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Items: 1 to 20 of 27

1.

mTOR signaling in disease.

Dazert E, Hall MN.

Curr Opin Cell Biol. 2011 Dec;23(6):744-55. doi: 10.1016/j.ceb.2011.09.003. Review.

PMID:
21963299
2.

A mosaic activating mutation in AKT1 associated with the Proteus syndrome.

Lindhurst MJ, Sapp JC, Teer JK, Johnston JJ, Finn EM, Peters K, Turner J, Cannons JL, Bick D, Blakemore L, Blumhorst C, Brockmann K, Calder P, Cherman N, Deardorff MA, Everman DB, Golas G, Greenstein RM, Kato BM, Keppler-Noreuil KM, Kuznetsov SA, Miyamoto RT, Newman K, Ng D, O'Brien K, Rothenberg S, Schwartzentruber DJ, Singhal V, Tirabosco R, Upton J, Wientroub S, Zackai EH, Hoag K, Whitewood-Neal T, Robey PG, Schwartzberg PL, Darling TN, Tosi LL, Mullikin JC, Biesecker LG.

N Engl J Med. 2011 Aug 18;365(7):611-9. doi: 10.1056/NEJMoa1104017.

3.

The roles of EZH2 in cell lineage commitment.

Chou RH, Yu YL, Hung MC.

Am J Transl Res. 2011 May 15;3(3):243-50.

4.

Mutations in CEP57 cause mosaic variegated aneuploidy syndrome.

Snape K, Hanks S, Ruark E, Barros-Núñez P, Elliott A, Murray A, Lane AH, Shannon N, Callier P, Chitayat D, Clayton-Smith J, Fitzpatrick DR, Gisselsson D, Jacquemont S, Asakura-Hay K, Micale MA, Tolmie J, Turnpenny PD, Wright M, Douglas J, Rahman N.

Nat Genet. 2011 Jun;43(6):527-9. doi: 10.1038/ng.822.

5.

Aberrations of EZH2 in cancer.

Chase A, Cross NC.

Clin Cancer Res. 2011 May 1;17(9):2613-8. doi: 10.1158/1078-0432.CCR-10-2156. Review.

6.

Analysis of prevalence and degree of macrocephaly in patients with germline PTEN mutations and of brain weight in Pten knock-in murine model.

Mester JL, Tilot AK, Rybicki LA, Frazier TW 2nd, Eng C.

Eur J Hum Genet. 2011 Jul;19(7):763-8. doi: 10.1038/ejhg.2011.20.

7.

Coordinated activities of wild-type plus mutant EZH2 drive tumor-associated hypertrimethylation of lysine 27 on histone H3 (H3K27) in human B-cell lymphomas.

Sneeringer CJ, Scott MP, Kuntz KW, Knutson SK, Pollock RM, Richon VM, Copeland RA.

Proc Natl Acad Sci U S A. 2010 Dec 7;107(49):20980-5. doi: 10.1073/pnas.1012525107.

8.

Hundreds of variants clustered in genomic loci and biological pathways affect human height.

Lango Allen H, Estrada K, Lettre G, Berndt SI, Weedon MN, Rivadeneira F, Willer CJ, Jackson AU, Vedantam S, Raychaudhuri S, Ferreira T, Wood AR, Weyant RJ, Segrè AV, Speliotes EK, Wheeler E, Soranzo N, Park JH, Yang J, Gudbjartsson D, Heard-Costa NL, Randall JC, Qi L, Vernon Smith A, Mägi R, Pastinen T, Liang L, Heid IM, Luan J, Thorleifsson G, Winkler TW, Goddard ME, Sin Lo K, Palmer C, Workalemahu T, Aulchenko YS, Johansson A, Zillikens MC, Feitosa MF, Esko T, Johnson T, Ketkar S, Kraft P, Mangino M, Prokopenko I, Absher D, Albrecht E, Ernst F, Glazer NL, Hayward C, Hottenga JJ, Jacobs KB, Knowles JW, Kutalik Z, Monda KL, Polasek O, Preuss M, Rayner NW, Robertson NR, Steinthorsdottir V, Tyrer JP, Voight BF, Wiklund F, Xu J, Zhao JH, Nyholt DR, Pellikka N, Perola M, Perry JR, Surakka I, Tammesoo ML, Altmaier EL, Amin N, Aspelund T, Bhangale T, Boucher G, Chasman DI, Chen C, Coin L, Cooper MN, Dixon AL, Gibson Q, Grundberg E, Hao K, Juhani Junttila M, Kaplan LM, Kettunen J, König IR, Kwan T, Lawrence RW, Levinson DF, Lorentzon M, McKnight B, Morris AP, Müller M, Suh Ngwa J, Purcell S, Rafelt S, Salem RM, Salvi E, Sanna S, Shi J, Sovio U, Thompson JR, Turchin MC, Vandenput L, Verlaan DJ, Vitart V, White CC, Ziegler A, Almgren P, Balmforth AJ, Campbell H, Citterio L, De Grandi A, Dominiczak A, Duan J, Elliott P, Elosua R, Eriksson JG, Freimer NB, Geus EJ, Glorioso N, Haiqing S, Hartikainen AL, Havulinna AS, Hicks AA, Hui J, Igl W, Illig T, Jula A, Kajantie E, Kilpeläinen TO, Koiranen M, Kolcic I, Koskinen S, Kovacs P, Laitinen J, Liu J, Lokki ML, Marusic A, Maschio A, Meitinger T, Mulas A, Paré G, Parker AN, Peden JF, Petersmann A, Pichler I, Pietiläinen KH, Pouta A, Ridderstråle M, Rotter JI, Sambrook JG, Sanders AR, Schmidt CO, Sinisalo J, Smit JH, Stringham HM, Bragi Walters G, Widen E, Wild SH, Willemsen G, Zagato L, Zgaga L, Zitting P, Alavere H, Farrall M, McArdle WL, Nelis M, Peters MJ, Ripatti S, van Meurs JB, Aben KK, Ardlie KG, Beckmann JS, Beilby JP, Bergman RN, Bergmann S, Collins FS, Cusi D, den Heijer M, Eiriksdottir G, Gejman PV, Hall AS, Hamsten A, Huikuri HV, Iribarren C, Kähönen M, Kaprio J, Kathiresan S, Kiemeney L, Kocher T, Launer LJ, Lehtimäki T, Melander O, Mosley TH Jr, Musk AW, Nieminen MS, O'Donnell CJ, Ohlsson C, Oostra B, Palmer LJ, Raitakari O, Ridker PM, Rioux JD, Rissanen A, Rivolta C, Schunkert H, Shuldiner AR, Siscovick DS, Stumvoll M, Tönjes A, Tuomilehto J, van Ommen GJ, Viikari J, Heath AC, Martin NG, Montgomery GW, Province MA, Kayser M, Arnold AM, Atwood LD, Boerwinkle E, Chanock SJ, Deloukas P, Gieger C, Grönberg H, Hall P, Hattersley AT, Hengstenberg C, Hoffman W, Lathrop GM, Salomaa V, Schreiber S, Uda M, Waterworth D, Wright AF, Assimes TL, Barroso I, Hofman A, Mohlke KL, Boomsma DI, Caulfield MJ, Cupples LA, Erdmann J, Fox CS, Gudnason V, Gyllensten U, Harris TB, Hayes RB, Jarvelin MR, Mooser V, Munroe PB, Ouwehand WH, Penninx BW, Pramstaller PP, Quertermous T, Rudan I, Samani NJ, Spector TD, Völzke H, Watkins H, Wilson JF, Groop LC, Haritunians T, Hu FB, Kaplan RC, Metspalu A, North KE, Schlessinger D, Wareham NJ, Hunter DJ, O'Connell JR, Strachan DP, Wichmann HE, Borecki IB, van Duijn CM, Schadt EE, Thorsteinsdottir U, Peltonen L, Uitterlinden AG, Visscher PM, Chatterjee N, Loos RJ, Boehnke M, McCarthy MI, Ingelsson E, Lindgren CM, Abecasis GR, Stefansson K, Frayling TM, Hirschhorn JN.

Nature. 2010 Oct 14;467(7317):832-8. doi: 10.1038/nature09410.

9.

Somatic mutations of the histone methyltransferase gene EZH2 in myelodysplastic syndromes.

Nikoloski G, Langemeijer SM, Kuiper RP, Knops R, Massop M, Tönnissen ER, van der Heijden A, Scheele TN, Vandenberghe P, de Witte T, van der Reijden BA, Jansen JH.

Nat Genet. 2010 Aug;42(8):665-7. doi: 10.1038/ng.620.

PMID:
20601954
10.

Inactivating mutations of the histone methyltransferase gene EZH2 in myeloid disorders.

Ernst T, Chase AJ, Score J, Hidalgo-Curtis CE, Bryant C, Jones AV, Waghorn K, Zoi K, Ross FM, Reiter A, Hochhaus A, Drexler HG, Duncombe A, Cervantes F, Oscier D, Boultwood J, Grand FH, Cross NC.

Nat Genet. 2010 Aug;42(8):722-6. doi: 10.1038/ng.621.

PMID:
20601953
11.

Somatic mutations altering EZH2 (Tyr641) in follicular and diffuse large B-cell lymphomas of germinal-center origin.

Morin RD, Johnson NA, Severson TM, Mungall AJ, An J, Goya R, Paul JE, Boyle M, Woolcock BW, Kuchenbauer F, Yap D, Humphries RK, Griffith OL, Shah S, Zhu H, Kimbara M, Shashkin P, Charlot JF, Tcherpakov M, Corbett R, Tam A, Varhol R, Smailus D, Moksa M, Zhao Y, Delaney A, Qian H, Birol I, Schein J, Moore R, Holt R, Horsman DE, Connors JM, Jones S, Aparicio S, Hirst M, Gascoyne RD, Marra MA.

Nat Genet. 2010 Feb;42(2):181-5. doi: 10.1038/ng.518.

12.

Human Splicing Finder: an online bioinformatics tool to predict splicing signals.

Desmet FO, Hamroun D, Lalande M, Collod-Béroud G, Claustres M, Béroud C.

Nucleic Acids Res. 2009 May;37(9):e67. doi: 10.1093/nar/gkp215.

13.

The Polycomb group protein EZH2 directly controls DNA methylation.

Viré E, Brenner C, Deplus R, Blanchon L, Fraga M, Didelot C, Morey L, Van Eynde A, Bernard D, Vanderwinden JM, Bollen M, Esteller M, Di Croce L, de Launoit Y, Fuks F.

Nature. 2006 Feb 16;439(7078):871-4. Erratum in: Nature. 2007 Apr 12;446(7137):824.

PMID:
16357870
14.

Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations.

Tatton-Brown K, Douglas J, Coleman K, Baujat G, Cole TR, Das S, Horn D, Hughes HE, Temple IK, Faravelli F, Waggoner D, Turkmen S, Cormier-Daire V, Irrthum A, Rahman N; Childhood Overgrowth Collaboration..

Am J Hum Genet. 2005 Aug;77(2):193-204.

15.
16.

The functions of E(Z)/EZH2-mediated methylation of lysine 27 in histone H3.

Cao R, Zhang Y.

Curr Opin Genet Dev. 2004 Apr;14(2):155-64. Review.

PMID:
15196462
17.

Human non-synonymous SNPs: server and survey.

Ramensky V, Bork P, Sunyaev S.

Nucleic Acids Res. 2002 Sep 1;30(17):3894-900.

18.

Predicting deleterious amino acid substitutions.

Ng PC, Henikoff S.

Genome Res. 2001 May;11(5):863-74.

19.

Weaver syndrome: autosomal dominant inheritance of the disorder.

Proud VK, Braddock SR, Cook L, Weaver DD.

Am J Med Genet. 1998 Oct 2;79(4):305-10.

PMID:
9781912
20.

Improved splice site detection in Genie.

Reese MG, Eeckman FH, Kulp D, Haussler D.

J Comput Biol. 1997 Fall;4(3):311-23.

PMID:
9278062
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