-
1
-
-
0033547425
-
Regulation of BRCA1 by protein degradation
-
Blagosklonny MV, An WG, Melillo G, Nguyen P, Trepel JB, Neckers LM. 1999. Regulation of BRCA1 by protein degradation. Oncogene 18:6460-6468.
-
(1999)
Oncogene
, vol.18
, pp. 6460-6468
-
-
Blagosklonny, M.V.1
An, W.G.2
Melillo, G.3
Nguyen, P.4
Trepel, J.B.5
Neckers, L.M.6
-
2
-
-
24344448786
-
p53 isoforms can regulate p53 transcriptional activity
-
Bourdon JC, Fernandes K, Murray-Zmijewski F, Liu G, Diot A, Xirodimas DP, Saville MK, Lane DP. 2005. p53 isoforms can regulate p53 transcriptional activity. Genes Dev 19:2122-2137.
-
(2005)
Genes Dev
, vol.19
, pp. 2122-2137
-
-
Bourdon, J.C.1
Fernandes, K.2
Murray-Zmijewski, F.3
Liu, G.4
Diot, A.5
Xirodimas, D.P.6
Saville, M.K.7
Lane, D.P.8
-
3
-
-
21444452489
-
Expression of mutant JAGGED1 alleles in patients with Alagille syndrome
-
Boyer J, Crosnier C, Driancourt C, Raynaud N, Gonzales M, Hadchouel M, Meunier-Rotival M. 2005. Expression of mutant JAGGED1 alleles in patients with Alagille syndrome. Hum Genet 116:445-453.
-
(2005)
Hum Genet
, vol.116
, pp. 445-453
-
-
Boyer, J.1
Crosnier, C.2
Driancourt, C.3
Raynaud, N.4
Gonzales, M.5
Hadchouel, M.6
Meunier-Rotival, M.7
-
4
-
-
33749034203
-
The 185delAG mutation (c.68_69delAG) in the BRCA1 gene triggers translation reinitiation at a downstream AUG codon
-
Buisson M, Anczukow O, Zetoune AB, Ware MD, Mazoyer S. 2006. The 185delAG mutation (c.68_69delAG) in the BRCA1 gene triggers translation reinitiation at a downstream AUG codon. Hum Mutat 27:1024-1029.
-
(2006)
Hum Mutat
, vol.27
, pp. 1024-1029
-
-
Buisson, M.1
Anczukow, O.2
Zetoune, A.B.3
Ware, M.D.4
Mazoyer, S.5
-
5
-
-
3042582651
-
CHEK2*1100delC and susceptibility to breast cancer: A collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies
-
CHEK2 Breast Cancer Case-Control Consortium
-
CHEK2 Breast Cancer Case-Control Consortium. 2004. CHEK2*1100delC and susceptibility to breast cancer: a collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies. Am J Hum Genet 74:1175-1182.
-
(2004)
Am J Hum Genet
, vol.74
, pp. 1175-1182
-
-
-
6
-
-
4043130959
-
Ubiquitination and proteasomal degradation of the BRCA1 tumor suppressor is regulated during cell cycle progression
-
Choudhury AD, Xu H, Baer R. 2004. Ubiquitination and proteasomal degradation of the BRCA1 tumor suppressor is regulated during cell cycle progression. J Biol Chem 279:33909-33918.
-
(2004)
J Biol Chem
, vol.279
, pp. 33909-33918
-
-
Choudhury, A.D.1
Xu, H.2
Baer, R.3
-
7
-
-
19344374029
-
Nonsense-mediated mRNA decay: Molecular insights and mechanistic variations across species
-
Conti E, Izaurralde E. 2005. Nonsense-mediated mRNA decay: molecular insights and mechanistic variations across species. Curr Opin Cell Biol 17:316-325.
-
(2005)
Curr Opin Cell Biol
, vol.17
, pp. 316-325
-
-
Conti, E.1
Izaurralde, E.2
-
8
-
-
0030030975
-
The human tumour suppressor gene p53 is alternatively spliced in normal cells
-
Flaman JM, Waridel F, Estreicher A, Vannier A, Limacher JM, Gilbert D, Iggo R, Frebourg T. 1996. The human tumour suppressor gene p53 is alternatively spliced in normal cells. Oncogene 12:813-818.
-
(1996)
Oncogene
, vol.12
, pp. 813-818
-
-
Flaman, J.M.1
Waridel, F.2
Estreicher, A.3
Vannier, A.4
Limacher, J.M.5
Gilbert, D.6
Iggo, R.7
Frebourg, T.8
-
9
-
-
27944442063
-
The position of premature termination codons in the hepatocyte nuclear factor-1 beta gene determines susceptibility to nonsense-mediated decay
-
Harries LW, Bingham C, Bellanne-Chantelot C, Hattersley AT, Ellard S. 2005. The position of premature termination codons in the hepatocyte nuclear factor-1 beta gene determines susceptibility to nonsense-mediated decay. Hum Genet 118:214-224.
-
(2005)
Hum Genet
, vol.118
, pp. 214-224
-
-
Harries, L.W.1
Bingham, C.2
Bellanne-Chantelot, C.3
Hattersley, A.T.4
Ellard, S.5
-
10
-
-
12144285746
-
Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations
-
Inoue K, Khajavi M, Ohyama T, Hirabayashi S, Wilson J, Reggin JD, Mancias P, Butler IJ, Wilkinson MF, Wegner M, Lupski JR. 2004. Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations. Nat Genet 36:361-369.
-
(2004)
Nat Genet
, vol.36
, pp. 361-369
-
-
Inoue, K.1
Khajavi, M.2
Ohyama, T.3
Hirabayashi, S.4
Wilson, J.5
Reggin, J.D.6
Mancias, P.7
Butler, I.J.8
Wilkinson, M.F.9
Wegner, M.10
Lupski, J.R.11
-
11
-
-
14944355906
-
Low frequency of CHEK2 1100delC allele in Australian multiple-case breast cancer families: Functional analysis in heterozygous individuals
-
Jekimovs CR, Chen X, Arnold J, Gatei M, Richard DJ, Spurdle AB, Khanna KK, Chenevix-Trench G. 2005. Low frequency of CHEK2 1100delC allele in Australian multiple-case breast cancer families: functional analysis in heterozygous individuals. Br J Cancer 92:784-790.
-
(2005)
Br J Cancer
, vol.92
, pp. 784-790
-
-
Jekimovs, C.R.1
Chen, X.2
Arnold, J.3
Gatei, M.4
Richard, D.J.5
Spurdle, A.B.6
Khanna, K.K.7
Chenevix-Trench, G.8
-
12
-
-
33749057696
-
Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease
-
Khajavi M, Inoue K, Lupski JR. 2006. Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease. Eur J Hum Genet 14:1074-1081.
-
(2006)
Eur J Hum Genet
, vol.14
, pp. 1074-1081
-
-
Khajavi, M.1
Inoue, K.2
Lupski, J.R.3
-
13
-
-
29744457502
-
Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients
-
Khan SG, Oh KS, Shahlavi T, Ueda T, Busch DB, Inui H, Emmert S, Imoto K, Muniz-Medina V, Baker CC, DiGiovanna JJ, Schmidt D, Khadavi A, Metin A, Gozukara E, Slor H, Sarasin A, Kraemer KH. 2006. Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients. Carcinogenesis 27:84-94.
-
(2006)
Carcinogenesis
, vol.27
, pp. 84-94
-
-
Khan, S.G.1
Oh, K.S.2
Shahlavi, T.3
Ueda, T.4
Busch, D.B.5
Inui, H.6
Emmert, S.7
Imoto, K.8
Muniz-Medina, V.9
Baker, C.C.10
DiGiovanna, J.J.11
Schmidt, D.12
Khadavi, A.13
Metin, A.14
Gozukara, E.15
Slor, H.16
Sarasin, A.17
Kraemer, K.H.18
-
14
-
-
33746080343
-
Suppression of galactosylceramidase (GALC) expression in the twitcher mouse model of globoid cell leukodystrophy (GLD) is caused by nonsense-mediated mRNA decay (NMD)
-
Lee WC, Tsoi YK, Dickey CA, Delucia MW, Dickson DW, Eckman CB. 2006. Suppression of galactosylceramidase (GALC) expression in the twitcher mouse model of globoid cell leukodystrophy (GLD) is caused by nonsense-mediated mRNA decay (NMD). Neurobiol Dis 23:273-280.
-
(2006)
Neurobiol Dis
, vol.23
, pp. 273-280
-
-
Lee, W.C.1
Tsoi, Y.K.2
Dickey, C.A.3
Delucia, M.W.4
Dickson, D.W.5
Eckman, C.B.6
-
15
-
-
0037422575
-
Evidence for the widespread coupling of alternative splicing and nonsense-mediated mRNA decay in humans
-
Lewis BP, Green RE, Brenner SE. 2003. Evidence for the widespread coupling of alternative splicing and nonsense-mediated mRNA decay in humans. Proc Natl Acad Sci USA 100:189-192.
-
(2003)
Proc Natl Acad Sci USA
, vol.100
, pp. 189-192
-
-
Lewis, B.P.1
Green, R.E.2
Brenner, S.E.3
-
16
-
-
33644752820
-
Identification of nine new IDS alleles in mucopolysaccharidosis II. Quantitative evaluation by real-time RT-PCR of mRNAs sensitive to nonsense-mediated and nonstop decay mechanisms
-
Lualdi S, Di Rocco M, Corsolini F, Spada M, Bembi B, Cotugno G, Battini R, Stroppiano M, Gabriela Pittis M, Filocamo M. 2006. Identification of nine new IDS alleles in mucopolysaccharidosis II. Quantitative evaluation by real-time RT-PCR of mRNAs sensitive to nonsense-mediated and nonstop decay mechanisms. Biochim Biophys Acta 1762:478-484.
-
(2006)
Biochim Biophys Acta
, vol.1762
, pp. 478-484
-
-
Lualdi, S.1
Di Rocco, M.2
Corsolini, F.3
Spada, M.4
Bembi, B.5
Cotugno, G.6
Battini, R.7
Stroppiano, M.8
Gabriela Pittis, M.9
Filocamo, M.10
-
17
-
-
32444444090
-
Monoallelic BUB1B mutations and defective mitotic-spindle checkpoint in seven familles with premature chromatid separation (PCS) syndrome
-
Matsuura S, Matsumoto Y, Morishima K, Izumi H, Matsumoto H, Ito E, Tsutsui K, Kobayashi J, Tauchi H, Kajiwara Y, Hama S, Kurisu K, Tahara H, Oshimura M, Komatsu K, Ikeuchi T, Kajii T. 2006. Monoallelic BUB1B mutations and defective mitotic-spindle checkpoint in seven familles with premature chromatid separation (PCS) syndrome. Am J Med Genet A 140:358-367.
-
(2006)
Am J Med Genet A
, vol.140
, pp. 358-367
-
-
Matsuura, S.1
Matsumoto, Y.2
Morishima, K.3
Izumi, H.4
Matsumoto, H.5
Ito, E.6
Tsutsui, K.7
Kobayashi, J.8
Tauchi, H.9
Kajiwara, Y.10
Hama, S.11
Kurisu, K.12
Tahara, H.13
Oshimura, M.14
Komatsu, K.15
Ikeuchi, T.16
Kajii, T.17
-
18
-
-
0028205734
-
Two germ-line mutations affecting the same nucleotide at codon 257 of p53 gene, a rare site for mutations
-
Mazoyer S, Lalle P, Moyret-Lalle C, Marcais C, Schraub S, Frappaz D, Sobol H, Ozturk M. 1994. Two germ-line mutations affecting the same nucleotide at codon 257 of p53 gene, a rare site for mutations. Oncogene 9:1237-1239.
-
(1994)
Oncogene
, vol.9
, pp. 1237-1239
-
-
Mazoyer, S.1
Lalle, P.2
Moyret-Lalle, C.3
Marcais, C.4
Schraub, S.5
Frappaz, D.6
Sobol, H.7
Ozturk, M.8
-
19
-
-
0037064145
-
Separable roles for rent1/hUpf1 in altered splicing and decay of nonsense transcripts
-
Mendell JT, ap Rhys CM, Dietz HC. 2002. Separable roles for rent1/hUpf1 in altered splicing and decay of nonsense transcripts. Science 298:419-422.
-
(2002)
Science
, vol.298
, pp. 419-422
-
-
Mendell, J.T.1
ap Rhys, C.M.2
Dietz, H.C.3
-
20
-
-
6944256813
-
Nonsense surveillance regulates expression of diverse classes of mammalian transcripts and mutes genomic noise
-
Mendell JT, Sharifi NA, Meyers JL, Martinez-Murillo F, Dietz HC. 2004. Nonsense surveillance regulates expression of diverse classes of mammalian transcripts and mutes genomic noise. Nat Genet 36:1073-1078.
-
(2004)
Nat Genet
, vol.36
, pp. 1073-1078
-
-
Mendell, J.T.1
Sharifi, N.A.2
Meyers, J.L.3
Martinez-Murillo, F.4
Dietz, H.C.5
-
21
-
-
33749039966
-
The CHEK2 gene and inherited breast cancer susceptibility
-
Nevanlinna H, Bartek J. 2006. The CHEK2 gene and inherited breast cancer susceptibility. Oncogene 25:5912-5919.
-
(2006)
Oncogene
, vol.25
, pp. 5912-5919
-
-
Nevanlinna, H.1
Bartek, J.2
-
22
-
-
0036848138
-
The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons
-
Perrin-Vidoz L, Sinilnikova OM, Stoppa-Lyonnet D, Lenoir GM, Mazoyer S. 2002. The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons. Hum Mol Genet 11:2805-2814.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 2805-2814
-
-
Perrin-Vidoz, L.1
Sinilnikova, O.M.2
Stoppa-Lyonnet, D.3
Lenoir, G.M.4
Mazoyer, S.5
-
23
-
-
0031472370
-
Association of BRCA1 with Rad51 in mitotic and meiotic cells
-
Scully R, Chen J, Plug A, Xiao Y, Weaver D, Feunteun J, Ashley T, Livingston DM. 1997. Association of BRCA1 with Rad51 in mitotic and meiotic cells. Cell 88:265-275.
-
(1997)
Cell
, vol.88
, pp. 265-275
-
-
Scully, R.1
Chen, J.2
Plug, A.3
Xiao, Y.4
Weaver, D.5
Feunteun, J.6
Ashley, T.7
Livingston, D.M.8
-
24
-
-
33749497506
-
Rare germ line CHEK2 variants identified in breast cancer families encode proteins that show impaired activation
-
Sodha N, Mantoni TS, Tavtigian SV, Eeles R, Garrett MD. 2006. Rare germ line CHEK2 variants identified in breast cancer families encode proteins that show impaired activation. Cancer Res 66:8966-8970.
-
(2006)
Cancer Res
, vol.66
, pp. 8966-8970
-
-
Sodha, N.1
Mantoni, T.S.2
Tavtigian, S.V.3
Eeles, R.4
Garrett, M.D.5
-
25
-
-
9144232488
-
Alternative splicing and mutation status of CHEK2 in stage III breast cancer
-
Staalesen V, Falck J, Geisler S, Bartkova J, Borresen-Dale AL, Lukas J, Lillehaug JR, Bartek J, Lonning PE. 2004. Alternative splicing and mutation status of CHEK2 in stage III breast cancer. Oncogene 23:8535-8544.
-
(2004)
Oncogene
, vol.23
, pp. 8535-8544
-
-
Staalesen, V.1
Falck, J.2
Geisler, S.3
Bartkova, J.4
Borresen-Dale, A.L.5
Lukas, J.6
Lillehaug, J.R.7
Bartek, J.8
Lonning, P.E.9
-
26
-
-
0032526946
-
Binary specification of nonsense codons by splicing and cytoplasmic translation
-
Thermann R, Neu-Yilik G, Deters A, Frede U, Wehr K, Hagemeier C, Hentze MW, Kulozik AE. 1998. Binary specification of nonsense codons by splicing and cytoplasmic translation. EMBO J 17:3484-3494.
-
(1998)
EMBO J
, vol.17
, pp. 3484-3494
-
-
Thermann, R.1
Neu-Yilik, G.2
Deters, A.3
Frede, U.4
Wehr, K.5
Hagemeier, C.6
Hentze, M.W.7
Kulozik, A.E.8
-
27
-
-
11144354188
-
Analysis of the allele-specific expression of the mismatch repair gene MLH1 using a simple DHPLC-based method
-
Tournier I, Raux G, Di Fiore F, Marechal I, Leclerc C, Martin C, Wang Q, Buisine MP, Stoppa-Lyonnet D, Olschwang S, Frebourg T, Tosi M. 2004. Analysis of the allele-specific expression of the mismatch repair gene MLH1 using a simple DHPLC-based method. Hum Mutat 23:379-384.
-
(2004)
Hum Mutat
, vol.23
, pp. 379-384
-
-
Tournier, I.1
Raux, G.2
Di Fiore, F.3
Marechal, I.4
Leclerc, C.5
Martin, C.6
Wang, Q.7
Buisine, M.P.8
Stoppa-Lyonnet, D.9
Olschwang, S.10
Frebourg, T.11
Tosi, M.12
-
28
-
-
2142656387
-
Inhibition of nonsense-mediated mRNA decay rescues the phenotype in Ullrich's disease
-
Usuki F, Yamashita A, Higuchi I, Ohnishi T, Shiraishi T, Osame M, Ohno S. 2004. Inhibition of nonsense-mediated mRNA decay rescues the phenotype in Ullrich's disease. Ann Neurol 55:740-744.
-
(2004)
Ann Neurol
, vol.55
, pp. 740-744
-
-
Usuki, F.1
Yamashita, A.2
Higuchi, I.3
Ohnishi, T.4
Shiraishi, T.5
Osame, M.6
Ohno, S.7
-
29
-
-
30544452112
-
Does nonsense-mediated mRNA decay explain the ovarian cancer cluster region of the BRCA2 gene?
-
Ware MD, DeSilva D, Sinilnikova OM, Stoppa-Lyonnet D, Tavtigian SV, Mazoyer S. 2006. Does nonsense-mediated mRNA decay explain the ovarian cancer cluster region of the BRCA2 gene? Oncogene 25:323-328.
-
(2006)
Oncogene
, vol.25
, pp. 323-328
-
-
Ware, M.D.1
DeSilva, D.2
Sinilnikova, O.M.3
Stoppa-Lyonnet, D.4
Tavtigian, S.V.5
Mazoyer, S.6
-
30
-
-
0035951809
-
Characterization of tumor-associated Chk2 mutations
-
Wu X, Webster SR, Chen J. 2001. Characterization of tumor-associated Chk2 mutations. J Biol Chem 276:2971-2974.
-
(2001)
J Biol Chem
, vol.276
, pp. 2971-2974
-
-
Wu, X.1
Webster, S.R.2
Chen, J.3
-
31
-
-
0035449691
-
Human SMG-1, a novel phosphatidylinositol 3-kinase-related protein kinase, associates with components of the mRNA surveillance complex and is involved in the regulation of nonsense-mediated mRNA decay
-
Yamashita A, Ohnishi T, Kashima I, Taya Y, Ohno S. 2001. Human SMG-1, a novel phosphatidylinositol 3-kinase-related protein kinase, associates with components of the mRNA surveillance complex and is involved in the regulation of nonsense-mediated mRNA decay. Genes Dev 15:2215-2228.
-
(2001)
Genes Dev
, vol.15
, pp. 2215-2228
-
-
Yamashita, A.1
Ohnishi, T.2
Kashima, I.3
Taya, Y.4
Ohno, S.5
-
32
-
-
0347722754
-
Effects on collagen VI mRNA stability and microfibrillar assembly of three COL6A2 mutations in two families with Ullrich congenital muscular dystrophy
-
Zhang RZ, Sabatelli P, Pan TC, Squarzoni S, Mattioli E, Bettini E, Pepe G, Chu ML. 2002. Effects on collagen VI mRNA stability and microfibrillar assembly of three COL6A2 mutations in two families with Ullrich congenital muscular dystrophy. J Biol Chem 277:43557-43564.
-
(2002)
J Biol Chem
, vol.277
, pp. 43557-43564
-
-
Zhang, R.Z.1
Sabatelli, P.2
Pan, T.C.3
Squarzoni, S.4
Mattioli, E.5
Bettini, E.6
Pepe, G.7
Chu, M.L.8
|