![[Feedback]](/icons/banner/feedbackACT.gif){kind=icon}
![[For Subscribers]](/icons/banner/subscriberACT.gif){kind=icon}
![[Archive]](/icons/banner/archiveACT.gif){kind=icon}
![[Search]](/icons/banner/searchACT.gif){kind=icon}
![[Contents]](/icons/banner/tocACT.gif){kind=icon}
|
|
|
|
|
||
|
Vol. 11, Issue 5, 863-874, May 2001
METHODS
| |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|
|
 |
|
  Z-B Jin, M Mandai, T Yokota, K Higuchi, K Ohmori, F Ohtsuki, S Takakura, T Itabashi, Y Wada, M Akimoto, et al. Identifying pathogenic genetic background of simplex or multiplex retinitis pigmentosa patients: a large scale mutation screening study J. Med. Genet., July 1, 2008; 45(7): 465 - 472. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 R. R. McWilliams, W. R. Bamlet, J. M. Cunningham, E. L. Goode, M. de Andrade, L. A. Boardman, and G. M. Petersen Polymorphisms in DNA Repair Genes, Smoking, and Pancreatic Adenocarcinoma Risk Cancer Res., June 15, 2008; 68(12): 4928 - 4935. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 C. Palles, N. Johnson, B. Coupland, C. Taylor, J. Carvajal, J. Holly, I. S. Fentiman, I. dos Santos Silva, A. Ashworth, J. Peto, et al. Identification of genetic variants that influence circulating IGF1 levels: a targeted search strategy Hum. Mol. Genet., May 15, 2008; 17(10): 1457 - 1464. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 M. Plourde, C. Manhes, G. Leblanc, F. Durocher, M. Dumont, O. Sinilnikova, I. BRCAs, and J. Simard Mutation analysis and characterization of HSD17B2 sequence variants in breast cancer cases from French Canadian families with high risk of breast and ovarian cancer J. Mol. Endocrinol., April 1, 2008; 40(4): 161 - 172. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 G. S. Sellick, R. Wade, S. Richards, D. G. Oscier, D. Catovsky, and R. S. Houlston Scan of 977 nonsynonymous SNPs in CLL4 trial patients for the identification of genetic variants influencing prognosis Blood, February 1, 2008; 111(3): 1625 - 1633. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 A. Singh, A. Olowoyeye, P. H. Baenziger, J. Dantzer, M. G. Kann, P. Radivojac, R. Heiland, and S. D. Mooney MutDB: update on development of tools for the biochemical analysis of genetic variation Nucleic Acids Res., January 11, 2008; 36(suppl_1): D815 - D819. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
P. H. Lee and H. Shatkay F-SNP: computationally predicted functional SNPs for disease association studies Nucleic Acids Res., January 11, 2008; 36(suppl_1): D820 - D824. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 B. Shen, J. Bai, and M. Vihinen Physicochemical feature-based classification of amino acid mutations Protein Eng. Des. Sel., January 1, 2008; 21(1): 37 - 44. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 T. D. Gallardo, G. B. John, K. Bradshaw, C. Welt, R. Reijo-Pera, P. H. Vogt, P. Touraine, S. Bione, D. Toniolo, L. M. Nelson, et al. Sequence variation at the human FOXO3 locus: a study of premature ovarian failure and primary amenorrhea Hum. Reprod., January 1, 2008; 23(1): 216 - 221. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 R. J. Hung, M. Baragatti, D. Thomas, J. McKay, N. Szeszenia-Dabrowska, D. Zaridze, J. Lissowska, P. Rudnai, E. Fabianova, D. Mates, et al. Inherited Predisposition of Lung Cancer: A Hierarchical Modeling Approach to DNA Repair and Cell Cycle Control Pathways Cancer Epidemiol. Biomarkers Prev., December 1, 2007; 16(12): 2736 - 2744. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
A Tomita-Mitchell, C L Maslen, C D Morris, V Garg, and E Goldmuntz GATA4 sequence variants in patients with congenital heart disease J. Med. Genet., December 1, 2007; 44(12): 779 - 783. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 M. Masso and I. I. Vaisman Accurate prediction of enzyme mutant activity based on a multibody statistical potential Bioinformatics, December 1, 2007; 23(23): 3155 - 3161. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
F. Panitz, H. Stengaard, H. Hornshoj, J. Gorodkin, J. Hedegaard, S. Cirera, B. Thomsen, L. B. Madsen, A. Hoj, R. K. Vingborg, et al. SNP mining porcine ESTs with MAVIANT, a novel tool for SNP evaluation and annotation Bioinformatics, July 1, 2007; 23(13): i387 - i391. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
Y. Bromberg and B. Rost SNAP: predict effect of non-synonymous polymorphisms on function Nucleic Acids Res., June 28, 2007; 35(11): 3823 - 3835. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
Z.-Q. Ye, S.-Q. Zhao, G. Gao, X.-Q. Liu, R. E. Langlois, H. Lu, and L. Wei Finding new structural and sequence attributes to predict possible disease association of single amino acid polymorphism (SAP) Bioinformatics, June 15, 2007; 23(12): 1444 - 1450. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 P. Kaurah, A. MacMillan, N. Boyd, J. Senz, A. De Luca, N. Chun, G. Suriano, S. Zaor, L. Van Manen, C. Gilpin, et al. Founder and Recurrent CDH1 Mutations in Families With Hereditary Diffuse Gastric Cancer JAMA, June 6, 2007; 297(21): 2360 - 2372. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
N. Johnson, O. Fletcher, C. Palles, M. Rudd, E. Webb, G. Sellick, I. dos Santos Silva, V. McCormack, L. Gibson, A. Fraser, et al. Counting potentially functional variants in BRCA1, BRCA2 and ATM predicts breast cancer susceptibility Hum. Mol. Genet., May 1, 2007; 16(9): 1051 - 1057. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. A. Care, C. J. Needham, A. J. Bulpitt, and D. R. Westhead Deleterious SNP prediction: be mindful of your training data! Bioinformatics, March 15, 2007; 23(6): 664 - 672. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 B. Bhagavath, N. Xu, M. Ozata, R. L. Rosenfield, D. P. Bick, R. J. Sherins, and L. C. Layman KAL1 mutations are not a common cause of idiopathic hypogonadotrophic hypogonadism in humans Mol. Hum. Reprod., March 1, 2007; 13(3): 165 - 170*. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J. Thusberg and M. Vihinen The structural basis of hyper IgM deficiency - CD40L mutations Protein Eng. Des. Sel., March 1, 2007; 20(3): 133 - 141. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J. Park, S. Hwang, Y. S. Lee, S.-C. Kim, and D. Lee SNP@Ethnos: a database of ethnically variant single-nucleotide polymorphisms Nucleic Acids Res., January 12, 2007; 35(suppl_1): D711 - D715. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
E. L. Webb, M. F. Rudd, G. S. Sellick, R. El Galta, L. Bethke, W. Wood, O. Fletcher, S. Penegar, L. Withey, M. Qureshi, et al. Search for low penetrance alleles for colorectal cancer through a scan of 1467 non-synonymous SNPs in 2575 cases and 2707 controls with validation by kin-cohort analysis of 14 704 first-degree relatives Hum. Mol. Genet., November 1, 2006; 15(21): 3263 - 3271. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 P. Bhatti, D. M. Church, J. L. Rutter, J. P. Struewing, and A. J. Sigurdson Candidate Single Nucleotide Polymorphism Selection using Publicly Available Tools: A Guide for Epidemiologists Am. J. Epidemiol., October 15, 2006; 164(8): 794 - 804. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 S. Onengut-Gumuscu, J. H. Buckner, and P. Concannon A Haplotype-Based Analysis of the PTPN22 Locus in Type 1 Diabetes. Diabetes, October 1, 2006; 55(10): 2883 - 2889. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
N L Prigoda, S Savas, S A Abdalla, B Piovesan, D Rushlow, K Vandezande, E Zhang, H Ozcelik, B L Gallie, and M Letarte Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations J. Med. Genet., September 1, 2006; 43(9): 722 - 728. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
N. P. Taylor, M. A. Powell, R. K. Gibb, J. S. Rader, P. C. Huettner, S. N. Thibodeau, D. G. Mutch, and P. J. Goodfellow MLH3 Mutation in Endometrial Cancer. Cancer Res., August 1, 2006; 66(15): 7502 - 7508. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. F. Rudd, G. S. Sellick, E. L. Webb, D. Catovsky, and R. S. Houlston Variants in the ATM-BRCA2-CHEK2 axis predispose to chronic lymphocytic leukemia Blood, July 15, 2006; 108(2): 638 - 644. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 M. F. Rudd, E. L. Webb, A. Matakidou, G. S. Sellick, R. D. Williams, H. Bridle, T. Eisen, R. S. Houlston, and the GELCAPS Consortium Variants in the GH-IGF axis confer susceptibilityto lung cancer. Genome Res., June 1, 2006; 16(6): 693 - 701. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 E. E. Smith, D. G. Buckley, Z. Wu, C. Saenphimmachak, L. R. Hoffman, D. A. D'Argenio, S. I. Miller, B. W. Ramsey, D. P. Speert, S. M. Moskowitz, et al. From the Cover: Genetic adaptation by Pseudomonas aeruginosa to the airways of cystic fibrosis patients PNAS, May 30, 2006; 103(22): 8487 - 8492. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
E. Mathe, M. Olivier, S. Kato, C. Ishioka, P. Hainaut, and S. V. Tavtigian Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods Nucleic Acids Res., March 6, 2006; 34(5): 1317 - 1325. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
T. J. Urban, R. Sebro, E. H. Hurowitz, M. K. Leabman, I. Badagnani, L. L. Lagpacan, N. Risch, and K. M. Giacomini Functional genomics of membrane transporters in human populations Genome Res., February 1, 2006; 16(2): 223 - 230. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
N. Mononen, E. H. Seppala, P. Duggal, V. Autio, T. Ikonen, P. Ellonen, J. Saharinen, J. Saarela, M. Vihinen, T. L.J. Tammela, et al. Profiling Genetic Variation along the Androgen Biosynthesis and Metabolism Pathways Implicates Several Single Nucleotide Polymorphisms and Their Combinations as Prostate Cancer Risk Factors Cancer Res., January 15, 2006; 66(2): 743 - 747. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. F. Rudd, R. D. Williams, E. L. Webb, S. Schmidt, G. S. Sellick, and R. S. Houlston The Predicted Impact of Coding Single Nucleotide Polymorphisms Database Cancer Epidemiol. Biomarkers Prev., November 1, 2005; 14(11): 2598 - 2604. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
E. A. Stone and A. Sidow Physicochemical constraint violation by missense substitutions mediates impairment of protein function and disease severity Genome Res., July 1, 2005; 15(7): 978 - 986. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J. Dantzer, C. Moad, R. Heiland, and S. Mooney MutDB services: interactive structural analysis of mutation data Nucleic Acids Res., July 1, 2005; 33(suppl_2): W311 - W314. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
L. Bao, M. Zhou, and Y. Cui nsSNPAnalyzer: identifying disease-associated nonsynonymous single nucleotide polymorphisms Nucleic Acids Res., July 1, 2005; 33(suppl_2): W480 - W482. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
L. Conde, J. M. Vaquerizas, C. Ferrer-Costa, X. de la Cruz, M. Orozco, and J. Dopazo PupasView: a visual tool for selecting suitable SNPs, with putative pathological effect in genes, for genotyping purposes Nucleic Acids Res., July 1, 2005; 33(suppl_2): W501 - W505. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
T. H. Ehrich, T. Hrbek, J. P. Kenney-Hunt, L. S. Pletscher, B. Wang, C. F. Semenkovich, and J. M. Cheverud Fine-Mapping Gene-by-Diet Interactions on Chromosome 13 in a LG/J x SM/J Murine Model of Obesity Diabetes, June 1, 2005; 54(6): 1863 - 1872. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
L. Bao and Y. Cui Prediction of the phenotypic effects of non-synonymous single nucleotide polymorphisms using structural and evolutionary information Bioinformatics, May 15, 2005; 21(10): 2185 - 2190. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. M. Johnson, J. Houck, and C. Chen Screening for Deleterious Nonsynonymous Single-Nucleotide Polymorphisms in Genes Involved in Steroid Hormone Metabolism and Response Cancer Epidemiol. Biomarkers Prev., May 1, 2005; 14(5): 1326 - 1329. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
H. Rennert, C. M. Zeigler-Johnson, K. Addya, M. J. Finley, A. H. Walker, E. Spangler, D. G.B. Leonard, A. Wein, S. B. Malkowicz, and T. R. Rebbeck Association of Susceptibility Alleles in ELAC2/HPC2, RNASEL/HPC1, and MSR1 with Prostate Cancer Severity in European American and African American Men Cancer Epidemiol. Biomarkers Prev., April 1, 2005; 14(4): 949 - 957. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. Balasubramanian, Y. Xia, E. Freinkman, and M. Gerstein Sequence variation in G-protein-coupled receptors: analysis of single nucleotide polymorphisms Nucleic Acids Res., March 22, 2005; 33(5): 1710 - 1721. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
B. M.G. Smits, B. F.M. van Zutphen, R. H.A. Plasterk, and E. Cuppen Genetic Variation in Coding Regions Between and Within Commonly Used Inbred Rat Strains Genome Res., July 1, 2004; 14(7): 1285 - 1290. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
L. Conde, J. M. Vaquerizas, J. Santoyo, F. Al-Shahrour, S. Ruiz-Llorente, M. Robledo, and J. Dopazo PupaSNP Finder: a web tool for finding SNPs with putative effect at transcriptional level Nucleic Acids Res., July 1, 2004; 32(suppl_2): W242 - W248. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
H. H. Guo, J. Choe, and L. A. Loeb Protein tolerance to random amino acid change PNAS, June 22, 2004; 101(25): 9205 - 9210. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. Savas, D. Y. Kim, M. F. Ahmad, M. Shariff, and H. Ozcelik Identifying Functional Genetic Variants in DNA Repair Pathway Using Protein Conservation Analysis Cancer Epidemiol. Biomarkers Prev., May 1, 2004; 13(5): 801 - 807. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
P. A. Kanetsky, F. Ge, D. Najarian, J. Swoyer, S. Panossian, L. Schuchter, R. Holmes, D. Guerry, and T. R. Rebbeck Assessment of Polymorphic Variants in the Melanocortin-1 Receptor Gene with Cutaneous Pigmentation Using an Evolutionary Approach Cancer Epidemiol. Biomarkers Prev., May 1, 2004; 13(5): 808 - 819. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
C. M. Ulrich, J. Bigler, R. Sparks, J. Whitton, J. G. Sibert, E. L. Goode, Y. Yasui, and J. D. Potter Polymorphisms in PTGS1 (=COX-1) and Risk of Colorectal Polyps Cancer Epidemiol. Biomarkers Prev., May 1, 2004; 13(5): 889 - 893. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
A. Y. Lau and D. I. Chasman Functional classification of proteins and protein variants PNAS, April 27, 2004; 101(17): 6576 - 6581. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 O. Man, Y. Gilad, and D. Lancet Prediction of the odorant binding site of olfactory receptor proteins by human-mouse comparisons Protein Sci., January 1, 2004; 13(1): 240 - 254. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
N. O. Stitziel, T. A. Binkowski, Y. Y. Tseng, S. Kasif, and J. Liang topoSNP: a topographic database of non-synonymous single nucleotide polymorphisms with and without known disease association Nucleic Acids Res., January 1, 2004; 32(90001): D520 - 522. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 H. W. Mohrenweiser Genetic Variation and Exposure Related Risk Estimation: Will Toxicology Enter a New Era? DNA Repair and Cancer as a Paradigm Toxicol Pathol, January 1, 2004; 32(1_suppl): 136 - 145. [Abstract] [PDF]
|
|
|
|
|
|
D. Barash Deleterious mutation prediction in the secondary structure of RNAs Nucleic Acids Res., November 15, 2003; 31(22): 6578 - 6584. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
P. D. Thomas, M. J. Campbell, A. Kejariwal, H. Mi, B. Karlak, R. Daverman, K. Diemer, A. Muruganujan, and A. Narechania PANTHER: A Library of Protein Families and Subfamilies Indexed by Function Genome Res., September 1, 2003; 13(9): 2129 - 2141. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
G. K.-S. Wong, Z. Yang, D. A. Passey, M. Kibukawa, M. Paddock, C.-R. Liu, L. Bolund, and J. Yu A Population Threshold for Functional Polymorphisms Genome Res., August 1, 2003; 13(8): 1873 - 1879. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
N. E. Taylor and E. A. Greene PARSESNP: a tool for the analysis of nucleotide polymorphisms Nucleic Acids Res., July 1, 2003; 31(13): 3808 - 3811. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
P. C. Ng and S. Henikoff SIFT: predicting amino acid changes that affect protein function Nucleic Acids Res., July 1, 2003; 31(13): 3812 - 3814. [Abstract] [Full Text] [PDF] |
