-
2
-
-
0027194791
-
Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families
-
Corder E., Saunders A., Strittmatter W., Schmechel D. E., Gaskell P. C., Small G. W., Roses A. D., Haines J. L., Pericak-Vance M. A., Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families. Science 1993 261 5123 921 923 2-s2.0-0027194791 (Pubitemid 23275809)
-
(1993)
Science
, vol.261
, Issue.5123
, pp. 921-923
-
-
Corder, E.H.1
Saunders, A.M.2
Strittmatter, W.J.3
Schmechel, D.E.4
Gaskell, P.C.5
Small, G.W.6
Roses, A.D.7
Haines, J.L.8
Pericak-Vance, M.A.9
-
3
-
-
79251521030
-
Apolipoprotein e polymorphism and age at onset of Alzheimer's disease in a quadriethnic sample
-
rdoody@bcm.edu 10.1159/000322368
-
Kwon O. D., Khaleeq A., Chan W., Pavlik V. N., Doody R. S., rdoody@bcm.edu Apolipoprotein e polymorphism and age at onset of Alzheimer's disease in a quadriethnic sample. Dementia and Geriatric Cognitive Disorders 2011 30 6 486 491 10.1159/000322368
-
(2011)
Dementia and Geriatric Cognitive Disorders
, vol.30
, Issue.6
, pp. 486-491
-
-
Kwon, O.D.1
Khaleeq, A.2
Chan, W.3
Pavlik, V.N.4
Doody, R.S.5
-
4
-
-
0030005627
-
Apolipoprotein E alleles as risk factors in Alzheimer's disease
-
DOI 10.1146/annurev.med.47.1.387
-
Roses A. D., Apolipoprotein E alleles as risk factors in Alzheimer's disease. Annual Review of Medicine 1996 47 387 400 2-s2.0-0030005627 10.1146/annurev.med.47.1.387 (Pubitemid 26138899)
-
(1996)
Annual Review of Medicine
, vol.47
, pp. 387-400
-
-
Roses, A.D.1
-
5
-
-
0029844205
-
Human apolipoprotein E: The Alzheimer's disease connection
-
Weisgraber K., Mahley R., Human apolipoprotein E: the Alzheimer's disease connection. The FASEB Journal 1996 10 13 1485 1494 2-s2.0-0029844205 (Pubitemid 26384445)
-
(1996)
FASEB Journal
, vol.10
, Issue.13
, pp. 1485-1494
-
-
Weisgraber, K.H.1
Mahley, R.W.2
-
6
-
-
0035834416
-
CNS synaptogenesis promoted by glia-derived cholesterol
-
DOI 10.1126/science.294.5545.1354
-
Mauch D. H., Nägier K., Schumacher S., Göritz C., Müller E. C., Otto A., Pfrieger F. W., CNS synaptogenesis promoted by glia-derived cholesterol. Science 2001 294 5545 1354 1357 2-s2.0-0035834416 10.1126/science.294.5545.1354 (Pubitemid 33063104)
-
(2001)
Science
, vol.294
, Issue.5545
, pp. 1354-1357
-
-
Mauch, D.H.1
Nagier, K.2
Schumacher, S.3
Goritz, C.4
Muller, E.-C.5
Otto, A.6
Pfrieger, F.W.7
-
7
-
-
0345489156
-
Apolipoproteins in human cerebrospinal fluid
-
Roheim P. S., Carey M., Forte T., Vega G. L., Apolipoproteins in human cerebrospinal fluid. Proceedings of the National Academy of Sciences of the United States of America 1979 76 9 4646 4649 2-s2.0-0345489156 (Pubitemid 9253944)
-
(1979)
Proceedings of the National Academy of Sciences of the United States of America
, vol.76
, Issue.9
, pp. 4646-4649
-
-
Roheim, P.S.1
Carey, M.2
Forte, T.3
Vega, G.L.4
-
8
-
-
77956454464
-
Isoform of APOE with retained intron 3; Quantitation and identification of an associated single nucleotide polymorphism
-
Article 34 2-s2.0-77956454464 10.1186/1750-1326-5-34
-
Dieter L. S., Estus S., Isoform of APOE with retained intron 3; quantitation and identification of an associated single nucleotide polymorphism. Molecular Neurodegeneration 2010 5 1, article 34 2-s2.0-77956454464 10.1186/1750-1326-5-34
-
(2010)
Molecular Neurodegeneration
, vol.5
, Issue.1
-
-
Dieter, L.S.1
Estus, S.2
-
9
-
-
34548614932
-
Identification and in silico analysis of functional SNPs of the BRCA1 gene
-
DOI 10.1016/j.ygeno.2007.07.004, PII S0888754307001747
-
Rajasekaran R., Sudandiradoss C., Doss C. G., Sethumadhavan R., Identification and in silico analysis of functional SNPs of the BRCA1 gene. Genomics 2007 90 4 447 452 2-s2.0-34548614932 10.1016/j.ygeno.2007.07.004 (Pubitemid 47404805)
-
(2007)
Genomics
, vol.90
, Issue.4
, pp. 447-452
-
-
Rajasekaran, R.1
Sudandiradoss, C.2
Doss, C.G.P.3
Sethumadhavan, R.4
-
10
-
-
0036081484
-
HGVbase: A human sequence variation database emphasizing data quality and a broad spectrum of data sources
-
Fredman D., Siegfried M., Yuan Y. P., Bork P., Lehväslaiho H., Brookes A. J., HGVbase: a human sequence variation database emphasizing data quality and a broad spectrum of data sources. Nucleic Acids Research 2002 30 1 387 391 2-s2.0-0036081484 (Pubitemid 34679593)
-
(2002)
Nucleic Acids Research
, vol.30
, Issue.1
, pp. 387-391
-
-
Fredman, D.1
Siegfried, M.2
Yuan, Y.P.3
Bork, P.4
Lehvaslaiho, H.5
Brookes, A.J.6
-
11
-
-
0033957472
-
DbSNP: A database of single nucleotide polymorphisms
-
Smigielski E. M., Sirotkin K., Ward M., Sherry S. T., dbSNP: a database of single nucleotide polymorphisms. Nucleic Acids Research 2000 28 1 352 355 2-s2.0-0033957472 (Pubitemid 30047805)
-
(2000)
Nucleic Acids Research
, vol.28
, Issue.1
, pp. 352-355
-
-
Smigielski, E.M.1
Sirotkin, K.2
Ward, M.3
Sherry, S.T.4
-
12
-
-
0033599038
-
Dominant negative mutations in human PPARγ associated with severe insulin resistance, diabetes mellitus and hypertension
-
DOI 10.1038/47254
-
Barroso I., Gurnell M., Crowley V. E., Agostini M., Schwabe J. W., Soos M. A., Maslen G. L., Williams T. D. M., Lewis H., Schafer A. J., Chatterjee V. K. K., O'Rahilly S., Dominant negative mutations in human PPAR γ associated with severe insulin resistance, diabetes mellitus and hypertension. Nature 1999 402 6764 880 883 2-s2.0-0033599038 10.1038/47254 (Pubitemid 30017170)
-
(1999)
Nature
, vol.402
, Issue.6764
, pp. 880-883
-
-
Barroso, I.1
Gurnell, M.2
Crowley, V.E.F.3
Agostini, M.4
Schwabe, J.W.5
Soos, M.A.6
Maslen, G.L.7
Williams, T.D.M.8
Lewis, H.9
Schafer, A.J.10
Chatterjee, V.K.K.11
O'Rahilly, S.12
-
13
-
-
0033365404
-
Identification of mutations in the repeated part of the autosomal dominant polycystic kidney disease type 1 gene, PKD1, by long-range PCR
-
DOI 10.1086/302460
-
Thomas R., McConnell R., Whittacker J., Kirkpatrick P., Bradley J., Sandford R., Identification of mutations in the repeated part of the autosomal dominant polycystic kidney disease type 1 gene, PKD1, by long-range PCR. American Journal of Human Genetics 1999 65 1 39 49 2-s2.0-0033365404 10.1086/302460 (Pubitemid 30470447)
-
(1999)
American Journal of Human Genetics
, vol.65
, Issue.1
, pp. 39-49
-
-
Thomas, R.1
McConnell, R.2
Whittacker, J.3
Kirkpatrick, P.4
Bradley, J.5
Sandford, R.6
-
15
-
-
0029156473
-
In vitro splicing deficiency induced by a C to T mutation at position -3 in the intron 10 acceptor site of the phenylalanine hydroxylase gene in a patient with phenylketonuria
-
2-s2.0-0029156473 10.1074/jbc.270.35.20370
-
Jaruzelska J., Abadie V., d'Aubenton-Carafa Y., Brody E., Munnich A., Marie J., In vitro splicing deficiency induced by a C to T mutation at position -3 in the intron 10 acceptor site of the phenylalanine hydroxylase gene in a patient with phenylketonuria. Journal of Biological Chemistry 1995 270 35 20370 20375 2-s2.0-0029156473 10.1074/jbc.270.35.20370
-
(1995)
Journal of Biological Chemistry
, vol.270
, Issue.35
, pp. 20370-20375
-
-
Jaruzelska, J.1
Abadie, V.2
D'Aubenton-Carafa, Y.3
Brody, E.4
Munnich, A.5
Marie, J.6
-
16
-
-
18544364500
-
Screening for deleterious nonsynonymous single-nucleotide polymorphisms in genes involved in steroid hormone metabolism and response
-
DOI 10.1158/1055-9965.EPI-04-0815
-
Johnson M. M., Houck J., Chen C., Screening for deleterious nonsynonymous single-nucleotide polymorphisms in genes involved in steroid hormone metabolism and response. Cancer Epidemiology Biomarkers and Prevention 2005 14 5 1326 1329 2-s2.0-18544364500 10.1158/1055-9965.EPI-04-0815 (Pubitemid 40656491)
-
(2005)
Cancer Epidemiology Biomarkers and Prevention
, vol.14
, Issue.5
, pp. 1326-1329
-
-
Johnson, M.M.1
Houck, J.2
Chen, C.3
-
17
-
-
65649109273
-
Investigation on the role of nsSNPs in HNPCC genesa bioinformatics approach
-
Article 42 2-s2.0-65649109273 10.1186/1423-0127-16-42
-
Doss C. G., Sethumadhavan R., Investigation on the role of nsSNPs in HNPCC genesa bioinformatics approach. Journal of Biomedical Science 2009 16 1, article 42 2-s2.0-65649109273 10.1186/1423-0127-16-42
-
(2009)
Journal of Biomedical Science
, vol.16
, Issue.1
-
-
Doss, C.G.1
Sethumadhavan, R.2
-
18
-
-
23144461249
-
I-Mutant2.0: Predicting stability changes upon mutation from the protein sequence or structure
-
DOI 10.1093/nar/gki375
-
Capriotti E., Fariselli P., Casadio R., I-Mutant2.0: predicting stability changes upon mutation from the protein sequence or structure. Nucleic Acids Research 2005 33 2 306 310 2-s2.0-23144461249 10.1093/nar/gki375 (Pubitemid 44529932)
-
(2005)
Nucleic Acids Research
, vol.33
-
-
Capriotti, E.1
Fariselli, P.2
Casadio, R.3
-
19
-
-
0035026704
-
Predicting deleterious amino acid substitutions
-
DOI 10.1101/gr.176601
-
Ng P. C., Henikoff S., Predicting deleterious amino acid substitutions. Genome Research 2001 11 5 863 874 2-s2.0-0035026704 10.1101/gr.176601 (Pubitemid 32447869)
-
(2001)
Genome Research
, vol.11
, Issue.5
, pp. 863-874
-
-
Ng, P.C.1
Henikoff, S.2
-
20
-
-
0030801002
-
Gapped BLAST and PSI-BLAST: A new generation of protein database search programs
-
DOI 10.1093/nar/25.17.3389
-
Altschul S. F., Madden T. L., Schäffer A. A., Zhang J., Zhang Z., Miller W., Lipman D. J., Gapped BLAST and PSI-BLAST: a new generation of protein database search programs. Nucleic Acids Research 1997 25 17 3389 3402 2-s2.0-0030801002 10.1093/nar/25.17.3389 (Pubitemid 27359211)
-
(1997)
Nucleic Acids Research
, vol.25
, Issue.17
, pp. 3389-3402
-
-
Altschul, S.F.1
Madden, T.L.2
Schaffer, A.A.3
Zhang, J.4
Zhang, Z.5
Miller, W.6
Lipman, D.J.7
-
21
-
-
0029906607
-
Dirichlet mixtures: A method for improved detection of weak but significant protein sequence homology
-
Sjölander K., Karplus K., Brown M., Hughey R., Krogh A., Mian I. S., Haussler D., Dirichlet mixtures: a method for improved detection of weak but significant protein sequence homology. Computer Applications in the Biosciences 1996 12 4 327 345 2-s2.0-0029906607 (Pubitemid 26345169)
-
(1996)
Computer Applications in the Biosciences
, vol.12
, Issue.4
, pp. 327-345
-
-
Sjolander, K.1
Karplus, K.2
Brown, M.3
Hughey, R.4
Krogh, A.5
Mian, I.S.6
Haussler, D.7
-
22
-
-
2642527702
-
Many amino acid substitution variants identified in DNA repair genes during human population screenings are predicted to impact protein function
-
DOI 10.1016/j.ygeno.2003.12.016, PII S0888754304000229
-
Xi T., Jones I. M., Mohrenweiser H. W., Many amino acid substitution variants identified in DNA repair genes during human population screenings are predicted to impact protein function. Genomics 2004 83 6 970 979 2-s2.0-2642527702 10.1016/j.ygeno.2003.12.016 (Pubitemid 38726046)
-
(2004)
Genomics
, vol.83
, Issue.6
, pp. 970-979
-
-
Xi, T.1
Jones, I.M.2
Mohrenweiser, H.W.3
-
23
-
-
0036713510
-
Human non-synonymous SNPs: Server and survey
-
Ramensky V., Bork P., Sunyaev S., Human non-synonymous SNPs: server and survey. Nucleic Acids Research 2002 30 17 3894 3900 2-s2.0-0036713510 (Pubitemid 35012462)
-
(2002)
Nucleic Acids Research
, vol.30
, Issue.17
, pp. 3894-3900
-
-
Ramensky, V.1
Bork, P.2
Sunyaev, S.3
-
24
-
-
33747832183
-
FASTSNP: An always up-to-date and extendable service for SNP function analysis and prioritization
-
DOI 10.1093/nar/gkl236
-
Yuan H. Y., Chiou J. J., Tseng W. H., Liu C. H., Liu C. K., Lin Y. J., Wang H. H., Yao A., Chen Y. T., Hsu C. N., FASTSNP: an always up-to-date and extendable service for SNP function analysis and prioritization. Nucleic Acids Research 2006 34 W635 W641 2-s2.0-33747832183 10.1093/nar/gkl236 (Pubitemid 44529848)
-
(2006)
Nucleic Acids Research
, vol.34
-
-
Yuan, H.-Y.1
Chiou, J.-J.2
Tseng, W.-H.3
Liu, C.-H.4
Liu, C.-K.5
Lin, Y.-J.6
Wang, H.-H.7
Yao, A.8
Chen, Y.-T.9
Hsu, C.-N.10
-
25
-
-
32144432437
-
The SWISS-MODEL workspace: A web-based environment for protein structure homology modelling
-
DOI 10.1093/bioinformatics/bti770
-
Arnold K., Bordoli L., Kopp J., Schwede T., The SWISS-MODEL workspace: a web-based environment for protein structure homology modelling. Bioinformatics 2006 22 2 195 201 2-s2.0-32144432437 10.1093/bioinformatics/bti770 (Pubitemid 43205406)
-
(2006)
Bioinformatics
, vol.22
, Issue.2
, pp. 195-201
-
-
Arnold, K.1
Bordoli, L.2
Kopp, J.3
Schwede, T.4
-
26
-
-
0030339738
-
AQUA and PROCHECK-NMR: Programs for checking the quality of protein structures solved by NMR
-
Laskowski R. A., Rullmann J. A., MacArthur M. W., Kaptein R., Thornton J. M., AQUA and PROCHECK-NMR: programs for checking the quality of protein structures solved by NMR. Journal of Biomolecular NMR 1996 8 4 477 486 2-s2.0-0030339738 (Pubitemid 126706801)
-
(1996)
Journal of Biomolecular NMR
, vol.8
, Issue.4
, pp. 477-486
-
-
Laskowski, R.A.1
Rullmann, J.A.C.2
MacArthur, M.W.3
Kaptein, R.4
Thornton, J.M.5
-
27
-
-
0025830469
-
A method to identify protein sequences that fold into a known three-dimensional structure
-
Bowie J. U., Luthy R., Eisenberg D., A method to identify protein sequences that fold into a known three-dimensional structure. Science 1991 253 5016 164 170 2-s2.0-0025830469 (Pubitemid 21917131)
-
(1991)
Science
, vol.253
, Issue.5016
, pp. 164-170
-
-
Bowie, J.U.1
Luthy, R.2
Eisenberg, D.3
-
28
-
-
33747858757
-
NOMAD-Ref: Visualization, deformation and refinement of macromolecular structures based on all-atom normal mode analysis
-
DOI 10.1093/nar/gkl082
-
Lindahl E., Azuara C., Koehl P., Delarue M., NOMAD-Ref: visualization, deformation and refinement of macromolecular structures based on all-atom normal mode analysis. Nucleic Acids Research 2006 34 W52 W56 2-s2.0-33747858757 10.1093/nar/gkl082 (Pubitemid 44529734)
-
(2006)
Nucleic Acids Research
, vol.34
-
-
Lindahl, E.1
Azuara, C.2
Koehl, P.3
Delarue, M.4
-
30
-
-
2342518038
-
On the use of low-frequency normal modes to enforce collective movements in refining macromolecular structural models
-
DOI 10.1073/pnas.0400301101
-
Delarue M., Dumas P., On the use of low-frequency normal modes to enforce collective movements in refining macromolecular structural models. Proceedings of the National Academy of Sciences of the United States of America 2004 101 18 6957 6962 2-s2.0-2342518038 10.1073/pnas.0400301101 (Pubitemid 38596425)
-
(2004)
Proceedings of the National Academy of Sciences of the United States of America
, vol.101
, Issue.18
, pp. 6957-6962
-
-
Delarue, M.1
Dumas, P.2
-
31
-
-
33646475098
-
Divergence of interdomain geometry in two-domain proteins
-
2-s2.0-33646475098 10.1016/j.str.2006.01.016
-
Han J. H., Kerrison N., Chothia C., Teichmann S. A., Divergence of interdomain geometry in two-domain proteins. Structure 2006 14 5 935 945 2-s2.0-33646475098 10.1016/j.str.2006.01.016
-
(2006)
Structure
, vol.14
, Issue.5
, pp. 935-945
-
-
Han, J.H.1
Kerrison, N.2
Chothia, C.3
Teichmann, S.A.4
-
32
-
-
0036817538
-
Bioinformatics and molecular modeling in chemical enzymology. Active sites of hydrolases
-
DOI 10.1023/A:1020907122341
-
Varfolomeev S. D., Uporov I. V., Fedorov E. V., Bioinformatics and molecular modeling in chemical enzymology. Active sites of hydrolases. Biochemistry 2002 67 10 1099 1108 2-s2.0-0036817538 10.1023/A:1020907122341 (Pubitemid 35468951)
-
(2002)
Biochemistry (Moscow)
, vol.67
, Issue.10
, pp. 1099-1108
-
-
Varfolomeev, S.D.1
Uporov, I.V.2
Fedorov, E.V.3
-
33
-
-
0036119504
-
Accounting for human polymorphisms predicted to affect protein function
-
DOI 10.1101/gr.212802
-
Ng P. C., Henikoff S., Accounting for human polymorphisms predicted to affect protein function. Genome Research 2002 12 3 436 446 2-s2.0-0036119504 10.1101/gr.212802 (Pubitemid 34233019)
-
(2002)
Genome Research
, vol.12
, Issue.3
, pp. 436-446
-
-
Ng, P.C.1
Henikoff, S.2
-
34
-
-
50249111496
-
A novel computational and structural analysis of nsSNPs in CFTR gene
-
2-s2.0-50249111496 10.1007/s11568-008-9019-8
-
George Priya Doss C., Rajasekaran R., Sudandiradoss C., Ramanathan K., Purohit R., Sethumadhavan R., A novel computational and structural analysis of nsSNPs in CFTR gene. Genomic Medicine 2008 2 1-2 23 32 2-s2.0-50249111496 10.1007/s11568-008-9019-8
-
(2008)
Genomic Medicine
, vol.2
, Issue.1-2
, pp. 23-32
-
-
George Priya Doss, C.1
Rajasekaran, R.2
Sudandiradoss, C.3
Ramanathan, K.4
Purohit, R.5
Sethumadhavan, R.6
-
35
-
-
1542405868
-
An Evolutionary Perspective on Single-Nucleotide Polymorphism Screening in Molecular Cancer Epidemiology
-
DOI 10.1158/0008-5472.CAN-03-2800
-
Zhu Y., Spitz M. R., Amos C. I., Lin J., Schabath M. B., Wu X., An evolutionary perspective on single-nucleotide polymorphism screening in molecular cancer epidemiology. Cancer Research 2004 64 6 2251 2257 2-s2.0-1542405868 10.1158/0008-5472.CAN-03-2800 (Pubitemid 38339480)
-
(2004)
Cancer Research
, vol.64
, Issue.6
, pp. 2251-2257
-
-
Zhu, Y.1
Spitz, M.R.2
Amos, C.I.3
Lin, J.4
Schabath, M.B.5
Wu, X.6
|