-
1
-
-
0037903275
-
Human Gene Mutation Database (HGMD): 2003 update
-
P.D. Stenson, E.V. Ball, M. Mort, A.D. Phillips, J.A. Shiel, N.S. Thomas, S. Abeysinghe, M. Krawczak, and D.N. Cooper Human Gene Mutation Database (HGMD): 2003 update Hum. Mutat. 21 2003 577 581
-
(2003)
Hum. Mutat.
, vol.21
, pp. 577-581
-
-
Stenson, P.D.1
Ball, E.V.2
Mort, M.3
Phillips, A.D.4
Shiel, J.A.5
Thomas, N.S.6
Abeysinghe, S.7
Krawczak, M.8
Cooper, D.N.9
-
2
-
-
0036713510
-
Human non-synonymous SNPs: Server and survey
-
V. Ramensky, P. Bork, and S. Sunyaev Human non-synonymous SNPs: server and survey Nucleic Acids Res. 30 2002 3894 3900
-
(2002)
Nucleic Acids Res.
, vol.30
, pp. 3894-3900
-
-
Ramensky, V.1
Bork, P.2
Sunyaev, S.3
-
3
-
-
0036119504
-
Accounting for human polymorphisms predicted to affect protein function
-
P.C. Ng, and S. Henikoff Accounting for human polymorphisms predicted to affect protein function Genome Res. 12 2002 436 446
-
(2002)
Genome Res.
, vol.12
, pp. 436-446
-
-
Ng, P.C.1
Henikoff, S.2
-
4
-
-
20844461337
-
LS-SNP: Large-scale annotation of coding non-synonymous SNPs based on multiple information sources
-
R. Karchin, M. Diekhans, L. Kelly, D.J. Thomas, U. Pieper, N. Eswar, D. Haussler, and A. Sali LS-SNP: large-scale annotation of coding non-synonymous SNPs based on multiple information sources Bioinformatics 21 2005 2814 2820
-
(2005)
Bioinformatics
, vol.21
, pp. 2814-2820
-
-
Karchin, R.1
Diekhans, M.2
Kelly, L.3
Thomas, D.J.4
Pieper, U.5
Eswar, N.6
Haussler, D.7
Sali, A.8
-
5
-
-
0037468254
-
Detailed computational study of p53 and p16: Using evolutionary sequence analysis and disease-associated mutations to predict the functional consequences of allelic variants
-
M.S. Greenblatt, J.G. Beaudet, J.R. Gump, K.S. Godin, L. Trombley, J. Koh, and J.P. Bond Detailed computational study of p53 and p16: using evolutionary sequence analysis and disease-associated mutations to predict the functional consequences of allelic variants Oncogene 22 2003 1150 1163
-
(2003)
Oncogene
, vol.22
, pp. 1150-1163
-
-
Greenblatt, M.S.1
Beaudet, J.G.2
Gump, J.R.3
Godin, K.S.4
Trombley, L.5
Koh, J.6
Bond, J.P.7
-
6
-
-
0033531266
-
Evolutionary conservation and somatic mutation hotspot maps of p53: Correlation with p53 protein structural and functional features
-
D.R. Walker, J.P. Bond, R.E. Tarone, C.C. Harris, W. Makalowski, M.S. Boguski, and M.S. Greenblatt Evolutionary conservation and somatic mutation hotspot maps of p53: correlation with p53 protein structural and functional features Oncogene 18 1999 211 218
-
(1999)
Oncogene
, vol.18
, pp. 211-218
-
-
Walker, D.R.1
Bond, J.P.2
Tarone, R.E.3
Harris, C.C.4
Makalowski, W.5
Boguski, M.S.6
Greenblatt, M.S.7
-
7
-
-
0242362185
-
Three-dimensional structural location and molecular functional effects of missense SNPs in the T cell receptor Vbeta domain
-
Z. Wang, and J. Moult Three-dimensional structural location and molecular functional effects of missense SNPs in the T cell receptor Vbeta domain Proteins 53 2003 748 757
-
(2003)
Proteins
, vol.53
, pp. 748-757
-
-
Wang, Z.1
Moult, J.2
-
8
-
-
0035872462
-
TP53 mutations in breast cancer associated with BRCA1 or BRCA2 germ-line mutations: Distinctive spectrum and structural distribution
-
M.S. Greenblatt, P.O. Chappuis, J.P. Bond, N. Hamel, and W.D. Foulkes TP53 mutations in breast cancer associated with BRCA1 or BRCA2 germ-line mutations: distinctive spectrum and structural distribution Cancer Res. 61 2001 4092 4097
-
(2001)
Cancer Res.
, vol.61
, pp. 4092-4097
-
-
Greenblatt, M.S.1
Chappuis, P.O.2
Bond, J.P.3
Hamel, N.4
Foulkes, W.D.5
-
9
-
-
5044232709
-
The CDKN2A database: Integrating allelic variants with evolution, structure, function, and disease association
-
J.A. Murphy, R. Barrantes-Reynolds, R. Kocherlakota, J.P. Bond, and M.S. Greenblatt The CDKN2A database: integrating allelic variants with evolution, structure, function, and disease association Hum. Mutat. 24 2004 296 304
-
(2004)
Hum. Mutat.
, vol.24
, pp. 296-304
-
-
Murphy, J.A.1
Barrantes-Reynolds, R.2
Kocherlakota, R.3
Bond, J.P.4
Greenblatt, M.S.5
-
10
-
-
0035150226
-
TRITON: Graphic software for rational engineering of enzymes
-
J. Dambosky, M. Prokop, and J. Koca TRITON: graphic software for rational engineering of enzymes Trends Biochem. Sci. 26 2001 71 73
-
(2001)
Trends Biochem. Sci.
, vol.26
, pp. 71-73
-
-
Dambosky, J.1
Prokop, M.2
Koca, J.3
-
11
-
-
0032991552
-
Characterization of single-nucleotide polymorphisms in coding regions of human genes
-
M. Cargill, D. Altshuler, J. Ireland, P. Sklar, K. Ardlie, N. Patil, N. Shaw, C.R. Lane, E.P. Lim, and N. Kalyanaraman Characterization of single-nucleotide polymorphisms in coding regions of human genes Nat. Genet. 22 1999 231 238
-
(1999)
Nat. Genet.
, vol.22
, pp. 231-238
-
-
Cargill, M.1
Altshuler, D.2
Ireland, J.3
Sklar, P.4
Ardlie, K.5
Patil, N.6
Shaw, N.7
Lane, C.R.8
Lim, E.P.9
Kalyanaraman, N.10
-
12
-
-
15944417881
-
Improving functional annotation of non-synonomous SNPs with information theory
-
R. Karchin, L. Kelly, and A. Sali Improving functional annotation of non-synonomous SNPs with information theory Pac. Symp. Biocomput. 2005 397 408
-
(2005)
Pac. Symp. Biocomput.
, pp. 397-408
-
-
Karchin, R.1
Kelly, L.2
Sali, A.3
-
13
-
-
0035026704
-
Predicting deleterious amino acid substitutions
-
P.C. Ng, and S. Henikoff Predicting deleterious amino acid substitutions Genome Res. 11 2001 863 874
-
(2001)
Genome Res.
, vol.11
, pp. 863-874
-
-
Ng, P.C.1
Henikoff, S.2
-
14
-
-
0035937259
-
Predicting the functional consequences of non-synonymous single nucleotide polymorphisms: Structure-based assessment of amino acid variation
-
D. Chasman, and R.M. Adams Predicting the functional consequences of non-synonymous single nucleotide polymorphisms: structure-based assessment of amino acid variation J. Mol. Biol. 307 2001 683 706
-
(2001)
J. Mol. Biol.
, vol.307
, pp. 683-706
-
-
Chasman, D.1
Adams, R.M.2
-
15
-
-
0034191958
-
Towards a structural basis of human non-synonymous single nucleotide polymorphisms
-
S. Sunyaev, V. Ramensky, and P. Bork Towards a structural basis of human non-synonymous single nucleotide polymorphisms Trends Genet. 16 2000 198 200
-
(2000)
Trends Genet.
, vol.16
, pp. 198-200
-
-
Sunyaev, S.1
Ramensky, V.2
Bork, P.3
-
16
-
-
0035869223
-
Prediction of deleterious human alleles
-
S. Sunyaev, V. Ramensky, I. Koch, W. Lathe 3rd, A.S. Kondrashov, and P. Bork Prediction of deleterious human alleles Hum. Mol. Genet. 10 2001 591 597
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 591-597
-
-
Sunyaev, S.1
Ramensky, V.2
Koch, I.3
Lathe III, W.4
Kondrashov, A.S.5
Bork, P.6
-
17
-
-
0035065485
-
SNPs, protein structure, and disease
-
Z. Wang, and J. Moult SNPs, protein structure, and disease Hum. Mutat. 17 2001 263 270
-
(2001)
Hum. Mutat.
, vol.17
, pp. 263-270
-
-
Wang, Z.1
Moult, J.2
-
18
-
-
0036387236
-
Evaluation of structural and evolutionary contributions to deleterious mutation prediction
-
C.T. Saunders, and D. Baker Evaluation of structural and evolutionary contributions to deleterious mutation prediction J. Mol. Biol. 322 2002 891 901
-
(2002)
J. Mol. Biol.
, vol.322
, pp. 891-901
-
-
Saunders, C.T.1
Baker, D.2
-
19
-
-
0036321534
-
Assessing the relative importance of the biophysical properties of amino acid substitutions associated with human genetic disease
-
B.N. Terp, D.N. Cooper, I.T. Christensen, F.S. Jorgensen, P. Bross, N. Gregersen, and M. Krawczak Assessing the relative importance of the biophysical properties of amino acid substitutions associated with human genetic disease Hum. Mutat. 20 2002 98 109
-
(2002)
Hum. Mutat.
, vol.20
, pp. 98-109
-
-
Terp, B.N.1
Cooper, D.N.2
Christensen, I.T.3
Jorgensen, F.S.4
Bross, P.5
Gregersen, N.6
Krawczak, M.7
-
20
-
-
0037432532
-
Structural location of disease-associated single-nucleotide polymorphisms
-
N.O. Stitziel, Y.Y. Tseng, D. Pervouchine, D. Goddeau, S. Kasif, and J. Liang Structural location of disease-associated single-nucleotide polymorphisms J. Mol. Biol. 327 2003 1021 1030
-
(2003)
J. Mol. Biol.
, vol.327
, pp. 1021-1030
-
-
Stitziel, N.O.1
Tseng, Y.Y.2
Pervouchine, D.3
Goddeau, D.4
Kasif, S.5
Liang, J.6
-
21
-
-
0036300807
-
Characterization of disease-associated single amino acid polymorphisms in terms of sequence and structure properties
-
C. Ferrer-Costa, M. Orozco, and X. de la Cruz Characterization of disease-associated single amino acid polymorphisms in terms of sequence and structure properties J. Mol. Biol. 315 2002 771 786
-
(2002)
J. Mol. Biol.
, vol.315
, pp. 771-786
-
-
Ferrer-Costa, C.1
Orozco, M.2
De La Cruz, X.3
-
22
-
-
0344033683
-
A comparative study of machine-learning methods to predict the effects of single nucleotide polymorphisms on protein function
-
V.G. Krishnan, and D.R. Westhead A comparative study of machine-learning methods to predict the effects of single nucleotide polymorphisms on protein function Bioinformatics 19 2003 2199 2209
-
(2003)
Bioinformatics
, vol.19
, pp. 2199-2209
-
-
Krishnan, V.G.1
Westhead, D.R.2
-
23
-
-
0025830469
-
A method to identify protein sequences that fold into a known three-dimensional structure
-
J.U. Bowie, R. Luthy, and D. Eisenberg A method to identify protein sequences that fold into a known three-dimensional structure Science 253 1991 164 170
-
(1991)
Science
, vol.253
, pp. 164-170
-
-
Bowie, J.U.1
Luthy, R.2
Eisenberg, D.3
-
24
-
-
9144232912
-
UniProt: The universal protein knowledgebase
-
R. Apweiler, A. Bairoch, C.H. Wu, W.C. Barker, B. Boeckmann, S. Ferro, E. Gasteiger, H. Huang, R. Lopez, and M. Magrane UniProt: the universal protein knowledgebase Nucleic Acids Res. 32 2004 D115 D119
-
(2004)
Nucleic Acids Res.
, vol.32
-
-
Apweiler, R.1
Bairoch, A.2
Wu, C.H.3
Barker, W.C.4
Boeckmann, B.5
Ferro, S.6
Gasteiger, E.7
Huang, H.8
Lopez, R.9
Magrane, M.10
-
25
-
-
2342596530
-
The Swiss-Prot variant page and the ModSNP database: A resource for sequence and structure information on human protein variants
-
Y.L. Yip, H. Scheib, A.V. Diemand, A. Gattiker, L.M. Famiglietti, E. Gasteiger, and A. Bairoch The Swiss-Prot variant page and the ModSNP database: a resource for sequence and structure information on human protein variants Hum. Mutat. 23 2004 464 470
-
(2004)
Hum. Mutat.
, vol.23
, pp. 464-470
-
-
Yip, Y.L.1
Scheib, H.2
Diemand, A.V.3
Gattiker, A.4
Famiglietti, L.M.5
Gasteiger, E.6
Bairoch, A.7
-
26
-
-
0348129526
-
The ASTRAL compendium in 2004
-
J.M. Chandonia, G. Hon, N.S. Walker, L. Lo Conte, P. Koehl, M. Levitt, and S.E. Brenner The ASTRAL compendium in 2004 Nucleic Acids Res. 32 2004 D189 D192
-
(2004)
Nucleic Acids Res.
, vol.32
-
-
Chandonia, J.M.1
Hon, G.2
Walker, N.S.3
Lo Conte, L.4
Koehl, P.5
Levitt, M.6
Brenner, S.E.7
-
27
-
-
0027136282
-
Comparative protein modelling by satisfaction of spatial restraints
-
A. Sali, and T.L. Blundell Comparative protein modelling by satisfaction of spatial restraints J. Mol. Biol. 234 1993 779 815
-
(1993)
J. Mol. Biol.
, vol.234
, pp. 779-815
-
-
Sali, A.1
Blundell, T.L.2
-
28
-
-
0043122919
-
SIFT: Predicting amino acid changes that affect protein function
-
P.C. Ng, and S. Henikoff SIFT: Predicting amino acid changes that affect protein function Nucleic Acids Res. 31 2003 3812 3814
-
(2003)
Nucleic Acids Res.
, vol.31
, pp. 3812-3814
-
-
Ng, P.C.1
Henikoff, S.2
-
29
-
-
0024925404
-
Distance measures for signal processing and pattern recognition
-
M. Basseville Distance measures for signal processing and pattern recognition Signal Process. 18 1989 349 369
-
(1989)
Signal Process.
, vol.18
, pp. 349-369
-
-
Basseville, M.1
-
31
-
-
0035967880
-
FUGUE: Sequence-structure homology recognition using environment-specific substitution tables and structure-dependent gap penalties
-
J. Shi, T.L. Blundell, and K. Mizuguchi FUGUE: sequence-structure homology recognition using environment-specific substitution tables and structure-dependent gap penalties J. Mol. Biol. 310 2001 243 257
-
(2001)
J. Mol. Biol.
, vol.310
, pp. 243-257
-
-
Shi, J.1
Blundell, T.L.2
Mizuguchi, K.3
-
32
-
-
0031766401
-
HOMSTRAD: A database of protein structure alignments for homologous families
-
K. Mizuguchi, C.M. Deane, T.L. Blundell, and J.P. Overington HOMSTRAD: a database of protein structure alignments for homologous families Protein Sci. 7 1998 2469 2471
-
(1998)
Protein Sci.
, vol.7
, pp. 2469-2471
-
-
Mizuguchi, K.1
Deane, C.M.2
Blundell, T.L.3
Overington, J.P.4
-
35
-
-
19544392545
-
Prediction of the phenotypic effects of non-synonymous single nucleotide polymorphisms using structural and evolutionary information
-
L. Bao, and Y. Cui Prediction of the phenotypic effects of non-synonymous single nucleotide polymorphisms using structural and evolutionary information Bioinformatics 21 2005 2185 2190
-
(2005)
Bioinformatics
, vol.21
, pp. 2185-2190
-
-
Bao, L.1
Cui, Y.2
|