-
1
-
-
78651310799
-
Database resources of the National Center for Biotechnology Information
-
Eric WS, Tanya B, Dennis AB, Evan B, Stephen HB, et al. (2011) Database resources of the National Center for Biotechnology Information. Nucleic Acids Res 39: D38-D51.
-
(2011)
Nucleic Acids Res
, vol.39
-
-
Eric, W.S.1
Tanya, B.2
Dennis, A.B.3
Evan, B.4
Stephen, H.B.5
-
2
-
-
17044437374
-
Gene SNPs and mutations in clinical genetic testing: haplotype-based testing and analysis
-
Lee JE, Choi JH, Lee JH, Lee MG, (2005) Gene SNPs and mutations in clinical genetic testing: haplotype-based testing and analysis. Mutat Res 573: 195-204.
-
(2005)
Mutat Res
, vol.573
, pp. 195-204
-
-
Lee, J.E.1
Choi, J.H.2
Lee, J.H.3
Lee, M.G.4
-
3
-
-
0004046696
-
The neutral theory of molecular evolution
-
Cambridge, Cambridge University Press
-
Kimura M, (1983) The neutral theory of molecular evolution. Cambridge, Cambridge University Press.
-
(1983)
-
-
Kimura, M.1
-
4
-
-
66349136835
-
UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity - application to four genes: FBN1, FBN2, TGFBR1, and TGFBR2
-
Frederic MY, Lalande M, Boileau C, Hamroun D, Claustres M, et al. (2009) UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity- application to four genes: FBN1, FBN2, TGFBR1, and TGFBR2. Hum Mutat 30: 952-959.
-
(2009)
Hum Mutat
, vol.30
, pp. 952-959
-
-
Frederic, M.Y.1
Lalande, M.2
Boileau, C.3
Hamroun, D.4
Claustres, M.5
-
5
-
-
68149165614
-
SIFT: Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
-
Kumar P, Henikoff S, Ng PC, (2009) SIFT: Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 4: 1073-81.
-
(2009)
Nat Protoc
, vol.4
, pp. 1073-1081
-
-
Kumar, P.1
Henikoff, S.2
Ng, P.C.3
-
6
-
-
34547100092
-
SNAP: predict effect of nonsynonymous polymorphisms on function
-
Bromberg Y, Rost B, (2007) SNAP: predict effect of nonsynonymous polymorphisms on function. Nucleic Acids Res 35: 3823-35.
-
(2007)
Nucleic Acids Res
, vol.35
, pp. 3823-3835
-
-
Bromberg, Y.1
Rost, B.2
-
7
-
-
33846067524
-
PANTHER version 6: protein sequence and function evolution data with expanded representation of biological pathways
-
Mi H, Guo N, Kejariwal A, Thomas PD, (2007) PANTHER version 6: protein sequence and function evolution data with expanded representation of biological pathways. Nucleic Acids Res 35: 247-52.
-
(2007)
Nucleic Acids Res
, vol.35
, pp. 247-252
-
-
Mi, H.1
Guo, N.2
Kejariwal, A.3
Thomas, P.D.4
-
8
-
-
33747824819
-
PupaSuite: finding functional single nucleotide polymorphisms for large-scale genotyping purposes
-
Conde L, Vaquerizas JM, Dopazo H, Arbiza L, Reumers J, et al. (2006) PupaSuite: finding functional single nucleotide polymorphisms for large-scale genotyping purposes. Nucleic Acids Res 34: 621-25.
-
(2006)
Nucleic Acids Res
, vol.34
, pp. 621-625
-
-
Conde, L.1
Vaquerizas, J.M.2
Dopazo, H.3
Arbiza, L.4
Reumers, J.5
-
9
-
-
20844461337
-
LS-SNP: large-scale annotation of coding non-synonymous SNPs based on multiple information sources
-
Karchin R, Diekhans M, Kelly L, Thomas DJ, Pieper U, et al. (2005) LS-SNP: large-scale annotation of coding non-synonymous SNPs based on multiple information sources. Bioinformatics 21: 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
-
10
-
-
33748672451
-
SNP effect v2.0: a new step in investigating the molecular phenotypic effects of human non-synonymous SNPs
-
Reumers J, Maurer-Stroh S, Schymkowitz J, Rousseau F, (2006) SNP effect v2.0: a new step in investigating the molecular phenotypic effects of human non-synonymous SNPs. Bioinformatics 22: 2183-85.
-
(2006)
Bioinformatics
, vol.22
, pp. 2183-2185
-
-
Reumers, J.1
Maurer-Stroh, S.2
Schymkowitz, J.3
Rousseau, F.4
-
11
-
-
33747871385
-
SNP Function Portal: a web database for exploring the function implication of SNP alleles
-
Wang P, Dai M, Xuan W, McEachin RC, Jackson AU, et al. (2006) SNP Function Portal: a web database for exploring the function implication of SNP alleles. Bioinformatics 22: E523-29.
-
(2006)
Bioinformatics
, vol.22
-
-
Wang, P.1
Dai, M.2
Xuan, W.3
McEachin, R.C.4
Jackson, A.U.5
-
12
-
-
33747832183
-
FASTSNP: an always up-to-date and extendable service for SNP function analysis and prioritization
-
Yuan HY, Chiou JJ, Tseng WH, Liu CH, Liu CK, et al. (2006) FASTSNP: an always up-to-date and extendable service for SNP function analysis and prioritization. Nucleic Acids Res 34: 635-41.
-
(2006)
Nucleic Acids Res
, vol.34
, pp. 635-641
-
-
Yuan, H.Y.1
Chiou, J.J.2
Tseng, W.H.3
Liu, C.H.4
Liu, C.K.5
-
13
-
-
33645764714
-
SNPs3D: candidate gene and SNP selection for association studies
-
Yue P, Melamud E, Moult J, (2006) SNPs3D: candidate gene and SNP selection for association studies. BMC Bioinformatics 7: 166.
-
(2006)
BMC Bioinformatics
, vol.7
, pp. 166
-
-
Yue, P.1
Melamud, E.2
Moult, J.3
-
14
-
-
0036713510
-
Human non-synonymous SNPs: server and survey
-
Ramensky V, Bork P, Sunyaev S, (2002) Human non-synonymous SNPs: server and survey. Nucleic Acids Res 30: 3894-3900.
-
(2002)
Nucleic Acids Res
, vol.30
, pp. 3894-3900
-
-
Ramensky, V.1
Bork, P.2
Sunyaev, S.3
-
15
-
-
1542405868
-
An Evolutionary Perspective on Single-Nucleotide Polymorphism Screening in Molecular Cancer Epidemiology
-
Zhu Y, Spitz MR, Amos CI, Lin J, Schabath MB, et al. (2004) An Evolutionary Perspective on Single-Nucleotide Polymorphism Screening in Molecular Cancer Epidemiology. Cancer Res 64: 2251-2257.
-
(2004)
Cancer Res
, vol.64
, pp. 2251-2257
-
-
Zhu, Y.1
Spitz, M.R.2
Amos, C.I.3
Lin, J.4
Schabath, M.B.5
-
16
-
-
33646488359
-
Selective pressures at a codon-level predict deleterious mutations in human disease genes
-
Arbiza L, Dopazo J, Dopazo H, (2006) Selective pressures at a codon-level predict deleterious mutations in human disease genes. J Mol Bio 358: 1390-1404.
-
(2006)
J Mol Bio
, vol.358
, pp. 1390-1404
-
-
Arbiza, L.1
Dopazo, J.2
Dopazo, H.3
-
17
-
-
80052730774
-
Selective Constraints and Human Disease Genes: Evolutionary and Bioinformatics Approaches
-
John Wiley & Sons, Ltd, Chichester, DOI:10.1002/9780470015902.a002076
-
Hernan D, (2008) Selective Constraints and Human Disease Genes: Evolutionary and Bioinformatics Approaches. Encyclopedia of Life Sciences (ELS) John Wiley & Sons, Ltd Chichester DOI:10.1002/9780470015902.a002076.
-
(2008)
Encyclopedia of Life Sciences (ELS)
-
-
Hernan, D.1
-
18
-
-
35348918830
-
Genome bioinformatic analysis of nonsynonymous SNPs
-
Burke DF, Worth CL, Priego E, Cheng T, Smink LJ, et al. (2007) Genome bioinformatic analysis of nonsynonymous SNPs. BMC Bioinformatics 8: 301-315.
-
(2007)
BMC Bioinformatics
, vol.8
, pp. 301-315
-
-
Burke, D.F.1
Worth, C.L.2
Priego, E.3
Cheng, T.4
Smink, L.J.5
-
19
-
-
0036306730
-
Hematologically important mutations: glucose-6-phosphate dehydrogenase
-
Beutler E, Vulliamy TJ, (2002) Hematologically important mutations: glucose-6-phosphate dehydrogenase. Blood Cells Mol Dis 28: 93-103.
-
(2002)
Blood Cells Mol Dis
, vol.28
, pp. 93-103
-
-
Beutler, E.1
Vulliamy, T.J.2
-
20
-
-
0027940492
-
G6PD deficiency
-
Beutler E, (1996) G6PD deficiency. Blood 84: 3613-3621.
-
(1996)
Blood
, vol.84
, pp. 3613-3621
-
-
Beutler, E.1
-
21
-
-
0036851376
-
In Silico Model-Driven Assessment of the Effects of Single Nucleotide Polymorphisms (SNPs) on Human Red Blood Cell Metabolism
-
Jamshidi N, Wiback SJ, Palsson BO, (2002) In Silico Model-Driven Assessment of the Effects of Single Nucleotide Polymorphisms (SNPs) on Human Red Blood Cell Metabolism. Genome Res 12: 1687-1692.
-
(2002)
Genome Res
, vol.12
, pp. 1687-1692
-
-
Jamshidi, N.1
Wiback, S.J.2
Palsson, B.O.3
-
22
-
-
0015937133
-
Comparative kinetic study of human pyruvate kinases isolated from adult and fetal livers and from hepatoma
-
Balinsky D, Cayanis E, Bersohn I, (1973) Comparative kinetic study of human pyruvate kinases isolated from adult and fetal livers and from hepatoma. Biochemistry 12: 863-870.
-
(1973)
Biochemistry
, vol.12
, pp. 863-870
-
-
Balinsky, D.1
Cayanis, E.2
Bersohn, I.3
-
23
-
-
0028297819
-
The glucose-6-phosphate dehydrogenase (G6PD) deficient variant G6PD Union (454 Arg>Cys) has a worldwide distribution possibly due to recurrent mutation
-
Rovira A, Vulliamy TJ, Pujades A, Luzzatto L, Corrons JL, (1994) The glucose-6-phosphate dehydrogenase (G6PD) deficient variant G6PD Union (454 Arg>Cys) has a worldwide distribution possibly due to recurrent mutation. Hum Mol Genet 3: 833-835.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 833-835
-
-
Rovira, A.1
Vulliamy, T.J.2
Pujades, A.3
Luzzatto, L.4
Corrons, J.L.5
-
24
-
-
0032250556
-
Red blood cell enzymes and their Clinical application
-
Fujii H, Miwa S, (1998) Red blood cell enzymes and their Clinical application Clin Chem 33: 1-54.
-
(1998)
Clin Chem
, vol.33
, pp. 1-54
-
-
Fujii, H.1
Miwa, S.2
-
26
-
-
0023813414
-
The human liver-type pyruvate kinase (PKL) gene is on chromosome 1 at band q21
-
Satoh H, Tani K, Yoshida MC, Sasaki M, Miwa S, et al. (1988) The human liver-type pyruvate kinase (PKL) gene is on chromosome 1 at band q21. Cytogenet Cell Genet 47: 132-133.
-
(1988)
Cytogenet Cell Genet
, vol.47
, pp. 132-133
-
-
Satoh, H.1
Tani, K.2
Yoshida, M.C.3
Sasaki, M.4
Miwa, S.5
-
27
-
-
0024166362
-
Human M2-type pyruvate kinase: cDNA cloning, chromosomal assignment and expression in hepatoma
-
Tani K, Yoshida MC, Satoh H, Mitamura K, Noguchi T, et al. (1988a) Human M2-type pyruvate kinase: cDNA cloning, chromosomal assignment and expression in hepatoma. Gene 20: 509-516.
-
(1988)
Gene
, vol.20
, pp. 509-516
-
-
Tani, K.1
Yoshida, M.C.2
Satoh, H.3
Mitamura, K.4
Noguchi, T.5
-
28
-
-
0028880761
-
A new glucose-6-phosphate dehydrogenase variant, G6PD Orissa (44 Ala->Gly), is the major polymorphic variant in tribal populations in India
-
Kaeda JS, Chhotray GP, Ranjit MR, Bautista JM, Reddy PH, et al. (1995) A new glucose-6-phosphate dehydrogenase variant, G6PD Orissa (44 Ala->Gly), is the major polymorphic variant in tribal populations in India. Am J Hum Genet 57: 1335-1341.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 1335-1341
-
-
Kaeda, J.S.1
Chhotray, G.P.2
Ranjit, M.R.3
Bautista, J.M.4
Reddy, P.H.5
-
29
-
-
0027537149
-
A "G6PD Aures: a new mutation (48 Ile->Thr) causing mild G6PD deficiency is associated with favism."
-
Nafa K, Reghis A, Osmani N, Baghli L, Benabadji M, et al. (1993) A" G6PD Aures: a new mutation (48 Ile->Thr) causing mild G6PD deficiency is associated with favism." Hum Mol Genet 2: 81-82.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 81-82
-
-
Nafa, K.1
Reghis, A.2
Osmani, N.3
Baghli, L.4
Benabadji, M.5
-
30
-
-
0030610946
-
G-to-T transition at cDNA nt 110 (K37Q) in the PKLR (pyruvate kinase) gene is the molecular basis of a case of hereditary increase of red blood cell ATP
-
Beutler E, Westwood B, Van ZR, Roos D, (1997) G-to-T transition at cDNA nt 110 (K37Q) in the PKLR (pyruvate kinase) gene is the molecular basis of a case of hereditary increase of red blood cell ATP. Hum Mutat 9: 282-285.
-
(1997)
Hum Mutat
, vol.9
, pp. 282-285
-
-
Beutler, E.1
Westwood, B.2
Van, Z.R.3
Roos, D.4
-
31
-
-
0032441137
-
A new sickle cell disease phenotype associating Hb S trait, severe pyruvate kinase deficiency (PK Conakry), and an alpha-2 globin gene variant (Hb Conakry)
-
Cohen-Solal M, Prehu C, Wajcman H, Poyart C, Bardakdjian-Michau, et al. (1998) A new sickle cell disease phenotype associating Hb S trait, severe pyruvate kinase deficiency (PK Conakry), and an alpha-2 globin gene variant (Hb Conakry). J Haematol 103: 950-956.
-
(1998)
J Haematol
, vol.103
, pp. 950-956
-
-
Cohen-Solal, M.1
Prehu, C.2
Wajcman, H.3
Poyart, C.4
Bardakdjian-Michau5
-
32
-
-
0025893142
-
Point mutations in the L-type pyruvate kinase gene of two children with hemolytic anemia caused by pyruvate kinase deficiency
-
Neubauer B, Lakomek M, Winkler H, Parke M, Hofferbert S, et al. (1991) Point mutations in the L-type pyruvate kinase gene of two children with hemolytic anemia caused by pyruvate kinase deficiency. Blood 77: 1871-1875.
-
(1991)
Blood
, vol.77
, pp. 1871-1875
-
-
Neubauer, B.1
Lakomek, M.2
Winkler, H.3
Parke, M.4
Hofferbert, S.5
-
33
-
-
0026517708
-
Identical point mutations of the R-type pyruvate kinase (PK) cDNA found in unrelated PK variants associated with hereditary hemolytic anemia
-
Kanno H, Fujii H, Hirono A, Omine M, Miwa S, (1992) Identical point mutations of the R-type pyruvate kinase (PK) cDNA found in unrelated PK variants associated with hereditary hemolytic anemia. Blood 79: 1347-1350.
-
(1992)
Blood
, vol.79
, pp. 1347-1350
-
-
Kanno, H.1
Fujii, H.2
Hirono, A.3
Omine, M.4
Miwa, S.5
-
34
-
-
18544366712
-
Structure and function of human erythrocyte pyruvate kinase. Molecular basis of nonspherocytic hemolytic anemia
-
Valentini G, Chiarelli LR, Fortin R, Dolzan M, Galizzi A, et al. (2002) Structure and function of human erythrocyte pyruvate kinase. Molecular basis of nonspherocytic hemolytic anemia. J Biol Chem 277: 23807-23814.
-
(2002)
J Biol Chem
, vol.277
, pp. 23807-23814
-
-
Valentini, G.1
Chiarelli, L.R.2
Fortin, R.3
Dolzan, M.4
Galizzi, A.5
-
35
-
-
0028210009
-
Molecular abnormality of erythrocyte pyruvate kinase deficiency in the Amish
-
Kanno H, Ballas SK, Miwa S, Fujii H, Bowman HS, (1994) Molecular abnormality of erythrocyte pyruvate kinase deficiency in the Amish. Blood 83: 2311-2316.
-
(1994)
Blood
, vol.83
, pp. 2311-2316
-
-
Kanno, H.1
Ballas, S.K.2
Miwa, S.3
Fujii, H.4
Bowman, H.S.5
-
36
-
-
0027221646
-
Analysis of pyruvate kinase deficiency mutations that produce nonspherocytic hemolytic anemia
-
Baronciani L, Beutler E, (1993) Analysis of pyruvate kinase deficiency mutations that produce nonspherocytic hemolytic anemia. Proc Natl Acad Sci USA 90: 4324-4327.
-
(1993)
Proc Natl Acad Sci USA
, vol.90
, pp. 4324-4327
-
-
Baronciani, L.1
Beutler, E.2
-
37
-
-
6844258875
-
Novel mutations and structural implications in R-type pyruvate kinase-deficient patients from Southern Italy
-
Pastore L, della Morte R, Frisso G, Alfinito F, Vitale D, et al. (1998) Novel mutations and structural implications in R-type pyruvate kinase-deficient patients from Southern Italy. Hum Mutat 11: 127-134.
-
(1998)
Hum Mutat
, vol.11
, pp. 127-134
-
-
Pastore, L.1
della Morte, R.2
Frisso, G.3
Alfinito, F.4
Vitale, D.5
-
38
-
-
7444262496
-
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC) Genome Res
-
Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, et al. (2004) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC) Genome Res 14: 2121-2127.
-
(2004)
, vol.14
, pp. 2121-2127
-
-
Gerhard, D.S.1
Wagner, L.2
Feingold, E.A.3
Shenmen, C.M.4
Grouse, L.H.5
-
39
-
-
39249084312
-
Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools
-
Zhu Y, Hoffman A, Wu X, Zhang H, Zhang Y, et al. (2008) Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools. Mutat Res 639 (1-2): 80-88.
-
(2008)
Mutat Res
, vol.639
, Issue.1-2
, pp. 80-88
-
-
Zhu, Y.1
Hoffman, A.2
Wu, X.3
Zhang, H.4
Zhang, Y.5
-
40
-
-
2642527702
-
Many amino acid substitution variants identified in DNA repair genes during human population screenings are predicted to impact protein function
-
Xi T, Jones IM, Mohrenweiser HW, (2004) Many amino acid substitution variants identified in DNA repair genes during human population screenings are predicted to impact protein function. Genomics 83: 970-979.
-
(2004)
Genomics
, vol.83
, pp. 970-979
-
-
Xi, T.1
Jones, I.M.2
Mohrenweiser, H.W.3
-
41
-
-
0016197604
-
Amino acid difference formula to help explain protein evolution
-
Grantham R, (1974) Amino acid difference formula to help explain protein evolution. Science 185: 862-864.
-
(1974)
Science
, vol.185
, pp. 862-864
-
-
Grantham, R.1
-
42
-
-
0035937259
-
Predicting the functional consequences of non-synonymous single nucleotide polymorphisms: Structure-based assessment of amino acid variation
-
Chasman D, Adams RM, (2001) Predicting the functional consequences of non-synonymous single nucleotide polymorphisms: Structure-based assessment of amino acid variation. J Mol Biol 307: 683-706.
-
(2001)
J Mol Biol
, vol.307
, pp. 683-706
-
-
Chasman, D.1
Adams, R.M.2
-
43
-
-
0035869223
-
Prediction of deleterious human alleles
-
Sunyaev S, Ramensky V, Koch I, Lathe W, Kondrashov A, et al. (2001) Prediction of deleterious human alleles. Hum Mol Genet 10: 591-597.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 591-597
-
-
Sunyaev, S.1
Ramensky, V.2
Koch, I.3
Lathe, W.4
Kondrashov, A.5
-
44
-
-
0035065485
-
SNPs, protein structure, and disease
-
Wang Z, Moult J, (2001) SNPs, protein structure, and disease. Hum Mutat 17: 263-270.
-
(2001)
Hum Mutat
, vol.17
, pp. 263-270
-
-
Wang, Z.1
Moult, J.2
-
45
-
-
72449187659
-
Computational Analysis of Amino Acid Mutation: A Proteome Wide Perspective
-
Chen J, Shen B, (2009) Computational Analysis of Amino Acid Mutation: A Proteome Wide Perspective. Current Proteomics 6: 228-234.
-
(2009)
Current Proteomics
, vol.6
, pp. 228-234
-
-
Chen, J.1
Shen, B.2
-
46
-
-
23144461249
-
I-Mutant 2.0: Predicting stability changes upon mutation from the protein sequence or structure
-
Capriotti E, Fariselli P, Casadio R, (2005) I-Mutant 2.0: Predicting stability changes upon mutation from the protein sequence or structure. Nucleic Acids Res 33: 306-310.
-
(2005)
Nucleic Acids Res
, vol.33
, pp. 306-310
-
-
Capriotti, E.1
Fariselli, P.2
Casadio, R.3
-
47
-
-
75549083389
-
UTRdb and UTRsite (RELEASE 2010) a collection of sequences and regulatory motifs of the untranslated regions of eukaryotic mRNAs
-
Grillo G, Turi A, Licciulli F, Mignone F, Liuni S, et al. (2010) UTRdb and UTRsite (RELEASE 2010) a collection of sequences and regulatory motifs of the untranslated regions of eukaryotic mRNAs. Nucleic Acids Res 38: D75-80.
-
(2010)
Nucleic Acids Res
, vol.38
-
-
Grillo, G.1
Turi, A.2
Licciulli, F.3
Mignone, F.4
Liuni, S.5
-
48
-
-
84879796671
-
SRide: a server for identifying stabilizing residues in proteins
-
Magyar C, Gromiha MM, Pujadas G, Tusnády GE, Simon I, (2005) SRide: a server for identifying stabilizing residues in proteins. Nucleic Acids Res 1: 33.
-
(2005)
Nucleic Acids Res
, vol.1
, pp. 33
-
-
Magyar, C.1
Gromiha, M.M.2
Pujadas, G.3
Tusnády, G.E.4
Simon, I.5
-
49
-
-
33747155643
-
Identification of genetic variation and putative regulatory regions in bovine CARD15
-
Taylor KH, Taylor JF, White SN, Womack JE, (2006) Identification of genetic variation and putative regulatory regions in bovine CARD15. Mammalian Genome 17: 892-901.
-
(2006)
Mammalian Genome
, vol.17
, pp. 892-901
-
-
Taylor, K.H.1
Taylor, J.F.2
White, S.N.3
Womack, J.E.4
-
50
-
-
0032531129
-
The Human Musashi Homolog 1 (MSI1) Gene Encoding the Homologue of Musashi/Nrp-1, a Neural RNA-Binding Protein Putatively Expressed in CNS Stem Cells and Neural Progenitor Cells
-
Good P, Yoda A, Sakakibara S, Yamamoto A, Imai T, et al. (1998) The Human Musashi Homolog 1 (MSI1) Gene Encoding the Homologue of Musashi/Nrp-1, a Neural RNA-Binding Protein Putatively Expressed in CNS Stem Cells and Neural Progenitor Cells. Genomics 52: 382-384.
-
(1998)
Genomics
, vol.52
, pp. 382-384
-
-
Good, P.1
Yoda, A.2
Sakakibara, S.3
Yamamoto, A.4
Imai, T.5
-
51
-
-
0036537894
-
Musashi: A translational regulator of cell fate
-
Okano H, Imai T, Okabe M, (2002) Musashi: A translational regulator of cell fate. J Cell Sci 115: 1355-1359.
-
(2002)
J Cell Sci
, vol.115
, pp. 1355-1359
-
-
Okano, H.1
Imai, T.2
Okabe, M.3
-
52
-
-
0030838872
-
The 5′ terminal oligopyrimidine tract confers translational control on TOP mRNAs in a cell type- and sequence context-dependent manner
-
Avni D, Biberman Y, Meyuhas O, (1997) The 5′ terminal oligopyrimidine tract confers translational control on TOP mRNAs in a cell type- and sequence context-dependent manner. Nucleic Acids Res 25 (5): 995-100.
-
(1997)
Nucleic Acids Res
, vol.25
, Issue.5
, pp. 995-100
-
-
Avni, D.1
Biberman, Y.2
Meyuhas, O.3
-
53
-
-
0028246102
-
RNA Binding by Sxl Proteins In Vitro and In Vivo
-
Samuels ME, Bopp D, Colvin RA, Roscigno RF, Garcia-Blanco MA, et al. (1994) RNA Binding by Sxl Proteins In Vitro and In Vivo. Mol Cell Biol 14: 4975-4990.
-
(1994)
Mol Cell Biol
, vol.14
, pp. 4975-4990
-
-
Samuels, M.E.1
Bopp, D.2
Colvin, R.A.3
Roscigno, R.F.4
Garcia-Blanco, M.A.5
-
54
-
-
0029805895
-
A novel RNA structural motiff in the selenocysteine insertion element of eukaryotic selenoprotein mRNAs, RNA
-
Walczak R, Westhof E, Carbon P, Krol A, (1996) A novel RNA structural motiff in the selenocysteine insertion element of eukaryotic selenoprotein mRNAs, RNA 2: 367-379.
-
(1996)
, vol.2
, pp. 367-379
-
-
Walczak, R.1
Westhof, E.2
Carbon, P.3
Krol, A.4
-
55
-
-
4043062382
-
UNR, a new partner of poly(A)-binding protein, Plays a key role in translationally coupled mRNA turnover mediated by the c-fos major coding-region determinant
-
Chang TC, Yamashita A, Yamashita Y, Zhu W, Durdan S, et al. (2004) UNR, a new partner of poly(A)-binding protein, Plays a key role in translationally coupled mRNA turnover mediated by the c-fos major coding-region determinant. Genes Dev 18: 2010-2023.
-
(2004)
Genes Dev
, vol.18
, pp. 2010-2023
-
-
Chang, T.C.1
Yamashita, A.2
Yamashita, Y.3
Zhu, W.4
Durdan, S.5
-
56
-
-
63749120567
-
The SAAPdb web resource: A large-scale structural analysis of mutant proteins
-
Hurst J, McMillan L, Porter C, Allen J, Fakorede A, et al. (2009) The SAAPdb web resource: A large-scale structural analysis of mutant proteins. Hum Mutat 30: 616-624.
-
(2009)
Hum Mutat
, vol.30
, pp. 616-624
-
-
Hurst, J.1
McMillan, L.2
Porter, C.3
Allen, J.4
Fakorede, A.5
-
57
-
-
0003845223
-
The PyMOL Molecular Graphics System, Version 0.99
-
DeLano Scientific, San Carlos, CA
-
DeLano WL, (2002) The PyMOL Molecular Graphics System, Version 0.99. DeLano Scientific, San Carlos, CA.
-
(2002)
-
-
DeLano, W.L.1
-
58
-
-
0032991552
-
Characterization of single nucleotide polymorphisms in coding regions of human genes
-
Cargill M, Altshuler D, Ireland J, Sklar P, Ardlie K, et al. (1999) Characterization of single nucleotide polymorphisms in coding regions of human genes. Nat Genet 22: 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
-
59
-
-
0033910271
-
Melanocortin-1 receptor polymorphisms and risk of melanoma: Is the association explained solely by pigmentation phenotype?
-
Palmer JS, Duffy DL, Box NF, Aitken JF, O'Gorman LE, (2000) Melanocortin-1 receptor polymorphisms and risk of melanoma: Is the association explained solely by pigmentation phenotype? Am J Hum Genet 66: 176-186.
-
(2000)
Am J Hum Genet
, vol.66
, pp. 176-186
-
-
Palmer, J.S.1
Duffy, D.L.2
Box, N.F.3
Aitken, J.F.4
O'Gorman, L.E.5
-
60
-
-
2942604293
-
Identifying functional genetic variants in DNA repair pathway using protein conservation analysis
-
Savas S, Kim DY, Ahmad MF, Shariff, Ozcelik H, (2004) Identifying functional genetic variants in DNA repair pathway using protein conservation analysis. Cancer Epidemiol Biomarkers 13: 801-807.
-
(2004)
Cancer Epidemiol Biomarkers
, vol.13
, pp. 801-807
-
-
Savas, S.1
Kim, D.Y.2
Ahmad, M.F.3
Shariff4
Ozcelik, H.5
-
61
-
-
0036119504
-
Accounting for human polymorphisms predicted to affect protein function
-
Ng PC, Henikoff S, (2002) Accounting for human polymorphisms predicted to affect protein function. Genome Res 12: 436-446.
-
(2002)
Genome Res
, vol.12
, pp. 436-446
-
-
Ng, P.C.1
Henikoff, S.2
-
62
-
-
3142695439
-
Germline Ecadherin mutations in hereditary diffuse gastric cancer: assessment of 42 new families and review of genetic screening criteria
-
Brooks-Wilson AR, Kaurah P, Suriano G, (2004) Germline Ecadherin mutations in hereditary diffuse gastric cancer: assessment of 42 new families and review of genetic screening criteria. J Med Genet 41: 508-517.
-
(2004)
J Med Genet
, vol.41
, pp. 508-517
-
-
Brooks-Wilson, A.R.1
Kaurah, P.2
Suriano, G.3
-
63
-
-
3343020872
-
Genetic polymorphisms in human proton-dependent dipeptide transporter PEPT1: implications for the functional role of Pro586
-
Zhang EY, Fu D-J, Pak YA, Stewart T, Mukhopadhyay N, et al. (2004) Genetic polymorphisms in human proton-dependent dipeptide transporter PEPT1: implications for the functional role of Pro586. J Pharmacol Exp Ther 310: 437-445.
-
(2004)
J Pharmacol Exp Ther
, vol.310
, pp. 437-445
-
-
Zhang, E.Y.1
Fu, D.-J.2
Pak, Y.A.3
Stewart, T.4
Mukhopadhyay, N.5
-
64
-
-
2942545810
-
Assessment of polymorphic variants in the melanocortin-1 receptor gene with cutaneous pigmentation using an evolutionary approach
-
Kanetsky PA, Ge F, Najarian D, Swoyer J, Panossian S, et al. (2004) Assessment of polymorphic variants in the melanocortin-1 receptor gene with cutaneous pigmentation using an evolutionary approach. Cancer Epidemiol Biomarkers Prev 13: 808-81.
-
(2004)
Cancer Epidemiol Biomarkers Prev
, vol.13
, pp. 808-881
-
-
Kanetsky, P.A.1
Ge, F.2
Najarian, D.3
Swoyer, J.4
Panossian, S.5
-
65
-
-
50249111496
-
A novel computational and structural analysis of nsSNPs in CFTR gene
-
Doss CGP, Rajasekaran R, Sudandiradoss C, Ramanathan K, Purohit R, Sethumadhavan R, (2008) A novel computational and structural analysis of nsSNPs in CFTR gene. Genomic Med 2: 23-32.
-
(2008)
Genomic Med
, vol.2
, pp. 23-32
-
-
Doss, C.G.P.1
Rajasekaran, R.2
Sudandiradoss, C.3
Ramanathan, K.4
Purohit, R.5
Sethumadhavan, R.6
-
66
-
-
67349186316
-
Impact of single nucleotide polymorphisms in HBB gene causing haemoglobinopathies: in silico analysis
-
Doss CGP, Rao S, (2009) Impact of single nucleotide polymorphisms in HBB gene causing haemoglobinopathies: in silico analysis. New Biotechnology 25 (4): 214-9.
-
(2009)
New Biotechnology
, vol.25
, Issue.4
, pp. 214-219
-
-
Doss, C.G.P.1
Rao, S.2
-
67
-
-
80052758795
-
Structural and Functional Analysis of Deleterious Nonsynonymous Single Nucleotide Polymorphisms in PAH Associated with Phenylketonuria
-
Doss CGP, Sethumadhavan R, (2009) Structural and Functional Analysis of Deleterious Nonsynonymous Single Nucleotide Polymorphisms in PAH Associated with Phenylketonuria. Adv Sci Lett 2: 364-371.
-
(2009)
Adv Sci Lett
, vol.2
, pp. 364-371
-
-
Doss, C.G.P.1
Sethumadhavan, R.2
-
68
-
-
52349097885
-
Applications of computational algorithm tools to identify functional SNPs
-
Doss CGP, Sudandiradoss C, Rajasekaran R, Choudhury P, Sinha P, et al. (2008) Applications of computational algorithm tools to identify functional SNPs. Funct Integr Genomics 8: 309-316.
-
(2008)
Funct Integr Genomics
, vol.8
, pp. 309-316
-
-
Doss, C.G.P.1
Sudandiradoss, C.2
Rajasekaran, R.3
Choudhury, P.4
Sinha, P.5
-
69
-
-
65649109273
-
Investigation on the role of nsSNPs in HNPCC genes - A bioinformatics approach
-
Doss CGP, Sethumadhavan R, (2009) Investigation on the role of nsSNPs in HNPCC genes - A bioinformatics approach. J Biomed Sci 16: 42.
-
(2009)
J Biomed Sci
, vol.16
, pp. 42
-
-
Doss, C.G.P.1
Sethumadhavan, R.2
-
70
-
-
79960029961
-
Improving the prediction of disease-related variants using protein three-dimensional structure
-
Capriotti E, Altman RB, (2011) Improving the prediction of disease-related variants using protein three-dimensional structure. BMC Bioinformatics 12 (Suppl 4): S3.
-
(2011)
BMC Bioinformatics
, vol.12
, Issue.SUPPL. 4
-
-
Capriotti, E.1
Altman, R.B.2
-
71
-
-
0344985724
-
Diverse point mutations in the human glucose 6-phosphate dehydrogenase gene cause enzyme deficiency and mild or severe hemolytic anemia
-
Vulliamy TJ, D'Urso M, Battistuzzi G, Estrada M, Foulkes NS, et al. (1988) Diverse point mutations in the human glucose 6-phosphate dehydrogenase gene cause enzyme deficiency and mild or severe hemolytic anemia. Proc Natl Acad Sci USA. 85: 5171-5175.
-
(1988)
Proc Natl Acad Sci USA
, vol.85
, pp. 5171-5175
-
-
Vulliamy, T.J.1
D'Urso, M.2
Battistuzzi, G.3
Estrada, M.4
Foulkes, N.S.5
-
72
-
-
79953756857
-
Genetic association analysis highlights new loci that modulate hematological trait variation in Caucasians and African Americans
-
Lo KS, Wilson JG, Lange LA, Folsom AR, Galarneau G, et al. (2011) Genetic association analysis highlights new loci that modulate hematological trait variation in Caucasians and African Americans. Hum Genet 129 (3): 307-17.
-
(2011)
Hum Genet
, vol.129
, Issue.3
, pp. 307-317
-
-
Lo, K.S.1
Wilson, J.G.2
Lange, L.A.3
Folsom, A.R.4
Galarneau, G.5
-
73
-
-
33646475098
-
Divergence of Interdomain Geometry in Two-Domain Proteins
-
Han JH, Kerrison N, Chothia C, Teichmann SA, (2006) Divergence of Interdomain Geometry in Two-Domain Proteins. Structure 14 (5): 935-945.
-
(2006)
Structure
, vol.14
, Issue.5
, pp. 935-945
-
-
Han, J.H.1
Kerrison, N.2
Chothia, C.3
Teichmann, S.A.4
-
74
-
-
0036817538
-
Bioinformatics and molecular modeling in chemical enzymology: Active sites of hydrolases
-
Varfolomeev SD, Uporov IV, Fedorov EV, (2002) Bioinformatics and molecular modeling in chemical enzymology: Active sites of hydrolases. Biochemistry (Mosc) 67 (10): 1099-1108.
-
(2002)
Biochemistry (Mosc)
, vol.67
, Issue.10
, pp. 1099-1108
-
-
Varfolomeev, S.D.1
Uporov, I.V.2
Fedorov, E.V.3
-
76
-
-
0029916911
-
The SWISS-PROT Protein Sequence Data Bank and Its New Supplement TREMBL
-
Amos B, Rolf A, (1996) The SWISS-PROT Protein Sequence Data Bank and Its New Supplement TREMBL. Nucleic Acids Res 24 (1): 21-25.
-
(1996)
Nucleic Acids Res
, vol.24
, Issue.1
, pp. 21-25
-
-
Amos, B.1
Rolf, A.2
-
77
-
-
0023042012
-
Information content of binding sites on nucleotide sequences
-
Schneider TD, Stormo GD, Gold L, Ehrenfeucht A, (1986) Information content of binding sites on nucleotide sequences. J Mol Biol 188: 415-431.
-
(1986)
J Mol Biol
, vol.188
, pp. 415-431
-
-
Schneider, T.D.1
Stormo, G.D.2
Gold, L.3
Ehrenfeucht, A.4
-
78
-
-
0347755642
-
ProTherm version 4.0: Thermodynamic database for proteins and mutants
-
Bava KA, Gromiha MM, Uedaira H, Kitajima K, Sarai A, (2004) ProTherm version 4.0: Thermodynamic database for proteins and mutants. Nucleic Acids Res 32: 120-121.
-
(2004)
Nucleic Acids Res
, vol.32
, pp. 120-121
-
-
Bava, K.A.1
Gromiha, M.M.2
Uedaira, H.3
Kitajima, K.4
Sarai, A.5
-
79
-
-
33747858757
-
NOMAD-Ref: visualization, deformation and refinement of macromolecular structures based on all-atom normal mode analysis
-
Lindahl E, Azuara C, Koehl P, Delarue M, (2006) NOMAD-Ref: visualization, deformation and refinement of macromolecular structures based on all-atom normal mode analysis. Nucleic Acids Res 34: 52-56.
-
(2006)
Nucleic Acids Res
, vol.34
, pp. 52-56
-
-
Lindahl, E.1
Azuara, C.2
Koehl, P.3
Delarue, M.4
-
80
-
-
2342518038
-
On the use of low-frequency normal modes to enforce collective movements in refining macromolecular structural models
-
Delarue M, Dumas P, (2004) On the use of low-frequency normal modes to enforce collective movements in refining macromolecular structural models. Proc Natl Acad Sci 101: 6957-6962.
-
(2004)
Proc Natl Acad Sci
, vol.101
, pp. 6957-6962
-
-
Delarue, M.1
Dumas, P.2
|