-
1
-
-
4444339751
-
ATM and Ataxia telangiactasia
-
McKinnon PJ: ATM and Ataxia telangiactasia. EMBO 58: 772-776, 2004.
-
(2004)
EMBO
, vol.58
, pp. 772-776
-
-
McKinnon, P.J.1
-
2
-
-
3242876404
-
Ataxia telangiectasia, an evolving phenotype
-
Chun HH and Gatti RA: Ataxia telangiectasia, an evolving phenotype. DNA Repair 3: 1187-1196, 2004.
-
(2004)
DNA Repair
, vol.3
, pp. 1187-1196
-
-
Chun, H.H.1
Gatti, R.A.2
-
3
-
-
1842607448
-
Immunodeficiency and infections in ataxia-telangiectasia
-
Nowak-Wegrzyn A, Crawford TO, Winkelstein JA, Carson KA and Lederman HM: Immunodeficiency and infections in ataxia-telangiectasia. J Pediatr 144: 505-511, 2004.
-
(2004)
J Pediatr
, vol.144
, pp. 505-511
-
-
Nowak-Wegrzyn, A.1
Crawford, T.O.2
Winkelstein, J.A.3
Carson, K.A.4
Lederman, H.M.5
-
4
-
-
0028023434
-
Ataxia telangiectasia: MR and CT finding
-
Farina L, Uggetti C, Ottolini A, Martelli A, Bergamaschi R, Sibilla L, Zappoli F, Egitto MG and Lanzi G: Ataxia telangiectasia: MR and CT finding. J Comput Assist Tomogr 18: 724-727, 1994.
-
(1994)
J Comput Assist Tomogr
, vol.18
, pp. 724-727
-
-
Farina, L.1
Uggetti, C.2
Ottolini, A.3
Martelli, A.4
Bergamaschi, R.5
Sibilla, L.6
Zappoli, F.7
Egitto, M.G.8
Lanzi, G.9
-
5
-
-
38449117827
-
Current and potential therapeutic strategies for the treatment of ataxia-telangiectasia
-
Lavin MF, Gueven N, Bottle S and Gatti RA: Current and potential therapeutic strategies for the treatment of ataxia-telangiectasia. British Med Bull 81/82: 129-147, 2007.
-
(2007)
British Med Bull
, vol.81-82
, pp. 129-147
-
-
Lavin, M.F.1
Gueven, N.2
Bottle, S.3
Gatti, R.A.4
-
6
-
-
23844433614
-
Molecular basis of ataxia telangiectasia and related diseases
-
Ball LG and Xiao W: Molecular basis of ataxia telangiectasia and related diseases. Acta Parmacologica Sinica 26: 897-907, 2005.
-
(2005)
Acta Parmacologica Sinica
, vol.26
, pp. 897-907
-
-
Ball, L.G.1
Xiao, W.2
-
7
-
-
0033613099
-
Purification and DNA binding properties of the ataxia-telangiectasia gene product ATM
-
Smith GCM, Cary RB, Lakin ND, Hann BC, Teo SH, Chen DJ and Jackson SP: Purification and DNA binding properties of the ataxia-telangiectasia gene product ATM. Proc. Nat Acad Sci USA 96: 11134-11139, 1999.
-
(1999)
Proc. Nat Acad Sci USA
, vol.96
, pp. 11134-11139
-
-
Smith, G.C.M.1
Cary, R.B.2
Lakin, N.D.3
Hann, B.C.4
Teo, S.H.5
Chen, D.J.6
Jackson, S.P.7
-
8
-
-
0343380661
-
Ataxia-telangiectasia: Identification and detection of founder-effect mutations in the ATM gene in ethnic populations
-
Telatar M, Teraoka S, Wang Z, Chun HH, Liang T, Castellvi-Bel S, Udar N, Borresen-Dale AL, Chessa L, Bernatowska-Matuszkiewicz E, Porras O, Watanabe M, Junker A, Concannon P and Gatti RA: Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations. Am J Hum Genet 62: 86-97, 1998.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 86-97
-
-
Telatar, M.1
Teraoka, S.2
Wang, Z.3
Chun, H.H.4
Liang, T.5
Castellvi-Bel, S.6
Udar, N.7
Borresen-Dale, A.L.8
Chessa, L.9
Bernatowska-Matuszkiewicz, E.10
Porras, O.11
Watanabe, M.12
Junker, A.13
Concannon, P.14
Gatti, R.A.15
-
9
-
-
0029057336
-
A single ataxia telangiectasia gene with a product similar to PI-3 kinase
-
Savitsky K, Bar-Shira A, Gilad S, Rotman G, Ziv Y, Vanagaite L, Tagle DA, Smith S, Uziel T, Sfez S, Ashkenazi M, Pecker I, Frydman M, Harnik R, Patanjali SR, Simmons A, Clines GA, Sartiel A, Gatti RA, Chessa L, Sanal O, Lavin MF, Jaspers NG, Taylor AM, Arlett CF, Miki T, Weissman SM, Lovett M, Collins FS and Shiloh Y: A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science 268: 1749-1753, 1995.
-
(1995)
Science
, vol.268
, pp. 1749-1753
-
-
Savitsky, K.1
Bar-Shira, A.2
Gilad, S.3
Rotman, G.4
Ziv, Y.5
Vanagaite, L.6
Tagle, D.A.7
Smith, S.8
Uziel, T.9
Sfez, S.10
Ashkenazi, M.11
Pecker, I.12
Frydman, M.13
Harnik, R.14
Patanjali, S.R.15
Simmons, A.16
Clines, G.A.17
Sartiel, A.18
Gatti, R.A.19
Chessa, L.20
Sanal, O.21
Lavin, M.F.22
Jaspers, N.G.23
Taylor, A.M.24
Arlett, C.F.25
Miki, T.26
Weissman, S.M.27
Lovett, M.28
Collins, F.S.29
Shiloh, Y.30
more..
-
10
-
-
0034946243
-
Ataxia telangiectasia gene mutations in leukemia and lymphoma
-
Boultwood J: Ataxia telangiectasia gene mutations in leukemia and lymphoma. J Clin Pathol 54: 512-516, 2001.
-
(2001)
J Clin Pathol
, vol.54
, pp. 512-516
-
-
Boultwood, J.1
-
11
-
-
1942508005
-
Expression of ATM protein and its relationship with p53 in pancreatic carcinoma with tissue array
-
Yu G, Zhu M, Zhu Z, Ni C, Zheng J and Li F: Expression of ATM protein and its relationship with p53 in pancreatic carcinoma with tissue array. Pancreas 28: 421-426, 2004.
-
(2004)
Pancreas
, vol.28
, pp. 421-426
-
-
Yu, G.1
Zhu, M.2
Zhu, Z.3
Ni, C.4
Zheng, J.5
Li, F.6
-
12
-
-
23844507598
-
The Ataxia-telangiectasia mutated gene and breast cancer: Gene expression profiles and sequence variants
-
Hall J: The Ataxia-telangiectasia mutated gene and breast cancer: gene expression profiles and sequence variants. Cancer Letters 227: 105-114, 2005.
-
(2005)
Cancer Letters
, vol.227
, pp. 105-114
-
-
Hall, J.1
-
13
-
-
0030805899
-
Diversity of ATM gene mutations detected in patients with ataxia-telangiectasia
-
Concannon P and Gattie RA: Diversity of ATM gene mutations detected in patients with ataxia-telangiectasia. Hum Mut 10: 100-107, 1997.
-
(1997)
Hum Mut
, vol.10
, pp. 100-107
-
-
Concannon, P.1
Gattie, R.A.2
-
14
-
-
10444237214
-
ATM signalling and genomic instability in response to DNA damage
-
Lavin MF, Birrell G, Chen P, Kozlov S, Scott S and Gueven N: ATM signalling and genomic instability in response to DNA damage. Mutation Research 569: 123-132, 2005.
-
(2005)
Mutation Research
, vol.569
, pp. 123-132
-
-
Lavin, M.F.1
Birrell, G.2
Chen, P.3
Kozlov, S.4
Scott, S.5
Gueven, N.6
-
15
-
-
0034729226
-
Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients
-
Li A and Swift M: Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients. Am J Med Genet 92: 70-77, 2000.
-
(2000)
Am J Med Genet
, vol.92
, pp. 70-77
-
-
Li, A.1
Swift, M.2
-
16
-
-
0029798776
-
A high frequency of distinct ATM gene mutations in ataxia-telangiectasia
-
Wright J, Teraoka S, Onengut S, Tolun A, Gatti RA, Ochs HD and Concannon P: A high frequency of distinct ATM gene mutations in ataxia-telangiectasia. Am J Hum Genet 59: 839-846, 1996.
-
(1996)
Am J Hum Genet
, vol.59
, pp. 839-846
-
-
Wright, J.1
Teraoka, S.2
Onengut, S.3
Tolun, A.4
Gatti, R.A.5
Ochs, H.D.6
Concannon, P.7
-
17
-
-
0034679076
-
Cancer Risk and the ATM Gene: A Continuing Debate
-
Khanna KK: Cancer Risk and the ATM Gene: a Continuing Debate. J Nat Canc Instit 92: 795-802, 2000.
-
(2000)
J Nat Canc Instit
, vol.92
, pp. 795-802
-
-
Khanna, K.K.1
-
18
-
-
0034141562
-
The controlling role of ATM in homologous recombinational repair of DNA damage
-
Morrison C, Sonoda E, Takao N, Shinohara A, Yamamoto K and Takeda S: The controlling role of ATM in homologous recombinational repair of DNA damage. EMBO 19: 463-471, 2000.
-
(2000)
EMBO
, vol.19
, pp. 463-471
-
-
Morrison, C.1
Sonoda, E.2
Takao, N.3
Shinohara, A.4
Yamamoto, K.5
Takeda, S.6
-
19
-
-
0033909670
-
Ataxia-Telangiectasia: Phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity
-
Becker-Catania, SG, Chen G, Hwang MJ, Wang Z, Sun X, Sanal O, Bernatowska-Matuszkiewicz E, Chessa L, Lee EyHP and Gatti RA: Ataxia-Telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity. Mol Genet Metab 70: 122-133, 2000.
-
(2000)
Mol Genet Metab
, vol.70
, pp. 122-133
-
-
Becker-Catania, S.G.1
Chen, G.2
Hwang, M.J.3
Wang, Z.4
Sun, X.5
Sanal, O.6
Bernatowska-Matuszkiewicz, E.7
Chessa, L.8
Lee, E.H.P.9
Gatti, R.A.10
-
20
-
-
33645072212
-
ATM-dependent DNA damage surveillance in T-cell development and leukemogenesis : The DSB connection
-
Matei IR, Guidos CJ and Danska JS: ATM-dependent DNA damage surveillance in T-cell development and leukemogenesis : the DSB connection. Immun Rev 209: 142-158, 2006.
-
(2006)
Immun Rev
, vol.209
, pp. 142-158
-
-
Matei, I.R.1
Guidos, C.J.2
Danska, J.S.3
-
22
-
-
2442511752
-
Telomere shortening triggers senescence of human cells through a pathway involving ATM, p53 and p21(CIPI) but not p16(INK4A)
-
Herbig U, Chen BP, Chen DJ and Sedivy JM: Telomere shortening triggers senescence of human cells through a pathway involving ATM, p53 and p21(CIPI) but not p16(INK4A). Mol Cell 14: 501-513, 2004.
-
(2004)
Mol Cell
, vol.14
, pp. 501-513
-
-
Herbig, U.1
Chen, B.P.2
Chen, D.J.3
Sedivy, J.M.4
-
23
-
-
0029681361
-
Accelerated telomere shortening in ataxia telangiectasia.Nat Genet
-
Metcalfe JA, Parkhill J, Campbell L, Stacey M, Biggs P, Byrd PJ and Taylor AM: Accelerated telomere shortening in ataxia telangiectasia.Nat Genet 13: 350-353, 1996.
-
(1996)
, vol.13
, pp. 350-353
-
-
Metcalfe, J.A.1
Parkhill, J.2
Campbell, L.3
Stacey, M.4
Biggs, P.5
Byrd, P.J.6
Taylor, A.M.7
-
25
-
-
0035879874
-
Cancer risk in heterozygotes for Ataxia-Telangiectasia
-
Geoffroy-Perez B, Janin N, Osian K, Lauge A, Croquette MF, Griscelli C, Debre M, Bressac-de-Paillerets B, Aurias A Stoppa-Lyonnet D. and Andrieu N: Cancer risk in heterozygotes for Ataxia-Telangiectasia. Int J Cancer 93: 288-293, 2001
-
(2001)
Int J Cancer
, vol.93
, pp. 288-293
-
-
Geoffroy-Perez, B.1
Janin, N.2
Osian, K.3
Lauge, A.4
Croquette, M.F.5
Griscelli, C.6
Debre, M.7
Bressac-de-Paillerets, B.8
Aurias, A.9
Stoppa-Lyonnet, D.10
Andrieu, N.11
-
26
-
-
0032585526
-
Targeted disruption of the gene encoding DNA ligase IV leads to lethality in embryonic mice
-
Barnes DE, Stamp G, Rosewell I, Denzel A and Lindahl T: Targeted disruption of the gene encoding DNA ligase IV leads to lethality in embryonic mice. Curr Biol 8: 1395-1398, 1998.
-
(1998)
Curr Biol
, vol.8
, pp. 1395-1398
-
-
Barnes, D.E.1
Stamp, G.2
Rosewell, I.3
Denzel, A.4
Lindahl, T.5
-
27
-
-
0032558336
-
Role of the ataxia-telangiectasia gene (ATM) in breast cancer
-
Lavin M: Role of the ataxia-telangiectasia gene (ATM) in breast cancer. BMJ 317: 486-487, 1998.
-
(1998)
BMJ
, vol.317
, pp. 486-487
-
-
Lavin, M.1
-
28
-
-
33947168891
-
Mechanisms of disease: DNA repair defects and neurological disease. Nature clinical practice
-
Rao KS: Mechanisms of disease: DNA repair defects and neurological disease. Nature clinical practice. Neurology 3: 162-172, 2007.
-
(2007)
Neurology
, vol.3
, pp. 162-172
-
-
Rao, K.S.1
-
29
-
-
0033544724
-
The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder
-
Stewart GS, Maser RS, Stankovit T, Bressan DA, Kaplan MI, Jaspers NG, Raams A, Byrd PJ, Petrini JH and Taylor AM: The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder. Cell 99: 577-587, 1999.
-
(1999)
Cell
, vol.99
, pp. 577-587
-
-
Stewart, G.S.1
Maser, R.S.2
Stankovit, T.3
Bressan, D.A.4
Kaplan, M.I.5
Jaspers, N.G.6
Raams, A.7
Byrd, P.J.8
Petrini, J.H.9
Taylor, A.M.10
-
30
-
-
0032076190
-
Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome
-
Varon R, Vissinga C, Platzer M, Cerosaletti KM, Chrzanowska KH, Saar K, Beckmann G, Seemanová E, Cooper PR, Nowak NJ, Stumm M, Weemaes CM, Gatti RA, Wilson RK, Digweed M, Rosenthal A, Sperling K, Concannon P and Reis A: Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome. Cell 93: 467-476, 1998.
-
(1998)
Cell
, vol.93
, pp. 467-476
-
-
Varon, R.1
Vissinga, C.2
Platzer, M.3
Cerosaletti, K.M.4
Chrzanowska, K.H.5
Saar, K.6
Beckmann, G.7
Seemanová, E.8
Cooper, P.R.9
Nowak, N.J.10
Stumm, M.11
Weemaes, C.M.12
Gatti, R.A.13
Wilson, R.K.14
Digweed, M.15
Rosenthal, A.16
Sperling, K.17
Concannon, P.18
Reis, A.19
|