-
1
-
-
0033578411
-
Loss of the ataxia-telangiectasia gene product causes oxidative damage in target organs
-
10449794 10.1073/pnas.96.17.9915 1:CAS:528:DyaK1MXlsVymur8%3D
-
Barlow, C., Dennery, P. A., Shigenaga, M. K., et al. (1999). Loss of the ataxia-telangiectasia gene product causes oxidative damage in target organs. Proceedings of the National Academy of Sciences of the United States of America, 96, 9915-9919.
-
(1999)
Proceedings of the National Academy of Sciences of the United States of America
, vol.96
, pp. 9915-9919
-
-
Barlow, C.1
Dennery, P.A.2
Shigenaga, M.K.3
-
2
-
-
15844426692
-
Atm-deficient mice: A paradigm of ataxia telangiectasia
-
8689683 10.1016/S0092-8674(00)80086-0 1:CAS:528:DyaK28XktlGnsbc%3D
-
Barlow, C., Hirotsune, S., Paylor, R., et al. (1996). Atm-deficient mice: A paradigm of ataxia telangiectasia. Cell, 86, 159-171.
-
(1996)
Cell
, vol.86
, pp. 159-171
-
-
Barlow, C.1
Hirotsune, S.2
Paylor, R.3
-
3
-
-
67749147223
-
Modeling ATM mutant proteins from missense changes confirms retained kinase activity
-
19431188 10.1002/humu.21034 1:CAS:528:DC%2BD1MXhtVKrtrbE
-
Barone, G., Groom, A., Reiman, A., et al. (2009). Modeling ATM mutant proteins from missense changes confirms retained kinase activity. Human Mutation, 30, 1222-1230.
-
(2009)
Human Mutation
, vol.30
, pp. 1222-1230
-
-
Barone, G.1
Groom, A.2
Reiman, A.3
-
4
-
-
78651043982
-
Ataxia-telangiectasia; A familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection
-
13542097 1:STN:280:DyaG1c%2FosFSnsA%3D%3D
-
Boder, E., & Sedgwick, R. P. (1958). Ataxia-telangiectasia; a familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection. Pediatrics, 21, 526-554.
-
(1958)
Pediatrics
, vol.21
, pp. 526-554
-
-
Boder, E.1
Sedgwick, R.P.2
-
5
-
-
37849014876
-
Large genomic mutations within the ATM gene detected by MLPA, including a duplication of 41 kb from exon 4 to 20
-
17910737 1:CAS:528:DC%2BD1cXis1Wqur8%3D
-
Cavalieri, S., Funaro, A., Pappi, P., et al. (2008). Large genomic mutations within the ATM gene detected by MLPA, including a duplication of 41 kb from exon 4 to 20. Annals of Human Genetics, 72(1), 10-18.
-
(2008)
Annals of Human Genetics
, vol.72
, Issue.1
, pp. 10-18
-
-
Cavalieri, S.1
Funaro, A.2
Pappi, P.3
-
6
-
-
33749132158
-
ATM mutations in Italian families with ataxia telangiectasia include two distinct large genomic deletions
-
10.1002/humu.9454
-
Cavalieri, S., Funaro, A., Porcedda, P., et al. (2006). ATM mutations in Italian families with ataxia telangiectasia include two distinct large genomic deletions. Human Mutat, 27, 1061.
-
(2006)
Human Mutat
, vol.27
, pp. 1061
-
-
Cavalieri, S.1
Funaro, A.2
Porcedda, P.3
-
7
-
-
0030805899
-
Diversity of ATM gene mutations detected in patients with ataxia-telangiectasia
-
9259193 10.1002/(SICI)1098-1004(1997)10:2<100: AID-HUMU2>3.0.CO;2-O 1:CAS:528:DyaK2sXls1Srsbo%3D
-
Concannon, P., & Gatti, R. A. (1997). Diversity of ATM gene mutations detected in patients with ataxia-telangiectasia. Human Mutation, 10, 100-107.
-
(1997)
Human Mutation
, vol.10
, pp. 100-107
-
-
Concannon, P.1
Gatti, R.A.2
-
8
-
-
70350448984
-
Nonaminoglycoside compounds induce readthrough of nonsense mutations
-
19770270 10.1084/jem.20081940 1:CAS:528:DC%2BD1MXht1SrtbnI
-
Du, L., Damoiseaux, R., Nahas, S., et al. (2009). Nonaminoglycoside compounds induce readthrough of nonsense mutations. Journal of Experimental Medicine, 206, 2285-2297.
-
(2009)
Journal of Experimental Medicine
, vol.206
, pp. 2285-2297
-
-
Du, L.1
Damoiseaux, R.2
Nahas, S.3
-
9
-
-
0347988093
-
Nonclassical splicing mutations in the coding and noncoding regions of the ATM Gene: Maximum entropy estimates of splice junction strengths
-
14695534 10.1002/humu.10295 1:CAS:528:DC%2BD2cXptlOisg%3D%3D
-
Eng, L., Coutinho, G., Nahas, S., et al. (2004). Nonclassical splicing mutations in the coding and noncoding regions of the ATM Gene: Maximum entropy estimates of splice junction strengths. Human Mutation, 23, 67-76.
-
(2004)
Human Mutation
, vol.23
, pp. 67-76
-
-
Eng, L.1
Coutinho, G.2
Nahas, S.3
-
10
-
-
0024205754
-
Localization of an ataxia telangiectasia gene to chromosome 11q22-23
-
3200306 10.1038/336577a0 1:STN:280:DyaL1M%2FntVKktQ%3D%3D
-
Gatti, R. A., Berkel, I., Boder, E., et al. (1988). Localization of an ataxia telangiectasia gene to chromosome 11q22-23. Nature, 336, 577-580.
-
(1988)
Nature
, vol.336
, pp. 577-580
-
-
Gatti, R.A.1
Berkel, I.2
Boder, E.3
-
11
-
-
13344269672
-
Predominance of null mutations in ataxia-telangiectasia
-
8845835 10.1093/hmg/5.4.433 1:CAS:528:DyaK28XhvFyitr8%3D
-
Gilad, S., Khosravi, R., Shkedy, D., et al. (1996). Predominance of null mutations in ataxia-telangiectasia. Human Molecular Genetics, 5, 433-439.
-
(1996)
Human Molecular Genetics
, vol.5
, pp. 433-439
-
-
Gilad, S.1
Khosravi, R.2
Shkedy, D.3
-
12
-
-
10044225999
-
Autophosphorylation of ataxia-telangiectasia mutated is regulated by protein phosphatase 2A
-
15510216 10.1038/sj.emboj.7600455 1:CAS:528:DC%2BD2cXpsFahurg%3D
-
Goodarzi, A. A., Jonnalagadda, J. C., Douglas, P., et al. (2004). Autophosphorylation of ataxia-telangiectasia mutated is regulated by protein phosphatase 2A. EMBO Journal, 23, 4451-4461.
-
(2004)
EMBO Journal
, vol.23
, pp. 4451-4461
-
-
Goodarzi, A.A.1
Jonnalagadda, J.C.2
Douglas, P.3
-
13
-
-
84857189416
-
Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATMmissense mutations
-
22071889 10.1038/ejhg.2011.196
-
Jacquemin, V., Rieunier, G., Jacob, S., et al. (2011). Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATMmissense mutations. European Journal of Human Genetics, 20, 305-312.
-
(2011)
European Journal of Human Genetics
, vol.20
, pp. 305-312
-
-
Jacquemin, V.1
Rieunier, G.2
Jacob, S.3
-
14
-
-
30944455440
-
Mutation analysis of the ATM gene in two Chinese patients with ataxia telangiectasia
-
10.1016/j.jns.2005.09.001 1:CAS:528:DC%2BD28XmsFahtA%3D%3D
-
Jiang, H., Tang, B., Xia, K., et al. (2006). Mutation analysis of the ATM gene in two Chinese patients with ataxia telangiectasia. Journal of neurological sciences, 241, 1-6.
-
(2006)
Journal of Neurological Sciences
, vol.241
, pp. 1-6
-
-
Jiang, H.1
Tang, B.2
Xia, K.3
-
15
-
-
0034729226
-
Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients
-
10817650 10.1002/(SICI)1096-8628(20000529)92:3<170: AID-AJMG3>3.0.CO;2-# 1:STN:280:DC%2BD3c3nsFemsw%3D%3D
-
Li, A., & Swift, M. (2000). Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients. American Journal of Medical Genetics, 92, 170-177.
-
(2000)
American Journal of Medical Genetics
, vol.92
, pp. 170-177
-
-
Li, A.1
Swift, M.2
-
16
-
-
34249947699
-
ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage
-
17525332 10.1126/science.1140321 1:CAS:528:DC%2BD2sXls1Kit7o%3D
-
Matsuoka, S., Ballif, B. A., Smogorzewska, A., et al. (2007). ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage. Science, 316, 1160-1166.
-
(2007)
Science
, vol.316
, pp. 1160-1166
-
-
Matsuoka, S.1
Ballif, B.A.2
Smogorzewska, A.3
-
17
-
-
0038384963
-
Independent mutational events are rare in the ATM gene: Haplotype prescreening enhances mutation detection rate
-
12815592 10.1002/humu.10232 1:CAS:528:DC%2BD3sXmtVanur0%3D
-
Mitui, M., Campbell, C., Coutinho, G., et al. (2003). Independent mutational events are rare in the ATM gene: Haplotype prescreening enhances mutation detection rate. Human Mutation, 22, 43-50.
-
(2003)
Human Mutation
, vol.22
, pp. 43-50
-
-
Mitui, M.1
Campbell, C.2
Coutinho, G.3
-
18
-
-
84857486516
-
Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia- telangiectasia
-
22006793 10.1002/humu.21632
-
Nakamura, K., Du, L., Tunuguntla, R., et al. (2011). Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia- telangiectasia. Human Mutation, 33, 198-208.
-
(2011)
Human Mutation
, vol.33
, pp. 198-208
-
-
Nakamura, K.1
Du, L.2
Tunuguntla, R.3
-
19
-
-
0029057336
-
A single ataxia telangiectasia gene with a product similar to PI-3 kinase
-
7792600 10.1126/science.7792600 1:CAS:528:DyaK2MXmsFCitrs%3D
-
Savitsky, K., Bar-Shira, A., Gilad, S., et al. (1995). A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science, 268, 1749-1753.
-
(1995)
Science
, vol.268
, pp. 1749-1753
-
-
Savitsky, K.1
Bar-Shira, A.2
Gilad, S.3
-
20
-
-
84855891730
-
Characterisation of ATM mutations in Slavic Ataxia telangiectasia patients
-
Soukupova, J., Pohlreich, P., & Seemanova, E. (2011). Characterisation of ATM mutations in Slavic Ataxia telangiectasia patients. NeuroMolecular Medicine, 13, 204-211.
-
(2011)
NeuroMolecular Medicine
, vol.13
, pp. 204-211
-
-
Soukupova, J.1
Pohlreich, P.2
Seemanova, E.3
-
21
-
-
0022992181
-
The incidence and gene frequency of ataxia-telangiectasia in the United States
-
3788973 1:STN:280:DyaL2s%2FntlCgtg%3D%3D
-
Swift, M., Morrell, D., Cromartie, E., Chamberlin, A. R., et al. (1986). The incidence and gene frequency of ataxia-telangiectasia in the United States. American Journal of Human Genetics, 39, 573-583.
-
(1986)
American Journal of Human Genetics
, vol.39
, pp. 573-583
-
-
Swift, M.1
Morrell, D.2
Cromartie, E.3
Chamberlin, A.R.4
-
22
-
-
69449090994
-
Clinical spectrum of ataxia- telangiectasia in adulthood
-
19535770 10.1212/WNL.0b013e3181af33bd 1:STN:280:DC%2BD1MrktlamtQ%3D%3D
-
Verhagen, M. M., Abdo, W. F., Willemsen, M. A., et al. (2009). Clinical spectrum of ataxia- telangiectasia in adulthood. Neurology, 73, 430-437.
-
(2009)
Neurology
, vol.73
, pp. 430-437
-
-
Verhagen, M.M.1
Abdo, W.F.2
Willemsen, M.A.3
-
23
-
-
0033607810
-
Localization of a portion of extranuclear ATM to peroxisomes
-
10567403 10.1074/jbc.274.48.34277 1:CAS:528:DyaK1MXnslOktr0%3D
-
Watters, D., Kedar, P., Spring, K., et al. (1999). Localization of a portion of extranuclear ATM to peroxisomes. Journal of Biological Chemistry, 274, 34277-34282.
-
(1999)
Journal of Biological Chemistry
, vol.274
, pp. 34277-34282
-
-
Watters, D.1
Kedar, P.2
Spring, K.3
-
24
-
-
0029798776
-
A high frequency of distinct ATM gene mutations in ataxia-telangiectasia
-
8808599 1:CAS:528:DyaK28Xmt1Kru7s%3D
-
Wright, J., Teraoka, S., Onengut, S., et al. (1996). A high frequency of distinct ATM gene mutations in ataxia-telangiectasia. American Journal of Human Genetics, 59, 839-846.
-
(1996)
American Journal of Human Genetics
, vol.59
, pp. 839-846
-
-
Wright, J.1
Teraoka, S.2
Onengut, S.3
-
25
-
-
79953183356
-
Autophosphorylation and ATM activation: Additional sites add to the complexity
-
10.1074/jbc.M110.204065 1:CAS:528:DC%2BC3MXjtFOis7o%3D
-
Kozlov, S. V., Graham, M. E., Jakob, B., et al. (2011). Autophosphorylation and ATM activation: Additional sites add to the complexity. World Journal of biological chemistry, 286, 9107-9119.
-
(2011)
World Journal of Biological Chemistry
, vol.286
, pp. 9107-9119
-
-
Kozlov, S.V.1
Graham, M.E.2
Jakob, B.3
-
26
-
-
0035019463
-
The ataxia-telangiectasia gene product may modulate DNA turnover and control cell fate by regulating cellular redox in lymphocytes
-
10.1096/fj.00-0601com 1:CAS:528:DC%2BD3MXlvVOms7w%3D
-
Yan, M., Qiang, W., Liu, N., Shen, J., Lynn, W. S., & Wong, P. K. (2001). The ataxia-telangiectasia gene product may modulate DNA turnover and control cell fate by regulating cellular redox in lymphocytes. The FASEB Journal, 15, 1132-1138.
-
(2001)
The FASEB Journal
, vol.15
, pp. 1132-1138
-
-
Yan, M.1
Qiang, W.2
Liu, N.3
Shen, J.4
Lynn, W.S.5
Wong, P.K.6
-
27
-
-
33746046363
-
ATM controls c-Myc and DNA synthesis during postnatal thymocyte development through regulation of redox state
-
16863997 10.1016/j.freeradbiomed.2006.05.008 1:CAS:528: DC%2BD28XntlCqtL8%3D
-
Yan, M., Zhu, C., Liu, N., et al. (2006). ATM controls c-Myc and DNA synthesis during postnatal thymocyte development through regulation of redox state. Free radical biology and medicine, 41, 640-648.
-
(2006)
Free Radical Biology and Medicine
, vol.41
, pp. 640-648
-
-
Yan, M.1
Zhu, C.2
Liu, N.3
|