-
1
-
-
4444339751
-
ATM and ataxia telangiectasia
-
McKinnon P.J. ATM and ataxia telangiectasia. EMBO Rep. 5 (2004) 772-776
-
(2004)
EMBO Rep.
, vol.5
, pp. 772-776
-
-
McKinnon, P.J.1
-
2
-
-
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 D.A., Smith S., Uziel T., and Sfez S. A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science 268 (1995) 1749-1753
-
(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
-
3
-
-
17144453056
-
Genomic organization of the ATM gene
-
Uziel T., Savitsky K., Platzer M., Ziv Y., Helbitz T., Nehls M., Boehm T., Rosenthal A., Shiloh Y., and Rotman G. Genomic organization of the ATM gene. Genomics 33 (1996) 317-320
-
(1996)
Genomics
, vol.33
, pp. 317-320
-
-
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
-
4
-
-
33745823159
-
The ATM-mediated DNA-damage response: taking shape
-
Shiloh Y. The ATM-mediated DNA-damage response: taking shape. Trends Biochem. Sci. 31 (2006) 402-410
-
(2006)
Trends Biochem. Sci.
, vol.31
, pp. 402-410
-
-
Shiloh, Y.1
-
5
-
-
3242879267
-
Functional consequences of sequence alterations in the ATM gene
-
Lavin M.F., Scott S., Gueven N., Kozlov S., Peng C., and Chen P. Functional consequences of sequence alterations in the ATM gene. DNA Repair (Amst.) 3 (2004) 1197-1205
-
(2004)
DNA Repair (Amst.)
, vol.3
, pp. 1197-1205
-
-
Lavin, M.F.1
Scott, S.2
Gueven, N.3
Kozlov, S.4
Peng, C.5
Chen, P.6
-
6
-
-
0038384963
-
Independent mutational events are rare in the ATM gene: haplotype prescreening enhances mutation detection rate
-
Mitui M., Campbell C., Coutinho G., Sun X., Lai C.H., Thorstenson Y., Castellvi-Bel S., Fernandez L., Monros E., Carvalho B.T., Porras O., Fontan G., and Gatti R.A. Independent mutational events are rare in the ATM gene: haplotype prescreening enhances mutation detection rate. Hum. Mutat. 22 (2003) 43-50
-
(2003)
Hum. Mutat.
, vol.22
, pp. 43-50
-
-
Mitui, M.1
Campbell, C.2
Coutinho, G.3
Sun, X.4
Lai, C.H.5
Thorstenson, Y.6
Castellvi-Bel, S.7
Fernandez, L.8
Monros, E.9
Carvalho, B.T.10
Porras, O.11
Fontan, G.12
Gatti, R.A.13
-
7
-
-
0030805899
-
Diversity of ATM gene mutations detected in patients with ataxia-telangiectasia
-
Concannon P., and Gatti R.A. Diversity of ATM gene mutations detected in patients with ataxia-telangiectasia. Hum. Mutat. 10 (1997) 100-107
-
(1997)
Hum. Mutat.
, vol.10
, pp. 100-107
-
-
Concannon, P.1
Gatti, R.A.2
-
8
-
-
12144288304
-
Five haplotypes account for fifty-five percent of ATM mutations in Brazilian patients with ataxia telangiectasia: seven new mutations
-
Coutinho G., Mitui M., Campbell C., Costa Carvalho B.T., Nahas S., Sun X., Huo Y., Lai C.H., Thorstenson Y., Tanouye R., Raskin S., Kim C.A., Llerena Jr. J., and Gatti R.A. Five haplotypes account for fifty-five percent of ATM mutations in Brazilian patients with ataxia telangiectasia: seven new mutations. Am. J. Med. Genet. 126 (2004) 33-40
-
(2004)
Am. J. Med. Genet.
, vol.126
, pp. 33-40
-
-
Coutinho, G.1
Mitui, M.2
Campbell, C.3
Costa Carvalho, B.T.4
Nahas, S.5
Sun, X.6
Huo, Y.7
Lai, C.H.8
Thorstenson, Y.9
Tanouye, R.10
Raskin, S.11
Kim, C.A.12
Llerena Jr., J.13
Gatti, R.A.14
-
9
-
-
0029890959
-
Ataxia-telangiectasia: mutations in ATM cDNA detected by protein-truncation screening
-
Telatar M., Wang Z., Udar N., Liang T., Bernatowska-Matuszkiewicz E., Lavin M., Shiloh Y., Concannon P., Good R.A., and Gatti R.A. Ataxia-telangiectasia: mutations in ATM cDNA detected by protein-truncation screening. Am. J. Hum. Genet. 59 (1996) 40-44
-
(1996)
Am. J. Hum. Genet.
, vol.59
, pp. 40-44
-
-
Telatar, M.1
Wang, Z.2
Udar, N.3
Liang, T.4
Bernatowska-Matuszkiewicz, E.5
Lavin, M.6
Shiloh, Y.7
Concannon, P.8
Good, R.A.9
Gatti, R.A.10
-
10
-
-
0027493961
-
Protein truncation test (PTT) for rapid detection of translation-terminating mutations
-
Roest P.A., Roberts R.G., Sugino S., van Ommen G.J., and den Dunnen J.T. Protein truncation test (PTT) for rapid detection of translation-terminating mutations. Hum. Mol. Genet. 2 (1993) 1719-1721
-
(1993)
Hum. Mol. Genet.
, vol.2
, pp. 1719-1721
-
-
Roest, P.A.1
Roberts, R.G.2
Sugino, S.3
van Ommen, G.J.4
den Dunnen, J.T.5
-
11
-
-
0028289053
-
Rapid detection of translation-terminating mutations at the adenomatous polyposis coli (APC) gene by direct protein truncation test
-
van der L.R., Khan P.M., Vasen H., van L.C., Tops C., Roest P., den D.J., and Fodde R. Rapid detection of translation-terminating mutations at the adenomatous polyposis coli (APC) gene by direct protein truncation test. Genomics 20 (1994) 1-4
-
(1994)
Genomics
, vol.20
, pp. 1-4
-
-
van der, L.R.1
Khan, P.M.2
Vasen, H.3
van, L.C.4
Tops, C.5
Roest, P.6
den, D.J.7
Fodde, R.8
-
12
-
-
0032790612
-
The protein truncation test: a review
-
den Dunnen J.T., van G.J., and Ommen. The protein truncation test: a review. Hum. Mutat. 14 (1999) 95-102
-
(1999)
Hum. Mutat.
, vol.14
, pp. 95-102
-
-
den Dunnen, J.T.1
van, G.J.2
Ommen3
-
13
-
-
0036161944
-
A non-radioactive protein truncation test for the sensitive detection of all stop and frameshift mutations
-
Kahmann S., Herter P., Kuhnen C., Müller K.M., Muhr G., Martin D., Soddemann M., and Müller O. A non-radioactive protein truncation test for the sensitive detection of all stop and frameshift mutations. Hum. Mutat. 19 (2002) 165-172
-
(2002)
Hum. Mutat.
, vol.19
, pp. 165-172
-
-
Kahmann, S.1
Herter, P.2
Kuhnen, C.3
Müller, K.M.4
Muhr, G.5
Martin, D.6
Soddemann, M.7
Müller, O.8
-
14
-
-
0030943271
-
Introduction of a myc reporter tag to improve the quality of mutation detection using the protein truncation test
-
Rowan A.J., and Bodmer W.F. Introduction of a myc reporter tag to improve the quality of mutation detection using the protein truncation test. Hum. Mutat. 9 (1997) 172-176
-
(1997)
Hum. Mutat.
, vol.9
, pp. 172-176
-
-
Rowan, A.J.1
Bodmer, W.F.2
-
15
-
-
0037317986
-
A high-throughput nonisotopic protein truncation test
-
Gite S., Lim M., Carlson R., Olejnik J., Zehnbauer B., and Rothschild K. A high-throughput nonisotopic protein truncation test. Nat. Biotechnol. 21 (2003) 194-197
-
(2003)
Nat. Biotechnol.
, vol.21
, pp. 194-197
-
-
Gite, S.1
Lim, M.2
Carlson, R.3
Olejnik, J.4
Zehnbauer, B.5
Rothschild, K.6
-
17
-
-
0034653964
-
Ultrasensitive fluorescence-based detection of nascent proteins in gels
-
Gite S., Mamaev S., Olejnik J., and Rothschild K. Ultrasensitive fluorescence-based detection of nascent proteins in gels. Anal. Biochem. 279 (2000) 218-225
-
(2000)
Anal. Biochem.
, vol.279
, pp. 218-225
-
-
Gite, S.1
Mamaev, S.2
Olejnik, J.3
Rothschild, K.4
-
18
-
-
0242574702
-
ATM variants 7271T > G and IVS10-6T > G among women with unilateral and bilateral breast cancer
-
Bernstein J.L., Bernstein L., Thompson W.D., Lynch C.F., Malone K.E., Teitelbaum S.L., Olsen J.H., Anton-Culver H., Boice J.D., Rosenstein B.S., Borresen-Dale A.L., Gatti R.A., Concannon P., and Haile R.W. ATM variants 7271T > G and IVS10-6T > G among women with unilateral and bilateral breast cancer. Br. J. Cancer 89 (2003) 1513-1516
-
(2003)
Br. J. Cancer
, vol.89
, pp. 1513-1516
-
-
Bernstein, J.L.1
Bernstein, L.2
Thompson, W.D.3
Lynch, C.F.4
Malone, K.E.5
Teitelbaum, S.L.6
Olsen, J.H.7
Anton-Culver, H.8
Boice, J.D.9
Rosenstein, B.S.10
Borresen-Dale, A.L.11
Gatti, R.A.12
Concannon, P.13
Haile, R.W.14
-
19
-
-
0028827312
-
The complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species
-
Savitsky K., Sfez S., Tagle D.A., Ziv Y., Sartiel A., Collins F.S., Shiloh Y., and Rotman G. The complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species. Hum. Mol. Genet. 4 (1995) 2025-2032
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 2025-2032
-
-
Savitsky, K.1
Sfez, S.2
Tagle, D.A.3
Ziv, Y.4
Sartiel, A.5
Collins, F.S.6
Shiloh, Y.7
Rotman, G.8
-
20
-
-
0033525169
-
A perfect message: RNA surveillance and nonsense-mediated decay
-
Hentze M.W., and Kulozik A.E. A perfect message: RNA surveillance and nonsense-mediated decay. Cell 96 (1999) 307-310
-
(1999)
Cell
, vol.96
, pp. 307-310
-
-
Hentze, M.W.1
Kulozik, A.E.2
-
21
-
-
0036300610
-
RNA surveillance by nuclear scanning?
-
Wilkinson M.F., and Shyu A.B. RNA surveillance by nuclear scanning?. Nat. Cell Biol. 4 (2002) E144-E147
-
(2002)
Nat. Cell Biol.
, vol.4
-
-
Wilkinson, M.F.1
Shyu, A.B.2
-
23
-
-
0343380661
-
Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations
-
Telatar M., Teraoka S., Wang Z., Chun H.H., Liang T., Castellvi-Bel S., Udar N., Borresen-Dale A.L., Chessa L., Bernatowska-Matuszkiewicz E., Porras O., Watanabe M., Junker A., Concannon P., and Gatti R.A. Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations. Am. J. Hum. Genet. 62 (1998) 86-97
-
(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
-
24
-
-
0032071187
-
A model for ATM heterozygote identification in a large population: four founder-effect ATM mutations identify most of Costa Rican patients with ataxia telangiectasia
-
Telatar M., Wang S., Castellvi-Bel S., Tai L.Q., Sheikhavandi S., Regueiro J.R., Porras O., and Gatti R.A. A model for ATM heterozygote identification in a large population: four founder-effect ATM mutations identify most of Costa Rican patients with ataxia telangiectasia. Mol. Genet. Metab. 64 (1998) 36-43
-
(1998)
Mol. Genet. Metab.
, vol.64
, pp. 36-43
-
-
Telatar, M.1
Wang, S.2
Castellvi-Bel, S.3
Tai, L.Q.4
Sheikhavandi, S.5
Regueiro, J.R.6
Porras, O.7
Gatti, R.A.8
-
25
-
-
0028884942
-
A regulatory mechanism that detects premature nonsense codons in T-cell receptor transcripts in vivo is reversed by protein synthesis inhibitors in vitro
-
Carter M.S., Doskow J., Morris P., Li S., Nhim R.P., Sandstedt S., and Wilkinson M.F. A regulatory mechanism that detects premature nonsense codons in T-cell receptor transcripts in vivo is reversed by protein synthesis inhibitors in vitro. J. Biol. Chem. 270 (1995) 28995-29003
-
(1995)
J. Biol. Chem.
, vol.270
, pp. 28995-29003
-
-
Carter, M.S.1
Doskow, J.2
Morris, P.3
Li, S.4
Nhim, R.P.5
Sandstedt, S.6
Wilkinson, M.F.7
-
26
-
-
0030746291
-
Inhibition of nonsense-mediated messenger RNA decay in clinical samples facilitates detection of human MSH2 mutations with an in vivo fusion protein assay and conventional techniques
-
Andreutti-Zaugg C., Scott R.J., and Iggo R. Inhibition of nonsense-mediated messenger RNA decay in clinical samples facilitates detection of human MSH2 mutations with an in vivo fusion protein assay and conventional techniques. Cancer Res. 57 (1997) 3288-3293
-
(1997)
Cancer Res.
, vol.57
, pp. 3288-3293
-
-
Andreutti-Zaugg, C.1
Scott, R.J.2
Iggo, R.3
-
27
-
-
14344278568
-
hMRE11: genomic structure and a null mutation identified in a transcript protected from nonsense-mediated mRNA decay
-
Pitts S.A., Kullar H.S., Stankovic T., Stewart G.S., Last J.I., Bedenham T., Armstrong S.J., Piane M., Chessa L., Taylor A.M., and Byrd P.J. hMRE11: genomic structure and a null mutation identified in a transcript protected from nonsense-mediated mRNA decay. Hum. Mol. Genet. 10 (2001) 1155-1162
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 1155-1162
-
-
Pitts, S.A.1
Kullar, H.S.2
Stankovic, T.3
Stewart, G.S.4
Last, J.I.5
Bedenham, T.6
Armstrong, S.J.7
Piane, M.8
Chessa, L.9
Taylor, A.M.10
Byrd, P.J.11
-
28
-
-
8144226267
-
Correction of ATM gene function by aminoglycoside-induced read-through of premature termination codons
-
Lai C.H., Chun H.H., Nahas S.A., Mitui M., Gamo K.M., Du L., and Gatti R.A. Correction of ATM gene function by aminoglycoside-induced read-through of premature termination codons. Proc. Natl. Acad. Sci. U.S.A. 101 (2004) 15676-15681
-
(2004)
Proc. Natl. Acad. Sci. U.S.A.
, vol.101
, pp. 15676-15681
-
-
Lai, C.H.1
Chun, H.H.2
Nahas, S.A.3
Mitui, M.4
Gamo, K.M.5
Du, L.6
Gatti, R.A.7
-
29
-
-
34347236941
-
Correction of prototypic ATM splicing mutations and aberrant ATM function with antisense morpholino oligonucleotides
-
Du L., Pollard J.M., and Gatti R.A. Correction of prototypic ATM splicing mutations and aberrant ATM function with antisense morpholino oligonucleotides. Proc. Natl. Acad. Sci. U.S.A. 104 (2007) 6007-6012
-
(2007)
Proc. Natl. Acad. Sci. U.S.A.
, vol.104
, pp. 6007-6012
-
-
Du, L.1
Pollard, J.M.2
Gatti, R.A.3
|