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1
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0029002103
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Ataxia-telangiectasia: Closer to unraveling the mystery
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Shiloh Y. Ataxia-telangiectasia: closer to unraveling the mystery. Eur J Hum Genet. 3:1995;116-138.
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(1995)
Eur J Hum Genet
, vol.3
, pp. 116-138
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Shiloh, Y.1
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2
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0028880649
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Ataxia-telangiectasia and cellular response to DNA damage
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Meyn MS. Ataxia-telangiectasia and cellular response to DNA damage. Cancer Res. 55:1995;5591-6001.
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(1995)
Cancer Res
, vol.55
, pp. 5591-6001
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Meyn, M.S.1
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3
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0002590341
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Ataxia-telangiectasia. A familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection. A preliminary report on 7 children, an autopsy, and a case history
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Boder E, Sedgwick RP. Ataxia-telangiectasia. A familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection. A preliminary report on 7 children, an autopsy, and a case history. Univ Sth Calif Med Bull. 9:1957;15-28.
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(1957)
Univ Sth Calif Med Bull
, vol.9
, pp. 15-28
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Boder, E.1
Sedgwick, R.P.2
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4
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0029063634
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Genetic immunodeficiencies: Cutaneous manifestations and recent progress
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Arbiser JL. Genetic immunodeficiencies: cutaneous manifestations and recent progress. J Am Acad Dermatol. 33:1995;82-89.
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(1995)
J Am Acad Dermatol
, vol.33
, pp. 82-89
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Arbiser, J.L.1
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6
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0018888601
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Mitogen receptor redistribution defects and concomitant absence of blastogenesis in ataxia-telangiectasia T lymphocytes
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O'Connor RD, Scott-Linthicum D. Mitogen receptor redistribution defects and concomitant absence of blastogenesis in ataxia-telangiectasia T lymphocytes. Clin Immun Immunopath. 15:1980;66-75.
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(1980)
Clin Immun Immunopath
, vol.15
, pp. 66-75
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O'Connor, R.D.1
Scott-Linthicum, D.2
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7
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0029117261
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Neuroimmunodegeneration: Do neurons and T cells use common pathways for cell death?
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Lynn WS, Wong PK. Neuroimmunodegeneration: do neurons and T cells use common pathways for cell death? FASEB J. 12:1995;1147-1156.
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(1995)
FASEB J
, vol.12
, pp. 1147-1156
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Lynn, W.S.1
Wong, P.K.2
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8
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0029057336
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A single ataxia-telangiectasia gene with a product similar to PI3-kinase
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of outstanding interest. A description of the cloning of a single gene, ATM, mutated in all complementation groups of A-T. A partial cDNA clone 5.9 kb in size was isolated and its product was shown to have a region of homology to the PI3-kinase family of proteins that are involved in DNA damage response mitogenic signalling and protein sorting. Mutations were distributed along the length of the cDNA and were predicted to give rise to protein truncations predominantly.
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Savitsky K, Bar-Shira A, Gilad S, Rotman G, Ziv Y, Vanagaite L, Tagle DA, Smith S, Uziel T, Sfez S, et al. A single ataxia-telangiectasia gene with a product similar to PI3-kinase. of outstanding interest Science. 268:1995;1749-1753 A description of the cloning of a single gene, ATM, mutated in all complementation groups of A-T. A partial cDNA clone 5.9 kb in size was isolated and its product was shown to have a region of homology to the PI3-kinase family of proteins that are involved in DNA damage response mitogenic signalling and protein sorting. Mutations were distributed along the length of the cDNA and were predicted to give rise to protein truncations predominantly.
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(1995)
Science
, vol.268
, pp. 1749-1753
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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
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9
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0028876144
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Expression of c-myc oncoprotein in chronic T cell leukemias
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Maljaie SH, Brito-Bapapulle V, Matutes E, Hiorns LR, De-Schouwer PJ, Catovsky D. Expression of c-myc oncoprotein in chronic T cell leukemias. Leukemia. 9:1995;1694-1699.
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(1995)
Leukemia
, vol.9
, pp. 1694-1699
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Maljaie, S.H.1
Brito-Bapapulle, V.2
Matutes, E.3
Hiorns, L.R.4
De-Schouwer, P.J.5
Catovsky, D.6
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10
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0029007320
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Evidence of a chromatin basis for increased mutagen sensitivity associated with multiple primary malignancies of the head and neck
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Pandita TK, Hittleman WN. Evidence of a chromatin basis for increased mutagen sensitivity associated with multiple primary malignancies of the head and neck. Int J Cancer. 5:1995;738-743.
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(1995)
Int J Cancer
, vol.5
, pp. 738-743
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Pandita, T.K.1
Hittleman, W.N.2
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11
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0028980925
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Chromosome end associations, telomeres and telomerase activity in ataxia-telangiectasia cells
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of special interest. This paper describes chromosome behaviour and telomeres in A-T cells. High frequencies of chromosome end associations, both at metaphase and interphase, were observed in A-T cells compared to controls. These cells also showed higher frequencies of chromosomal breaks and fewer telomeric signals, indicative of shortened telomeres. It is suggested that a deficiency in telomere - nuclear matrix interactions may contribute to the telomere associations in A-T.
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Pandita TK, Pathak S, Geard C. Chromosome end associations, telomeres and telomerase activity in ataxia-telangiectasia cells. of special interest Cytogenet Cell Genet. 71:1995;86-93 This paper describes chromosome behaviour and telomeres in A-T cells. High frequencies of chromosome end associations, both at metaphase and interphase, were observed in A-T cells compared to controls. These cells also showed higher frequencies of chromosomal breaks and fewer telomeric signals, indicative of shortened telomeres. It is suggested that a deficiency in telomere - nuclear matrix interactions may contribute to the telomere associations in A-T.
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(1995)
Cytogenet Cell Genet
, vol.71
, pp. 86-93
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Pandita, T.K.1
Pathak, S.2
Geard, C.3
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13
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0029664616
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Rad-dependent response of the chk1- encoded protein kinase at the DNA damage checkpoint
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Walworth NC, Bernands R. rad-dependent response of the chk1- encoded protein kinase at the DNA damage checkpoint. Science. 271:1996;353-356.
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(1996)
Science
, vol.271
, pp. 353-356
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Walworth, N.C.1
Bernands, R.2
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14
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0028213350
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Radiosensitivity in ataxia-telangiectasia: Anomalies in radiation-induced cell cycle delay
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Beamish H, Lavin MF. Radiosensitivity in ataxia-telangiectasia: anomalies in radiation-induced cell cycle delay. Int J Radiat Biol. 65:1994;175-184.
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(1994)
Int J Radiat Biol
, vol.65
, pp. 175-184
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Beamish, H.1
Lavin, M.F.2
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15
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0026496885
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A mammalian cell cycle checkpoint pathway utilizing p53 and GADD45 is defective in ataxia-telangiectasia
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Kasten MB, Zhan O, Deiry-El WS, Carrier F, Jacks T, Walsh WV, Plunkett BS, Vogelstein B, Fornace AJ. A mammalian cell cycle checkpoint pathway utilizing p53 and GADD45 is defective in ataxia-telangiectasia. Cell. 71:1992;587-597.
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(1992)
Cell
, vol.71
, pp. 587-597
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Kasten, M.B.1
Zhan, O.2
Deiry-El, W.S.3
Carrier, F.4
Jacks, T.5
Walsh, W.V.6
Plunkett, B.S.7
Vogelstein, B.8
Fornace, A.J.9
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16
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0027486024
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Ionizing radiation and UV induction of p53 protein by different pathways in ataxia-telangiectasia cells
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Khanna KK, Lavin MF. Ionizing radiation and UV induction of p53 protein by different pathways in ataxia-telangiectasia cells. Oncogene. 8:1993;3307-3312.
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(1993)
Oncogene
, vol.8
, pp. 3307-3312
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Khanna, K.K.1
Lavin, M.F.2
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17
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0027332996
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Differential induction of transcriptionally active p53 following UV or ionizing radiation: Defects in chromosome instability syndromes?
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Lu X, Lane DP. Differential induction of transcriptionally active p53 following UV or ionizing radiation: defects in chromosome instability syndromes? Cell. 75:1993;765-778.
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(1993)
Cell
, vol.75
, pp. 765-778
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Lu, X.1
Lane, D.P.2
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18
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0028788337
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The role of the ataxia-telangiectasia gene in the p53, WAF1/CIPI(p21) GADD45-mediated response to DNA damage produced by ionizing radiation
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Artuso M, Esteve A, Bresil H, Vuillaume M, Hall J. The role of the ataxia-telangiectasia gene in the p53, WAF1/CIPI(p21) GADD45-mediated response to DNA damage produced by ionizing radiation. Oncogene. 8:1995;1427-1435.
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(1995)
Oncogene
, vol.8
, pp. 1427-1435
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Artuso, M.1
Esteve, A.2
Bresil, H.3
Vuillaume, M.4
Hall, J.5
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19
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0028810807
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Characterization of the signal transduction pathway mediating γ ray-induced inhibition of DNA synthesis in human cells: Indirect evidence for involvement of calmodulin but not protein kinase C nor p53
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1/S checkpoint and during S phase.
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1/S checkpoint and during S phase.
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(1995)
Oncogene
, vol.8
, pp. 1597-1605
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Mirzayans, R.1
Famulski, K.S.2
Enns, L.3
Fraser, M.4
Paterson, M.C.5
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20
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0029093638
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1/S cell cycle checkpoint defect in ataxia-telangiectasia
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of outstanding interest. An extension of data on the p53 defect in A-T. The reduced and/or delayed induction of p53 in A-T cells is also reflected at the functional level as determined by DNA-binding activity, transactivation and transfection with wild-type p53. The radiation-activated signal transduction pathway operating through p53, its target gene WAF1/CiP1 (p21), cyclin-dependent kinases and the retinoblastoma protein substrate is defective in A-T cells.
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1/S cell cycle checkpoint defect in ataxia-telangiectasia. of outstanding interest Oncogene. 11:1995;609-618 An extension of data on the p53 defect in A-T. The reduced and/or delayed induction of p53 in A-T cells is also reflected at the functional level as determined by DNA-binding activity, transactivation and transfection with wild-type p53. The radiation-activated signal transduction pathway operating through p53, its target gene WAF1/CiP1 (p21), cyclin-dependent kinases and the retinoblastoma protein substrate is defective in A-T cells.
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(1995)
Oncogene
, vol.11
, pp. 609-618
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-
Khanna, K.K.1
Beamish, H.2
Yan, J.3
Hobson, K.4
Williams, R.5
Dunn, I.6
Lavin, M.F.7
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21
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0029829249
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Defect in multiple cell cycle checkpoints in ataxia-telangiectasia post-irradiation
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in press
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Beamish H, Williams R, Chen H, Lavin MF. Defect in multiple cell cycle checkpoints in ataxia-telangiectasia post-irradiation. in press J Biol Chem. 1996.
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(1996)
J Biol Chem
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Beamish, H.1
Williams, R.2
Chen, H.3
Lavin, M.F.4
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22
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0029112667
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The product of the ataxia-telangiectasia group D complementing gene, ATDC, interacts with a protein kinase C substrate and inhibitor
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Brzoska PM, Chen H, Zhu Y, Levin NA, Disatnik MH, Mochly-Rosen D, Murnane JP, Christman MF. The product of the ataxia-telangiectasia group D complementing gene, ATDC, interacts with a protein kinase C substrate and inhibitor. Proc Natl Acad Sci USA. 92:1995;7824-7828.
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(1995)
Proc Natl Acad Sci USA
, vol.92
, pp. 7824-7828
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Brzoska, P.M.1
Chen, H.2
Zhu, Y.3
Levin, N.A.4
Disatnik, M.H.5
Mochly-Rosen, D.6
Murnane, J.P.7
Christman, M.F.8
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23
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0029134790
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Defective induction of stress-activated protein kinase activity in ataxia-telangiectasia cells exposed to ionizing radiation
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Shafman TD, Saleem A, Kyriakis J, Weichselbaum R, Kharbanda S, Kufe DW. Defective induction of stress-activated protein kinase activity in ataxia-telangiectasia cells exposed to ionizing radiation. Cancer Res. 55:1995;3242-3245.
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(1995)
Cancer Res
, vol.55
, pp. 3242-3245
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Shafman, T.D.1
Saleem, A.2
Kyriakis, J.3
Weichselbaum, R.4
Kharbanda, S.5
Kufe, D.W.6
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24
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0029147929
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Human cDNA clones that complement the radiomimetic sensitivity of ataxia-telangiectasia (group A) cells
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Ziv Y, Bar-Shira A, Jorgensen TJ, Russell PS, Sartiel A, Shows TB, Eddy RL, Buchwald M, Legerski R, Scimke RT, Shiloh Y. Human cDNA clones that complement the radiomimetic sensitivity of ataxia-telangiectasia (group A) cells. Somatic Cell Mol Genet. 21:1995;99-111.
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(1995)
Somatic Cell Mol Genet
, vol.21
, pp. 99-111
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Ziv, Y.1
Bar-Shira, A.2
Jorgensen, T.J.3
Russell, P.S.4
Sartiel, A.5
Shows, T.B.6
Eddy, R.L.7
Buchwald, M.8
Legerski, R.9
Scimke, R.T.10
Shiloh, Y.11
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25
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0029972581
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Genetic complementation of radiation responses by 3 untranslated regions (UTR) of RNA
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in press
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Chen P, Girjes AA, Hobson K, Beamish H, Khanna KK, Farrell A, Gatei M, Teale B, Buchwald M, Legerski R, Lavin MF. Genetic complementation of radiation responses by 3 untranslated regions (UTR) of RNA. in press Int J Radial Biol. 1996.
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(1996)
Int J Radial Biol
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-
Chen, P.1
Girjes, A.A.2
Hobson, K.3
Beamish, H.4
Khanna, K.K.5
Farrell, A.6
Gatei, M.7
Teale, B.8
Buchwald, M.9
Legerski, R.10
Lavin, M.F.11
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26
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0029061587
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Correction of radiation sensitivity in ataxia-telangiectasia cells by a truncated I kappa B-alpha
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Jung M, Zhang Y, Lee S, Dritschilo A. Correction of radiation sensitivity in ataxia-telangiectasia cells by a truncated I kappa B-alpha. Science. 268:1995;1619-1621.
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(1995)
Science
, vol.268
, pp. 1619-1621
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Jung, M.1
Zhang, Y.2
Lee, S.3
Dritschilo, A.4
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27
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0024205754
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Localization of an ataxia-telangiectasia gene to chromosome 11q22-23
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Gatti RA, Berkel I, Boder E, Braedt G, Charmley P, Concannon P, Ersoy F, Foroud T, Jaspers NGJ, Lange K. Localization of an ataxia-telangiectasia gene to chromosome 11q22-23. Nature. 336:1988;577-580.
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(1988)
Nature
, vol.336
, pp. 577-580
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-
Gatti, R.A.1
Berkel, I.2
Boder, E.3
Braedt, G.4
Charmley, P.5
Concannon, P.6
Ersoy, F.7
Foroud, T.8
Jaspers, N.G.J.9
Lange, K.10
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28
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0029014436
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Localization of an ataxia-telangiectasia gene to a 850 kb interval on chromosome 11q23.1 by linkage analysis of 176 families in an international consortium
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of special interest. In this study, the results of linkage analysis with 176 families favour the presence of severel A-T genes in a cluster in the region of 11q22-23, or possibly intragenic defects in a single gene. These results point to the localization of the A-T gene within a 500 kb region between the microsatellite markers S1819 and S1294.
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Lange E, Borreson A-L, Chen X, Chessa L, Chiplunkar S, Concannon P, Dandekar S, Gerken S, Lange K, Liang T, et al. Localization of an ataxia-telangiectasia gene to a 850 kb interval on chromosome 11q23.1 by linkage analysis of 176 families in an international consortium. of special interest Am J Hum Genet. 57:1995;112-119 In this study, the results of linkage analysis with 176 families favour the presence of severel A-T genes in a cluster in the region of 11q22-23, or possibly intragenic defects in a single gene. These results point to the localization of the A-T gene within a 500 kb region between the microsatellite markers S1819 and S1294.
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(1995)
Am J Hum Genet
, vol.57
, pp. 112-119
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Lange, E.1
Borreson A-L2
Chen, X.3
Chessa, L.4
Chiplunkar, S.5
Concannon, P.6
Dandekar, S.7
Gerken, S.8
Lange, K.9
Liang, T.10
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29
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0028907530
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A high-density microsatellite map of the ataxia-telangiectasia locus
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of outstanding interest. This paper describes a saturation map of the A-T region on chromosome 11 with highly polymorphic microsatellite markers. Twenty four markers have been integrated into a high density microsatellite map spanning 6 Mb of DNA. This information is clearly valuable in the construction of informative haplotypes for the A-T locus.
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Vanagaite L, James MR, Rotman G, Savitsky K, Bar-Shira A, Gilad S, Ziv Y, Uchenick V, Sartiel A, Collins FS, et al. A high-density microsatellite map of the ataxia-telangiectasia locus. of outstanding interest Hum Genet. 95:1995;451-455 This paper describes a saturation map of the A-T region on chromosome 11 with highly polymorphic microsatellite markers. Twenty four markers have been integrated into a high density microsatellite map spanning 6 Mb of DNA. This information is clearly valuable in the construction of informative haplotypes for the A-T locus.
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(1995)
Hum Genet
, vol.95
, pp. 451-455
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Vanagaite, L.1
James, M.R.2
Rotman, G.3
Savitsky, K.4
Bar-Shira, A.5
Gilad, S.6
Ziv, Y.7
Uchenick, V.8
Sartiel, A.9
Collins, F.S.10
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30
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0029029548
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Sublocalization of an ataxia-telangiectasia gene distal to D11S384 by ancestral haplotyping in Costa Rican families
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of special interest. Significant linkage disequilibrium is described for 9/13 markers between D11S1816 and S11S1391 for 27 Costa Rican families with A-T. One ancestral haplotype was demonstrated in 24/54 affected chromosomes and in approximately two-thirds of the families. This study helps to further localize the A-T locus to approximately 200 kb between the markers S384 and S535.
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Uhrhammer N, Lange E, Porras O, Naeim A, Chen X, Sheikhavandi S, Chiplunkar S, Yang L, Dandekar S, Liang T, et al. Sublocalization of an ataxia-telangiectasia gene distal to D11S384 by ancestral haplotyping in Costa Rican families. of special interest Am J Hum Genet. 1:1995;103-111 Significant linkage disequilibrium is described for 9 13 markers between D11S1816 and S11S1391 for 27 Costa Rican families with A-T. One ancestral haplotype was demonstrated in 24 54 affected chromosomes and in approximately two-thirds of the families. This study helps to further localize the A-T locus to approximately 200 kb between the markers S384 and S535.
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(1995)
Am J Hum Genet
, vol.1
, pp. 103-111
-
-
Uhrhammer, N.1
Lange, E.2
Porras, O.3
Naeim, A.4
Chen, X.5
Sheikhavandi, S.6
Chiplunkar, S.7
Yang, L.8
Dandekar, S.9
Liang, T.10
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31
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0028827312
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The complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species
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of outstanding interest. This paper describes the cloning of a cDNA contig covering the complete open reading frame of the ATM gene. This cDNA codes for a protein of 3056 amino acids with an expected molecular weight of 350.6 kDa. In addition to the PI3-K domain, which includes ATM in a family of proteins involved in DNA damage response and cell signalling, a potential leucine zipper was present in the interior of the sequence, which may be involved in ATM dimerization or interaction with other proteins.
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Savitsky K, Sfez S, Tagle D, Ziv Y, Sartiel A, Collins FS, Shiloh Y, Rotman G. The complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species. of outstanding interest Hum Mol Genet. 4:1995;2025-2032 This paper describes the cloning of a cDNA contig covering the complete open reading frame of the ATM gene. This cDNA codes for a protein of 3056 amino acids with an expected molecular weight of 350.6 kDa. In addition to the PI3-K domain, which includes ATM in a family of proteins involved in DNA damage response and cell signalling, a potential leucine zipper was present in the interior of the sequence, which may be involved in ATM dimerization or interaction with other proteins.
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(1995)
Hum Mol Genet
, vol.4
, pp. 2025-2032
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-
Savitsky, K.1
Sfez, S.2
Tagle, D.3
Ziv, Y.4
Sartiel, A.5
Collins, F.S.6
Shiloh, Y.7
Rotman, G.8
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32
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17144453056
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Genomic organization of the ATM gene
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The genomic organization of the ATM gene was determined using long-distance polymerase chain reaction. All of the intron - exon boundaries were identified. The data show that the gene occupies approximately 150 kb of genomic DNA and is made up of 66 exons. of special interest
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Uziel T, Savitsky K, Platzer M, Ziv Y, Helbitz T, Nehls M, Boehm T, Rosenthal A, Shiloh Y, Rotman G. Genomic organization of the ATM gene. of special interest Genomics. 1996; The genomic organization of the ATM gene was determined using long-distance polymerase chain reaction. All of the intron - exon boundaries were identified. The data show that the gene occupies approximately 150 kb of genomic DNA and is made up of 66 exons.
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(1996)
Genomics
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Uziel, T.1
Savitsky, K.2
Platzer, M.3
Ziv, Y.4
Helbitz, T.5
Nehls, M.6
Boehm, T.7
Rosenthal, A.8
Shiloh, Y.9
Rotman, G.10
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33
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0030049418
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Mutations revealed by sequencing the 5′ half of the gene for ataxia-telangiectasia
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of special interest. Six mutations were identified in the amino-terminal region of the ATM protein. One mutation is linked to a haplotype common to four unrelated families. Five of the six mutations were predicted to give rise to truncations and all the patients were compound heterozygotes.
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Byrd PJ, McConville CM, Cooper P, Parkhill J, Stankovic T, McGuire GM, Thick JA, Taylor AMR. Mutations revealed by sequencing the 5′ half of the gene for ataxia-telangiectasia. of special interest Hum Mol Genet. 5:1996;145-149 Six mutations were identified in the amino-terminal region of the ATM protein. One mutation is linked to a haplotype common to four unrelated families. Five of the six mutations were predicted to give rise to truncations and all the patients were compound heterozygotes.
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(1996)
Hum Mol Genet
, vol.5
, pp. 145-149
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-
Byrd, P.J.1
McConville, C.M.2
Cooper, P.3
Parkhill, J.4
Stankovic, T.5
McGuire, G.M.6
Thick, J.A.7
Taylor, A.M.R.8
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34
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13344269672
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Predominance of null mutations in ataxia-telangiectasia
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of special interest. A total of 44 A-T mutations have been identified of which almost 90% are predicted to lead to a protein truncation. The mutations are classified as those that abolish correct initiation or termination or that are due to the deletion of large fragments. Other mutations include in-frame insertions and deletions and the substitution of a single conserved amino acid in the PI3-K domain.
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Gilad S, Khosravi R, Shkedy D, Uziel T, Ziv Y, Savitsky K, Rotman G, Smith S, Chessa L, Jorgensen TJ, et al. Predominance of null mutations in ataxia-telangiectasia. of special interest Hum Mol Genet. 5:1996;433-440 A total of 44 A-T mutations have been identified of which almost 90% are predicted to lead to a protein truncation. The mutations are classified as those that abolish correct initiation or termination or that are due to the deletion of large fragments. Other mutations include in-frame insertions and deletions and the substitution of a single conserved amino acid in the PI3-K domain.
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(1996)
Hum Mol Genet
, vol.5
, pp. 433-440
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-
Gilad, S.1
Khosravi, R.2
Shkedy, D.3
Uziel, T.4
Ziv, Y.5
Savitsky, K.6
Rotman, G.7
Smith, S.8
Chessa, L.9
Jorgensen, T.J.10
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35
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0029890959
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Ataxia-telangiectasia: Mutations in cDNA detected by protein truncation screening
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of special interest
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Telatar M, Wang Z, Udar W, Liang T, Concannon P, Bernatowska-Matuscklewicz E, Lavin MF, Shiloh Y, Good RA, Gatti RA. Ataxia-telangiectasia: mutations in cDNA detected by protein truncation screening. of special interest Am J Hum Genet. 1996; Deletions and insertions, none larger than several hundred nucleotides, are described for the ATM gene. In addition, base substitutions leading to nonsense mutations were also detected. Four mutations were shared, in nine apparently unrelated families, and haplotype analysis defined three founder effects. All of the mutations were predicted to cause protein truncation.
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(1996)
Am J Hum Genet
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