aksu, G.12
Yalcin, I.13
Davies, G.14
Tezcan, I.15
Ersoy, F.16
Catalan, N.17
Imai, K.18
Fischer, A.19
Durandy, A.20
more..
-
117
-
-
0033669973
-
Mutations in activation-induced cytidine deaminase in patients with hyper IgM syndrome
-
Minegishi Y, Lavoie A, Cunningham-Rundles C et al. Mutations in activation-induced cytidine deaminase in patients with hyper IgM syndrome. Clin Immunol 2000; 97:203-210.
-
(2000)
Clin Immunol
, vol.97
, pp. 203-210
-
-
Minegishi, Y.1
Lavoie, A.2
Cunningham-Rundles, C.3
-
118
-
-
51849125587
-
Activation-induced cytidine deaminase deficiency causes organ-specific autoimmune disease
-
Hase K, Takahashi D, Ebisawa M et al. Activation-induced cytidine deaminase deficiency causes organ-specific autoimmune disease. PLoS One 2008; 3:e3033.
-
(2008)
PLoS One
, vol.3
-
-
Hase, K.1
Takahashi, D.2
Ebisawa, M.3
-
119
-
-
0041381361
-
AID mutant analyses indicate requirement for class-switch-specific cofactors
-
DOI 10.1038/ni964
-
Ta VT, Nagaoka H, Catalan N et al. AID mutant analyses indicate requirement for class-switch-specific cofactors. Nat Immunol 2003; 4:843-848. (Pubitemid 37098654)
-
(2003)
Nature Immunology
, vol.4
, Issue.9
, pp. 843-848
-
-
Ta, V.-T.1
Nagaoka, H.2
Catalan, N.3
Durandy, A.4
Fischer, A.5
Imai, K.6
Nonoyama, S.7
Tashiro, J.8
Ikegawa, M.9
Ito, S.10
Kinoshita, K.11
Muramatsu, M.12
Honjo, T.13
-
120
-
-
19044396637
-
Analysis of class switch recombination and somatic hypermutation in patients affected with autosomal dominant hyper-IgM syndrome type 2
-
DOI 10.1016/j.clim.2005.02.003, PII S1521661605000410
-
Imai K, Zhu Y, Revy P et al. Analysis of class switch recombination and somatic hypermutation in patients affected with autosomal dominant hyper-IgM syndrome type 2. Clin Immunol 2005; 115:277-285. (Pubitemid 40712323)
-
(2005)
Clinical Immunology
, vol.115
, Issue.3
, pp. 277-285
-
-
Imai, K.1
Zhu, Y.2
Revy, P.3
Morio, T.4
Mizutani, S.5
Fischer, A.6
Nonoyama, S.7
Durandy, A.8
-
121
-
-
0142092610
-
Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination
-
DOI 10.1038/ni974
-
Imai K, Slupphaug G, Lee WI et al. Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination. Nat Immunol 2003; 4:1023-1028. (Pubitemid 37265924)
-
(2003)
Nature Immunology
, vol.4
, Issue.10
, pp. 1023-1028
-
-
Imai, K.1
Slupphaug, G.2
Lee, W.-I.3
Revy, P.4
Nonoyama, S.5
Catalan, N.6
Yel, L.7
Forveille, M.8
Kavli, B.9
Krokan, H.E.10
Ochs, H.D.11
Fischer, A.12
Durandy, A.13
-
122
-
-
33644750452
-
PMS2 mutations in childhood cancer
-
DOI 10.1093/jnci/djj073
-
De Vos M, Hayward BE, Charlton R et al. PMS2 mutations in childhood cancer. J Natl Cancer Inst 2006; 98:358-361. (Pubitemid 43338216)
-
(2006)
Journal of the National Cancer Institute
, vol.98
, Issue.5
, pp. 358-361
-
-
De Vos, M.1
Hayward, B.E.2
Charlton, R.3
Taylor, G.R.4
Glaser, A.W.5
Picton, S.6
Cole, T.R.7
Maher, E.R.8
McKeown, C.M.E.9
Mann, J.R.10
Yates, J.R.11
Baralle, D.12
Rankin, J.13
Bonthron, D.T.14
Sheridan, E.15
-
123
-
-
43749118398
-
Childhood T-cell non-Hodgkin's lymphoma, colorectal carcinoma and brain tumor in association with café-au-lait spots caused by a novel homozygous PMS2 mutation
-
DOI 10.1038/sj.leu.2405008, PII 2405008
-
Kratz CP, Niemeyer CM, Jüttner E et al. Childhood T-cell non-Hodgkin's lymphoma, colorectal carcinoma and brain tumor in association with café-au-lait spots caused by a novel homozygous PMS2 mutation. Leukemia 2008; 22:1078-1080. (Pubitemid 351689897)
-
(2008)
Leukemia
, vol.22
, Issue.5
, pp. 1078-1080
-
-
Kratz, C.P.1
Niemeyer, C.M.2
Juttner, E.3
Kartal, M.4
Weninger, A.5
Schmitt-Graeff, A.6
Kontny, U.7
Lauten, M.8
Utzolino, S.9
Radecke, J.10
Fonatsch, C.11
Wimmer, K.12
-
124
-
-
85047693702
-
Hyper-IgM syndrome type 4 with a B lymphocyte-intrinsic selective deficiency in Ig class-switch recombination
-
DOI 10.1172/JCI200318161
-
Imai K, Catalan N, Plebani A et al. Hyper-IgM syndrome type 4 with a B-lymphocyte-intrinsic selective deficiency in Ig class-switch recombination. J Clin Invest 2003; 112:136-142. (Pubitemid 38056385)
-
(2003)
Journal of Clinical Investigation
, vol.112
, Issue.1
, pp. 136-142
-
-
Imai, K.1
Catalan, N.2
Plebani, A.3
Marodi, L.4
Sanal, O.5
Kumaki, S.6
Nagendran, V.7
Wood, P.8
Glastre, C.9
Sarrot-Reynauld, F.10
Hermine, O.11
Forveille, M.12
Revy, P.13
Fischer, A.14
Durandy, A.15
-
125
-
-
34249058024
-
A primary immunodeficiency characterized by defective immunoglobulin class switch recombination and impaired DNA repair
-
DOI 10.1084/jem.20070087
-
Péron S, Pan-Hammarström Q, Imai K et al. A primary immunodeficiency characterized by defective immunoglobulin class switch recombination and impaired DNA repair. J Exp Med 2007; 204:1207-1216. (Pubitemid 46798162)
-
(2007)
Journal of Experimental Medicine
, vol.204
, Issue.5
, pp. 1207-1216
-
-
Peron, S.1
Pan-Hammarstrom, Q.2
Imai, K.3
Du, L.4
Taubenheim, N.5
Sanal, O.6
Marodi, L.7
Bergelin-Besancon, A.8
Benkerrou, M.9
De Villartay, J.-P.10
Fischer, A.11
Revy, P.12
Durandy, A.13
-
126
-
-
60049097624
-
Immunoglobulin class switch recombination: Study through human natural mutants
-
Durandy A. Immunoglobulin class switch recombination: Study through human natural mutants. Philos Trans R Soc Lond B Biol Sci 2009; 364:577-582.
-
(2009)
Philos Trans R Soc Lond B Biol Sci
, vol.364
, pp. 577-582
-
-
Durandy, A.1
-
127
-
-
0026772876
-
Growth retardation and immunodeficiency in a patient with mutations in the DNA ligase I gene
-
Webster AD, Barnes DE, Arlett CF et al. Growth retardation and immunodeficiency in a patient with mutations in the DNA ligase I gene. Lancet 1992; 339:1508-1509.
-
(1992)
Lancet
, vol.339
, pp. 1508-1509
-
-
Webster, A.D.1
Barnes, D.E.2
Arlett, C.F.3
-
128
-
-
0026680743
-
Mutations in the DNA ligase I gene of an individual with immunodeficiencies and cellular hypersensitivity to DNA-damaging agents
-
Barnes DE, Tomkinson AE, Lehmann AR et al. Mutations in the DNA ligase I gene of an individual with immunodeficiencies and cellular hypersensitivity to DNA-damaging agents. Cell 1992; 69:495-503.
-
(1992)
Cell
, vol.69
, pp. 495-503
-
-
Barnes, D.E.1
Tomkinson, A.E.2
Lehmann, A.R.3
-
129
-
-
64649088010
-
DNA ligase I deficiency leads to replication-dependent DNA damage and impacts cell morphology without blocking cell cycle progression
-
Soza S, Leva V, Vago R et al. DNA ligase I deficiency leads to replication-dependent DNA damage and impacts cell morphology without blocking cell cycle progression. Mol Cell Biol 2009; 29:2032-2041.
-
(2009)
Mol Cell Biol
, vol.29
, pp. 2032-2041
-
-
Soza, S.1
Leva, V.2
Vago, R.3
-
130
-
-
0027953084
-
Normal V(D)J coding junction formation in DNA ligase I deficiency syndromes
-
Petrini JH, Donovan JW, Dimare C et al. Normal V(D)J coding junction formation in DNA ligase I deficiency syndromes. J Immunol 1994; 152:176-178.
-
(1994)
J Immunol
, vol.152
, pp. 176-178
-
-
Petrini, J.H.1
Donovan, J.W.2
Dimare, C.3
-
131
-
-
69249203785
-
DNA ligase I and Nbs1 proteins associate in a complex and colocalize at replication factories
-
[Epub ahead of print]
-
Vago R, Leva V, Biamonti G et al. DNA ligase I and Nbs1 proteins associate in a complex and colocalize at replication factories. Cell Cycle 2009; 8(16). [Epub ahead of print].
-
(2009)
Cell Cycle
, vol.8
, pp. 16
-
-
Vago, R.1
Leva, V.2
Biamonti, G.3
-
132
-
-
0016691790
-
Abnormal immune responses of Bloom's syndrome lymphocytes in vitro
-
Hütteroth TH, Litwin SD, German J. Abnormal immune responses of Bloom's syndrome lymphocytes in vitro. J Clin Invest 1975; 56:1-7.
-
(1975)
J Clin Invest
, vol.56
, pp. 1-7
-
-
Hütteroth, T.H.1
Litwin, S.D.2
German, J.3
-
133
-
-
0023735129
-
Bloom's syndrome. Clinical features and immunologic abnormalities of four patients
-
Van Kerckhove CW, Ceuppens JL, Vanderschueren-Lodeweyckx M et al. Bloom's syndrome. Clinical features and immunologic abnormalities of four patients. Am J Dis Child 1988; 142:1089-1093.
-
(1988)
Am J Dis Child
, vol.142
, pp. 1089-1093
-
-
Van Kerckhove, C.W.1
Ceuppens, J.L.2
Vanderschueren-Lodeweyckx, M.3
-
134
-
-
0028831333
-
Bloom's syndrome
-
German J. Bloom's syndrome. Dermatol Clin 1995; 13:7-18.
-
(1995)
Dermatol Clin
, vol.13
, pp. 7-18
-
-
German, J.1
-
135
-
-
0026544716
-
Reduced secreted mu mRNA synthesis in selective IgM deficiency of Bloom's syndrome
-
Kondo N, Ozawa T, Kato Y et al. Reduced secreted mu mRNA synthesis in selective IgM deficiency of Bloom's syndrome. Clin Exp Immunol 1992; 88:35-40.
-
(1992)
Clin Exp Immunol
, vol.88
, pp. 35-40
-
-
Kondo, N.1
Ozawa, T.2
Kato, Y.3
-
136
-
-
0020063186
-
Impaired B-cell differentiation and T-cell regulatory function in four patients with Bloom's syndrome
-
Taniguchi N, Mukai M, Nagaoki T et al. Impaired B-cell differentiation and T-cell regulatory function in four patients with Bloom's syndrome. Clin Immunol Immunopathol 1982; 22:247-258. (Pubitemid 12223046)
-
(1982)
Clinical Immunology and Immunopathology
, vol.22
, Issue.2
, pp. 247-258
-
-
Taniguchi, N.1
Mukai, M.2
Nagaoki, T.3
-
137
-
-
0027304013
-
V(D)J recombination in ataxia telangiectasia, Bloom's syndrome, and a DNA ligase I-associated immunodeficiency disorder
-
Hsieh CL, Arlett CF, Lieber MR. V(D)J recombination in ataxia telangiectasia, Bloom's syndrome and a DNA ligase I-associated immunodeficiency disorder. J Biol Chem 1993; 268:20105-20109. (Pubitemid 23278908)
-
(1993)
Journal of Biological Chemistry
, vol.268
, Issue.27
, pp. 20105-20109
-
-
Hsieh, C.-L.1
Arlett, C.F.2
Lieber, M.R.3
-
138
-
-
33847236576
-
The Bloom's syndrome helicase is critical for development and function of the alphabeta T-cell lineage
-
Babbe H, Chester N, Leder P et al. The Bloom's syndrome helicase is critical for development and function of the alphabeta T-cell lineage. Mol Cell Biol 2007; 27:1947-1959.
-
(2007)
Mol Cell Biol
, vol.27
, pp. 1947-1959
-
-
Babbe, H.1
Chester, N.2
Leder, P.3
-
139
-
-
59849125952
-
Genomic instability resulting from Blm deficiency compromises development, maintenance and function of the B-cell lineage
-
Babbe H, McMenamin J, Hobeika E et al. Genomic instability resulting from Blm deficiency compromises development, maintenance and function of the B-cell lineage. J Immunol 2009; 182:347-360.
-
(2009)
J Immunol
, vol.182
, pp. 347-360
-
-
Babbe, H.1
McMenamin, J.2
Hobeika, E.3
-
140
-
-
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
-
141
-
-
70449664009
-
Successful Stem cell transplantation for Nijmegen breakage syndrome
-
in press
-
Albert MH, Gennery AR, Greil J et al. Successful Stem cell transplantation for Nijmegen breakage syndrome. Bone Marrow Transplant 2009 (in press).
-
(2009)
Bone Marrow Transplant
-
-
Albert, M.H.1
Gennery, A.R.2
Greil, J.3
-
142
-
-
59449104796
-
Non-Hodgkin lymphoma (NHL) in children with Nijmegen Breakage syndrome (NBS)
-
Dembowska-Baginska B, Perek D, Brozyna A et al. Non-Hodgkin lymphoma (NHL) in children with Nijmegen Breakage syndrome (NBS). Pediatr Blood Cancer 2009; 52:186-190.
-
(2009)
Pediatr Blood Cancer
, vol.52
, pp. 186-190
-
-
Dembowska-Baginska, B.1
Perek, D.2
Brozyna, A.3
-
143
-
-
48349132972
-
Stable and functional lymphoid reconstitution in artemis-deficient mice following lentiviral artemis gene transfer into hematopoietic stem cells
-
Benjelloun F, Garrigue A, Demerens-de Chappedelaine C et al. Stable and functional lymphoid reconstitution in artemis-deficient mice following lentiviral artemis gene transfer into hematopoietic stem cells. Mol Ther 2008; 16:1490-1499.
-
(2008)
Mol Ther
, vol.16
, pp. 1490-1499
-
-
Benjelloun, F.1
Garrigue, A.2
Demerens-De Chappedelaine, C.3
-
144
-
-
8144226267
-
Correction of ATM gene function by aminoglycoside-induced read-through of premature termination codons
-
DOI 10.1073/pnas.0405155101
-
Lai CH, Chun HH, Nahas SA et al. Correction of ATM gene function by aminoglycoside-induced read-through of premature termination codons. Proc Natl Acad Sci USA 2004; 101:15676-15681. (Pubitemid 39473547)
-
(2004)
Proceedings of the National Academy of Sciences of the United States of America
, vol.101
, Issue.44
, pp. 15676-15681
-
-
Lai, C.-H.1
Chun, H.H.2
Nahas, S.A.3
Mitui, M.4
Gamo, K.M.5
Du, L.6
Gatti, R.A.7
|