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Items: 1 to 20 of 83


Changes in predicted protein disorder tendency may contribute to disease risk.

Hu Y, Liu Y, Jung J, Dunker AK, Wang Y.

BMC Genomics. 2011 Dec 23;12 Suppl 5:S2. doi: 10.1186/1471-2164-12-S5-S2. Epub 2011 Dec 23.


Prioritizing single-nucleotide variations that potentially regulate alternative splicing.

Teng M, Wang Y, Wang G, Jung J, Edenberg HJ, Sanford JR, Liu Y.

BMC Proc. 2011 Nov 29;5 Suppl 9:S40. doi: 10.1186/1753-6561-5-S9-S40.


Functional and Structural Consequence of Rare Exonic Single Nucleotide Polymorphisms: One Story, Two Tales.

Gu W, Gurguis CI, Zhou JJ, Zhu Y, Ko EA, Ko JH, Wang T, Zhou T.

Genome Biol Evol. 2015 Oct 9;7(10):2929-40. doi: 10.1093/gbe/evv191.


Whole genome sequencing of 35 individuals provides insights into the genetic architecture of Korean population.

Zhang W, Meehan J, Su Z, Ng HW, Shu M, Luo H, Ge W, Perkins R, Tong W, Hong H.

BMC Bioinformatics. 2014;15 Suppl 11:S6. doi: 10.1186/1471-2105-15-S11-S6. Epub 2014 Oct 21.


Alternative splicing modulated by genetic variants demonstrates accelerated evolution regulated by highly conserved proteins.

Hsiao YH, Bahn JH, Lin X, Chan TM, Wang R, Xiao X.

Genome Res. 2016 Apr;26(4):440-50. doi: 10.1101/gr.193359.115. Epub 2016 Feb 17.


Both common variations and rare non-synonymous substitutions and small insertion/deletions in CLU are associated with increased Alzheimer risk.

Bettens K, Brouwers N, Engelborghs S, Lambert JC, Rogaeva E, Vandenberghe R, Le Bastard N, Pasquier F, Vermeulen S, Van Dongen J, Mattheijssens M, Peeters K, Mayeux R, St George-Hyslop P, Amouyel P, De Deyn PP, Sleegers K, Van Broeckhoven C.

Mol Neurodegener. 2012 Jan 16;7:3. doi: 10.1186/1750-1326-7-3.


Correlated evolution of nucleotide substitution rates and allelic variation in Mhc-DRB lineages of primates.

Garamszegi LZ, de Groot NG, Bontrop RE.

BMC Evol Biol. 2009 Apr 12;9:73. doi: 10.1186/1471-2148-9-73.


Superiority of a mechanistic codon substitution model even for protein sequences in phylogenetic analysis.

Miyazawa S.

BMC Evol Biol. 2013 Nov 21;13:257. doi: 10.1186/1471-2148-13-257.


Variants in the VCAM1 gene and risk for symptomatic stroke in sickle cell disease.

Taylor JG 6th, Tang DC, Savage SA, Leitman SF, Heller SI, Serjeant GR, Rodgers GP, Chanock SJ.

Blood. 2002 Dec 15;100(13):4303-9. Epub 2002 Aug 15.


Proteome-wide evidence for enhanced positive Darwinian selection within intrinsically disordered regions in proteins.

Nilsson J, Grahn M, Wright AP.

Genome Biol. 2011 Jul 19;12(7):R65. doi: 10.1186/gb-2011-12-7-r65.


Identification and characterization of coding single-nucleotide polymorphisms within human protocadherin-alpha and -beta gene clusters.

Miki R, Hattori K, Taguchi Y, Tada MN, Isosaka T, Hidaka Y, Hirabayashi T, Hashimoto R, Fukuzako H, Yagi T.

Gene. 2005 Apr 11;349:1-14.


Next-generation sequencing study finds an excess of rare, coding single-nucleotide variants of ADAMTS13 in patients with deep vein thrombosis.

Lotta LA, Tuana G, Yu J, Martinelli I, Wang M, Yu F, Passamonti SM, Pappalardo E, Valsecchi C, Scherer SE, Hale W 4th, Muzny DM, Randi G, Rosendaal FR, Gibbs RA, Peyvandi F.

J Thromb Haemost. 2013 Jul;11(7):1228-39. doi: 10.1111/jth.12291.


Nonoptimal codon usage influences protein structure in intrinsically disordered regions.

Zhou M, Wang T, Fu J, Xiao G, Liu Y.

Mol Microbiol. 2015 Sep;97(5):974-87. doi: 10.1111/mmi.13079. Epub 2015 Jun 25.


The unfoldomics decade: an update on intrinsically disordered proteins.

Dunker AK, Oldfield CJ, Meng J, Romero P, Yang JY, Chen JW, Vacic V, Obradovic Z, Uversky VN.

BMC Genomics. 2008 Sep 16;9 Suppl 2:S1. doi: 10.1186/1471-2164-9-S2-S1.


Structural organization and mutational analysis of the human uncoupling protein-2 (hUCP2) gene.

Tu N, Chen H, Winnikes U, Reinert I, Marmann G, Pirke KM, Lentes KU.

Life Sci. 1999;64(3):PL41-50.


Intron retention is a widespread mechanism of tumor-suppressor inactivation.

Jung H, Lee D, Lee J, Park D, Kim YJ, Park WY, Hong D, Park PJ, Lee E.

Nat Genet. 2015 Nov;47(11):1242-8. doi: 10.1038/ng.3414. Epub 2015 Oct 5.


Crohn's disease risk alleles on the NOD2 locus have been maintained by natural selection on standing variation.

Nakagome S, Mano S, Kozlowski L, Bujnicki JM, Shibata H, Fukumaki Y, Kidd JR, Kidd KK, Kawamura S, Oota H.

Mol Biol Evol. 2012 Jun;29(6):1569-85. doi: 10.1093/molbev/mss006. Epub 2012 Jan 12.


SNPdbe: constructing an nsSNP functional impacts database.

Schaefer C, Meier A, Rost B, Bromberg Y.

Bioinformatics. 2012 Feb 15;28(4):601-2. doi: 10.1093/bioinformatics/btr705. Epub 2011 Dec 30.


Assessment of exonic single nucleotide polymorphisms in the adenosine A2A receptor gene to high myopia susceptibility in Chinese subjects.

Chen X, Xue A, Chen W, Ding Y, Yan D, Peng J, Zeng C, Qu J, Zhou X.

Mol Vis. 2011;17:486-91. Epub 2011 Feb 16.


Establishment of a pipeline to analyse non-synonymous SNPs in Bos taurus.

Lee MA, Keane OM, Glass BC, Manley TR, Cullen NG, Dodds KG, McCulloch AF, Morris CA, Schreiber M, Warren J, Zadissa A, Wilson T, McEwan JC.

BMC Genomics. 2006 Nov 26;7:298.

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