-
2
-
-
84884416457
-
Rare-disease genetics in the era of next-generation sequencing: Discovery to translation
-
K.M. Boycott Rare-disease genetics in the era of next-generation sequencing: discovery to translation Nat. Rev. Genet. 14 2013 681 691
-
(2013)
Nat. Rev. Genet.
, vol.14
, pp. 681-691
-
-
Boycott, K.M.1
-
3
-
-
84859326107
-
Rare diseases and orphan drugs
-
I. Melnikova Rare diseases and orphan drugs Nat. Rev. Drug Discov. 11 2012 267 268
-
(2012)
Nat. Rev. Drug Discov.
, vol.11
, pp. 267-268
-
-
Melnikova, I.1
-
4
-
-
44849140430
-
Gene therapy of inherited diseases
-
A. Fischer, and M. Cavazzana-Calvo Gene therapy of inherited diseases Lancet 371 2008 2044 2047
-
(2008)
Lancet
, vol.371
, pp. 2044-2047
-
-
Fischer, A.1
Cavazzana-Calvo, M.2
-
5
-
-
33645127443
-
Genetic medicines: Treatment strategies for hereditary disorders
-
T.P. O'Connor, and R.G. Crystal Genetic medicines: treatment strategies for hereditary disorders Nat. Rev. Genet. 7 2006 261 276
-
(2006)
Nat. Rev. Genet.
, vol.7
, pp. 261-276
-
-
O'Connor, T.P.1
Crystal, R.G.2
-
6
-
-
84893431595
-
Progeria: A paradigm for translational medicine
-
L.B. Gordon Progeria: a paradigm for translational medicine Cell 156 2014 400 407
-
(2014)
Cell
, vol.156
, pp. 400-407
-
-
Gordon, L.B.1
-
7
-
-
84864128700
-
The future of orphan drug development
-
J. Woodcock The future of orphan drug development Clin. Pharmacol. Ther. 92 2012 146 148
-
(2012)
Clin. Pharmacol. Ther.
, vol.92
, pp. 146-148
-
-
Woodcock, J.1
-
8
-
-
77956030786
-
Inhibition of mutated, activated BRAF in metastatic melanoma
-
K.T. Flaherty Inhibition of mutated, activated BRAF in metastatic melanoma N. Engl. J. Med. 363 2010 809 819
-
(2010)
N. Engl. J. Med.
, vol.363
, pp. 809-819
-
-
Flaherty, K.T.1
-
9
-
-
79959795786
-
Improved survival with vemurafenib in melanoma with BRAF V600E mutation
-
P.B. Chapman Improved survival with vemurafenib in melanoma with BRAF V600E mutation N. Engl. J. Med. 364 2011 2507 2516
-
(2011)
N. Engl. J. Med.
, vol.364
, pp. 2507-2516
-
-
Chapman, P.B.1
-
10
-
-
84863116743
-
Survival in BRAF V600-mutant advanced melanoma treated with vemurafenib
-
J.A. Sosman Survival in BRAF V600-mutant advanced melanoma treated with vemurafenib N. Engl. J. Med. 366 2012 707 714
-
(2012)
N. Engl. J. Med.
, vol.366
, pp. 707-714
-
-
Sosman, J.A.1
-
11
-
-
67149130229
-
Repurposing with a difference
-
M.S. Boguski Repurposing with a difference Science 324 2009 1394 1395
-
(2009)
Science
, vol.324
, pp. 1394-1395
-
-
Boguski, M.S.1
-
12
-
-
8344277490
-
Are the economics of pharmaceutical research and development changing?
-
H. Grabowski Are the economics of pharmaceutical research and development changing? Pharmacoeconomics 22 2004 15 24
-
(2004)
Pharmacoeconomics
, vol.22
, pp. 15-24
-
-
Grabowski, H.1
-
13
-
-
79960775459
-
Drug repositioning for orphan diseases
-
D. Sardana Drug repositioning for orphan diseases Brief Bioinform. 12 2011 346 356
-
(2011)
Brief Bioinform.
, vol.12
, pp. 346-356
-
-
Sardana, D.1
-
14
-
-
84856633096
-
Can medical genetics and evolutionary biology inspire drug target identification?
-
Z.Y. Wang Can medical genetics and evolutionary biology inspire drug target identification? Trends Mol. Med. 18 2011 69 71
-
(2011)
Trends Mol. Med.
, vol.18
, pp. 69-71
-
-
Wang, Z.Y.1
-
15
-
-
33645128686
-
Human monogenic disorders: A source of novel drug targets
-
R.R. Brinkman Human monogenic disorders: a source of novel drug targets Nat. Rev. Genet. 7 2006 249 260
-
(2006)
Nat. Rev. Genet.
, vol.7
, pp. 249-260
-
-
Brinkman, R.R.1
-
16
-
-
84881315517
-
Validating therapeutic targets through human genetics
-
R.M. Plenge Validating therapeutic targets through human genetics Nat. Rev. Drug Discov. 12 2013 581 594
-
(2013)
Nat. Rev. Drug Discov.
, vol.12
, pp. 581-594
-
-
Plenge, R.M.1
-
17
-
-
37549014926
-
What is the role of radiotherapy in the treatment of mucosal melanoma of the head and neck?
-
M. Krengli What is the role of radiotherapy in the treatment of mucosal melanoma of the head and neck? Crit. Rev. Oncol. Hematol. 65 2008 121 128
-
(2008)
Crit. Rev. Oncol. Hematol.
, vol.65
, pp. 121-128
-
-
Krengli, M.1
-
18
-
-
20244389231
-
Somatic mutations of EGFR gene in squamous cell carcinoma of the head and neck
-
J.W. Lee Somatic mutations of EGFR gene in squamous cell carcinoma of the head and neck Clin. Cancer Res. 11 2005 2879 2882
-
(2005)
Clin. Cancer Res.
, vol.11
, pp. 2879-2882
-
-
Lee, J.W.1
-
19
-
-
78651540936
-
Molecular mechanism of the schedule-dependent synergistic interaction in EGFR-mutant non-small cell lung cancer cell lines treated with paclitaxel and gefitinib
-
H. Cheng Molecular mechanism of the schedule-dependent synergistic interaction in EGFR-mutant non-small cell lung cancer cell lines treated with paclitaxel and gefitinib J. Hematol. Oncol. 4 2011 5 17
-
(2011)
J. Hematol. Oncol.
, vol.4
, pp. 5-17
-
-
Cheng, H.1
-
20
-
-
20644433937
-
Establishment of a human non-small cell lung cancer cell line resistant to gefitinib
-
F. Koizumi Establishment of a human non-small cell lung cancer cell line resistant to gefitinib Int. J. Cancer 116 2005 36 44
-
(2005)
Int. J. Cancer
, vol.116
, pp. 36-44
-
-
Koizumi, F.1
-
21
-
-
85027926988
-
BIM induction of apoptosis triggered by EGFR-sensitive and resistance cell lines of non-small-cell lung cancer
-
Z. Li BIM induction of apoptosis triggered by EGFR-sensitive and resistance cell lines of non-small-cell lung cancer Med. Oncol. 28 2011 572 577
-
(2011)
Med. Oncol.
, vol.28
, pp. 572-577
-
-
Li, Z.1
-
22
-
-
0037109014
-
ZD1839 (Iressa) an orally active inhibitor of epidermal growth factor signaling with potential for cancer therapy
-
A.E. Wakeling ZD1839 (Iressa) an orally active inhibitor of epidermal growth factor signaling with potential for cancer therapy Cancer Res. 62 2002 5749 5754
-
(2002)
Cancer Res.
, vol.62
, pp. 5749-5754
-
-
Wakeling, A.E.1
-
23
-
-
33751533892
-
International Union of Pharmacology. LXI. Peroxisome proliferator-activated receptors
-
L. Michalik International Union of Pharmacology. LXI. Peroxisome proliferator-activated receptors Pharmacol. Rev. 58 2006 726 741
-
(2006)
Pharmacol. Rev.
, vol.58
, pp. 726-741
-
-
Michalik, L.1
-
24
-
-
0036016002
-
Genetic determinants of the response to bezafibrate treatment in the lower extremity arterial disease event reduction (LEADER) trial
-
Y. Jamshidi Genetic determinants of the response to bezafibrate treatment in the lower extremity arterial disease event reduction (LEADER) trial Atherosclerosis 163 2002 183 192
-
(2002)
Atherosclerosis
, vol.163
, pp. 183-192
-
-
Jamshidi, Y.1
-
25
-
-
62749097983
-
Differences in transcriptional activation by the two allelic (L162V polymorphic) variants of PPARα after omega-3 fatty acids treatment
-
I. Rudkowska Differences in transcriptional activation by the two allelic (L162V polymorphic) variants of PPARα after omega-3 fatty acids treatment PPAR Res. 2009 2009 369602
-
(2009)
PPAR Res.
, vol.2009
, pp. 369602
-
-
Rudkowska, I.1
-
26
-
-
84890046462
-
Rational drug repositioning by medical genetics
-
Z-Y. Wang, and H-Y. Zhang Rational drug repositioning by medical genetics Nat. Biotechnol. 31 2013 1080 1082
-
(2013)
Nat. Biotechnol.
, vol.31
, pp. 1080-1082
-
-
Wang, Z.-Y.1
Zhang, H.-Y.2
-
27
-
-
84896534505
-
Structural and energetic analyses of SNPs in drug targets and implications for drug therapy
-
H-Y. Sun Structural and energetic analyses of SNPs in drug targets and implications for drug therapy J. Chem. Inf. Model. 53 2013 3343 3351
-
(2013)
J. Chem. Inf. Model.
, vol.53
, pp. 3343-3351
-
-
Sun, H.-Y.1
-
28
-
-
0035800507
-
Clinical resistance to STI-571 cancer therapy caused by BCR-ABL gene mutation or amplification
-
M.E. Gorre Clinical resistance to STI-571 cancer therapy caused by BCR-ABL gene mutation or amplification Science 293 2001 876 880
-
(2001)
Science
, vol.293
, pp. 876-880
-
-
Gorre, M.E.1
-
29
-
-
0001686739
-
Multiple BCR-ABL kinase domain mutations confer polyclonal resistance to the tyrosine kinase inhibitor imatinib (STI571) in chronic phase and blast crisis chronic myeloid leukemia
-
N.P. Shah Multiple BCR-ABL kinase domain mutations confer polyclonal resistance to the tyrosine kinase inhibitor imatinib (STI571) in chronic phase and blast crisis chronic myeloid leukemia Cancer Cell 2 2002 117 125
-
(2002)
Cancer Cell
, vol.2
, pp. 117-125
-
-
Shah, N.P.1
-
30
-
-
33749325184
-
Comparison of imatinib mesylate, dasatinib (BMS-354825), and nilotinib (AMN107) in an N-ethyl-N-nitrosourea (ENU)-based mutagenesis screen: High efficacy of drug combinations
-
H.A. Bradeen Comparison of imatinib mesylate, dasatinib (BMS-354825), and nilotinib (AMN107) in an N-ethyl-N-nitrosourea (ENU)-based mutagenesis screen: high efficacy of drug combinations Blood 108 2006 2332 2338
-
(2006)
Blood
, vol.108
, pp. 2332-2338
-
-
Bradeen, H.A.1
-
31
-
-
84863010950
-
Three-dimensional reconstruction of protein networks provides insight into human genetic disease
-
X. Wang Three-dimensional reconstruction of protein networks provides insight into human genetic disease Nat. Biotechnol. 30 2012 159 164
-
(2012)
Nat. Biotechnol.
, vol.30
, pp. 159-164
-
-
Wang, X.1
-
32
-
-
79952588669
-
Assessing the performance of the MM/PBSA and MM/GBSA methods. I. The accuracy of binding free energy calculations based on molecular dynamics simulations
-
T. Hou Assessing the performance of the MM/PBSA and MM/GBSA methods. I. The accuracy of binding free energy calculations based on molecular dynamics simulations J. Chem. Inf. Model. 51 2011 69 82
-
(2011)
J. Chem. Inf. Model.
, vol.51
, pp. 69-82
-
-
Hou, T.1
-
33
-
-
0037143096
-
Broadened ligand responsiveness of androgen receptor mutants obtained by random amino acid substitution of H874 and mutation hot spot T877 in prostate cancer
-
K. Steketee Broadened ligand responsiveness of androgen receptor mutants obtained by random amino acid substitution of H874 and mutation hot spot T877 in prostate cancer Int. J. Cancer 100 2002 309 317
-
(2002)
Int. J. Cancer
, vol.100
, pp. 309-317
-
-
Steketee, K.1
-
34
-
-
28744448123
-
Hormone treatment for prostate cancer: Current issues and future directions
-
T. Ichikawa Hormone treatment for prostate cancer: current issues and future directions Cancer Chemother. Pharmacol. 56 2005 58 63
-
(2005)
Cancer Chemother. Pharmacol.
, vol.56
, pp. 58-63
-
-
Ichikawa, T.1
-
35
-
-
33846347711
-
The androgen receptor T877A mutant recruits LXXLL and FXXLF peptides differently than wild-type androgen receptor in a time-resolved fluorescence resonance energy transfer assay
-
M.S. Ozers The androgen receptor T877A mutant recruits LXXLL and FXXLF peptides differently than wild-type androgen receptor in a time-resolved fluorescence resonance energy transfer assay Biochemistry 46 2007 683 695
-
(2007)
Biochemistry
, vol.46
, pp. 683-695
-
-
Ozers, M.S.1
-
36
-
-
4444344330
-
EGF receptor gene mutations are common in lung cancers from 'never smokers' and are associated with sensitivity of tumors to gefitinib and erlotinib
-
W. Pao EGF receptor gene mutations are common in lung cancers from 'never smokers' and are associated with sensitivity of tumors to gefitinib and erlotinib Proc. Natl. Acad. Sci. U. S. A. 101 2004 13306 13311
-
(2004)
Proc. Natl. Acad. Sci. U. S. A.
, vol.101
, pp. 13306-13311
-
-
Pao, W.1
-
37
-
-
2342624080
-
EGFR mutations in lung cancer: Correlation with clinical response to gefitinib therapy
-
J.G. Paez EGFR mutations in lung cancer: correlation with clinical response to gefitinib therapy Science 304 2004 1497 1500
-
(2004)
Science
, vol.304
, pp. 1497-1500
-
-
Paez, J.G.1
-
38
-
-
33744788136
-
The impact of human EGFR kinase domain mutations on lung tumorigenesis and in vivo sensitivity to EGFR-targeted therapies
-
H. Ji The impact of human EGFR kinase domain mutations on lung tumorigenesis and in vivo sensitivity to EGFR-targeted therapies Cancer Cell 9 2006 485 495
-
(2006)
Cancer Cell
, vol.9
, pp. 485-495
-
-
Ji, H.1
-
39
-
-
0034617130
-
Activating mineralocorticoid receptor mutation in hypertension exacerbated by pregnancy
-
D.S. Geller Activating mineralocorticoid receptor mutation in hypertension exacerbated by pregnancy Science 289 2000 119 123
-
(2000)
Science
, vol.289
, pp. 119-123
-
-
Geller, D.S.1
-
40
-
-
22344444725
-
The ligand-dependent interaction of mineralocorticoid receptor with coactivator and corepressor peptides suggests multiple activation mechanisms
-
M.L. Hultman The ligand-dependent interaction of mineralocorticoid receptor with coactivator and corepressor peptides suggests multiple activation mechanisms Mol. Endocrinol. 19 2005 1460 1473
-
(2005)
Mol. Endocrinol.
, vol.19
, pp. 1460-1473
-
-
Hultman, M.L.1
-
41
-
-
33748066632
-
Kinetic analysis of epidermal growth factor receptor somatic mutant proteins shows increased sensitivity to the epidermal growth factor receptor tyrosine kinase inhibitor, erlotinib
-
K.D. Carey Kinetic analysis of epidermal growth factor receptor somatic mutant proteins shows increased sensitivity to the epidermal growth factor receptor tyrosine kinase inhibitor, erlotinib Cancer Res. 66 2006 8163 8171
-
(2006)
Cancer Res.
, vol.66
, pp. 8163-8171
-
-
Carey, K.D.1
-
42
-
-
33846465419
-
Pharmacology and signaling properties of epidermal growth factor receptor isoforms studied by bioluminescence resonance energy transfer
-
H.H. Schiffer Pharmacology and signaling properties of epidermal growth factor receptor isoforms studied by bioluminescence resonance energy transfer Mol. Pharmacol. 71 2007 508 518
-
(2007)
Mol. Pharmacol.
, vol.71
, pp. 508-518
-
-
Schiffer, H.H.1
-
43
-
-
59449097754
-
Functional analysis of epidermal growth factor receptor (EGFR) mutations and potential implications for EGFR targeted therapy
-
R.K. Kancha Functional analysis of epidermal growth factor receptor (EGFR) mutations and potential implications for EGFR targeted therapy Clin. Cancer Res. 15 2009 460 467
-
(2009)
Clin. Cancer Res.
, vol.15
, pp. 460-467
-
-
Kancha, R.K.1
-
44
-
-
40049099220
-
The T790M mutation in EGFR kinase causes drug resistance by increasing the affinity for ATP
-
C-H. Yun The T790M mutation in EGFR kinase causes drug resistance by increasing the affinity for ATP Proc. Natl. Acad. Sci. U. S. A. 105 2008 2070 2075
-
(2008)
Proc. Natl. Acad. Sci. U. S. A.
, vol.105
, pp. 2070-2075
-
-
Yun, C.-H.1
-
45
-
-
33847406095
-
Structures of lung cancer-derived EGFR mutants and inhibitor complexes: Mechanism of activation and insights into differential inhibitor sensitivity
-
C-H. Yun Structures of lung cancer-derived EGFR mutants and inhibitor complexes: mechanism of activation and insights into differential inhibitor sensitivity Cancer Cell 11 2007 217 227
-
(2007)
Cancer Cell
, vol.11
, pp. 217-227
-
-
Yun, C.-H.1
|