-
1
-
-
0029057336
-
A single ataxia telangiectasia gene with a product similar to PI-3 kinase
-
Savitsky K, Bar-Shira A, Gilad S et al. A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science 1995: 268: 1749–1753.
-
(1995)
Science
, vol.268
, pp. 1749-1753
-
-
Savitsky, K.1
Bar-Shira, A.2
Gilad, S.3
-
2
-
-
78651043982
-
Ataxia-telangiectasia; a familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection
-
Boder E, Sedgwick RP. Ataxia-telangiectasia; a familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection. Pediatrics 1958: 21: 526–554.
-
(1958)
Pediatrics
, vol.21
, pp. 526-554
-
-
Boder, E.1
Sedgwick, R.P.2
-
3
-
-
0001183734
-
Ataxia-telangiectasia
-
In, De Jong J, ed., Amsterdam, Elsevier
-
Sedgwick RP, Boder E. Ataxia-telangiectasia. In: De Jong J, ed. Handbook of clinical neurology hereditary neuropathies and spinocerebellar atrophies, Vol. 16. Amsterdam: Elsevier, 1991: 347–423.
-
(1991)
Handbook of clinical neurology hereditary neuropathies and spinocerebellar atrophies
, vol.16
, pp. 347-423
-
-
Sedgwick, R.P.1
Boder, E.2
-
4
-
-
0033380655
-
Cancer risk in ATM heterozygotes: a model of phenotypic and mechanistic differences between missense and truncating mutations
-
Gatti RA, Tward A, Concannon P. Cancer risk in ATM heterozygotes: a model of phenotypic and mechanistic differences between missense and truncating mutations. Mol Genet Metab 1999: 68: 419–423.
-
(1999)
Mol Genet Metab
, vol.68
, pp. 419-423
-
-
Gatti, R.A.1
Tward, A.2
Concannon, P.3
-
5
-
-
0023244806
-
Breast and other cancers in families with ataxia-telangiectasia
-
Swift M, Reitnauer PJ, Morrell D, Chase CL. Breast and other cancers in families with ataxia-telangiectasia. N Engl J Med 1987: 316: 1289–1294.
-
(1987)
N Engl J Med
, vol.316
, pp. 1289-1294
-
-
Swift, M.1
Reitnauer, P.J.2
Morrell, D.3
Chase, C.L.4
-
6
-
-
0032926569
-
Breast cancer risk in ataxia telangiectasia (AT) heterozygotes: haplotype study in French AT families
-
Janin N, Andrieu N, Ossian K et al. Breast cancer risk in ataxia telangiectasia (AT) heterozygotes: haplotype study in French AT families. Br J Cancer 1999: 80: 1042–1045.
-
(1999)
Br J Cancer
, vol.80
, pp. 1042-1045
-
-
Janin, N.1
Andrieu, N.2
Ossian, K.3
-
7
-
-
20544474516
-
Cancer risks and mortality in heterozygous ATM mutation carriers
-
Thompson D, Duedal S, Kirner J et al. Cancer risks and mortality in heterozygous ATM mutation carriers. J Natl Cancer Inst 2005: 97: 813–822.
-
(2005)
J Natl Cancer Inst
, vol.97
, pp. 813-822
-
-
Thompson, D.1
Duedal, S.2
Kirner, J.3
-
8
-
-
84978799887
-
-
Retrieved from
-
AT Society UK: AT Carriers. Retrieved from http://www.atsociety.org.uk/a-t-carriers.
-
-
-
-
10
-
-
84857132924
-
The autosomal recessive cerebellar ataxias
-
Anheim M, Tranchant C, Koenig M. The autosomal recessive cerebellar ataxias. N Engl J Med 2012: 366: 636–646.
-
(2012)
N Engl J Med
, vol.366
, pp. 636-646
-
-
Anheim, M.1
Tranchant, C.2
Koenig, M.3
-
11
-
-
0026409331
-
Incidence of cancer in 161 families affected by ataxia-telangiectasia
-
Swift M, Morrell D, Massey RB, Chase CL. Incidence of cancer in 161 families affected by ataxia-telangiectasia. N Engl J Med 1991: 325: 1831–1836.
-
(1991)
N Engl J Med
, vol.325
, pp. 1831-1836
-
-
Swift, M.1
Morrell, D.2
Massey, R.B.3
Chase, C.L.4
-
12
-
-
84978791137
-
-
The Newcastle-Ottawa Scale (NOS) for Assessing the Quality of Nonrandomized Studies in Meta-Analyses, from
-
Wells GA SB, O'Connell D, Peterson J, Welch V, Losos M, Tugwell P. The Newcastle-Ottawa Scale (NOS) for Assessing the Quality of Nonrandomized Studies in Meta-Analyses 2009, from http://www.ohri.ca/programs/clinical_epidemiology/oxford.asp
-
(2009)
-
-
Wells, G.A.S.B.1
O'Connell, D.2
Peterson, J.3
Welch, V.4
Losos, M.5
Tugwell, P.6
-
14
-
-
43049113533
-
GRADE: an emerging consensus on rating quality of evidence and strength of recommendations
-
Guyatt GH, Oxman AD, Vist GE et al. GRADE: an emerging consensus on rating quality of evidence and strength of recommendations. BMJ 2008: 336: 924–926.
-
(2008)
BMJ
, vol.336
, pp. 924-926
-
-
Guyatt, G.H.1
Oxman, A.D.2
Vist, G.E.3
-
15
-
-
0034700243
-
Mortality rates among carriers of ataxia-telangiectasia mutant alleles
-
Su Y, Swift M. Mortality rates among carriers of ataxia-telangiectasia mutant alleles. Ann Intern Med 2000: 133: 770–778.
-
(2000)
Ann Intern Med
, vol.133
, pp. 770-778
-
-
Su, Y.1
Swift, M.2
-
16
-
-
0022588993
-
Diabetes mellitus in ataxia-telangiectasia, Fanconi anemia, xeroderma pigmentosum, common variable immune deficiency, and severe combined immune deficiency families
-
Morrell D, Chase CL, Kupper LL, Swift M. Diabetes mellitus in ataxia-telangiectasia, Fanconi anemia, xeroderma pigmentosum, common variable immune deficiency, and severe combined immune deficiency families. Diabetes 1986: 35: 143–147.
-
(1986)
Diabetes
, vol.35
, pp. 143-147
-
-
Morrell, D.1
Chase, C.L.2
Kupper, L.L.3
Swift, M.4
-
17
-
-
23644442874
-
Breast and other cancers in 1445 blood relatives of 75 Nordic patients with ataxia telangiectasia
-
Olsen JH, Hahnemann JM, Borresen-Dale AL et al. Breast and other cancers in 1445 blood relatives of 75 Nordic patients with ataxia telangiectasia. Br J Cancer 2005: 93: 260–265.
-
(2005)
Br J Cancer
, vol.93
, pp. 260-265
-
-
Olsen, J.H.1
Hahnemann, J.M.2
Borresen-Dale, A.L.3
-
18
-
-
0035879874
-
Cancer risk in heterozygotes for ataxia-telangiectasia
-
Geoffroy-Perez B, Janin N, Ossian K et al. Cancer risk in heterozygotes for ataxia-telangiectasia. Int J Cancer 2001: 93: 288–293.
-
(2001)
Int J Cancer
, vol.93
, pp. 288-293
-
-
Geoffroy-Perez, B.1
Janin, N.2
Ossian, K.3
-
19
-
-
55849102474
-
Breast cancer incidence and the effect of cigarette smoking in heterozygous carriers of mutations in the ataxia-telangiectasia gene
-
Swift M, Lukin JL. Breast cancer incidence and the effect of cigarette smoking in heterozygous carriers of mutations in the ataxia-telangiectasia gene. Cancer Epidemiol Biomarkers Prev 2008: 17: 3188–3192.
-
(2008)
Cancer Epidemiol Biomarkers Prev
, vol.17
, pp. 3188-3192
-
-
Swift, M.1
Lukin, J.L.2
-
20
-
-
0017238344
-
Malignant neoplasms in the families of patients with ataxia-telangiectasia
-
Swift M, Sholman L, Perry M, Chase CL. Malignant neoplasms in the families of patients with ataxia-telangiectasia. Cancer Res 1976: 36: 209–215.
-
(1976)
Cancer Res
, vol.36
, pp. 209-215
-
-
Swift, M.1
Sholman, L.2
Perry, M.3
Chase, C.L.4
-
21
-
-
0021096730
-
Cancer and cardiac deaths in obligatory ataxia-telangiectasia heterozygotes
-
Swift M, Chase C. Cancer and cardiac deaths in obligatory ataxia-telangiectasia heterozygotes. Lancet 1983: 1: 1049–1050.
-
(1983)
Lancet
, vol.1
, pp. 1049-1050
-
-
Swift, M.1
Chase, C.2
-
22
-
-
0026457889
-
Heterozygous manifestations in four autosomal recessive human cancer-prone syndromes: ataxia telangiectasia, xeroderma pigmentosum, Fanconi anemia, and Bloom syndrome
-
Heim RA, Lench NJ, Swift M. Heterozygous manifestations in four autosomal recessive human cancer-prone syndromes: ataxia telangiectasia, xeroderma pigmentosum, Fanconi anemia, and Bloom syndrome. Mutat Res 1992: 284: 25–36.
-
(1992)
Mutat Res
, vol.284
, pp. 25-36
-
-
Heim, R.A.1
Lench, N.J.2
Swift, M.3
-
23
-
-
0030482567
-
Molecular genotyping shows that ataxia-telangiectasia heterozygotes are predisposed to breast cancer
-
Athma P, Rappaport R, Swift M. Molecular genotyping shows that ataxia-telangiectasia heterozygotes are predisposed to breast cancer. Cancer Genet Cytogenet 1996: 92: 130–134.
-
(1996)
Cancer Genet Cytogenet
, vol.92
, pp. 130-134
-
-
Athma, P.1
Rappaport, R.2
Swift, M.3
-
24
-
-
0025276912
-
Cancer predisposition of ataxia-telangiectasia heterozygotes
-
Swift M, Chase CL, Morrell D. Cancer predisposition of ataxia-telangiectasia heterozygotes. Cancer Genet Cytogenet 1990: 46: 21–27.
-
(1990)
Cancer Genet Cytogenet
, vol.46
, pp. 21-27
-
-
Swift, M.1
Chase, C.L.2
Morrell, D.3
-
25
-
-
0036605052
-
Variation in breast cancer risk of heterozygotes for ataxia-telangiectasia according to environmental factors
-
Geoffroy-Perez B, Janin N, Ossian K et al. Variation in breast cancer risk of heterozygotes for ataxia-telangiectasia according to environmental factors. Int J Cancer 2002: 99: 619–623.
-
(2002)
Int J Cancer
, vol.99
, pp. 619-623
-
-
Geoffroy-Perez, B.1
Janin, N.2
Ossian, K.3
-
26
-
-
17344362697
-
ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer
-
Stankovic T, Kidd AM, Sutcliffe A et al. ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer. Am J Hum Genet 1998: 62: 334–345.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 334-345
-
-
Stankovic, T.1
Kidd, A.M.2
Sutcliffe, A.3
-
27
-
-
33750904243
-
Population-based estimates of breast cancer risks associated with ATM gene variants c.7271 T > G and c.1066-6 T > G (IVS10-6 T > G) from the Breast Cancer Family Registry
-
Bernstein JL, Teraoka S, Southey MC et al. Population-based estimates of breast cancer risks associated with ATM gene variants c.7271 T > G and c.1066-6 T > G (IVS10-6 T > G) from the Breast Cancer Family Registry. Hum Mutat 2006: 27: 1122–1128.
-
(2006)
Hum Mutat
, vol.27
, pp. 1122-1128
-
-
Bernstein, J.L.1
Teraoka, S.2
Southey, M.C.3
-
28
-
-
84978844406
-
-
(Comprehensive Cancer Centre the Netherlands), Knowledge Institute of Medical Specialists (KiMS) and National Breast cancer Organization the Netherlands (NABON); Breast cancer Dutch Guideline, version 2.0., from
-
IKNL (Comprehensive Cancer Centre the Netherlands), Knowledge Institute of Medical Specialists (KiMS) and National Breast cancer Organization the Netherlands (NABON); Breast cancer: Dutch Guideline, version 2.0. 2012, from http://www.oncoline.nl/breastcancer
-
(2012)
-
-
-
30
-
-
0242574702
-
ATM variants 7271 T > G and IVS10-6 T > G among women with unilateral and bilateral breast cancer
-
Bernstein JL, Bernstein L, Thompson WD et al. ATM variants 7271 T > G and IVS10-6 T > G among women with unilateral and bilateral breast cancer. Br J Cancer 2003: 89: 1513–1516.
-
(2003)
Br J Cancer
, vol.89
, pp. 1513-1516
-
-
Bernstein, J.L.1
Bernstein, L.2
Thompson, W.D.3
-
31
-
-
70350490327
-
Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer
-
Tavtigian SV, Oefner PJ, Babikyan D et al. Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer. Am J Hum Genet 2009: 85: 427–446.
-
(2009)
Am J Hum Genet
, vol.85
, pp. 427-446
-
-
Tavtigian, S.V.1
Oefner, P.J.2
Babikyan, D.3
-
32
-
-
33746491583
-
ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles
-
Renwick A, Thompson D, Seal S et al. ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. Nat Genet 2006: 38: 873–875.
-
(2006)
Nat Genet
, vol.38
, pp. 873-875
-
-
Renwick, A.1
Thompson, D.2
Seal, S.3
-
33
-
-
34250188802
-
Common variants in the ATM, BRCA1, BRCA2, CHEK2 and TP53 cancer susceptibility genes are unlikely to increase breast cancer risk
-
Baynes C, Healey CS, Pooley KA et al. Common variants in the ATM, BRCA1, BRCA2, CHEK2 and TP53 cancer susceptibility genes are unlikely to increase breast cancer risk. Breast Cancer Res 2007: 9: R27.
-
(2007)
Breast Cancer Res
, vol.9
, pp. R27
-
-
Baynes, C.1
Healey, C.S.2
Pooley, K.A.3
-
34
-
-
0031029676
-
Heterozygous ATM mutations do not contribute to early onset of breast cancer
-
FitzGerald MG, Bean JM, Hegde SR et al. Heterozygous ATM mutations do not contribute to early onset of breast cancer. Nat Genet 1997: 15: 307–310.
-
(1997)
Nat Genet
, vol.15
, pp. 307-310
-
-
FitzGerald, M.G.1
Bean, J.M.2
Hegde, S.R.3
-
35
-
-
0032054221
-
The role of ataxia-telangiectasia heterozygotes in familial breast cancer
-
Chen J, Birkholtz GG, Lindblom P, Rubio C, Lindblom A. The role of ataxia-telangiectasia heterozygotes in familial breast cancer. Cancer Res 1998: 58: 1376–1379.
-
(1998)
Cancer Res
, vol.58
, pp. 1376-1379
-
-
Chen, J.1
Birkholtz, G.G.2
Lindblom, P.3
Rubio, C.4
Lindblom, A.5
-
36
-
-
0032778345
-
Absence of mutations in the ATM gene in forty-seven cases of sporadic breast cancer
-
Bebb DG, Yu Z, Chen J et al. Absence of mutations in the ATM gene in forty-seven cases of sporadic breast cancer. Br J Cancer 1999: 80: 1979–1981.
-
(1999)
Br J Cancer
, vol.80
, pp. 1979-1981
-
-
Bebb, D.G.1
Yu, Z.2
Chen, J.3
-
37
-
-
0033909670
-
Ataxia-telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity
-
Becker-Catania SG, Chen G, Hwang MJ et al. Ataxia-telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity. Mol Genet Metab 2000: 70: 122–133.
-
(2000)
Mol Genet Metab
, vol.70
, pp. 122-133
-
-
Becker-Catania, S.G.1
Chen, G.2
Hwang, M.J.3
-
38
-
-
0033153140
-
Defective control of apoptosis and mitotic spindle checkpoint in heterozygous carriers of ATM mutations
-
Shigeta T, Takagi M, Delia D et al. Defective control of apoptosis and mitotic spindle checkpoint in heterozygous carriers of ATM mutations. Cancer Res 1999: 59: 2602–2607.
-
(1999)
Cancer Res
, vol.59
, pp. 2602-2607
-
-
Shigeta, T.1
Takagi, M.2
Delia, D.3
-
39
-
-
0034074467
-
ATM protein and p53-serine 15 phosphorylation in ataxia-telangiectasia (AT) patients and at heterozygotes
-
Delia D, Mizutani S, Panigone S et al. ATM protein and p53-serine 15 phosphorylation in ataxia-telangiectasia (AT) patients and at heterozygotes. Br J Cancer 2000: 82: 1938–1945.
-
(2000)
Br J Cancer
, vol.82
, pp. 1938-1945
-
-
Delia, D.1
Mizutani, S.2
Panigone, S.3
-
40
-
-
0018259929
-
Identification of ataxia telangiectasia heterozygotes, a cancer prone population
-
Chen PC, Lavin MF, Kidson C, Moss D. Identification of ataxia telangiectasia heterozygotes, a cancer prone population. Nature 1978: 274: 484–486.
-
(1978)
Nature
, vol.274
, pp. 484-486
-
-
Chen, P.C.1
Lavin, M.F.2
Kidson, C.3
Moss, D.4
-
41
-
-
0018697568
-
Enhanced radiosensitivity of cultured fibroblasts from ataxia telangiectasia heterozygotes manifested by defective colony-forming ability and reduced DNA repair replication after hypoxic gamma-irradiation
-
Paterson MC, Anderson AK, Smith BP, Smith PJ. Enhanced radiosensitivity of cultured fibroblasts from ataxia telangiectasia heterozygotes manifested by defective colony-forming ability and reduced DNA repair replication after hypoxic gamma-irradiation. Cancer Res 1979: 39: 3725–3734.
-
(1979)
Cancer Res
, vol.39
, pp. 3725-3734
-
-
Paterson, M.C.1
Anderson, A.K.2
Smith, B.P.3
Smith, P.J.4
-
42
-
-
15844380745
-
Breast cancer and radiotherapy in ataxia-telangiectasia heterozygote
-
Ramsay J, Birrell G, Lavin M. Breast cancer and radiotherapy in ataxia-telangiectasia heterozygote. Lancet 1996: 347: 1627.
-
(1996)
Lancet
, vol.347
, pp. 1627
-
-
Ramsay, J.1
Birrell, G.2
Lavin, M.3
-
43
-
-
0032948849
-
Atm haploinsufficiency results in increased sensitivity to sublethal doses of ionizing radiation in mice
-
Barlow C, Eckhaus MA, Schaffer AA, Wynshaw-Boris A. Atm haploinsufficiency results in increased sensitivity to sublethal doses of ionizing radiation in mice. Nat Genet 1999: 21: 359–360.
-
(1999)
Nat Genet
, vol.21
, pp. 359-360
-
-
Barlow, C.1
Eckhaus, M.A.2
Schaffer, A.A.3
Wynshaw-Boris, A.4
-
44
-
-
0037162312
-
Atm heterozygous mice are more sensitive to radiation-induced cataracts than are their wild-type counterparts
-
Worgul BV, Smilenov L, Brenner DJ, Junk A, Zhou W, Hall EJ. Atm heterozygous mice are more sensitive to radiation-induced cataracts than are their wild-type counterparts. Proc Natl Acad Sci U S A 2002: 99: 9836–9839.
-
(2002)
Proc Natl Acad Sci U S A
, vol.99
, pp. 9836-9839
-
-
Worgul, B.V.1
Smilenov, L.2
Brenner, D.J.3
Junk, A.4
Zhou, W.5
Hall, E.J.6
-
45
-
-
0032412555
-
Radiosensitivity of normal tissues in ataxia-telangiectasia heterozygotes
-
Weissberg JB, Huang DD, Swift M. Radiosensitivity of normal tissues in ataxia-telangiectasia heterozygotes. Int J Radiat Oncol Biol Phys 1998: 42: 1133–1136.
-
(1998)
Int J Radiat Oncol Biol Phys
, vol.42
, pp. 1133-1136
-
-
Weissberg, J.B.1
Huang, D.D.2
Swift, M.3
-
46
-
-
0345107249
-
Clinical radiosensitivity in breast cancer patients carrying pathogenic ATM gene mutations: no observation of increased radiation-induced acute or late effects
-
Bremer M, Klopper K, Yamini P, Bendix-Waltes R, Dork T, Karstens JH. Clinical radiosensitivity in breast cancer patients carrying pathogenic ATM gene mutations: no observation of increased radiation-induced acute or late effects. Radiother Oncol 2003: 69: 155–160.
-
(2003)
Radiother Oncol
, vol.69
, pp. 155-160
-
-
Bremer, M.1
Klopper, K.2
Yamini, P.3
Bendix-Waltes, R.4
Dork, T.5
Karstens, J.H.6
-
47
-
-
0035860970
-
Outcomes of adjuvant radiation therapy for breast cancer in women with ataxia-telangiectasia mutations
-
Su Y, Swift M. Outcomes of adjuvant radiation therapy for breast cancer in women with ataxia-telangiectasia mutations. JAMA 2001: 286: 2233–2234.
-
(2001)
JAMA
, vol.286
, pp. 2233-2234
-
-
Su, Y.1
Swift, M.2
-
48
-
-
0042844840
-
Idiopathic and radiation-induced ocular telangiectasia: the involvement of the ATM gene
-
Mauget-Faysse M, Vuillaume M, Quaranta M et al. Idiopathic and radiation-induced ocular telangiectasia: the involvement of the ATM gene. Invest Ophthalmol Vis Sci 2003: 44: 3257–3262.
-
(2003)
Invest Ophthalmol Vis Sci
, vol.44
, pp. 3257-3262
-
-
Mauget-Faysse, M.1
Vuillaume, M.2
Quaranta, M.3
-
49
-
-
53149095822
-
ATM gene variants in patients with idiopathic perifoveal telangiectasia
-
Barbazetto IA, Room M, Yannuzzi NA et al. ATM gene variants in patients with idiopathic perifoveal telangiectasia. Invest Ophthalmol Vis Sci 2008: 49: 3806–3811.
-
(2008)
Invest Ophthalmol Vis Sci
, vol.49
, pp. 3806-3811
-
-
Barbazetto, I.A.1
Room, M.2
Yannuzzi, N.A.3
-
50
-
-
84887421348
-
Variation in telangiectasia predisposing genes is associated with overall radiation toxicity
-
Tanteles GA, Murray RJ, Mills J et al. Variation in telangiectasia predisposing genes is associated with overall radiation toxicity. Int J Radiat Oncol Biol Phys 2012: 84: 1031–1036.
-
(2012)
Int J Radiat Oncol Biol Phys
, vol.84
, pp. 1031-1036
-
-
Tanteles, G.A.1
Murray, R.J.2
Mills, J.3
-
51
-
-
84858144480
-
Low expression levels of ATM may substitute for CHEK2 /TP53 mutations predicting resistance towards anthracycline and mitomycin chemotherapy in breast cancer
-
Knappskog S, Chrisanthar R, Lokkevik E et al. Low expression levels of ATM may substitute for CHEK2 /TP53 mutations predicting resistance towards anthracycline and mitomycin chemotherapy in breast cancer. Breast Cancer Res 2012: 14: R47.
-
(2012)
Breast Cancer Res
, vol.14
, pp. R47
-
-
Knappskog, S.1
Chrisanthar, R.2
Lokkevik, E.3
-
52
-
-
67650627436
-
Explorative study to identify novel candidate genes related to oxaliplatin efficacy and toxicity using a DNA repair array
-
Kweekel DM, Antonini NF, Nortier JW, Punt CJ, Gelderblom H, Guchelaar HJ. Explorative study to identify novel candidate genes related to oxaliplatin efficacy and toxicity using a DNA repair array. Br J Cancer 2009: 101: 357–362.
-
(2009)
Br J Cancer
, vol.101
, pp. 357-362
-
-
Kweekel, D.M.1
Antonini, N.F.2
Nortier, J.W.3
Punt, C.J.4
Gelderblom, H.5
Guchelaar, H.J.6
-
53
-
-
77958511649
-
DNA damage links mitochondrial dysfunction to atherosclerosis and the metabolic syndrome
-
Mercer JR, Cheng KK, Figg N et al. DNA damage links mitochondrial dysfunction to atherosclerosis and the metabolic syndrome. Circ Res 2010: 107: 1021–1031.
-
(2010)
Circ Res
, vol.107
, pp. 1021-1031
-
-
Mercer, J.R.1
Cheng, K.K.2
Figg, N.3
-
54
-
-
24744436438
-
Heterozygous mutation of ataxia-telangiectasia mutated gene aggravates hypercholesterolemia in apoE-deficient mice
-
Wu D, Yang H, Xiang W et al. Heterozygous mutation of ataxia-telangiectasia mutated gene aggravates hypercholesterolemia in apoE-deficient mice. J Lipid Res 2005: 46: 1380–1387.
-
(2005)
J Lipid Res
, vol.46
, pp. 1380-1387
-
-
Wu, D.1
Yang, H.2
Xiang, W.3
-
55
-
-
48449101041
-
ATM gene mutations result in both recessive and dominant expression phenotypes of genes and microRNAs
-
Smirnov DA, Cheung VG. ATM gene mutations result in both recessive and dominant expression phenotypes of genes and microRNAs. Am J Hum Genet 2008: 83: 243–253.
-
(2008)
Am J Hum Genet
, vol.83
, pp. 243-253
-
-
Smirnov, D.A.1
Cheung, V.G.2
-
56
-
-
84892659200
-
Deficiency of ataxia telangiectasia mutated kinase modulates cardiac remodeling following myocardial infarction: involvement in fibrosis and apoptosis
-
Foster CR, Daniel LL, Daniels CR, Dalal S, Singh M, Singh K. Deficiency of ataxia telangiectasia mutated kinase modulates cardiac remodeling following myocardial infarction: involvement in fibrosis and apoptosis. PLoS One 2013: 8: e83513.
-
(2013)
PLoS One
, vol.8
-
-
Foster, C.R.1
Daniel, L.L.2
Daniels, C.R.3
Dalal, S.4
Singh, M.5
Singh, K.6
-
57
-
-
33750449351
-
ATM-dependent suppression of stress signaling reduces vascular disease in metabolic syndrome
-
Schneider JG, Finck BN, Ren J et al. ATM-dependent suppression of stress signaling reduces vascular disease in metabolic syndrome. Cell Metab 2006: 4: 377–389.
-
(2006)
Cell Metab
, vol.4
, pp. 377-389
-
-
Schneider, J.G.1
Finck, B.N.2
Ren, J.3
-
58
-
-
0142123580
-
Late degeneration of nigro-striatal neurons in ATM−/− mice
-
Eilam R, Peter Y, Groner Y, Segal M. Late degeneration of nigro-striatal neurons in ATM−/− mice. Neuroscience 2003: 121: 83–98.
-
(2003)
Neuroscience
, vol.121
, pp. 83-98
-
-
Eilam, R.1
Peter, Y.2
Groner, Y.3
Segal, M.4
-
59
-
-
1342333775
-
Cell cycle activation linked to neuronal cell death initiated by DNA damage
-
Kruman II, Wersto RP, Cardozo-Pelaez F et al. Cell cycle activation linked to neuronal cell death initiated by DNA damage. Neuron 2004: 41: 549–561.
-
(2004)
Neuron
, vol.41
, pp. 549-561
-
-
Kruman, I.I.1
Wersto, R.P.2
Cardozo-Pelaez, F.3
-
60
-
-
0037428712
-
Reduced NMDA-induced apoptosis in neurons lacking ataxia telangiectasia mutated protein
-
Macleod MR, Ramage L, McGregor A, Seckl JR. Reduced NMDA-induced apoptosis in neurons lacking ataxia telangiectasia mutated protein. Neuroreport 2003: 14: 215–217.
-
(2003)
Neuroreport
, vol.14
, pp. 215-217
-
-
Macleod, M.R.1
Ramage, L.2
McGregor, A.3
Seckl, J.R.4
-
61
-
-
78149467894
-
Activation of ataxia telangiectasia muted under experimental models and human Parkinson's disease
-
Camins A, Pizarro JG, Alvira D et al. Activation of ataxia telangiectasia muted under experimental models and human Parkinson's disease. Cell Mol Life Sci 2010: 67: 3865–3882.
-
(2010)
Cell Mol Life Sci
, vol.67
, pp. 3865-3882
-
-
Camins, A.1
Pizarro, J.G.2
Alvira, D.3
-
62
-
-
14944346310
-
Loss of neuronal cell cycle control in ataxia-telangiectasia: a unified disease mechanism
-
Yang Y, Herrup K. Loss of neuronal cell cycle control in ataxia-telangiectasia: a unified disease mechanism. J Neurosci 2005: 25: 2522–2529.
-
(2005)
J Neurosci
, vol.25
, pp. 2522-2529
-
-
Yang, Y.1
Herrup, K.2
-
63
-
-
84901411227
-
Brain glucose metabolism in adults with ataxia-telangiectasia and their asymptomatic relatives
-
Volkow ND, Tomasi D, Wang GJ, Studentsova Y, Margus B, Crawford TO. Brain glucose metabolism in adults with ataxia-telangiectasia and their asymptomatic relatives. Brain 2014: 137: 1753–1761.
-
(2014)
Brain
, vol.137
, pp. 1753-1761
-
-
Volkow, N.D.1
Tomasi, D.2
Wang, G.J.3
Studentsova, Y.4
Margus, B.5
Crawford, T.O.6
-
64
-
-
15844426692
-
Atm-deficient mice: a paradigm of ataxia telangiectasia
-
Barlow C, Hirotsune S, Paylor R et al. Atm-deficient mice: a paradigm of ataxia telangiectasia. Cell 1996: 86: 159–171.
-
(1996)
Cell
, vol.86
, pp. 159-171
-
-
Barlow, C.1
Hirotsune, S.2
Paylor, R.3
-
65
-
-
84866445314
-
Loss of ATM kinase activity leads to embryonic lethality in mice
-
Daniel JA, Pellegrini M, Lee BS et al. Loss of ATM kinase activity leads to embryonic lethality in mice. J Cell Biol 2012: 198: 295–304.
-
(2012)
J Cell Biol
, vol.198
, pp. 295-304
-
-
Daniel, J.A.1
Pellegrini, M.2
Lee, B.S.3
-
66
-
-
0016832693
-
Ataxia-telangiectasia: some historic, clinical and pathologic observations
-
Boder E. Ataxia-telangiectasia: some historic, clinical and pathologic observations. Birth Defects Orig Artic Ser 1975: 11: 255–270.
-
(1975)
Birth Defects Orig Artic Ser
, vol.11
, pp. 255-270
-
-
Boder, E.1
-
67
-
-
84978860324
-
-
Retrieved from
-
American Society of Clinical Oncology (ASCO): Ataxia-Telangiectasia 2014, Retrieved from http://www.cancer.net/cancer-types/ataxia-telangiectasia
-
(2014)
-
-
-
68
-
-
84978920675
-
-
Retrieved from
-
USA National Cancer Institute (NCI): Ataxia Telangiectasia 2006, Retrieved from http://www.cancer.gov/about-cancer/causes-prevention/genetics/ataxia-fact-sheet#q12
-
(2006)
-
-
|