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Items: 1 to 20 of 148

1.

Tissue-specific genetic control of splicing: implications for the study of complex traits.

Heinzen EL, Ge D, Cronin KD, Maia JM, Shianna KV, Gabriel WN, Welsh-Bohmer KA, Hulette CM, Denny TN, Goldstein DB.

PLoS Biol. 2008 Dec 23;6(12):e1. doi: 10.1371/journal.pbio.1000001.

2.

Detecting tissue-specific regulation of alternative splicing as a qualitative change in microarray data.

Le K, Mitsouras K, Roy M, Wang Q, Xu Q, Nelson SF, Lee C.

Nucleic Acids Res. 2004 Dec 14;32(22):e180.

3.

Genome-wide analysis of transcript isoform variation in humans.

Kwan T, Benovoy D, Dias C, Gurd S, Provencher C, Beaulieu P, Hudson TJ, Sladek R, Majewski J.

Nat Genet. 2008 Feb;40(2):225-31. doi: 10.1038/ng.2007.57.

PMID:
18193047
4.

Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.

Thorleifsson G, Walters GB, Gudbjartsson DF, Steinthorsdottir V, Sulem P, Helgadottir A, Styrkarsdottir U, Gretarsdottir S, Thorlacius S, Jonsdottir I, Jonsdottir T, Olafsdottir EJ, Olafsdottir GH, Jonsson T, Jonsson F, Borch-Johnsen K, Hansen T, Andersen G, Jorgensen T, Lauritzen T, Aben KK, Verbeek AL, Roeleveld N, Kampman E, Yanek LR, Becker LC, Tryggvadottir L, Rafnar T, Becker DM, Gulcher J, Kiemeney LA, Pedersen O, Kong A, Thorsteinsdottir U, Stefansson K.

Nat Genet. 2009 Jan;41(1):18-24. doi: 10.1038/ng.274.

PMID:
19079260
5.

Distribution and effects of nonsense polymorphisms in human genes.

Yamaguchi-Kabata Y, Shimada MK, Hayakawa Y, Minoshima S, Chakraborty R, Gojobori T, Imanishi T.

PLoS One. 2008;3(10):e3393. doi: 10.1371/journal.pone.0003393.

6.

Genome-wide survey of allele-specific splicing in humans.

Nembaware V, Lupindo B, Schouest K, Spillane C, Scheffler K, Seoighe C.

BMC Genomics. 2008 Jun 2;9:265. doi: 10.1186/1471-2164-9-265.

7.

Transcription and splicing regulation in human umbilical vein endothelial cells under hypoxic stress conditions by exon array.

Hang X, Li P, Li Z, Qu W, Yu Y, Li H, Shen Z, Zheng H, Gao Y, Wu Y, Deng M, Sun Z, Zhang C.

BMC Genomics. 2009 Mar 25;10:126. doi: 10.1186/1471-2164-10-126.

8.

The role of heritability in mapping expression quantitative trait loci.

Huang S, Ballard D, Zhao H.

BMC Proc. 2007;1 Suppl 1:S86.

9.

Modifier effects between regulatory and protein-coding variation.

Dimas AS, Stranger BE, Beazley C, Finn RD, Ingle CE, Forrest MS, Ritchie ME, Deloukas P, Tavaré S, Dermitzakis ET.

PLoS Genet. 2008 Oct;4(10):e1000244. doi: 10.1371/journal.pgen.1000244.

10.

A genome-wide association study of global gene expression.

Dixon AL, Liang L, Moffatt MF, Chen W, Heath S, Wong KC, Taylor J, Burnett E, Gut I, Farrall M, Lathrop GM, Abecasis GR, Cookson WO.

Nat Genet. 2007 Oct;39(10):1202-7.

PMID:
17873877
11.

A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits.

Cho YS, Go MJ, Kim YJ, Heo JY, Oh JH, Ban HJ, Yoon D, Lee MH, Kim DJ, Park M, Cha SH, Kim JW, Han BG, Min H, Ahn Y, Park MS, Han HR, Jang HY, Cho EY, Lee JE, Cho NH, Shin C, Park T, Park JW, Lee JK, Cardon L, Clarke G, McCarthy MI, Lee JY, Lee JK, Oh B, Kim HL.

Nat Genet. 2009 May;41(5):527-34. doi: 10.1038/ng.357.

PMID:
19396169
12.

Functional analysis of three splicing mutations identified in the PMM2 gene: toward a new therapy for congenital disorder of glycosylation type Ia.

Vega AI, Pérez-Cerdá C, Desviat LR, Matthijs G, Ugarte M, Pérez B.

Hum Mutat. 2009 May;30(5):795-803. doi: 10.1002/humu.20960.

PMID:
19235233
13.

A whole genome scan to map QTL for milk production traits and somatic cell score in Canadian Holstein bulls.

Kolbehdari D, Wang Z, Grant JR, Murdoch B, Prasad A, Xiu Z, Marques E, Stothard P, Moore SS.

J Anim Breed Genet. 2009 Jun;126(3):216-27. doi: 10.1111/j.1439-0388.2008.00793.x.

PMID:
19646150
14.

VarySysDB: a human genetic polymorphism database based on all H-InvDB transcripts.

Shimada MK, Matsumoto R, Hayakawa Y, Sanbonmatsu R, Gough C, Yamaguchi-Kabata Y, Yamasaki C, Imanishi T, Gojobori T.

Nucleic Acids Res. 2009 Jan;37(Database issue):D810-5. doi: 10.1093/nar/gkn798.

15.

Global genetic robustness of the alternative splicing machinery in Caenorhabditis elegans.

Li Y, Breitling R, Snoek LB, van der Velde KJ, Swertz MA, Riksen J, Jansen RC, Kammenga JE.

Genetics. 2010 Sep;186(1):405-10. doi: 10.1534/genetics.110.119677.

16.

Tissue effect on genetic control of transcript isoform variation.

Kwan T, Grundberg E, Koka V, Ge B, Lam KC, Dias C, Kindmark A, Mallmin H, Ljunggren O, Rivadeneira F, Estrada K, van Meurs JB, Uitterlinden A, Karlsson M, Ohlsson C, Mellström D, Nilsson O, Pastinen T, Majewski J.

PLoS Genet. 2009 Aug;5(8):e1000608. doi: 10.1371/journal.pgen.1000608.

17.

Genome-wide analysis of alternative pre-mRNA splicing.

Ben-Dov C, Hartmann B, Lundgren J, Valcárcel J.

J Biol Chem. 2008 Jan 18;283(3):1229-33. Review.

18.

Powerful identification of cis-regulatory SNPs in human primary monocytes using allele-specific gene expression.

Almlöf JC, Lundmark P, Lundmark A, Ge B, Maouche S, Göring HH, Liljedahl U, Enström C, Brocheton J, Proust C, Godefroy T, Sambrook JG, Jolley J, Crisp-Hihn A, Foad N, Lloyd-Jones H, Stephens J, Gwilliam R, Rice CM, Hengstenberg C, Samani NJ, Erdmann J, Schunkert H, Pastinen T, Deloukas P, Goodall AH, Ouwehand WH, Cambien F, Syvänen AC.

PLoS One. 2012;7(12):e52260. doi: 10.1371/journal.pone.0052260.

19.

Uncovering the genetic landscape for multiple sleep-wake traits.

Winrow CJ, Williams DL, Kasarskis A, Millstein J, Laposky AD, Yang HS, Mrazek K, Zhou L, Owens JR, Radzicki D, Preuss F, Schadt EE, Shimomura K, Vitaterna MH, Zhang C, Koblan KS, Renger JJ, Turek FW.

PLoS One. 2009;4(4):e5161. doi: 10.1371/journal.pone.0005161.

20.

Extreme context specificity in differential allelic expression.

Wilkins JM, Southam L, Price AJ, Mustafa Z, Carr A, Loughlin J.

Hum Mol Genet. 2007 Mar 1;16(5):537-46.

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