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Items: 1 to 20 of 95

1.

ISCB's Initial Reaction to The New England Journal of Medicine Editorial on Data Sharing.

Berger B, Gaasterland T, Lengauer T, Orengo C, Gaeta B, Markel S, Valencia A.

PLoS Comput Biol. 2016 Mar 24;12(3):e1004816. doi: 10.1371/journal.pcbi.1004816. eCollection 2016 Mar. No abstract available.

2.

ISCB's initial reaction to New England Journal of Medicine editorial on data sharing.

Valencia A, Markel S, Gaeta B, Gaasterland T, Lengauer T, Berger B, Orengo C.

F1000Res. 2016 Feb 11;5. pii: ISCB Comm J-157. doi: 10.12688/f1000research.8051.1. eCollection 2016.

3.

Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma.

Bailey JN, Loomis SJ, Kang JH, Allingham RR, Gharahkhani P, Khor CC, Burdon KP, Aschard H, Chasman DI, Igo RP Jr, Hysi PG, Glastonbury CA, Ashley-Koch A, Brilliant M, Brown AA, Budenz DL, Buil A, Cheng CY, Choi H, Christen WG, Curhan G, De Vivo I, Fingert JH, Foster PJ, Fuchs C, Gaasterland D, Gaasterland T, Hewitt AW, Hu F, Hunter DJ, Khawaja AP, Lee RK, Li Z, Lichter PR, Mackey DA, McGuffin P, Mitchell P, Moroi SE, Perera SA, Pepper KW, Qi Q, Realini T, Richards JE, Ridker PM, Rimm E, Ritch R, Ritchie M, Schuman JS, Scott WK, Singh K, Sit AJ, Song YE, Tamimi RM, Topouzis F, Viswanathan AC, Verma SS, Vollrath D, Wang JJ, Weisschuh N, Wissinger B, Wollstein G, Wong TY, Yaspan BL, Zack DJ, Zhang K, Study EN; ANZRAG Consortium, Weinreb RN, Pericak-Vance MA, Small K, Hammond CJ, Aung T, Liu Y, Vithana EN, MacGregor S, Craig JE, Kraft P, Howell G, Hauser MA, Pasquale LR, Haines JL, Wiggs JL.

Nat Genet. 2016 Feb;48(2):189-94. doi: 10.1038/ng.3482. Epub 2016 Jan 11.

PMID:
26752265
4.

PPAR-δ is repressed in Huntington's disease, is required for normal neuronal function and can be targeted therapeutically.

Dickey AS, Pineda VV, Tsunemi T, Liu PP, Miranda HC, Gilmore-Hall SK, Lomas N, Sampat KR, Buttgereit A, Torres MJ, Flores AL, Arreola M, Arbez N, Akimov SS, Gaasterland T, Lazarowski ER, Ross CA, Yeo GW, Sopher BL, Magnuson GK, Pinkerton AB, Masliah E, La Spada AR.

Nat Med. 2016 Jan;22(1):37-45. doi: 10.1038/nm.4003. Epub 2015 Dec 7.

5.

Generation of an expandable intermediate mesoderm restricted progenitor cell line from human pluripotent stem cells.

Kumar N, Richter J, Cutts J, Bush KT, Trujillo C, Nigam SK, Gaasterland T, Brafman D, Willert K.

Elife. 2015 Nov 10;4. pii: e08413. doi: 10.7554/eLife.08413.

6.

Endogenous WNT signaling regulates hPSC-derived neural progenitor cell heterogeneity and specifies their regional identity.

Moya N, Cutts J, Gaasterland T, Willert K, Brafman DA.

Stem Cell Reports. 2014 Dec 9;3(6):1015-28. doi: 10.1016/j.stemcr.2014.10.004. Epub 2014 Nov 13.

7.

DNA copy number variants of known glaucoma genes in relation to primary open-angle glaucoma.

Liu Y, Garrett ME, Yaspan BL, Bailey JC, Loomis SJ, Brilliant M, Budenz DL, Christen WG, Fingert JH, Gaasterland D, Gaasterland T, Kang JH, Lee RK, Lichter P, Moroi SE, Realini A, Richards JE, Schuman JS, Scott WK, Singh K, Sit AJ, Vollrath D, Weinreb R, Wollstein G, Zack DJ, Zhang K, Pericak-Vance MA, Haines JL, Pasquale LR, Wiggs JL, Allingham RR, Ashley-Koch AE, Hauser MA.

Invest Ophthalmol Vis Sci. 2014 Nov 20;55(12):8251-8. doi: 10.1167/iovs.14-15712.

8.

Let-7 coordinately suppresses components of the amino acid sensing pathway to repress mTORC1 and induce autophagy.

Dubinsky AN, Dastidar SG, Hsu CL, Zahra R, Djakovic SN, Duarte S, Esau CC, Spencer B, Ashe TD, Fischer KM, MacKenna DA, Sopher BL, Masliah E, Gaasterland T, Chau BN, Pereira de Almeida L, Morrison BE, La Spada AR.

Cell Metab. 2014 Oct 7;20(4):626-38. doi: 10.1016/j.cmet.2014.09.001.

9.

Hypothesis-independent pathway analysis implicates GABA and acetyl-CoA metabolism in primary open-angle glaucoma and normal-pressure glaucoma.

Bailey JN, Yaspan BL, Pasquale LR, Hauser MA, Kang JH, Loomis SJ, Brilliant M, Budenz DL, Christen WG, Fingert J, Gaasterland D, Gaasterland T, Kraft P, Lee RK, Lichter PR, Liu Y, McCarty CA, Moroi SE, Richards JE, Realini T, Schuman JS, Scott WK, Singh K, Sit AJ, Vollrath D, Wollstein G, Zack DJ, Zhang K, Pericak-Vance MA, Allingham RR, Weinreb RN, Haines JL, Wiggs JL.

Hum Genet. 2014 Oct;133(10):1319-30. doi: 10.1007/s00439-014-1468-7. Epub 2014 Jul 19.

10.

Vascular tone pathway polymorphisms in relation to primary open-angle glaucoma.

Kang JH, Loomis SJ, Yaspan BL, Bailey JC, Weinreb RN, Lee RK, Lichter PR, Budenz DL, Liu Y, Realini T, Gaasterland D, Gaasterland T, Friedman DS, McCarty CA, Moroi SE, Olson L, Schuman JS, Singh K, Vollrath D, Wollstein G, Zack DJ, Brilliant M, Sit AJ, Christen WG, Fingert J, Forman JP, Buys ES, Kraft P, Zhang K, Allingham RR, Pericak-Vance MA, Richards JE, Hauser MA, Haines JL, Wiggs JL, Pasquale LR.

Eye (Lond). 2014 Jun;28(6):662-71. doi: 10.1038/eye.2014.42. Epub 2014 Mar 7.

11.

Association of CAV1/CAV2 genomic variants with primary open-angle glaucoma overall and by gender and pattern of visual field loss.

Loomis SJ, Kang JH, Weinreb RN, Yaspan BL, Cooke Bailey JN, Gaasterland D, Gaasterland T, Lee RK, Lichter PR, Budenz DL, Liu Y, Realini T, Friedman DS, McCarty CA, Moroi SE, Olson L, Schuman JS, Singh K, Vollrath D, Wollstein G, Zack DJ, Brilliant M, Sit AJ, Christen WG, Fingert J, Kraft P, Zhang K, Allingham RR, Pericak-Vance MA, Richards JE, Hauser MA, Haines JL, Pasquale LR, Wiggs JL.

Ophthalmology. 2014 Feb;121(2):508-16. doi: 10.1016/j.ophtha.2013.09.012. Epub 2013 Oct 25. Erratum in: Ophthalmology. 2014 May;121(5):1154-5.

12.

The WNT receptor FZD7 is required for maintenance of the pluripotent state in human embryonic stem cells.

Fernandez A, Huggins IJ, Perna L, Brafman D, Lu D, Yao S, Gaasterland T, Carson DA, Willert K.

Proc Natl Acad Sci U S A. 2014 Jan 28;111(4):1409-14. doi: 10.1073/pnas.1323697111. Epub 2014 Jan 13.

13.

Vespucci: a system for building annotated databases of nascent transcripts.

Allison KA, Kaikkonen MU, Gaasterland T, Glass CK.

Nucleic Acids Res. 2014 Feb;42(4):2433-47. doi: 10.1093/nar/gkt1237. Epub 2013 Dec 4.

14.

Analysis of SOX2-expressing cell populations derived from human pluripotent stem cells.

Brafman DA, Moya N, Allen-Soltero S, Fellner T, Robinson M, McMillen ZL, Gaasterland T, Willert K.

Stem Cell Reports. 2013 Oct 31;1(5):464-78. doi: 10.1016/j.stemcr.2013.09.005. eCollection 2013.

15.

WNT5A encodes two isoforms with distinct functions in cancers.

Bauer M, Bénard J, Gaasterland T, Willert K, Cappellen D.

PLoS One. 2013 Nov 18;8(11):e80526. doi: 10.1371/journal.pone.0080526. eCollection 2013.

16.

Estrogen pathway polymorphisms in relation to primary open angle glaucoma: an analysis accounting for gender from the United States.

Pasquale LR, Loomis SJ, Weinreb RN, Kang JH, Yaspan BL, Bailey JC, Gaasterland D, Gaasterland T, Lee RK, Scott WK, Lichter PR, Budenz DL, Liu Y, Realini T, Friedman DS, McCarty CA, Moroi SE, Olson L, Schuman JS, Singh K, Vollrath D, Wollstein G, Zack DJ, Brilliant M, Sit AJ, Christen WG, Fingert J, Kraft P, Zhang K, Allingham RR, Pericak-Vance MA, Richards JE, Hauser MA, Haines JL, Wiggs JL.

Mol Vis. 2013 Jul 12;19:1471-81. Print 2013.

17.

Exome analysis identified a novel mutation in the RBP4 gene in a consanguineous pedigree with retinal dystrophy and developmental abnormalities.

Cukras C, Gaasterland T, Lee P, Gudiseva HV, Chavali VR, Pullakhandam R, Maranhao B, Edsall L, Soares S, Reddy GB, Sieving PA, Ayyagari R.

PLoS One. 2012;7(11):e50205. doi: 10.1371/journal.pone.0050205. Epub 2012 Nov 26.

18.

CDKN2B-AS1 genotype-glaucoma feature correlations in primary open-angle glaucoma patients from the United States.

Pasquale LR, Loomis SJ, Kang JH, Yaspan BL, Abdrabou W, Budenz DL, Chen TC, Delbono E, Friedman DS, Gaasterland D, Gaasterland T, Grosskreutz CL, Lee RK, Lichter PR, Liu Y, McCarty CA, Moroi SE, Olson LM, Realini T, Rhee DJ, Schuman JS, Singh K, Vollrath D, Wollstein G, Zack DJ, Allingham RR, Pericak-Vance MA, Weinreb RN, Zhang K, Hauser MA, Richards JE, Haines JL, Wiggs JL.

Am J Ophthalmol. 2013 Feb;155(2):342-353.e5. doi: 10.1016/j.ajo.2012.07.023. Epub 2012 Oct 27.

19.

Identification of a novel mutation in the CDHR1 gene in a family with recessive retinal degeneration.

Duncan JL, Roorda A, Navani M, Vishweswaraiah S, Syed R, Soudry S, Ratnam K, Gudiseva HV, Lee P, Gaasterland T, Ayyagari R.

Arch Ophthalmol. 2012 Oct;130(10):1301-8. doi: 10.1001/archophthalmol.2012.1906.

20.

The NEIGHBOR consortium primary open-angle glaucoma genome-wide association study: rationale, study design, and clinical variables.

Wiggs JL, Hauser MA, Abdrabou W, Allingham RR, Budenz DL, Delbono E, Friedman DS, Kang JH, Gaasterland D, Gaasterland T, Lee RK, Lichter PR, Loomis S, Liu Y, McCarty C, Medeiros FA, Moroi SE, Olson LM, Realini A, Richards JE, Rozsa FW, Schuman JS, Singh K, Stein JD, Vollrath D, Weinreb RN, Wollstein G, Yaspan BL, Yoneyama S, Zack D, Zhang K, Pericak-Vance M, Pasquale LR, Haines JL.

J Glaucoma. 2013 Sep;22(7):517-25. doi: 10.1097/IJG.0b013e31824d4fd8.

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