-
1
-
-
0020534965
-
Somatic generation of antibody diversity
-
Tonegawa S, Somatic generation of antibody diversity. Nature 1983;302(5909):575-81.
-
(1983)
Nature
, vol.302
, Issue.5909
, pp. 575-581
-
-
Tonegawa, S.1
-
2
-
-
0024846088
-
The V(D)J recombination activating gene, RAG-1
-
DOI 10.1016/0092-8674(89)90760-5
-
Schatz DG, Oettinger MA. Baltimore D. The V(D)J recombination activating gene. RAG-I. Cell 1989; 59(6) :1035-48. (Pubitemid 20024615)
-
(1989)
Cell
, vol.59
, Issue.6
, pp. 1035-1048
-
-
Schatz, D.G.1
Oettinger, M.A.2
Baltimore, D.3
-
3
-
-
0025301095
-
RAG-I and RAG-2. adjacent genes that synergistically activate V(D)J recombination
-
Oettinger MA, Schatz DG. Gorka C et al. RAG-I and RAG-2. adjacent genes that synergistically activate V(D)J recombination. Science 1990; 248(4962):1517-23 .
-
(1990)
Science
, vol.248
, Issue.4962
, pp. 1517-1523
-
-
Oettinger, M.A.1
Schatz, D.G.2
Gorka, C.3
-
4
-
-
13444301307
-
Mechanism and control of V(D)J recombination versus class switch recombination: Similarities and differences
-
Dudley DD, Chaudhuri J, Bassing CH et al. Mechanism and Control of V(D)J Recombination versus Class Switch Recombination: Similarities and Differences. Adv Immunol 2005; 8643-112.
-
(2005)
Adv Immunol
, pp. 8643-9112
-
-
Dudley, D.D.1
Chaudhuri, J.2
Bassing, C.H.3
-
5
-
-
0345865076
-
-
Fischer A. Human primary immunodeficiency diseases: a perspective. Nat Immunol 2004; 5(1):23-30.
-
(2004)
Nat Immunol
, vol.5
, Issue.1
, pp. 23-30
-
-
Fischer, A.1
-
6
-
-
0035161258
-
V(D)J recombination defects in lymphocytes due to RAG mutations: Severe immunodeficiency with a spectrum of clinical presentations
-
DOI 10.1182/blood.V97.1.81
-
Villa A, Sobacchi C. Notarangelo LD et al. V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinicaI presentations. Blood 2001; 97(1):81-8. (Pubitemid 32061245)
-
(2001)
Blood
, vol.97
, Issue.1
, pp. 81-88
-
-
Villa, A.1
Sobacchi, C.2
Notarangelo, L.D.3
Bozzi, F.4
Abinun, M.5
Abrahamsen, T.G.6
Arkwright, P.D.7
Baniyash, M.8
Brooks, E.G.9
Conley, M.E.10
Cortes, P.11
Duse, M.12
Fasth, A.13
Filipovich, A.M.14
Infante, A.J.15
Jones, A.16
Mazzolari, E.17
Muller, S.M.18
Pasic, S.19
Rechavi, G.20
Sacco, M.G.21
Santagata, S.22
Schroeder, M.L.23
Seger, R.24
Strina, D.25
Ugazio, A.26
Valiaho, J.27
Vihinen, M.28
Vogler, L.B.29
Ochs, H.30
Vezzoni, P.31
Friedrich, W.32
Schwarz, K.33
more..
-
7
-
-
0026581936
-
-
Shinkai Y, Rathbun G. LamKP et al. RAG-2-deficient mice lack mature lymphocytes owing to inability to initiate V(D)J rearrangement. Cell 1992; 68(5) :855-67.
-
(1992)
Cell
, vol.68
, Issue.5
, pp. 855-867
-
-
Shinkai, Y.1
Rathbun, G.2
Lam, K.P.3
-
8
-
-
0026585781
-
RAG-I-deficicnt mice have no mature B- and T-lymphocytes
-
Mombaerts P, Iacomini J.Johnson RS et al. RAG-I-deficicnt mice have no mature B- and T-lymphocytes. Cell 1992; 68(5) :869-77.
-
(1992)
Cell
, vol.68
, Issue.5
, pp. 869-877
-
-
Mombaerts, P.1
Iacomini, J.2
Johnson, R.S.3
-
9
-
-
0026047309
-
-
Schwarz K, Hansen-Hagge TE. Knobloch C et al. Severe combined immunodeficiency (SCI D) in man: Bvcell-negative (B-) SCID patients exhibit an irregular recombination pattern at the JH locus. J Exp Med 1991; 174(5) :1039-48.
-
(1991)
J Exp Med
, vol.174
, Issue.5
, pp. 1039-1048
-
-
Schwarz, K.1
Hansen-Hagge, T.E.2
Knobloch, C.3
-
10
-
-
0028357488
-
Evidence for defects in V(D)J rearrangements in patients with severe combined immunodeficiency
-
Abe T, Tsuge 1. Kamachi Y et al. Evidence for defects in V(D)J rearrangements in patients with severe combined immunodeficiency.J Immuno11994; 152(11) :5504-13. (Pubitemid 24153000)
-
(1994)
Journal of Immunology
, vol.152
, Issue.11
, pp. 5504-5513
-
-
Abe, T.-I.1
Tsuge, I.2
Kamachi, Y.3
Torii, S.4
Utsumi, K.5
Akahori, Y.6
Ichihara, Y.7
Kurosawa, Y.8
Matsuoka, H.9
-
11
-
-
10144253125
-
RAG mutations in human B-cell-negativeSCID
-
Schwarz K, Gauss GH. Ludwig L et al. RAG mutations in human B-cell-negativeSCID. Science 1996; 274(5284):97-9.
-
(1996)
Science
, vol.274
, Issue.5284
, pp. 97-99
-
-
Schwarz, K.1
Gauss, G.H.2
Ludwig, L.3
-
12
-
-
33750980124
-
RAG-dependent primary immunodeficiencies
-
DOI 10.1002/humu.20408
-
Sobacchi C, Marrella V, Rucci F et al. RAG-dependent primary immunodeficiencies. Hum Murat 2006; 27(12) :1174-84. (Pubitemid 44749719)
-
(2006)
Human Mutation
, vol.27
, Issue.12
, pp. 1174-1184
-
-
Sobacchi, C.1
Marrella, V.2
Rucci, F.3
Vezzoni, P.4
Villa, A.5
-
13
-
-
0000263266
-
Familial Reticuloendorhellosis with Eosinophilia
-
Omenn GS, Familial Reticuloendorhellosis with Eosinophilia. N Engl J Med 1965; 273:427-32.
-
(1965)
N Engl J Med
, vol.273
, pp. 427-432
-
-
Omenn, G.S.1
-
14
-
-
0025779736
-
Restricted heterogeneity of T-lymphocytes in combined immunodeficiency with hypereosinophilia (Omena's syndrome)
-
de Saint-Basile G. Le Deist F. de Villartay J P, et al. Restricted heterogeneity of T-lymphocytes in combined immunodeficiency with hypereosinophilia (Omena's syndrome). J Clin Invest 1991; 87(4) :1352-9.
-
(1991)
J Clin Invest
, vol.87
, Issue.4
, pp. 1352-1359
-
-
De Saint-Basile, G.1
Le Deist, F.2
De Villartay, J.P.3
-
15
-
-
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(5) :885-96. (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
-
16
-
-
0035353213
-
Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recornbinase activity can cause either T-B-severe combined immune deficiency or Omenn syndrome
-
Corneo B, Moshous D. Gungor T et al. Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recornbinase activity can cause either T-B-severe combined immune deficiency or Omenn syndrome. Blood 2001; 97(9) :2772-6.
-
(2001)
Blood
, vol.97
, Issue.9
, pp. 2772-2776
-
-
Corneo, B.1
Moshous, D.2
Gungor, T.3
-
17
-
-
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(11):4179-86. (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
-
18
-
-
33344456243
-
Omenn syndrome in an infant with IL7RA gene mutation
-
DOI 10.1016/j.jpeds.2005.10.004, PII S0022347605009856
-
Giliani S, Bonfim C. de Saint Basile G et al. Omenn syndrome in an infant with IL7RA gene mutation. J Pediatr 2006; 148(2):272-4. (Pubitemid 43286773)
-
(2006)
Journal of Pediatrics
, vol.148
, Issue.2
, pp. 272-274
-
-
Giliani, S.1
Bonfim, C.2
De Saint Basile, G.3
Lanzi, G.4
Brousse, N.5
Koliski, A.6
Malvezzi, M.7
Fischer, A.8
Notarangelo, L.D.9
Le Deist, F.10
-
19
-
-
33646075180
-
Mutations in the RNA component of RNase mitochondrial RNA processing might cause Omenn syndrome
-
Roifman CM, Gu Y. Cohen A. Mutations in the RNA component of RNase mitochondrial RNA processing might cause Omenn syndrome. J Allergy Clin Immunol 2006; 117(4) :897-903.
-
(2006)
J Allergy Clin Immunol
, vol.117
, Issue.4
, pp. 897-903
-
-
Roifman, C.M.1
Gu, Y.2
Cohen, A.3
-
20
-
-
11144356685
-
Complete DiGeorge syndrome: Development of rash, lymphadenopathy, and oligoclonal T cells in 5 cases
-
DOI 10.1016/j.jaci.2004.01.766
-
Markert ML, Alexieff MJ. Li J et al. Complete DiGeorge syndrome: development of rash. lymphadenopathy and oligoclonaI T-cells in 5 cases. J Allergy Clin Immunol2004; 113(4):734-41. (Pubitemid 38530431)
-
(2004)
Journal of Allergy and Clinical Immunology
, vol.113
, Issue.4
, pp. 734-741
-
-
Markert, M.L.1
Alexieff, M.J.2
Li, J.3
Sarzotti, M.4
Ozaki, D.A.5
Devlin, B.H.6
Sempowski, G.D.7
Rhein, M.E.8
Szabolcs, P.9
Hale, L.P.10
Buckley, R.H.11
Coyne, K.E.12
Rice, H.E.13
Mahaffey, S.M.14
Skinner, M.A.15
-
21
-
-
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(11):3140-8. (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
-
22
-
-
27644559049
-
A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection
-
DOI 10.1172/JCI25178
-
de Villartay JP. Lim A. AI-Mousa H et al. A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection.J Clin Invest 2005; 115(11):3291-9. (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
-
23
-
-
0027497719
-
T helper type 2-like cells and therapeutic effects of interferon-γ in combined immunodeficiency with hypereosinophilia (Omenn's syndrome)
-
DOI 10.1002/eji.1830230110
-
Schandene L, Ferster A. Mascart-Lemone F et al. T-helper type 2-like cells and therapeutic effects of interferon-gamma in combined immunodeficiency with hypereosinophilia (Omenns syndrome). Eur J Immunol 1993; 23(1) :56-60. (Pubitemid 23031895)
-
(1993)
European Journal of Immunology
, vol.23
, Issue.1
, pp. 56-60
-
-
Schandene, L.1
Ferster, A.2
Mascart-Lemone, F.3
Crusiaux, A.4
Gerard, C.5
Marchant, A.6
Lybin, M.7
Velu, T.8
Sariban, E.9
Goldman, M.10
-
24
-
-
20044376279
-
AIRE deficiency in thymus of 2 patients with Omenn syndrome
-
DOI 10.1172/JCI200523087
-
Cavadini P, Vermi W; Facchetti F et al. AIRE deficiency in thymus of2 patients with Omenn syndrome. J Clin Invest 2005; 115(3):728-32. (Pubitemid 40322248)
-
(2005)
Journal of Clinical Investigation
, vol.115
, Issue.3
, pp. 728-732
-
-
Cavadini, P.1
Vermi, W.2
Facchetti, F.3
Fontana, S.4
Nagafuchi, S.5
Mazzolari, E.6
Sediva, A.7
Marrella, V.8
Villa, A.9
Fischer, A.10
Notarangelo, L.D.11
Badolato, R.12
-
25
-
-
0037112047
-
Projection of an immunological self shadow within the thymus by the aire protein
-
DOI 10.1126/science.1075958
-
Anderson MS, Venanzi ES. Klein L et al. Projection of an immunologicaI self shadow within the thymus by the aire protein. Science 2002; 298(5597):1395-401. (Pubitemid 35346134)
-
(2002)
Science
, vol.298
, Issue.5597
, pp. 1395-1401
-
-
Anderson, M.S.1
Venanzi, E.S.2
Klein, L.3
Chen, Z.4
Berzins, S.P.5
Turley, S.J.6
Von Boehmer, H.7
Bronson, R.8
Dierich, A.9
Benoist, C.10
Mathis, D.11
-
26
-
-
34248229621
-
A hypomorphic R229Q Rag2 mouse mutant recapitulates human Omenn syndrome
-
DOI 10.1172/JCI30928
-
Marrella V, Poliani PL. Casati A et al. A hypomorphic R229Q Rag2 mouse mutant recapitulates human Omenn syndrome. J Clin Invest 2007; 117(5) :1260-9. (Pubitemid 46718414)
-
(2007)
Journal of Clinical Investigation
, vol.117
, Issue.5
, pp. 1260-1269
-
-
Marrella, V.1
Poliani, P.L.2
Casati, A.3
Rucci, F.4
Frascoli, L.5
Gougeon, M.-L.6
Lemercier, B.7
Bosticardo, M.8
Ravanini, M.9
Battaglia, M.10
Roncarolo, M.G.11
Cavazzana-Calvo, M.12
Facchetti, F.13
Notarangelo, L.D.14
Vezzoni, P.15
Grassi, F.16
Villa, A.17
-
27
-
-
79959431907
-
Lack of iNKT cells in patients with combined immune deficiency due to hypomorphic RAG mutat ions
-
epub ahead of print
-
Matangkasombut P, Pichavant M. Saez DE et al. Lack of iNKT cells in patients with combined immune deficiency due to hypomorphic RAG mutat ions. Blood 2007 [epub ahead of printJ
-
(2007)
Blood
-
-
Matangkasombut, P.1
Pichavant, M.2
Saez, D.E.3
-
28
-
-
34248176213
-
+ T cells are involved in the pathogenesis of an Omenn syndrome murine model
-
DOI 10.1172/JCI30513
-
Khiong K, Murakami M. Kitabayashi C et al. Homeostatically proliferating CD4 T-cells are involved in the pathogenesis of an Omenn syndrome murine model.J Clin Invest 2007; 117(5):1270-81. (Pubitemid 46718415)
-
(2007)
Journal of Clinical Investigation
, vol.117
, Issue.5
, pp. 1270-1281
-
-
Khiong, K.1
Murakami, M.2
Kitabayashi, C.3
Ueda, N.4
Sawa, S.-I.5
Sakamoto, A.6
Kotzin, B.L.7
Rozzo, S.J.8
Ishihara, K.9
Verella-Garcia, M.10
Kappler, J.11
Marrack, P.12
Hirano, T.13
-
29
-
-
33846287885
-
Lymphopenic mice reconstituted with limited repertoire T cells develop severe, multiorgan, Th2-associated inflammatory disease
-
DOI 10.1073/pnas.0610289104
-
Milner JD, Ward JM. Keane-Myers A et al. Lymphopenic mice reconstituted with limited repertoire T-cells develop severe. multiorgan, Th2-associated inflammatory disease. Proc Natl Acad Sci USA 2007; 104(2) :576-81. (Pubitemid 46123067)
-
(2007)
Proceedings of the National Academy of Sciences of the United States of America
, vol.104
, Issue.2
, pp. 576-581
-
-
Milner, J.D.1
Ward, J.M.2
Keane-Myers, A.3
Paul, W.E.4
-
30
-
-
35448987345
-
Repertoire-dependent immunopathology
-
DOI 10.1016/j.jaut.2007.07.019, PII S0896841107000856, Pathophysiology of Autoimmune Desease
-
Milner J, WardJ, Keane-Myers A et al. Repertoire-dependent immunopathology. J Autoimmun 2007; 29 (4):257-61. (Pubitemid 47633141)
-
(2007)
Journal of Autoimmunity
, vol.29
, Issue.4
, pp. 257-261
-
-
Milner, J.1
Ward, J.2
Keane-Myers, A.3
Min, B.4
Paul, W.E.5
-
31
-
-
0020663062
-
A severecombined immunodeficiency mutation in the mouse
-
Bosma GC, Custer RP,Bosma MJ. A severecombined immunodeficiency mutation in the mouse. Nature 1983; 301(5900):527-30.
-
(1983)
Nature
, vol.301
, Issue.5900
, pp. 527-530
-
-
Bosma, G.C.1
Custer, R.P.2
Bosma, M.J.3
-
32
-
-
0025011134
-
The scid mutation in mice causes a general defect in DNA repair
-
Fulop GM, Phillips RA. The scid mutation in mice causes a general defect in DNA repair. Nature 1990; 347479-482.
-
(1990)
Nature
, pp. 347479-34482
-
-
Fulop, G.M.1
Phillips, R.A.2
-
33
-
-
0026071588
-
Scid mutation in mice confers hypersensitivity to ionizing radiation and a deficiency in DNA double-strand break repair
-
Biedermann KA, Sum JR, Giaccia AJ et al. Scid mutation in mice confers hypersensitivity to ionizing radiation and a deficiency in DNA double-strand break repair. Proc Natl Acad Sci USA 1991; 88:1394-1397. (Pubitemid 21916230)
-
(1991)
Proceedings of the National Academy of Sciences of the United States of America
, vol.88
, Issue.4
, pp. 1394-1397
-
-
Biedermann, K.A.1
Sun, J.2
Giaccia, A.J.3
Tosto, L.M.4
Brown, J.M.5
-
34
-
-
0025778519
-
A link between double-strand break-related repair and V(D)J recombination: The scid mutation
-
Hendrickson EA, Qin XQ, Bump EA et al. A link between double-strand break related repair and V(D)J recombination: the scid mutation. Proc Natl Acad Sci USA 1991; 88:4061-4065. (Pubitemid 21914478)
-
(1991)
Proceedings of the National Academy of Sciences of the United States of America
, vol.88
, Issue.10
, pp. 4061-4065
-
-
Hendrickson, E.A.1
Qin, X.-Q.2
Bump, E.A.3
Schatz, D.G.4
Oettinger, M.5
Weaver, D.T.6
-
35
-
-
0023801238
-
The defect in murine severe combined immune deficiency: Joining of signal sequences but not coding segments in V(D)J recombination
-
Lieber MR, Hesse JE, Lewis S et al. The defect in murine severe combined immune deficiency: joining of signal sequences but not coding segments in V(D)J recombination. Cell 1988; 55(1):7-16.
-
(1988)
Cell
, vol.55
, Issue.1
, pp. 7-16
-
-
Lieber, M.R.1
Hesse, J.E.2
Lewis, S.3
-
36
-
-
0026792892
-
V(D)J recombination: Broken DNA moleculeswith covalently scaled (hairpin) coding ends in scid mouse thymocytes
-
Roth DB, MenetskiJP, Nakajima PB et al. V(D)J recombination: broken DNA moleculeswith covalently scaled (hairpin) coding ends in scid mouse thymocytes. Cell 1992; 70(6):983-91.
-
(1992)
Cell
, vol.70
, Issue.6
, pp. 983-991
-
-
Roth, D.B.1
Menetski, J.P.2
Nakajima, P.B.3
-
37
-
-
0027156278
-
Impairment of V(D)J recombination in double-strand break repair mutants
-
Taccioli GE, Rathbun G, Oltz E et al. Impairment of V(D)J recombination in double-strand break repair mutants. Science 1993; 260(5105):207-10. (Pubitemid 23140884)
-
(1993)
Science
, vol.260
, Issue.5105
, pp. 207-210
-
-
Taccioli, G.E.1
Rathbun, G.2
Oltz, E.3
Stamato, T.4
Jeggo, P.A.5
Alt, F.W.6
-
38
-
-
0027245559
-
V(D)J Recombination in mammalian cell mutants defective in DNA double- strand break repair
-
Pergola F, Zdzienicka MZ, Lieber MR. V(D)J recombination in mammalian cell mutants defective in DNA double-strand break repair. Mol Cell Bioi 1993; 13(6):3464-71. (Pubitemid 23157283)
-
(1993)
Molecular and Cellular Biology
, vol.13
, Issue.6
, pp. 3464-3471
-
-
Pergola, F.1
Zdzienicka, M.Z.2
Lieber, M.R.3
-
39
-
-
4544362838
-
The mechanism of non-homologous end-joining: A synopsis of synapsis
-
DOI 10.1016/j.dnarep.2004.06.003, PII S156878640400179X
-
Weterings E, van Gent DC. The mechanism of nonhomologous end-joinlng: a synopsis of synapsis. DNA Repair (ArnstJ 2004; 3(11):1425-35. (Pubitemid 39221740)
-
(2004)
DNA Repair
, vol.3
, Issue.11
, pp. 1425-1435
-
-
Weterings, E.1
Van Gent, D.C.2
-
40
-
-
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 recessiveSevere Combined Immunodeficiencj. 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
-
41
-
-
0034162828
-
A new gene involved in DNA double-strand break repair and V(D)J recombination is located on human chromosome 10p
-
Moshous D, Li L, de Chasseval Ret al. A new gene involved in DNA double-strand break repair and V(D)J recombination is located on human chromosome lOp. Hum Mol Genet 2000; 9(4):583-588. (Pubitemid 30154016)
-
(2000)
Human Molecular Genetics
, vol.9
, Issue.4
, pp. 583-588
-
-
Moshous, D.1
Li, L.2
De Chasseval, R.3
Philippe, N.4
Jabado, N.5
Cowan, M.J.6
Fischer, A.7
De Villartay, J.-P.8
-
42
-
-
0032541313
-
A human severe combined immunodeficiency (SCID) condition with increased sensitivity to ionizing radiations and impaired V(D)J rearrangements defines a new DNA recombination/repair deficiency
-
DOI 10.1084/jem.188.4.627
-
Nicolas N, Moshous D, Papadopoulo D et al. A human scmcondition with increased sensitivity to ionizing radiations and impaired V(D)J rearrangements defines a new DNA Recombination/Repair deficiencyJ Exp Med 1998; 188:627-634. (Pubitemid 28387926)
-
(1998)
Journal of Experimental Medicine
, vol.188
, Issue.4
, pp. 627-634
-
-
Nicolas, N.1
Moshous, D.2
Cavazzana-Calvo, M.3
Papadopoulo, D.4
De Chasseval, R.5
Le Deist, F.6
Fischer, A.7
De Villartay, J.-P.8
-
43
-
-
0029971123
-
Lack of detectable defect in DNA double-strand break repair and DNA-dependent protein kinase activity in radiosensitive human severe combined immunodeficiency fibroblasts
-
DOI 10.1002/eji.1830260524
-
Nicolas N, Finnic NJ, Cavazzana-Calvo M et al. Lack of detectable defect in DNA double-strand break repair and DNA-dependant protein kinase activity in radiosesitive human severe combined immunodeficiency fibroblasts. EurJ Immuno11996; 26:1118-1122. (Pubitemid 26158511)
-
(1996)
European Journal of Immunology
, vol.26
, Issue.5
, pp. 1118-1122
-
-
Nicolas, N.1
Finnie, N.J.2
Cavazzana-Calvo, M.3
Papadopoulo, D.4
Le Deist, F.5
Fischer, A.6
Jackson, S.P.7
De Villartay, J.-P.8
-
44
-
-
0031893610
-
The gene for severe combined immunodeficiency disease in Athabascan- speaking Native Americans is located on chromosome 10p
-
DOI 10.1086/301688
-
Li L, Drayna D, Hu D et al. The gene for severe combined immunodeficiency disease in Athabascanspeaking Native Americans is located on chromosome lOp. AmJ Hum Genet 1998; 62(1):136-44. (Pubitemid 28093843)
-
(1998)
American Journal of Human Genetics
, vol.62
, Issue.1
, pp. 136-144
-
-
Li, L.1
Drayna, D.2
Hu, D.3
Hayward, A.4
Gahagan, S.5
Pabst, H.6
Cowan, M.J.7
-
45
-
-
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 Ret 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
-
46
-
-
0036932453
-
Leaky Scid Phenotype Associated with Defective V(D)J Coding End Processing in Artemis-Deficient Mice
-
DOI 10.1016/S1097-2765(02)00755-4
-
Rooney S, Sekiguchi J, Zhu C et al. Leaky Scid phenotype associated with defective V(D)J coding end processing in Artemis-deficient mice. Mol Cell 2002; 10(6):1379-90. (Pubitemid 36050879)
-
(2002)
Molecular Cell
, vol.10
, Issue.6
, pp. 1379-1390
-
-
Rooney, S.1
Sekiguchi, J.2
Zhu, C.3
Cheng, H.-L.4
Manis, J.5
Whitlow, S.6
DeVido, J.7
Foy, D.8
Chaudhuri, J.9
Lombard, D.10
Alt, F.W.11
-
47
-
-
13544259957
-
Targeted disruption of the artemis murine counterpart results in SCID and defective V(D)J recombination that is partially corrected with bone marrow transplantation
-
Li L, Salido E, Zhou Y et al, Targeted disruption of the Artemis murine counterpart results in scmand defective V(D)J recombination that is part ially corrected with bone marrow transplantation.J Immunol 2005; 174(4) :2420-8. (Pubitemid 40223992)
-
(2005)
Journal of Immunology
, vol.174
, Issue.4
, pp. 2420-2428
-
-
Li, L.1
Salido, E.2
Zhou, Y.3
Bhattacharyya, S.4
Yannone, S.M.5
Dunn, E.6
Meneses, J.7
Feeney, A.J.8
Cowan, M.J.9
-
48
-
-
23444456160
-
Omenn's syndrome occurring in patients without mutations in recombination activating genes
-
DOI 10.1016/j.clim.2005.04.014, PII S1521661605001531
-
Gennery AR, Hodges E, Williams AP et al. Omenns syndrome occurring in patients without mutations in recombination activating genes. Clin Immunol 2005; 116(3) :246-56. (Pubitemid 41112728)
-
(2005)
Clinical Immunology
, vol.116
, Issue.3
, pp. 246-256
-
-
Gennery, A.R.1
Hodges, E.2
Williams, A.P.3
Harris, S.4
Villa, A.5
Angus, B.6
Cant, A.J.7
Smith, J.L.8
-
49
-
-
33645834965
-
Radiation-induced delayed cell death in a hypomorphic Artemis cell line
-
EvansPM, Woodbine L, Riballo E et al. Radiation-induced delayed cell death in a hypomorphic Artemis cell line. Hum Mol Genet 2006; 15(8):1303-11.
-
(2006)
Hum Mol Genet
, vol.15
, Issue.8
, pp. 1303-1311
-
-
Evans, P.M.1
Woodbine, L.2
Riballo, E.3
-
50
-
-
0033302071
-
An evolutionary classification of the merallo-bera-lactamase fold proteins
-
Aravind L, An evolutionary classification of the merallo-bera-lactamase fold proteins. In Silico Bioi 1999; 1(2):69-91.
-
(1999)
Silico Bioi
, vol.1
, Issue.2
, pp. 69-91
-
-
Aravind, L.1
-
51
-
-
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. Hairp in opening and overhang processing by an Artemis/DNA, dependent protein kinase complex in nonhomologous end joining and V(D)J recombination. Cell 2002; 108(6) :781,94. (Pubitemid 34327530)
-
(2002)
Cell
, vol.108
, Issue.6
, pp. 781-794
-
-
Ma, Y.1
Pannicke, U.2
Schwarz, K.3
Lieber, M.R.4
-
52
-
-
33745651993
-
The Apollo 5' Exonuclease Functions Together with TRF2 to Protect Telomeres from DNA Repair
-
DOI 10.1016/j.cub.2006.05.021, PII S096098220601565X
-
Lenain C, Bauwens S, Amiard S et al. The Apollo 5′ exonuclease functions together with TRF2 [0 protect telomeres from DNA repair. Curr Bioi 2006; 16(13) :1303-10. (Pubitemid 43996886)
-
(2006)
Current Biology
, vol.16
, Issue.13
, pp. 1303-1310
-
-
Lenain, C.1
Bauwens, S.2
Amiard, S.3
Brunori, M.4
Giraud-Panis, M.-J.5
Gilson, E.6
-
53
-
-
33745652501
-
Apollo, an Artemis-related nuclease, interacts with TRF2 and protects human telomeres in S phase
-
van Overbeck M, de Lange T. Apollo, an Artemis-related nuclease, interacts with TRF2 and protects human telomeres in S phase. Curr Bioi 2006; 16(13):1295-302 .
-
(2006)
Curr Bioi
, vol.16
, Issue.13
, pp. 1295-1302
-
-
Van Overbeck, M.1
De Lange, T.2
-
54
-
-
35148863458
-
The role of DNA-PKcs and artemis in opening viral DNA hairpin termini in various tissues in mice
-
DOI 10.1128/JVI.01225-07
-
Inagaki K, Ma C, Storm TA et al. A Role ofDNA-PKcs and Artemis in Opening Viral DNA Hairpin Termini in Various Tissues in Mice.J Virol 2007; 81(20) :11304-21 (Pubitemid 47536102)
-
(2007)
Journal of Virology
, vol.81
, Issue.20
, pp. 11304-11321
-
-
Inagaki, K.1
Ma, C.2
Storm, T.A.3
Kay, M.A.4
Nakai, H.5
-
56
-
-
1342300521
-
The Metallo-δ-Lactamase/δ-CASP Domain of Artemis Constitutes the Catalytic Core for V(D)J Recombination
-
DOI 10.1084/jem.20031142
-
Poinsignon C, Moshous D, Callebaut I et al. The Metallo-fl-Lactamase/fl- CASP Domain of Artemis Constitutes the Catalytic Core Required for V(D)J Recombination.J Exp Med 2004; 199:315-321. (Pubitemid 38252044)
-
(2004)
Journal of Experimental Medicine
, vol.199
, Issue.3
, pp. 315-321
-
-
Poinsignon, C.1
Moshous, D.2
Callebaut, I.3
De Chasseval, R.4
Villey, I.5
De Villartay, J.-P.6
-
57
-
-
3142555854
-
Functional and biochemical dissection of the structure-specific nuclease ARTEMIS
-
DOI 10.1038/sj.emboj.7600206
-
Pannicke U, Ma Y, Hopfner KP et al. Functional and biochemical dissection of the srructure-specific nuclease ARTEMIS. EMBOJ 2004; 23(9):1987-97. (Pubitemid 38902077)
-
(2004)
EMBO Journal
, vol.23
, Issue.9
, pp. 1987-1997
-
-
Pannicke, U.1
Ma, Y.2
Hopfner, K.-P.3
Niewolik, D.4
Lieber, M.R.5
Schwarz, K.6
-
58
-
-
33750685856
-
DNA-PKcs dependence of Artemis endonucleolyric activity. differences between hairpins and 5′ or 3′ overhangs
-
Niewolik D, Pannicke U. Lu H et al. DNA-PKcs dependence of Artemis endonucleolyric activity. differences between hairpins and 5′ or 3′ overhangs.J Bioi Chern 2006; 281(45) :33900-9.
-
(2006)
J Bioi Chern
, vol.281
, Issue.45
, pp. 33900-34009
-
-
Niewolik, D.1
Pannicke, U.2
Lu, H.3
-
59
-
-
33845286132
-
Crystal structure of TTHA0252 from Thermus thermophilus HB8, a RNA degradation protein of the metallo-δ-lactamase superfamily
-
DOI 10.1093/jb/mvj183
-
Ishikawa H, Nakagawa N. Kuramitsu S et al.Crystalstructure of TTHA0252 from Thermus thermo philus HB8, a RNA degradation protein of the rnetallo-bera-Iactamase superfamily.J Biochern (Tokyo) 2006; 140(4):535-42. (Pubitemid 44870918)
-
(2006)
Journal of Biochemistry
, vol.140
, Issue.4
, pp. 535-542
-
-
Ishikawa, H.1
Nakagawa, N.2
Kuramitsu, S.3
Masui, R.4
-
60
-
-
33845902048
-
Polyadenylation factor CPSF-73 is the pre-mRNA 3'-end-processing endonuclease
-
DOI 10.1038/nature05363, PII NATURE05363
-
Mandel CR, Kaneko S. Zhang H et al. Polyadenylation factor CPSF-73 is the pre-mRNA 3′-endprocessing endonuclease. Nature 2006; 444(7121) :953-6. (Pubitemid 46025011)
-
(2006)
Nature
, vol.444
, Issue.7121
, pp. 953-956
-
-
Mandel, C.R.1
Kaneko, S.2
Zhang, H.3
Gebauer, D.4
Vethantham, V.5
Manley, J.L.6
Tong, L.7
-
61
-
-
9244239168
-
Phosphorylation of Artemis following irradiation-induced DNA damage
-
DOI 10.1002/eji.200425455
-
Poinsignon C, de Chasseval R, Soubeyrand S et al. Phosphorylation of Artemis following irradiationinduced DNA damage. EurJ Immunol 2004; 34(11) :3146-55. (Pubitemid 39549393)
-
(2004)
European Journal of Immunology
, vol.34
, Issue.11
, pp. 3146-3155
-
-
Poinsignon, C.1
De Chasseval, R.2
Soubeyrand, S.3
Moshous, D.4
Fischer, A.5
Hache, R.J.G.6
De Villartay, J.-P.7
-
62
-
-
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(5):715-24. (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
-
63
-
-
4744373121
-
2/M DNA damage checkpoint response
-
DOI 10.1128/MCB.24.20.9207-9220.2004
-
Zhang X, SucciJ, Feng Z et al. Artemis is a phosphorylation target of ATM and ATR and is involved in the GUM DNA damage checkpoint response. Mol Cell Bioi 2004; 24(20):9207-20. (Pubitemid 39313922)
-
(2004)
Molecular and Cellular Biology
, vol.24
, Issue.20
, pp. 9207-9220
-
-
Zhang, X.1
Succi, J.2
Feng, Z.3
Prithivirajsingh, S.4
Story, M.D.5
Legerski, R.J.6
-
64
-
-
20144370280
-
Ataxia-telangiectasia-mutated dependent phosphorylation of Artemis in response to DNA damage
-
DOI 10.1111/j.1349-7006.2005.00019.x
-
Chen L, Morio T. Minegishi Y et al. Ataxia-telangiectas ia-mutated dependent phosphorylation of Artemis in response to DNA damage. Cancer Sci 2005; 96(2) :134-41. (Pubitemid 40425390)
-
(2005)
Cancer Science
, vol.96
, Issue.2
, pp. 134-141
-
-
Chen, L.1
Morio, T.2
Minegishi, Y.3
Nakada, S.-I.4
Nagasawa, M.5
Komatsu, K.6
Chessa, L.7
Villa, A.8
Lecis, D.9
Delia, D.10
Mizutani, S.11
-
65
-
-
26644444577
-
The DNA-dependent protein kinase catalytic subunit phosphorylation sites in human artemis
-
DOI 10.1074/jbc.M507113200
-
Ma Y, Pannicke U. Lu H et al. The DNA-dependent protein kinase catalytic subunit phosphorylation sites in human Artemis.J Bioi Chern 2005; 280(40):33839-46. (Pubitemid 41443103)
-
(2005)
Journal of Biological Chemistry
, vol.280
, Issue.40
, pp. 33839-33846
-
-
Ma, Y.1
Pannicke, U.2
Lu, H.3
Niewolik, D.4
Schwarz, K.5
Lieber, M.R.6
-
66
-
-
16244401671
-
Artemis deficiency confers a DNA double-strand break repair defect and Artemis phosphorylation status is altered by DNA damage and cell cycle progression
-
DOI 10.1016/j.dnarep.2005.02.001
-
WangJ. Pluth JM. Cooper PK et al. Artemis deficiencyconfers a DNA double-strand break repair defect and Artemis phosphorylation status is altered by DNA damage and cell cycle progression. DNA Repair (Arnst) 2005; 4(5) :556-70. (Pubitemid 40462044)
-
(2005)
DNA Repair
, vol.4
, Issue.5
, pp. 556-570
-
-
Wang, J.1
Pluth, J.M.2
Cooper, P.K.3
Cowan, M.J.4
Chen, D.J.5
Yannone, S.M.6
-
67
-
-
33646090620
-
Artemis phosphorylated by DNA-dependent protein kinase associates preferentially with discrete regions of chromatin
-
Soubeyrand S, Pope L, De ChassevalRet al. Artemis phosphorylated by DNA-dependent protein kinase associates preferentially with discrete regions of chromatin. J Mol Bioi 2006; 358(5): 1200-11.
-
(2006)
J Mol Bioi
, vol.358
, Issue.5
, pp. 1200-1211
-
-
Soubeyrand, S.1
Pope, L.2
De Chasseval, R.3
-
68
-
-
33748089029
-
DNA-PK autophosphorylation facilitates Artemis endonuclease activity
-
DOI 10.1038/sj.emboj.7601255, PII 7601255
-
Goodarzi AA, Yu Y, Riballo E et al. DNA-PK autophosphorylation facilitates Artemis endonuclease activity. EMBO J 2006; 25(16):3880-9. (Pubitemid 44300273)
-
(2006)
EMBO Journal
, vol.25
, Issue.16
, pp. 3880-3889
-
-
Goodarzi, A.A.1
Yu, Y.2
Riballo, E.3
Douglas, P.4
Walker, S.A.5
Ye, R.6
Harer, C.7
Marchetti, C.8
Morrice, N.9
Jeggo, P.A.10
Lees-Miller, S.P.11
-
69
-
-
33748872519
-
Interplay between Ku, artemis, and the DNA-dependent protein kinase catalytic subunit at DNA ends
-
DOI 10.1074/jbc.M603047200
-
Drouer J , Frit P. Delteil C et al. Interplay between Ku, Artemis and the DNA-dependent protein kinase catalytic subunit at DNA ends.J Bioi Chern 2006: 281(38) :27784-93. (Pubitemid 44418983)
-
(2006)
Journal of Biological Chemistry
, vol.281
, Issue.38
, pp. 27784-27793
-
-
Drouet, J.1
Frit, P.2
Delteil, C.3
De Villartay, J.-P.4
Salles, B.5
Calsou, P.6
-
71
-
-
33846021317
-
Role of Artemis in DSB repair and guarding chromosomal stability following exposure to ionizing radiation at different stages of cell cycle
-
DOI 10.1016/j.mrfmmm.2006.11.029, PII S0027510706003368
-
Darroudi F, Wiegant W; Meijers M et al. Role of Artemis in DSB repair and guarding chromosomal stability following exposure to ionizing radiation at different stages of cell cycle. Murat Res 2007; 615(1-2) :111-24. (Pubitemid 46054084)
-
(2007)
Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis
, vol.615
, Issue.1-2
, pp. 111-124
-
-
Darroudi, F.1
Wiegant, W.2
Meijers, M.3
Friedl, A.A.4
Van Der Burg, M.5
Fomina, J.6
Van Dongen, J.J.M.7
Van Gent, D.C.8
Zdzienicka, M.Z.9
-
72
-
-
33947541157
-
Processing of 3'-phosphoglycolate-terminated DNA double strand breaks by artemis nuclease
-
DOI 10.1074/jbc.M607745200
-
Povirk LF, Zhou T. Zhou R et al. Processing of 3′-phosphoglycolace- rerminared DNA double strand breaks by Artemis nuclease.J Bioi Chern 2007; 282(6) :3547-58. (Pubitemid 47084423)
-
(2007)
Journal of Biological Chemistry
, vol.282
, Issue.6
, pp. 3547-3558
-
-
Povirk, L.F.1
Zhou, T.2
Zhou, R.3
Cowan, M.J.4
Yannone, S.M.5
-
73
-
-
3943107573
-
Molecular mechanisms of mammalian DNA repair and the DNA damage checkpoints
-
Sancar A, Lindsey-Boltz LA. Unsal-KacmazK et al. Molecular mechanisms of mammalian DNA repair and the DNA damage checkpoints. Annu Rev Biochem 2004; 7339-85.
-
(2004)
Annu Rev Biochem
, pp. 7339-7385
-
-
Sancar, A.1
Lindsey-Boltz, L.A.2
Unsal-Kacmaz, K.3
-
74
-
-
34147216135
-
2/M checkpoint recovery via regulation of Cdk1-cyclin B
-
DOI 10.1128/MCB.02072-06
-
Geng L, Zhang X. Zheng S et al. Artemis links ATM to GUM checkpoint recovery via regulation of Cdkl-cyclin B.Mol Cell Bioi 2007; 27(7):2625-35 . (Pubitemid 46581353)
-
(2007)
Molecular and Cellular Biology
, vol.27
, Issue.7
, pp. 2625-2635
-
-
Geng, L.1
Zhang, X.2
Zheng, S.3
Legerski, R.J.4
-
75
-
-
34548223252
-
2 phase cells
-
Krernpler A, Deckbar D. Jeggo PA et al. An imperfect G2M checkpoint contributes to chromosome instability following irradiation of Sand G2 phase cells. Cell Cycle 2007: 6(14):1682-6. (Pubitemid 47327917)
-
(2007)
Cell Cycle
, vol.6
, Issue.14
, pp. 1682-1686
-
-
Krempler, A.1
Deckbar, D.2
Jeggo, P.A.3
Lobrich, M.4
-
76
-
-
33947204449
-
Chromosome breakage after G2 checkpoint release
-
DOI 10.1083/jcb.200612047
-
Deckbar D, BirrauxJ, Krempler A et al, Chromosome breakage alter G2 checkpoint release.J Cell Bioi 2007; 176(6):749-55. (Pubitemid 46425534)
-
(2007)
Journal of Cell Biology
, vol.176
, Issue.6
, pp. 749-755
-
-
Deckbar, D.1
Birraux, J.2
Krempler, A.3
Tchouandong, L.4
Beucher, A.5
Walker, S.6
Stiff, T.7
Jeggo, P.8
Lobrich, M.9
-
77
-
-
18244362081
-
DNA ligase IV mutations ident ified in patients exhibiting developmental delay and immunodeficiency
-
O'Driscoll M, Cerosaletri KM. Girard PM et al, DNA ligase IV mutations ident ified in patients exhibiting developmental delay and immunodeficiency. Mol Cell 2001; 8(6):1l75-85.
-
(2001)
Mol Cell
, vol.8
, Issue.6
-
-
O'Driscoll, M.1
Cerosaletri, K.M.2
Girard, P.M.3
-
79
-
-
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. EurJ Immunol2006; 36(1) :224-35. (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
-
80
-
-
33645785057
-
A severe form of human combined immunode6ciency due to mutations in DNA ligase IV
-
Enders A, Fisch P. Schwarz K et al. A severe form of human combined immunode6ciency due to mutations in DNA ligase IV.J Immunol 2006; 176(8) :5060-8.
-
(2006)
J Immunol
, vol.176
, Issue.8
, pp. 5060-5068
-
-
Enders, A.1
Fisch, P.2
Schwarz, K.3
-
81
-
-
31044446450
-
+ severe combined immunodeficiency caused by a LIG4 mutation
-
DOI 10.1172/JCI26121
-
van der Burg M. van VeelenLR. Verkaik NS et al, A new type of radiosensitive T-B-NK+ severecombined immunodeficiency caused by a LIG4 mutation. J Clin Invest 2006: 116(1):137-45. (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
-
82
-
-
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 immunodeóciency with microcephaly. Cell 2006; 124(2):287-99. (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
-
83
-
-
23644452672
-
The repair of DNA damages/modi6cations during the maturation of the immune system: Lessons from human primary immunodeficiency disorders and animal models
-
Revy P, Buck D. le Deist F et al. The repair of DNA damages/modi6cations during the maturation of the immune system: lessons from human primary immunodeficiency disorders and animal models. Adv Immunol 2005: 87237-95.
-
(2005)
Adv Immunol
, pp. 87237-87295
-
-
Revy, P.1
Buck, D.2
Le Deist, F.3
-
84
-
-
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(2):301-13. (Pubitemid 43121979)
-
(2006)
Cell
, vol.124
, Issue.2
, pp. 301-313
-
-
Ahnesorg, P.1
Smith, P.2
Jackson, S.P.3
-
87
-
-
33846002032
-
Evolutionary and functional conservation of the DNA non-homologous end-joining protein, XLF/Cernunnos
-
DOI 10.1074/jbc.M608727200
-
Hentges P, Ahnesorg P, Pitcher RS et al. Evolutionary and functional conservation of the DNA nonhomologous end-joining protein, XLF/Cernunnos.J BioI Chern 2006; 281(49):37517-26. (Pubitemid 46042055)
-
(2006)
Journal of Biological Chemistry
, vol.281
, Issue.49
, pp. 37517-37526
-
-
Hentges, P.1
Ahnesorg, P.2
Pitcher, R.S.3
Bruce, C.K.4
Kysela, B.5
Green, A.J.6
Bianchi, J.7
Wilson, T.E.8
Jackson, S.P.9
Doherty, A.J.10
-
88
-
-
0035191378
-
Crystal structure of an Xrcc4-DNA ligase IV complex
-
DOI 10.1038/nsb725
-
Sibanda BL, Critchlow SE, BegunJ et al. Crystal structure of an Xrcc4-DNA ligase IV complex. Nat Struct Bioi 2001; 8(12) :1015-9. (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
-
89
-
-
0034669204
-
Crystal structure of the Xrcc4 DNA repair protein and implications for end joining
-
Junop MS, Modesti M, Guarne A et al,Crystal structure of the Xrcc4 DNA repair protein and implications for end joining. EMBOJ 2000; 19(22) :5962-70.
-
(2000)
EMBOJ
, vol.19
, Issue.22
, pp. 5962-5970
-
-
Junop, M.S.1
Modesti, M.2
Guarne, A.3
-
90
-
-
33744938713
-
Cernunnos interacts with the XRCC4 DNA-ligase IV complex and is homologous to the yeast nonhomologous end-joining factor Nej1
-
DOI 10.1074/jbc.C500473200
-
Callebaut I, Malivert L, Fischer A et al. Cernunnos interacts with the XRCC4 × DNA-ligase IV complex and is homologous to the yeast nonhomologous end-joining factor Nej1.J BioI Chern 2006; 281(20):13857-60. (Pubitemid 43848307)
-
(2006)
Journal of Biological Chemistry
, vol.281
, Issue.20
, pp. 13857-13860
-
-
Callebaut, I.1
Malivert, L.2
Fischer, A.3
Mornon, J.-P.4
Revy, P.5
De Villartay, J.-P.6
-
91
-
-
34249685474
-
Length-dependent binding of human XLF to DNA and stimulation of XRCC4 DNA ligase IV activity
-
DOI 10.1074/jbc.M609904200
-
Lu H, Pannickc: U.Schwarz K et al. Length-dependent binding of human XLF to DNA and stimulation of XRCC4.DNA ligase IV activity.J Bioi Chern 2007; 282(15):11155-62. (Pubitemid 47100736)
-
(2007)
Journal of Biological Chemistry
, vol.282
, Issue.15
, pp. 11155-11162
-
-
Lu, H.1
Pannicke, U.2
Schwarz, K.3
Lieber, M.R.4
-
92
-
-
34548567192
-
Modes of interaction among yeast Nej1, Lif1 and Dnl4 proteins and comparison to human XLF, XRCC4 and Lig4
-
DOI 10.1016/j.dnarep.2007.04.014, PII S1568786407001814
-
Deshpande RA, Wilson TE. Modes of interaction among yeast Nejl, Lifl and Dnl4 proteins and comparison to human XLF, XRCC4 and Lig4. DNA Repair (Arnst) 2007; 6(10):1507-16. (Pubitemid 47386045)
-
(2007)
DNA Repair
, vol.6
, Issue.10
, pp. 1507-1516
-
-
Deshpande, R.A.1
Wilson, T.E.2
-
93
-
-
0035889233
-
NHEJ regulation by mating type is exercised through a novel protein Lifzp, essential to the ligase IV pathway
-
Frank-Vaillant M. Marcand S. NHEJ regulation by mating type is exercised through a novel protein. Lifzp, essential to the ligase IV pathway. Genes Dev 2001 ; 15(22) :3005-12.
-
(2001)
Genes Dev
, vol.15
, Issue.22
, pp. 3005-30012
-
-
Frank-Vaillant, M.1
Marcand, S.2
-
94
-
-
0035899933
-
Nej1p, a cell type-specific regulator of nonhomologous end joining in yeast
-
DOI 10.1016/S0960-9822(01)00488-2
-
Kegel A, SjostrandJO. Astrom SU Nejlp, a cell type-specific regulator of nonhomologous end joining in yeast. CUrt BioI 2001 ; 11(20) :1611-7. (Pubitemid 32978528)
-
(2001)
Current Biology
, vol.11
, Issue.20
, pp. 1611-1617
-
-
Kegel, A.1
Sjostrand, J.O.O.2
Astrom, S.U.3
-
95
-
-
0035818985
-
NEJ1 controls non-homologous end joining in Saccharomyces cerevisiae
-
DOI 10.1038/414666a
-
Valencia M, Benrele M. VazeMB et al. NEJ1 controls nonhomologous end joining in Saccharomyces cerevisiae. Nature 2001; 414(6864):666-9. (Pubitemid 33151265)
-
(2001)
Nature
, vol.414
, Issue.6864
, pp. 666-669
-
-
Valencia, M.1
Bentele, M.2
Vaze, M.B.3
Herrmann, G.4
Kraus, E.5
Lee, S.E.6
Schar, P.7
Haber, J.E.8
-
96
-
-
34247877686
-
Xlf1 is required for DNA repair by nonhomologous end joining in Schizosaccharomyces pombe
-
DOI 10.1534/genetics.106.067850
-
Cavero S, Chahwan C, Russell P. Xlfl is required for DNA repair by nonhomologous end joining in Schizosaccharomyces pombe. Genetics 2007; 175(2):963-7. (Pubitemid 46798291)
-
(2007)
Genetics
, vol.175
, Issue.2
, pp. 963-967
-
-
Cavero, S.1
Chahwan, C.2
Russell, P.3
-
97
-
-
36148957874
-
Interplay between Cernunnos-XLF and nonhomologous end-joining proteins at DNA ends in the cell
-
DOI 10.1074/jbc.M704554200
-
Wu PY, Frit P. Malivert L et al, Interplay between Cernunnos/Xl.F and nonhomologous end-joining proteins at DNA ends in the cellJ BioI Chern 2007; 282(44):31937-43. (Pubitemid 350106409)
-
(2007)
Journal of Biological Chemistry
, vol.282
, Issue.44
, pp. 31937-31943
-
-
Wu, P.-Y.1
Frit, P.2
Malivert, L.3
Revy, P.4
Biard, D.5
Salles, B.6
Calsou, P.7
-
98
-
-
33846088785
-
The non-homologous end-joining protein Nej1p is a target of the DNA damage checkpoint
-
DOI 10.1016/j.dnarep.2006.09.010, PII S1568786406002904
-
Ahnesorg p, Jackson SP. The nonhomologous end-joining protein Nejlp is a target of the DNA damage checkpoint. DNA Repair (Amsr) 2007 ; 6(2) :190-201. (Pubitemid 46074493)
-
(2007)
DNA Repair
, vol.6
, Issue.2
, pp. 190-201
-
-
Ahnesorg, P.1
Jackson, S.P.2
-
99
-
-
0032537803
-
DNA ligase IV binds to XRCC4 via a motif located between rather than within its BRCT domains
-
Grawunder U, Zimmer D. Leiber MR. DNA ligase IV binds to XRCC4 via a motif located between rather than within its BRCT domains. Curt BioI 1998; 8(15) :873-6. (Pubitemid 28356047)
-
(1998)
Current Biology
, vol.8
, Issue.15
, pp. 873-876
-
-
Grawunder, U.1
Zimmer, D.2
Lieber, M.R.3
-
100
-
-
0034628617
-
Lif1p targets the DNA ligase Lig4p to sites of DNA double-strand breaks
-
DOI 10.1016/S0960-9822(00)00317-1
-
Teo SH,Jackson SP. Liflp targets the DNA ligase Lig4p to sites of DNA double-strand breaks. Curr BioI 2000 ; 10(3) :165-8. (Pubitemid 30115750)
-
(2000)
Current Biology
, vol.10
, Issue.3
, pp. 165-168
-
-
Teo, S.-H.1
Jackson, S.P.2
-
101
-
-
0030743386
-
Activity of DNA ligase IV stimulated by complex formation with XRCC4 protein in mammalian cells
-
DOI 10.1038/41358
-
Grawunder U, Wilm M. Wu × et al. Activity ofDNA ligase IV stimulated by complex formation with XRCC4 protein in mammalian cells. Nature 1997; 388(6641):492-5. (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
-
103
-
-
34848841930
-
Single-stranded DNA ligation and XLF-stimulated incompatible DNA end ligation by the XRCC4-DNA ligase IV complex: Influence of terminal DNA sequence
-
DOI 10.1093/nar/gkm579
-
Gu J, Lu H. Tsai AG et al. Single-stranded DNA ligation and Xl.F-sdmulared incompatible DNA end ligation by the XRCC4-DNA ligase IV complex : influence of terminal DNA sequence. Nucleic Acids Res 2007 ; 35(17):5755-62. (Pubitemid 47506292)
-
(2007)
Nucleic Acids Research
, vol.35
, Issue.17
, pp. 5755-5762
-
-
Gu, J.1
Lu, H.2
Tsai, A.G.3
Schwarz, K.4
Lieber, M.R.5
-
104
-
-
0032417640
-
A critical role for DNA end-joining proteins in both lymphogenesis and neurogenesis
-
DOI 10.1016/S0092-8674(00)81714-6
-
Gao Y,Sun Y,Frank KM et al.A critical role for DNA end-joining proteins in both Iymphogenesis and neurogenes is. Cell 1998; 95(7) :891-902. (Pubitemid 29019042)
-
(1998)
Cell
, vol.95
, Issue.7
, pp. 891-902
-
-
Gao, Y.1
Sun, Y.2
Frank, K.M.3
Dikkes, P.4
Fujiwara, Y.5
Seidl, K.J.6
Sekiguchi, J.M.7
Rathbun, G.A.8
Swat, W.9
Wang, J.10
Bronson, R.T.11
Malynn, B.A.12
Bryans, M.13
Zhu, C.14
Chaudhuri, J.15
Davidson, L.16
Ferrini, R.17
Stamato, T.18
Orkin, S.H.19
Greenberg, M.E.20
Alt, F.W.21
more..
-
105
-
-
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(6707):173-7. (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
-
106
-
-
33748144349
-
Pathways that suppress programmed DNA breaks from progressing to chromosomal breaks and translocations
-
DOI 10.1016/j.dnarep.2006.05.024, PII S1568786406001637, Mechanisms of Chromosomal Translocations
-
Franco S, Ale FW; Manis JP. Pathways that suppress programmed DNA breaks from progressing to chromosomal breaks and translocations. DNA Repair (Arnst) 2006; 5(9-10) :1030-41. (Pubitemid 44308467)
-
(2006)
DNA Repair
, vol.5
, Issue.9-10
, pp. 1030-1041
-
-
Franco, S.1
Alt, F.W.2
Manis, J.P.3
-
107
-
-
0037312006
-
Partial T and B lymphocyte immunodeficiency and predisposition to lymphoma in patients with hypomorphic mutations in Artemis
-
DOI 10.1172/JCI200316774
-
Moshous D, Pannerier C. Chasseval Rd R et al. Partial T- and Bvlymphocyte immunodeficiency and predisposition to lymphoma in patients with hypomorphic mutations in Artemis. J Clin Invest 2003 ; 111(3):381-7. (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
|