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Items: 47

1.

Mining the transcriptome for rare disease therapies: a comparison of the efficiencies of two data mining approaches and a targeted cell-based drug screen.

Mears AJ, Schock SC, Hadwen J, Putos S, Dyment D, Boycott KM, MacKenzie A.

NPJ Genom Med. 2017 Apr 24;2:14. doi: 10.1038/s41525-017-0018-3. eCollection 2017.

2.

Norrin/Frizzled4 signalling in the preneoplastic niche blocks medulloblastoma initiation.

Bassett EA, Tokarew N, Allemano EA, Mazerolle C, Morin K, Mears AJ, McNeill B, Ringuette R, Campbell C, Smiley S, Pokrajac NT, Dubuc AM, Ramaswamy V, Northcott PA, Remke M, Monnier PP, Potter D, Paes K, Kirkpatrick LL, Coker KJ, Rice DS, Perez-Iratxeta C, Taylor MD, Wallace VA.

Elife. 2016 Nov 8;5. pii: e16764. doi: 10.7554/eLife.16764.

3.

Corrigendum: Establishment of a cone photoreceptor transplantation platform based on a novel cone-GFP reporter mouse line.

Smiley S, Nickerson PE, Comanita L, Daftarian N, El-Sehemy A, Tsai EL, Matan-Lithwick S, Yan K, Thurig S, Touahri Y, Dixit R, Aavani T, De Repentigny Y, Baker A, Tsilfidis C, Biernaskie J, Sauvé Y, Schuurmans C, Kothary R, Mears AJ, Wallace VA.

Sci Rep. 2016 Apr 22;6:24012. doi: 10.1038/srep24012. No abstract available.

4.

Establishment of a cone photoreceptor transplantation platform based on a novel cone-GFP reporter mouse line.

Smiley S, Nickerson PE, Comanita L, Daftarian N, El-Sehemy A, Tsai EL, Matan-Lithwick S, Yan K, Thurig S, Touahri Y, Dixit R, Aavani T, De Repentingy Y, Baker A, Tsilfidis C, Biernaskie J, Sauvé Y, Schuurmans C, Kothary R, Mears AJ, Wallace VA.

Sci Rep. 2016 Mar 11;6:22867. doi: 10.1038/srep22867. Erratum in: Sci Rep. 2016 Apr 22;6:24012. De Repentigny, Yves [corrected to De Repentingy, Yves].

5.

A Notch-Gli2 axis sustains Hedgehog responsiveness of neural progenitors and Müller glia.

Ringuette R, Atkins M, Lagali PS, Bassett EA, Campbell C, Mazerolle C, Mears AJ, Picketts DJ, Wallace VA.

Dev Biol. 2016 Mar 1;411(1):85-100. doi: 10.1016/j.ydbio.2016.01.006. Epub 2016 Feb 2.

6.

A novel mutation in two Hmong families broadens the range of STRA6-related malformations to include contractures and camptodactyly.

Marcadier JL, Mears AJ, Woods EA, Fisher J, Airheart C, Qin W, Beaulieu CL, Dyment DA, Innes AM, Curry CJ; Care4Rare Canada Consortium.

Am J Med Genet A. 2016 Jan;170A(1):11-8. doi: 10.1002/ajmg.a.37389. Epub 2015 Sep 16.

PMID:
26373900
7.

Loss of periostin/OSF-2 in ErbB2/Neu-driven tumors results in androgen receptor-positive molecular apocrine-like tumors with reduced Notch1 activity.

Sriram R, Lo V, Pryce B, Antonova L, Mears AJ, Daneshmand M, McKay B, Conway SJ, Muller WJ, Sabourin LA.

Breast Cancer Res. 2015 Jan 16;17:7. doi: 10.1186/s13058-014-0513-8.

8.

Identification of novel retinoic acid target genes.

Savory JG, Edey C, Hess B, Mears AJ, Lohnes D.

Dev Biol. 2014 Nov 15;395(2):199-208. doi: 10.1016/j.ydbio.2014.09.013. Epub 2014 Sep 22.

9.

Snf2h-mediated chromatin organization and histone H1 dynamics govern cerebellar morphogenesis and neural maturation.

Alvarez-Saavedra M, De Repentigny Y, Lagali PS, Raghu Ram EV, Yan K, Hashem E, Ivanochko D, Huh MS, Yang D, Mears AJ, Todd MA, Corcoran CP, Bassett EA, Tokarew NJ, Kokavec J, Majumder R, Ioshikhes I, Wallace VA, Kothary R, Meshorer E, Stopka T, Skoultchi AI, Picketts DJ.

Nat Commun. 2014 Jun 20;5:4181. doi: 10.1038/ncomms5181.

10.

Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia.

Smith AC, Mears AJ, Bunker R, Ahmed A, MacKenzie M, Schwartzentruber JA, Beaulieu CL, Ferretti E; FORGE Canada Consortium, Majewski J, Bulman DE, Celik FC, Boycott KM, Graham GE.

J Med Genet. 2014 Jul;51(7):470-4. doi: 10.1136/jmedgenet-2013-102218. Epub 2014 Apr 4.

PMID:
24706940
11.

Combinatorial hedgehog and mitogen signaling promotes the in vitro expansion but not retinal differentiation potential of retinal progenitor cells.

Ringuette R, Wang Y, Atkins M, Mears AJ, Yan K, Wallace VA.

Invest Ophthalmol Vis Sci. 2014 Jan 2;55(1):43-54. doi: 10.1167/iovs.13-12592.

PMID:
24194188
12.

A role for prenylated rab acceptor 1 in vertebrate photoreceptor development.

Dickison VM, Richmond AM, Abu Irqeba A, Martak JG, Hoge SC, Brooks MJ, Othman MI, Khanna R, Mears AJ, Chowdhury AY, Swaroop A, Ogilvie JM.

BMC Neurosci. 2012 Dec 15;13:152. doi: 10.1186/1471-2202-13-152.

13.

Hedgehog regulates Norrie disease protein to drive neural progenitor self-renewal.

McNeill B, Mazerolle C, Bassett EA, Mears AJ, Ringuette R, Lagali P, Picketts DJ, Paes K, Rice D, Wallace VA.

Hum Mol Genet. 2013 Mar 1;22(5):1005-16. doi: 10.1093/hmg/dds505. Epub 2012 Nov 30.

PMID:
23201751
14.

Snf2l regulates Foxg1-dependent progenitor cell expansion in the developing brain.

Yip DJ, Corcoran CP, Alvarez-Saavedra M, DeMaria A, Rennick S, Mears AJ, Rudnicki MA, Messier C, Picketts DJ.

Dev Cell. 2012 Apr 17;22(4):871-8. doi: 10.1016/j.devcel.2012.01.020.

15.

Identification of Wnt/β-catenin modulated genes in the developing retina.

Ha A, Perez-Iratxeta C, Liu H, Mears AJ, Wallace VA.

Mol Vis. 2012;18:645-56. Epub 2012 Mar 16.

16.

Cdx regulates Dll1 in multiple lineages.

Grainger S, Lam J, Savory JG, Mears AJ, Rijli FM, Lohnes D.

Dev Biol. 2012 Jan 1;361(1):1-11. doi: 10.1016/j.ydbio.2011.09.034. Epub 2011 Oct 8.

17.

Insulin sensitization of human preadipocytes through glucocorticoid hormone induction of forkhead transcription factors.

Tomlinson JJ, Boudreau A, Wu D, Abdou Salem H, Carrigan A, Gagnon A, Mears AJ, Sorisky A, Atlas E, Haché RJ.

Mol Endocrinol. 2010 Jan;24(1):104-13. doi: 10.1210/me.2009-0091. Epub 2009 Nov 3.

18.

Rdh12 activity and effects on retinoid processing in the murine retina.

Chrispell JD, Feathers KL, Kane MA, Kim CY, Brooks M, Khanna R, Kurth I, Hübner CA, Gal A, Mears AJ, Swaroop A, Napoli JL, Sparrow JR, Thompson DA.

J Biol Chem. 2009 Aug 7;284(32):21468-77. doi: 10.1074/jbc.M109.020966. Epub 2009 Jun 8.

19.

Progenitor cell proliferation in the retina is dependent on Notch-independent Sonic hedgehog/Hes1 activity.

Wall DS, Mears AJ, McNeill B, Mazerolle C, Thurig S, Wang Y, Kageyama R, Wallace VA.

J Cell Biol. 2009 Jan 12;184(1):101-12. doi: 10.1083/jcb.200805155. Epub 2009 Jan 5.

20.

Retinoic acid receptor-related orphan receptor alpha regulates a subset of cone genes during mouse retinal development.

Fujieda H, Bremner R, Mears AJ, Sasaki H.

J Neurochem. 2009 Jan;108(1):91-101. doi: 10.1111/j.1471-4159.2008.05739.x. Epub 2008 Nov 8.

21.

Targeting of GFP to newborn rods by Nrl promoter and temporal expression profiling of flow-sorted photoreceptors.

Akimoto M, Cheng H, Zhu D, Brzezinski JA, Khanna R, Filippova E, Oh EC, Jing Y, Linares JL, Brooks M, Zareparsi S, Mears AJ, Hero A, Glaser T, Swaroop A.

Proc Natl Acad Sci U S A. 2006 Mar 7;103(10):3890-5. Epub 2006 Feb 27.

22.

Cone-like morphological, molecular, and electrophysiological features of the photoreceptors of the Nrl knockout mouse.

Daniele LL, Lillo C, Lyubarsky AL, Nikonov SS, Philp N, Mears AJ, Swaroop A, Williams DS, Pugh EN Jr.

Invest Ophthalmol Vis Sci. 2005 Jun;46(6):2156-67.

23.

Recruitment of the rod pathway by cones in the absence of rods.

Strettoi E, Mears AJ, Swaroop A.

J Neurosci. 2004 Aug 25;24(34):7576-82.

24.

Characterization of new transcripts enriched in the mouse retina and identification of candidate retinal disease genes.

Lord-Grignon J, Tétreault N, Mears AJ, Swaroop A, Bernier G.

Invest Ophthalmol Vis Sci. 2004 Sep;45(9):3313-9.

PMID:
15326156
25.

Altered expression of genes of the Bmp/Smad and Wnt/calcium signaling pathways in the cone-only Nrl-/- mouse retina, revealed by gene profiling using custom cDNA microarrays.

Yu J, He S, Friedman JS, Akimoto M, Ghosh D, Mears AJ, Hicks D, Swaroop A.

J Biol Chem. 2004 Oct 1;279(40):42211-20. Epub 2004 Jul 28.

26.

Expression profiling of the developing and mature Nrl-/- mouse retina: identification of retinal disease candidates and transcriptional regulatory targets of Nrl.

Yoshida S, Mears AJ, Friedman JS, Carter T, He S, Oh E, Jing Y, Farjo R, Fleury G, Barlow C, Hero AO, Swaroop A.

Hum Mol Genet. 2004 Jul 15;13(14):1487-503. Epub 2004 May 26.

PMID:
15163632
27.

Connexin 36 in photoreceptor cells: studies on transgenic rod-less and cone-less mouse retinas.

Dang L, Pulukuri S, Mears AJ, Swaroop A, Reese BE, Sitaramayya A.

Mol Vis. 2004 May 11;10:323-7.

28.

Functional analysis of the rod photoreceptor cGMP phosphodiesterase alpha-subunit gene promoter: Nrl and Crx are required for full transcriptional activity.

Pittler SJ, Zhang Y, Chen S, Mears AJ, Zack DJ, Ren Z, Swain PK, Yao S, Swaroop A, White JB.

J Biol Chem. 2004 May 7;279(19):19800-7. Epub 2004 Mar 4.

29.

From disease genes to cellular pathways: a progress report.

Yu J, Mears AJ, Yoshida S, Farjo R, Carter TA, Ghosh D, Hero A, Barlow C, Swaroop A.

Novartis Found Symp. 2004;255:147-60; discussion 160-4, 177-8.

PMID:
14750602
30.
31.

Mutation screening of patients with Leber Congenital Amaurosis or the enhanced S-Cone Syndrome reveals a lack of sequence variations in the NRL gene.

Acar C, Mears AJ, Yashar BM, Maheshwary AS, Andreasson S, Baldi A, Sieving PA, Iannaccone A, Musarella MA, Jacobson SG, Swaroop A.

Mol Vis. 2003 Jan 24;9:14-7.

32.

A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa.

Breuer DK, Yashar BM, Filippova E, Hiriyanna S, Lyons RH, Mears AJ, Asaye B, Acar C, Vervoort R, Wright AF, Musarella MA, Wheeler P, MacDonald I, Iannaccone A, Birch D, Hoffman DR, Fishman GA, Heckenlively JR, Jacobson SG, Sieving PA, Swaroop A.

Am J Hum Genet. 2002 Jun;70(6):1545-54. Epub 2002 Apr 30.

33.

Gene expression profile of native human retinal pigment epithelium.

Buraczynska M, Mears AJ, Zareparsi S, Farjo R, Filippova E, Yuan Y, MacNee SP, Hughes B, Swaroop A.

Invest Ophthalmol Vis Sci. 2002 Mar;43(3):603-7.

PMID:
11867573
34.

Nrl is required for rod photoreceptor development.

Mears AJ, Kondo M, Swain PK, Takada Y, Bush RA, Saunders TL, Sieving PA, Swaroop A.

Nat Genet. 2001 Dec;29(4):447-52.

PMID:
11694879
35.

Multiple phosphorylated isoforms of NRL are expressed in rod photoreceptors.

Swain PK, Hicks D, Mears AJ, Apel IJ, Smith JE, John SK, Hendrickson A, Milam AH, Swaroop A.

J Biol Chem. 2001 Sep 28;276(39):36824-30. Epub 2001 Jul 27.

36.

Remapping of the RP15 locus for X-linked cone-rod degeneration to Xp11.4-p21.1, and identification of a de novo insertion in the RPGR exon ORF15.

Mears AJ, Hiriyanna S, Vervoort R, Yashar B, Gieser L, Fahrner S, Daiger SP, Heckenlively JR, Sieving PA, Wright AF, Swaroop A.

Am J Hum Genet. 2000 Oct;67(4):1000-3. Epub 2000 Sep 1.

37.

Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25.

Mirzayans F, Gould DB, Héon E, Billingsley GD, Cheung JC, Mears AJ, Walter MA.

Eur J Hum Genet. 2000 Jan;8(1):71-4.

38.

Protein-truncation mutations in the RP2 gene in a North American cohort of families with X-linked retinitis pigmentosa.

Mears AJ, Gieser L, Yan D, Chen C, Fahrner S, Hiriyanna S, Fujita R, Jacobson SG, Sieving PA, Swaroop A.

Am J Hum Genet. 1999 Mar;64(3):897-900. No abstract available.

39.

Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly.

Mears AJ, Jordan T, Mirzayans F, Dubois S, Kume T, Parlee M, Ritch R, Koop B, Kuo WL, Collins C, Marshall J, Gould DB, Pearce W, Carlsson P, Enerbäck S, Morissette J, Bhattacharya S, Hogan B, Raymond V, Walter MA.

Am J Hum Genet. 1998 Nov;63(5):1316-28.

40.

Autosomal dominant Axenfeld-Rieger anomaly maps to 6p25.

Gould DB, Mears AJ, Pearce WG, Walter MA.

Am J Hum Genet. 1997 Sep;61(3):765-8. No abstract available.

41.
42.

Autosomal dominant iridogoniodysgenesis anomaly maps to 6p25.

Mears AJ, Mirzayans F, Gould DB, Pearce WG, Walter MA.

Am J Hum Genet. 1996 Dec;59(6):1321-7.

43.
44.

Autosomal-dominant iridogoniodysgenesis and Axenfeld-Rieger syndrome are genetically distinct.

Walter MA, Mirzayans F, Mears AJ, Hickey K, Pearce WG.

Ophthalmology. 1996 Nov;103(11):1907-15.

PMID:
8942889
45.

Minute supernumerary ring chromosome 22 associated with cat eye syndrome: further delineation of the critical region.

Mears AJ, el-Shanti H, Murray JC, McDermid HE, Patil SR.

Am J Hum Genet. 1995 Sep;57(3):667-73.

46.

Molecular characterization of the marker chromosome associated with cat eye syndrome.

Mears AJ, Duncan AM, Budarf ML, Emanuel BS, Sellinger B, Siegel-Bartelt J, Greenberg CR, McDermid HE.

Am J Hum Genet. 1994 Jul;55(1):134-42.

47.

The E subunit of vacuolar H(+)-ATPase localizes close to the centromere on human chromosome 22.

Baud V, Mears AJ, Lamour V, Scamps C, Duncan AM, McDermid HE, Lipinski M.

Hum Mol Genet. 1994 Feb;3(2):335-9.

PMID:
8004105

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