-
1
-
-
54849413018
-
Introducing sense into nonsense in treatments of human genetic diseases
-
Linde L., Kerem B. Introducing sense into nonsense in treatments of human genetic diseases. Trends Genet. 2008, 24:552-563.
-
(2008)
Trends Genet.
, vol.24
, pp. 552-563
-
-
Linde, L.1
Kerem, B.2
-
2
-
-
49949105213
-
The multiple lives of NMD factors: balancing roles in gene and genome regulation
-
Isken O., Maquat L.E. The multiple lives of NMD factors: balancing roles in gene and genome regulation. Nat. Rev. Genet. 2008, 9:699-712.
-
(2008)
Nat. Rev. Genet.
, vol.9
, pp. 699-712
-
-
Isken, O.1
Maquat, L.E.2
-
3
-
-
84867328079
-
Pharmaceutical therapies to recode nonsense mutations in inherited diseases
-
Lee H.L., Dougherty J.P. Pharmaceutical therapies to recode nonsense mutations in inherited diseases. Pharmacol. Ther. 2012, 136:227-266.
-
(2012)
Pharmacol. Ther.
, vol.136
, pp. 227-266
-
-
Lee, H.L.1
Dougherty, J.P.2
-
4
-
-
76249116971
-
The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalized genomics
-
Stenson P.D., et al. The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalized genomics. Hum. Genomics 2009, 4:69-72.
-
(2009)
Hum. Genomics
, vol.4
, pp. 69-72
-
-
Stenson, P.D.1
-
5
-
-
77958151782
-
Cystic fibrosis transmembrane conductance regulator protein repair as a therapeutic strategy in cystic fibrosis
-
Sloane P.A., Rowe S.M. Cystic fibrosis transmembrane conductance regulator protein repair as a therapeutic strategy in cystic fibrosis. Curr. Opin. Pulm. Med. 2010, 16:591-597.
-
(2010)
Curr. Opin. Pulm. Med.
, vol.16
, pp. 591-597
-
-
Sloane, P.A.1
Rowe, S.M.2
-
6
-
-
0035168526
-
Long mutant dystrophins and variable phenotypes: evasion of nonsense-mediated decay?
-
Kerr T.P., et al. Long mutant dystrophins and variable phenotypes: evasion of nonsense-mediated decay?. Hum. Genet. 2001, 109:402-407.
-
(2001)
Hum. Genet.
, vol.109
, pp. 402-407
-
-
Kerr, T.P.1
-
7
-
-
80051680291
-
A continuum model for tumour suppression
-
Berger A.H., et al. A continuum model for tumour suppression. Nature 2011, 476:163-169.
-
(2011)
Nature
, vol.476
, pp. 163-169
-
-
Berger, A.H.1
-
8
-
-
66149108352
-
Quantification of epigenetic and genetic 2nd hits in CDH1 during hereditary diffuse gastric cancer syndrome progression
-
Oliveira C., et al. Quantification of epigenetic and genetic 2nd hits in CDH1 during hereditary diffuse gastric cancer syndrome progression. Gastroenterology 2009, 136:2137-2148.
-
(2009)
Gastroenterology
, vol.136
, pp. 2137-2148
-
-
Oliveira, C.1
-
9
-
-
33847397617
-
The canonical Wnt signalling pathway and its APC partner in colon cancer development
-
Schneikert J., Behrens J. The canonical Wnt signalling pathway and its APC partner in colon cancer development. Gut 2007, 56:417-425.
-
(2007)
Gut
, vol.56
, pp. 417-425
-
-
Schneikert, J.1
Behrens, J.2
-
10
-
-
79960902938
-
Pathology of hereditary breast cancer
-
van der Groep P., et al. Pathology of hereditary breast cancer. Cell. Oncol. (Dordr.) 2011, 34:71-88.
-
(2011)
Cell. Oncol. (Dordr.)
, vol.34
, pp. 71-88
-
-
van der Groep, P.1
-
11
-
-
64549109715
-
Germline CDH1 deletions in hereditary diffuse gastric cancer families
-
Oliveira C., et al. Germline CDH1 deletions in hereditary diffuse gastric cancer families. Hum. Mol. Genet. 2009, 18:1545-1555.
-
(2009)
Hum. Mol. Genet.
, vol.18
, pp. 1545-1555
-
-
Oliveira, C.1
-
12
-
-
77956110372
-
Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research
-
Fitzgerald R.C., et al. Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research. J. Med. Genet. 2010, 47:436-444.
-
(2010)
J. Med. Genet.
, vol.47
, pp. 436-444
-
-
Fitzgerald, R.C.1
-
13
-
-
79751489596
-
Molecular genetics of colorectal cancer
-
Fearon E.R. Molecular genetics of colorectal cancer. Annu. Rev. Pathol. 2011, 6:479-507.
-
(2011)
Annu. Rev. Pathol.
, vol.6
, pp. 479-507
-
-
Fearon, E.R.1
-
14
-
-
0029928160
-
APC gene: database of germline and somatic mutations in human tumors and cell lines
-
Beroud C., Soussi T. APC gene: database of germline and somatic mutations in human tumors and cell lines. Nucleic Acids Res. 1996, 24:121-124.
-
(1996)
Nucleic Acids Res.
, vol.24
, pp. 121-124
-
-
Beroud, C.1
Soussi, T.2
-
15
-
-
80052028694
-
Messing up disorder: how do missense mutations in the tumor suppressor protein APC lead to cancer?
-
Minde D.P., et al. Messing up disorder: how do missense mutations in the tumor suppressor protein APC lead to cancer?. Mol. Cancer 2011, 10:101.
-
(2011)
Mol. Cancer
, vol.10
, pp. 101
-
-
Minde, D.P.1
-
16
-
-
72449167940
-
Familial adenomatous polyposis
-
Half E., et al. Familial adenomatous polyposis. Orphanet J. Rare Dis. 2009, 4:22.
-
(2009)
Orphanet J. Rare Dis.
, vol.4
, pp. 22
-
-
Half, E.1
-
17
-
-
77956865714
-
Attenuated familial adenomatous polyposis: results from an international collaborative study
-
Knudsen A.L., et al. Attenuated familial adenomatous polyposis: results from an international collaborative study. Colorectal Dis. 2010, 12:e243-e249.
-
(2010)
Colorectal Dis.
, vol.12
-
-
Knudsen, A.L.1
-
18
-
-
34250783569
-
Germline MLH1 and MSH2 mutational spectrum including frequent large genomic aberrations in Hungarian hereditary non-polyposis colorectal cancer families: implications for genetic testing
-
Papp J., et al. Germline MLH1 and MSH2 mutational spectrum including frequent large genomic aberrations in Hungarian hereditary non-polyposis colorectal cancer families: implications for genetic testing. World J. Gastroenterol. 2007, 13:2727-2732.
-
(2007)
World J. Gastroenterol.
, vol.13
, pp. 2727-2732
-
-
Papp, J.1
-
19
-
-
6844252284
-
Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation
-
Marsh D.J., et al. Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation. Hum. Mol. Genet. 1998, 7:507-515.
-
(1998)
Hum. Mol. Genet.
, vol.7
, pp. 507-515
-
-
Marsh, D.J.1
-
20
-
-
77953985258
-
Peutz-Jeghers syndrome: a systematic review and recommendations for management
-
Beggs A.D., et al. Peutz-Jeghers syndrome: a systematic review and recommendations for management. Gut 2010, 59:975-986.
-
(2010)
Gut
, vol.59
, pp. 975-986
-
-
Beggs, A.D.1
-
21
-
-
2342583351
-
Genotype-phenotype correlations in Peutz-Jeghers syndrome
-
Amos C.I., et al. Genotype-phenotype correlations in Peutz-Jeghers syndrome. J. Med. Genet. 2004, 41:327-333.
-
(2004)
J. Med. Genet.
, vol.41
, pp. 327-333
-
-
Amos, C.I.1
-
22
-
-
84857356609
-
Sarcomas in TP53 germline mutation carriers: a review of the IARC TP53 database
-
Ognjanovic S., et al. Sarcomas in TP53 germline mutation carriers: a review of the IARC TP53 database. Cancer 2012, 118:1387-1396.
-
(2012)
Cancer
, vol.118
, pp. 1387-1396
-
-
Ognjanovic, S.1
-
23
-
-
0028113345
-
A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1
-
Miki Y., et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 1994, 266:66-71.
-
(1994)
Science
, vol.266
, pp. 66-71
-
-
Miki, Y.1
-
24
-
-
33748110809
-
Breast cancer susceptibility testing: past, present and future
-
Goldberg J.I., Borgen P.I. Breast cancer susceptibility testing: past, present and future. Expert Rev. Anticancer Ther. 2006, 6:1205-1214.
-
(2006)
Expert Rev. Anticancer Ther.
, vol.6
, pp. 1205-1214
-
-
Goldberg, J.I.1
Borgen, P.I.2
-
25
-
-
16944367027
-
Moderate frequency of BRCA1 and BRCA2 germ-line mutations in Scandinavian familial breast cancer
-
Hakansson S., et al. Moderate frequency of BRCA1 and BRCA2 germ-line mutations in Scandinavian familial breast cancer. Am. J. Hum. Genet. 1997, 60:1068-1078.
-
(1997)
Am. J. Hum. Genet.
, vol.60
, pp. 1068-1078
-
-
Hakansson, S.1
-
26
-
-
0029655346
-
A high incidence of BRCA1 mutations in 20 breast-ovarian cancer families
-
Serova O., et al. A high incidence of BRCA1 mutations in 20 breast-ovarian cancer families. Am. J. Hum. Genet. 1996, 58:42-51.
-
(1996)
Am. J. Hum. Genet.
, vol.58
, pp. 42-51
-
-
Serova, O.1
-
27
-
-
21644487280
-
Understanding germ-line mutations in BRCA1
-
Szabo C.I., et al. Understanding germ-line mutations in BRCA1. Cancer Biol. Ther. 2004, 3:515-520.
-
(2004)
Cancer Biol. Ther.
, vol.3
, pp. 515-520
-
-
Szabo, C.I.1
-
28
-
-
47049115051
-
The NMD mRNA surveillance pathway downregulates aberrant E-cadherin transcripts in gastric cancer cells and in CDH1 mutation carriers
-
Karam R., et al. The NMD mRNA surveillance pathway downregulates aberrant E-cadherin transcripts in gastric cancer cells and in CDH1 mutation carriers. Oncogene 2008, 27:4255-4260.
-
(2008)
Oncogene
, vol.27
, pp. 4255-4260
-
-
Karam, R.1
-
29
-
-
79955004808
-
Mechanism of escape from nonsense-mediated mRNA decay of human beta-globin transcripts with nonsense mutations in the first exon
-
Neu-Yilik G., et al. Mechanism of escape from nonsense-mediated mRNA decay of human beta-globin transcripts with nonsense mutations in the first exon. RNA 2011, 17:843-854.
-
(2011)
RNA
, vol.17
, pp. 843-854
-
-
Neu-Yilik, G.1
-
30
-
-
0033968084
-
Nonsense mutations in the COL1A1 gene preferentially reduce nuclear levels of mRNA but not hnRNA in osteogenesis imperfecta type I cell strains
-
Slayton R.L., et al. Nonsense mutations in the COL1A1 gene preferentially reduce nuclear levels of mRNA but not hnRNA in osteogenesis imperfecta type I cell strains. Matrix Biol. 2000, 19:1-9.
-
(2000)
Matrix Biol.
, vol.19
, pp. 1-9
-
-
Slayton, R.L.1
-
31
-
-
1342327551
-
Gene therapy approaches for osteogenesis imperfecta
-
Niyibizi C., et al. Gene therapy approaches for osteogenesis imperfecta. Gene Ther. 2004, 11:408-416.
-
(2004)
Gene Ther.
, vol.11
, pp. 408-416
-
-
Niyibizi, C.1
-
32
-
-
84855342859
-
Suppression of nonsense mutations as a therapeutic approach to treat genetic diseases
-
Keeling K.M., Bedwell D.M. Suppression of nonsense mutations as a therapeutic approach to treat genetic diseases. Wiley Interdiscip. Rev. RNA 2011, 2:837-852.
-
(2011)
Wiley Interdiscip. Rev. RNA
, vol.2
, pp. 837-852
-
-
Keeling, K.M.1
Bedwell, D.M.2
-
33
-
-
0036848138
-
The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons
-
Perrin-Vidoz L., et al. The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons. Hum. Mol. Genet. 2002, 11:2805-2814.
-
(2002)
Hum. Mol. Genet.
, vol.11
, pp. 2805-2814
-
-
Perrin-Vidoz, L.1
-
34
-
-
0035057699
-
The ABC of APC
-
Fearnhead N.S., et al. The ABC of APC. Hum. Mol. Genet. 2001, 10:721-733.
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 721-733
-
-
Fearnhead, N.S.1
-
35
-
-
77955504657
-
Allele-specific expression of APC in adenomatous polyposis families
-
439-447, 447.e1
-
Castellsague E., et al. Allele-specific expression of APC in adenomatous polyposis families. Gastroenterology 2010, 139:439-447. 439-447, 447.e1.
-
(2010)
Gastroenterology
, vol.139
, pp. 439-447
-
-
Castellsague, E.1
-
36
-
-
33644748200
-
Aminoglycosides as potential pharmacogenetic agents in the treatment of Hailey-Hailey disease
-
Kellermayer R., et al. Aminoglycosides as potential pharmacogenetic agents in the treatment of Hailey-Hailey disease. J. Invest. Dermatol. 2006, 126:229-231.
-
(2006)
J. Invest. Dermatol.
, vol.126
, pp. 229-231
-
-
Kellermayer, R.1
-
37
-
-
39449127401
-
Drug-induced readthrough of premature stop codons leads to the stabilization of laminin α2 chain mRNA in CMD myotubes
-
Allamand V., et al. Drug-induced readthrough of premature stop codons leads to the stabilization of laminin α2 chain mRNA in CMD myotubes. J. Gene Med. 2008, 10:217-224.
-
(2008)
J. Gene Med.
, vol.10
, pp. 217-224
-
-
Allamand, V.1
-
38
-
-
34247588271
-
PTC124 targets genetic disorders caused by nonsense mutations
-
Welch E.M., et al. PTC124 targets genetic disorders caused by nonsense mutations. Nature 2007, 447:87-91.
-
(2007)
Nature
, vol.447
, pp. 87-91
-
-
Welch, E.M.1
-
39
-
-
0033749762
-
Suppression of eukaryotic translation termination by selected RNAs
-
Carnes J., et al. Suppression of eukaryotic translation termination by selected RNAs. RNA 2000, 6:1468-1479.
-
(2000)
RNA
, vol.6
, pp. 1468-1479
-
-
Carnes, J.1
-
40
-
-
0038813736
-
Stop codon suppression via inhibition of eRF1 expression
-
Carnes J., et al. Stop codon suppression via inhibition of eRF1 expression. RNA 2003, 9:648-653.
-
(2003)
RNA
, vol.9
, pp. 648-653
-
-
Carnes, J.1
-
41
-
-
0021909735
-
Amber, ochre and opal suppressor tRNA genes derived from a human serine tRNA gene
-
Capone J.P., et al. Amber, ochre and opal suppressor tRNA genes derived from a human serine tRNA gene. EMBO J. 1985, 4:213-221.
-
(1985)
EMBO J.
, vol.4
, pp. 213-221
-
-
Capone, J.P.1
-
42
-
-
79952210574
-
Mammalian models of Duchenne Muscular Dystrophy: pathological characteristics and therapeutic applications
-
Nakamura A., Takeda S. Mammalian models of Duchenne Muscular Dystrophy: pathological characteristics and therapeutic applications. J. Biomed. Biotechnol. 2011, 2011:184393.
-
(2011)
J. Biomed. Biotechnol.
, vol.2011
, pp. 184393
-
-
Nakamura, A.1
Takeda, S.2
-
43
-
-
33847360602
-
Nonsense-mediated mRNA decay affects nonsense transcript levels and governs response of cystic fibrosis patients to gentamicin
-
Linde L., et al. Nonsense-mediated mRNA decay affects nonsense transcript levels and governs response of cystic fibrosis patients to gentamicin. J. Clin. Invest. 2007, 117:683-692.
-
(2007)
J. Clin. Invest.
, vol.117
, pp. 683-692
-
-
Linde, L.1
-
44
-
-
35548950947
-
The efficiency of nonsense-mediated mRNA decay is an inherent character and varies among different cells
-
Linde L., et al. The efficiency of nonsense-mediated mRNA decay is an inherent character and varies among different cells. Eur. J. Hum. Genet. 2007, 15:1156-1162.
-
(2007)
Eur. J. Hum. Genet.
, vol.15
, pp. 1156-1162
-
-
Linde, L.1
-
45
-
-
1642447080
-
Leaky termination at premature stop codons antagonizes nonsense-mediated mRNA decay in S. cerevisiae
-
Keeling K.M., et al. Leaky termination at premature stop codons antagonizes nonsense-mediated mRNA decay in S. cerevisiae. RNA 2004, 10:691-703.
-
(2004)
RNA
, vol.10
, pp. 691-703
-
-
Keeling, K.M.1
-
46
-
-
36049007065
-
A novel therapeutic approach for genetic diseases by introduction of suppressor tRNA
-
Sako Y., et al. A novel therapeutic approach for genetic diseases by introduction of suppressor tRNA. Nucleic Acids Symp. Ser. (Oxf.) 2006, 50:239-240.
-
(2006)
Nucleic Acids Symp. Ser. (Oxf.)
, vol.50
, pp. 239-240
-
-
Sako, Y.1
-
47
-
-
37849013607
-
Designer aminoglycosides: the race to develop improved antibiotics and compounds for the treatment of human genetic diseases
-
Hainrichson M., et al. Designer aminoglycosides: the race to develop improved antibiotics and compounds for the treatment of human genetic diseases. Org. Biomol. Chem. 2008, 6:227-239.
-
(2008)
Org. Biomol. Chem.
, vol.6
, pp. 227-239
-
-
Hainrichson, M.1
-
48
-
-
33845935532
-
Translational readthrough induction of pathogenic nonsense mutations
-
Kellermayer R. Translational readthrough induction of pathogenic nonsense mutations. Eur. J. Med. Genet. 2006, 49:445-450.
-
(2006)
Eur. J. Med. Genet.
, vol.49
, pp. 445-450
-
-
Kellermayer, R.1
-
49
-
-
63149153320
-
Translational readthrough by the aminoglycoside geneticin (G418) modulates SMN stability in vitro and improves motor function in SMA mice in vivo
-
Heier C.R., DiDonato C.J. Translational readthrough by the aminoglycoside geneticin (G418) modulates SMN stability in vitro and improves motor function in SMA mice in vivo. Hum. Mol. Genet. 2009, 18:1310-1322.
-
(2009)
Hum. Mol. Genet.
, vol.18
, pp. 1310-1322
-
-
Heier, C.R.1
DiDonato, C.J.2
-
50
-
-
0347993773
-
Negamycin restores dystrophin expression in skeletal and cardiac muscles of mdx mice
-
Arakawa M., et al. Negamycin restores dystrophin expression in skeletal and cardiac muscles of mdx mice. J. Biochem. 2003, 134:751-758.
-
(2003)
J. Biochem.
, vol.134
, pp. 751-758
-
-
Arakawa, M.1
-
51
-
-
77953133544
-
Repairing faulty genes by aminoglycosides: development of new derivatives of geneticin (G418) with enhanced suppression of diseases-causing nonsense mutations
-
Nudelman I., et al. Repairing faulty genes by aminoglycosides: development of new derivatives of geneticin (G418) with enhanced suppression of diseases-causing nonsense mutations. Bioorg. Med. Chem. 2010, 18:3735-3746.
-
(2010)
Bioorg. Med. Chem.
, vol.18
, pp. 3735-3746
-
-
Nudelman, I.1
-
52
-
-
65649136885
-
Development of novel aminoglycoside (NB54) with reduced toxicity and enhanced suppression of disease-causing premature stop mutations
-
Nudelman I., et al. Development of novel aminoglycoside (NB54) with reduced toxicity and enhanced suppression of disease-causing premature stop mutations. J. Med. Chem. 2009, 52:2836-2845.
-
(2009)
J. Med. Chem.
, vol.52
, pp. 2836-2845
-
-
Nudelman, I.1
-
53
-
-
41149111377
-
PTC124 is an orally bioavailable compound that promotes suppression of the human CFTR-G542X nonsense allele in a CF mouse model
-
Du M., et al. PTC124 is an orally bioavailable compound that promotes suppression of the human CFTR-G542X nonsense allele in a CF mouse model. Proc. Natl. Acad. Sci. U.S.A. 2008, 105:2064-2069.
-
(2008)
Proc. Natl. Acad. Sci. U.S.A.
, vol.105
, pp. 2064-2069
-
-
Du, M.1
-
54
-
-
33947529670
-
Safety, tolerability, and pharmacokinetics of PTC124, a nonaminoglycoside nonsense mutation suppressor, following single- and multiple-dose administration to healthy male and female adult volunteers
-
Hirawat S., et al. Safety, tolerability, and pharmacokinetics of PTC124, a nonaminoglycoside nonsense mutation suppressor, following single- and multiple-dose administration to healthy male and female adult volunteers. J. Clin. Pharmacol. 2007, 47:430-444.
-
(2007)
J. Clin. Pharmacol.
, vol.47
, pp. 430-444
-
-
Hirawat, S.1
-
55
-
-
67651102792
-
Readthrough of nonsense mutation W822X in the SCN5A gene can effectively restore expression of cardiac Na+ channels
-
Teng S., et al. Readthrough of nonsense mutation W822X in the SCN5A gene can effectively restore expression of cardiac Na+ channels. Cardiovasc. Res. 2009, 83:473-480.
-
(2009)
Cardiovasc. Res.
, vol.83
, pp. 473-480
-
-
Teng, S.1
-
56
-
-
33846397818
-
Aminoglycosides and other factors promoting stop codon readthrough in human cells
-
Diop D., et al. Aminoglycosides and other factors promoting stop codon readthrough in human cells. C. R. Biol. 2007, 330:71-79.
-
(2007)
C. R. Biol.
, vol.330
, pp. 71-79
-
-
Diop, D.1
-
57
-
-
0034002603
-
Suppression of nonsense mutations in cell culture and mice by multimerized suppressor tRNA genes
-
Buvoli M., et al. Suppression of nonsense mutations in cell culture and mice by multimerized suppressor tRNA genes. Mol. Cell. Biol. 2000, 20:3116-3124.
-
(2000)
Mol. Cell. Biol.
, vol.20
, pp. 3116-3124
-
-
Buvoli, M.1
-
58
-
-
33846666638
-
Regulated translational bypass of stop codons in yeast
-
von der Haar T., Tuite M.F. Regulated translational bypass of stop codons in yeast. Trends Microbiol. 2007, 15:78-86.
-
(2007)
Trends Microbiol.
, vol.15
, pp. 78-86
-
-
von der Haar, T.1
Tuite, M.F.2
-
59
-
-
33745015242
-
In vivo incorporation of multiple unnatural amino acids through nonsense and frameshift suppression
-
Rodriguez E.A., et al. In vivo incorporation of multiple unnatural amino acids through nonsense and frameshift suppression. Proc. Natl. Acad. Sci. U.S.A. 2006, 103:8650-8655.
-
(2006)
Proc. Natl. Acad. Sci. U.S.A.
, vol.103
, pp. 8650-8655
-
-
Rodriguez, E.A.1
-
60
-
-
0033199744
-
Partial functional correction of xeroderma pigmentosum group A cells by suppressor tRNA
-
Panchal R.G., et al. Partial functional correction of xeroderma pigmentosum group A cells by suppressor tRNA. Hum. Gene Ther. 1999, 10:2209-2219.
-
(1999)
Hum. Gene Ther.
, vol.10
, pp. 2209-2219
-
-
Panchal, R.G.1
-
61
-
-
77956663450
-
NMD: RNA biology meets human genetic medicine
-
Bhuvanagiri M., et al. NMD: RNA biology meets human genetic medicine. Biochem. J. 2010, 430:365-377.
-
(2010)
Biochem. J.
, vol.430
, pp. 365-377
-
-
Bhuvanagiri, M.1
-
62
-
-
77955111132
-
In vitro incorporation of nonnatural amino acids into protein using tRNA(Cys)-derived opal, ochre, and amber suppressor tRNAs
-
Gubbens J., et al. In vitro incorporation of nonnatural amino acids into protein using tRNA(Cys)-derived opal, ochre, and amber suppressor tRNAs. RNA 2010, 16:1660-1672.
-
(2010)
RNA
, vol.16
, pp. 1660-1672
-
-
Gubbens, J.1
-
63
-
-
8544253956
-
A faux 3'-UTR promotes aberrant termination and triggers nonsense-mediated mRNA decay
-
Amrani N., et al. A faux 3'-UTR promotes aberrant termination and triggers nonsense-mediated mRNA decay. Nature 2004, 432:112-118.
-
(2004)
Nature
, vol.432
, pp. 112-118
-
-
Amrani, N.1
-
64
-
-
64549134676
-
Nonviral vectors for gene delivery
-
Mintzer M.A., Simanek E.E. Nonviral vectors for gene delivery. Chem. Rev. 2009, 109:259-302.
-
(2009)
Chem. Rev.
, vol.109
, pp. 259-302
-
-
Mintzer, M.A.1
Simanek, E.E.2
-
65
-
-
77952239026
-
Targeted gene delivery into peripheral sensorial neurons mediated by self-assembled vectors composed of poly(ethylene imine) and tetanus toxin fragment c
-
Oliveira H., et al. Targeted gene delivery into peripheral sensorial neurons mediated by self-assembled vectors composed of poly(ethylene imine) and tetanus toxin fragment c. J. Control. Release 2010, 143:350-358.
-
(2010)
J. Control. Release
, vol.143
, pp. 350-358
-
-
Oliveira, H.1
-
66
-
-
81855170441
-
Nanomedicine(s) under the microscope
-
Duncan R., Gaspar R. Nanomedicine(s) under the microscope. Mol. Pharm. 2011, 8:2101-2141.
-
(2011)
Mol. Pharm.
, vol.8
, pp. 2101-2141
-
-
Duncan, R.1
Gaspar, R.2
-
67
-
-
77950837290
-
Restoration of APC gene function in colorectal cancer cells by aminoglycoside- and macrolide-induced read-through of premature termination codons
-
Zilberberg A., et al. Restoration of APC gene function in colorectal cancer cells by aminoglycoside- and macrolide-induced read-through of premature termination codons. Gut 2010, 59:496-507.
-
(2010)
Gut
, vol.59
, pp. 496-507
-
-
Zilberberg, A.1
-
68
-
-
0035997219
-
Clinically relevant aminoglycosides can suppress disease-associated premature stop mutations in the IDUA and P53 cDNAs in a mammalian translation system
-
Keeling K.M., Bedwell D.M. Clinically relevant aminoglycosides can suppress disease-associated premature stop mutations in the IDUA and P53 cDNAs in a mammalian translation system. J. Mol. Med. (Berl.) 2002, 80:367-376.
-
(2002)
J. Mol. Med. (Berl.)
, vol.80
, pp. 367-376
-
-
Keeling, K.M.1
Bedwell, D.M.2
-
69
-
-
79955588050
-
Rescue of non-sense mutated p53 tumor suppressor gene by aminoglycosides
-
Floquet C., et al. Rescue of non-sense mutated p53 tumor suppressor gene by aminoglycosides. Nucleic Acids Res. 2011, 39:3350-3362.
-
(2011)
Nucleic Acids Res.
, vol.39
, pp. 3350-3362
-
-
Floquet, C.1
-
70
-
-
54949124637
-
Endoplasmic reticulum quality control: a new mechanism of E-cadherin regulation and its implication in cancer
-
Simoes-Correia J., et al. Endoplasmic reticulum quality control: a new mechanism of E-cadherin regulation and its implication in cancer. Hum. Mol. Genet. 2008, 17:3566-3576.
-
(2008)
Hum. Mol. Genet.
, vol.17
, pp. 3566-3576
-
-
Simoes-Correia, J.1
-
71
-
-
64049089800
-
E-cadherin mutations and cell motility: a genotype-phenotype correlation
-
Mateus A.R., et al. E-cadherin mutations and cell motility: a genotype-phenotype correlation. Exp. Cell Res. 2009, 315:1393-1402.
-
(2009)
Exp. Cell Res.
, vol.315
, pp. 1393-1402
-
-
Mateus, A.R.1
-
72
-
-
80051508756
-
ADP-ribosylation factor 6 mediates E-cadherin recovery by chemical chaperones
-
Figueiredo J., et al. ADP-ribosylation factor 6 mediates E-cadherin recovery by chemical chaperones. PLoS ONE 2011, 6:e23188.
-
(2011)
PLoS ONE
, vol.6
-
-
Figueiredo, J.1
-
73
-
-
84859593945
-
A new understanding of the decoding principle on the ribosome
-
Demeshkina N., et al. A new understanding of the decoding principle on the ribosome. Nature 2012, 484:256-259.
-
(2012)
Nature
, vol.484
, pp. 256-259
-
-
Demeshkina, N.1
-
74
-
-
0034982292
-
Gentamicin treatment of Duchenne and Becker muscular dystrophy due to nonsense mutations
-
Wagner K.R., et al. Gentamicin treatment of Duchenne and Becker muscular dystrophy due to nonsense mutations. Ann. Neurol. 2001, 49:706-711.
-
(2001)
Ann. Neurol.
, vol.49
, pp. 706-711
-
-
Wagner, K.R.1
-
75
-
-
0043092426
-
Gentamicin administration in Duchenne patients with premature stop codon. Preliminary results
-
Politano L., et al. Gentamicin administration in Duchenne patients with premature stop codon. Preliminary results. Acta Myol. 2003, 22:15-21.
-
(2003)
Acta Myol.
, vol.22
, pp. 15-21
-
-
Politano, L.1
-
76
-
-
77952938084
-
Gentamicin-induced readthrough of stop codons in Duchenne muscular dystrophy
-
Malik V., et al. Gentamicin-induced readthrough of stop codons in Duchenne muscular dystrophy. Ann. Neurol. 2010, 67:771-780.
-
(2010)
Ann. Neurol.
, vol.67
, pp. 771-780
-
-
Malik, V.1
-
77
-
-
0034073736
-
A pilot study of the effect of gentamicin on nasal potential difference measurements in cystic fibrosis patients carrying stop mutations
-
Wilschanski M., et al. A pilot study of the effect of gentamicin on nasal potential difference measurements in cystic fibrosis patients carrying stop mutations. Am. J. Respir. Crit. Care Med. 2000, 161:860-865.
-
(2000)
Am. J. Respir. Crit. Care Med.
, vol.161
, pp. 860-865
-
-
Wilschanski, M.1
-
78
-
-
0034961464
-
Evidence that systemic gentamicin suppresses premature stop mutations in patients with cystic fibrosis
-
Clancy J.P., et al. Evidence that systemic gentamicin suppresses premature stop mutations in patients with cystic fibrosis. Am. J. Respir. Crit. Care Med. 2001, 163:1683-1692.
-
(2001)
Am. J. Respir. Crit. Care Med.
, vol.163
, pp. 1683-1692
-
-
Clancy, J.P.1
-
79
-
-
0141863491
-
Gentamicin-induced correction of CFTR function in patients with cystic fibrosis and CFTR stop mutations
-
Wilschanski M., et al. Gentamicin-induced correction of CFTR function in patients with cystic fibrosis and CFTR stop mutations. N. Engl. J. Med. 2003, 349:1433-1441.
-
(2003)
N. Engl. J. Med.
, vol.349
, pp. 1433-1441
-
-
Wilschanski, M.1
-
80
-
-
34347224756
-
No detectable improvements in cystic fibrosis transmembrane conductance regulator by nasal aminoglycosides in patients with cystic fibrosis with stop mutations
-
Clancy J.P., et al. No detectable improvements in cystic fibrosis transmembrane conductance regulator by nasal aminoglycosides in patients with cystic fibrosis with stop mutations. Am. J. Respir. Cell Mol. Biol. 2007, 37:57-66.
-
(2007)
Am. J. Respir. Cell Mol. Biol.
, vol.37
, pp. 57-66
-
-
Clancy, J.P.1
-
81
-
-
34247200483
-
In vitro prediction of stop-codon suppression by intravenous gentamicin in patients with cystic fibrosis: a pilot study
-
Sermet-Gaudelus I., et al. In vitro prediction of stop-codon suppression by intravenous gentamicin in patients with cystic fibrosis: a pilot study. BMC Med. 2007, 5:5.
-
(2007)
BMC Med.
, vol.5
, pp. 5
-
-
Sermet-Gaudelus, I.1
-
82
-
-
50149098401
-
Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: a prospective phase II trial
-
Kerem E., et al. Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: a prospective phase II trial. Lancet 2008, 372:719-727.
-
(2008)
Lancet
, vol.372
, pp. 719-727
-
-
Kerem, E.1
-
83
-
-
78349290383
-
Ataluren (PTC124) induces cystic fibrosis transmembrane conductance regulator protein expression and activity in children with nonsense mutation cystic fibrosis
-
Sermet-Gaudelus I., et al. Ataluren (PTC124) induces cystic fibrosis transmembrane conductance regulator protein expression and activity in children with nonsense mutation cystic fibrosis. Am. J. Respir. Crit. Care Med. 2010, 182:1262-1272.
-
(2010)
Am. J. Respir. Crit. Care Med.
, vol.182
, pp. 1262-1272
-
-
Sermet-Gaudelus, I.1
-
84
-
-
79960187095
-
Chronic ataluren (PTC124) treatment of nonsense mutation cystic fibrosis
-
Wilschanski M., et al. Chronic ataluren (PTC124) treatment of nonsense mutation cystic fibrosis. Eur. Respir. J. 2011, 38:59-69.
-
(2011)
Eur. Respir. J.
, vol.38
, pp. 59-69
-
-
Wilschanski, M.1
-
85
-
-
27644488290
-
Aminoglycoside suppression of nonsense mutations in severe hemophilia
-
James P.D., et al. Aminoglycoside suppression of nonsense mutations in severe hemophilia. Blood 2005, 106:3043-3048.
-
(2005)
Blood
, vol.106
, pp. 3043-3048
-
-
James, P.D.1
-
86
-
-
33746611902
-
Gentamicin induces sub-therapeutic levels of coagulation factor VII in patients with nonsense mutations
-
Pinotti M., et al. Gentamicin induces sub-therapeutic levels of coagulation factor VII in patients with nonsense mutations. J. Thromb. Haemost. 2006, 4:1828-1830.
-
(2006)
J. Thromb. Haemost.
, vol.4
, pp. 1828-1830
-
-
Pinotti, M.1
-
87
-
-
33644889412
-
Gentamicin treatment in McArdle disease: failure to correct myophosphorylase deficiency
-
Schroers A., et al. Gentamicin treatment in McArdle disease: failure to correct myophosphorylase deficiency. Neurology 2006, 66:285-286.
-
(2006)
Neurology
, vol.66
, pp. 285-286
-
-
Schroers, A.1
-
88
-
-
78649523122
-
The effect of gentamicin-induced readthrough on a novel premature termination codon of CD18 leukocyte adhesion deficiency patients
-
Simon A.J., et al. The effect of gentamicin-induced readthrough on a novel premature termination codon of CD18 leukocyte adhesion deficiency patients. PLoS ONE 2010, 5:e13659.
-
(2010)
PLoS ONE
, vol.5
-
-
Simon, A.J.1
|