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Use of 4-phenylbutyrate to define therapeutic parameters for reducing intracerebral hemorrhage and myopathy in Col4a1 mutant mice.

Hayashi G, Labelle-Dumais C, Gould DB.

Dis Model Mech. 2018 Jun 12. pii: dmm.034157. doi: 10.1242/dmm.034157. [Epub ahead of print]


Mutations of conserved non-coding elements of PITX2 in patients with ocular dysgenesis and developmental glaucoma.

Protas ME, Weh E, Footz T, Kasberger J, Baraban SC, Levin AV, Katz LJ, Ritch R, Walter MA, Semina EV, Gould DB.

Hum Mol Genet. 2017 Sep 15;26(18):3630-3638. doi: 10.1093/hmg/ddx251.


Characterization of a variant of gap junction protein α8 identified in a family with hereditary cataract.

Kuo DS, Sokol JT, Minogue PJ, Berthoud VM, Slavotinek AM, Beyer EC, Gould DB.

PLoS One. 2017 Aug 21;12(8):e0183438. doi: 10.1371/journal.pone.0183438. eCollection 2017.


Genetic dissection of anterior segment dysgenesis caused by a Col4a1 mutation in mouse.

Mao M, Kiss M, Ou Y, Gould DB.

Dis Model Mech. 2017 Apr 1;10(4):475-485. doi: 10.1242/dmm.027888. Epub 2017 Feb 24.


Genotype-phenotype correlations in pathology caused by collagen type IV alpha 1 and 2 mutations.

Jeanne M, Gould DB.

Matrix Biol. 2017 Jan;57-58:29-44. doi: 10.1016/j.matbio.2016.10.003. Epub 2016 Oct 26. Review.


Erratum to: Type IV collagen drives alveolar epithelial-endothelial association and the morphogenetic movements of septation.

Loscertales M, Nicolaou F, Jeanne M, Longoni M, Gould DB, Sun Y, Maalouf FI, Nagy N, Donahoe PK.

BMC Biol. 2016 Sep 1;14(1):73. No abstract available.


LYN- and AIRE-mediated tolerance checkpoint defects synergize to trigger organ-specific autoimmunity.

Proekt I, Miller CN, Jeanne M, Fasano KJ, Moon JJ, Lowell CA, Gould DB, Anderson MS, DeFranco AL.

J Clin Invest. 2016 Oct 3;126(10):3758-3771. doi: 10.1172/JCI84440. Epub 2016 Aug 29.


Type IV collagen drives alveolar epithelial-endothelial association and the morphogenetic movements of septation.

Loscertales M, Nicolaou F, Jeanne M, Longoni M, Gould DB, Sun Y, Maalouf FI, Nagy N, Donahoe PK.

BMC Biol. 2016 Jul 13;14:59. doi: 10.1186/s12915-016-0281-2. Erratum in: BMC Biol. 2016;14:73.


Col4a1 mutations cause progressive retinal neovascular defects and retinopathy.

Alavi MV, Mao M, Pawlikowski BT, Kvezereli M, Duncan JL, Libby RT, John SW, Gould DB.

Sci Rep. 2016 Jan 27;6:18602. doi: 10.1038/srep18602.


Type IV Collagens and Basement Membrane Diseases: Cell Biology and Pathogenic Mechanisms.

Mao M, Alavi MV, Labelle-Dumais C, Gould DB.

Curr Top Membr. 2015;76:61-116. doi: 10.1016/bs.ctm.2015.09.002. Epub 2015 Oct 20. Review.


Strain-Dependent Anterior Segment Dysgenesis and Progression to Glaucoma in Col4a1 Mutant Mice.

Mao M, Smith RS, Alavi MV, Marchant JK, Cosma M, Libby RT, John SW, Gould DB.

Invest Ophthalmol Vis Sci. 2015 Oct;56(11):6823-31. doi: 10.1167/iovs.15-17527.


In Vivo Visualization of Endoplasmic Reticulum Stress in the Retina Using the ERAI Reporter Mouse.

Alavi MV, Chiang WC, Kroeger H, Yasumura D, Matthes MT, Iwawaki T, LaVail MM, Gould DB, Lin JH.

Invest Ophthalmol Vis Sci. 2015 Oct;56(11):6961-70. doi: 10.1167/iovs.15-16969.


A Transcriptomic Analysis of Cave, Surface, and Hybrid Isopod Crustaceans of the Species Asellus aquaticus.

Stahl BA, Gross JB, Speiser DI, Oakley TH, Patel NH, Gould DB, Protas ME.

PLoS One. 2015 Oct 13;10(10):e0140484. doi: 10.1371/journal.pone.0140484. eCollection 2015.


Molecular and Genetic Analyses of Collagen Type IV Mutant Mouse Models of Spontaneous Intracerebral Hemorrhage Identify Mechanisms for Stroke Prevention.

Jeanne M, Jorgensen J, Gould DB.

Circulation. 2015 May 5;131(18):1555-65. doi: 10.1161/CIRCULATIONAHA.114.013395. Epub 2015 Mar 9.


Allosteric inhibition of the IRE1α RNase preserves cell viability and function during endoplasmic reticulum stress.

Ghosh R, Wang L, Wang ES, Perera BG, Igbaria A, Morita S, Prado K, Thamsen M, Caswell D, Macias H, Weiberth KF, Gliedt MJ, Alavi MV, Hari SB, Mitra AK, Bhhatarai B, Schürer SC, Snapp EL, Gould DB, German MS, Backes BJ, Maly DJ, Oakes SA, Papa FR.

Cell. 2014 Jul 31;158(3):534-48. doi: 10.1016/j.cell.2014.07.002. Epub 2014 Jul 10.


Spontaneous development of autoimmune uveitis Is CCR2 dependent.

Chen YF, Zhou D, Metzger T, Gallup M, Jeanne M, Gould DB, Anderson MS, McNamara NA.

Am J Pathol. 2014 Jun;184(6):1695-705. doi: 10.1016/j.ajpath.2014.02.024. Epub 2014 Apr 13.


Allelic heterogeneity contributes to variability in ocular dysgenesis, myopathy and brain malformations caused by Col4a1 and Col4a2 mutations.

Kuo DS, Labelle-Dumais C, Mao M, Jeanne M, Kauffman WB, Allen J, Favor J, Gould DB.

Hum Mol Genet. 2014 Apr 1;23(7):1709-22. doi: 10.1093/hmg/ddt560. Epub 2013 Nov 7.


Collagen XVIII short isoform is critical for retinal vascularization, and overexpression of the Tsp-1 domain affects eye growth and cataract formation.

Aikio M, Hurskainen M, Brideau G, Hägg P, Sormunen R, Heljasvaara R, Gould DB, Pihlajaniemi T.

Invest Ophthalmol Vis Sci. 2013 Nov 13;54(12):7450-62. doi: 10.1167/iovs.13-13039.


COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets.

Kuo DS, Labelle-Dumais C, Gould DB.

Hum Mol Genet. 2012 Oct 15;21(R1):R97-110. Epub 2012 Aug 21. Review.


COL4A1 mutations in patients with sporadic late-onset intracerebral hemorrhage.

Weng YC, Sonni A, Labelle-Dumais C, de Leau M, Kauffman WB, Jeanne M, Biffi A, Greenberg SM, Rosand J, Gould DB.

Ann Neurol. 2012 Apr;71(4):470-7. doi: 10.1002/ana.22682.


COL4A2 mutation associated with familial porencephaly and small-vessel disease.

Verbeek E, Meuwissen ME, Verheijen FW, Govaert PP, Licht DJ, Kuo DS, Poulton CJ, Schot R, Lequin MH, Dudink J, Halley DJ, de Coo RI, den Hollander JC, Oegema R, Gould DB, Mancini GM.

Eur J Hum Genet. 2012 Aug;20(8):844-51. doi: 10.1038/ejhg.2012.20. Epub 2012 Feb 15.


COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke.

Jeanne M, Labelle-Dumais C, Jorgensen J, Kauffman WB, Mancini GM, Favor J, Valant V, Greenberg SM, Rosand J, Gould DB.

Am J Hum Genet. 2012 Jan 13;90(1):91-101. doi: 10.1016/j.ajhg.2011.11.022. Epub 2011 Dec 29.


COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans.

Labelle-Dumais C, Dilworth DJ, Harrington EP, de Leau M, Lyons D, Kabaeva Z, Manzini MC, Dobyns WB, Walsh CA, Michele DE, Gould DB.

PLoS Genet. 2011 May;7(5):e1002062. doi: 10.1371/journal.pgen.1002062. Epub 2011 May 19.


Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.

Slavotinek AM, Baranzini SE, Schanze D, Labelle-Dumais C, Short KM, Chao R, Yahyavi M, Bijlsma EK, Chu C, Musone S, Wheatley A, Kwok PY, Marles S, Fryns JP, Maga AM, Hassan MG, Gould DB, Madireddy L, Li C, Cox TC, Smyth I, Chudley AE, Zenker M.

J Med Genet. 2011 Jun;48(6):375-82. doi: 10.1136/jmg.2011.089631. Epub 2011 Apr 20.


A male with unilateral microphthalmia reveals a role for TMX3 in eye development.

Chao R, Nevin L, Agarwal P, Riemer J, Bai X, Delaney A, Akana M, JimenezLopez N, Bardakjian T, Schneider A, Chassaing N, Schorderet DF, FitzPatrick D, Kwok PY, Ellgaard L, Gould DB, Zhang Y, Malicki J, Baier H, Slavotinek A.

PLoS One. 2010 May 11;5(5):e10565. doi: 10.1371/journal.pone.0010565.


Endoplasmic reticulum stress as a primary pathogenic mechanism leading to age-related macular degeneration.

Libby RT, Gould DB.

Adv Exp Med Biol. 2010;664:403-9. doi: 10.1007/978-1-4419-1399-9_46.


Abnormal expression of collagen IV in lens activates unfolded protein response resulting in cataract.

Firtina Z, Danysh BP, Bai X, Gould DB, Kobayashi T, Duncan MK.

J Biol Chem. 2009 Dec 18;284(51):35872-84. doi: 10.1074/jbc.M109.060384.


Developmental distribution of collagen IV isoforms and relevance to ocular diseases.

Bai X, Dilworth DJ, Weng YC, Gould DB.

Matrix Biol. 2009 May;28(4):194-201. doi: 10.1016/j.matbio.2009.02.004. Epub 2009 Mar 9.


Clinical and brain MRI follow-up study of a family with COL4A1 mutation.

Vahedi K, Boukobza M, Massin P, Gould DB, Tournier-Lasserve E, Bousser MG.

Neurology. 2007 Oct 16;69(16):1564-8.


Col4a1 mutation causes endoplasmic reticulum stress and genetically modifiable ocular dysgenesis.

Gould DB, Marchant JK, Savinova OV, Smith RS, John SW.

Hum Mol Genet. 2007 Apr 1;16(7):798-807. Epub 2007 Feb 22.


Mutant myocilin nonsecretion in vivo is not sufficient to cause glaucoma.

Gould DB, Reedy M, Wilson LA, Smith RS, Johnson RL, John SW.

Mol Cell Biol. 2006 Nov;26(22):8427-36. Epub 2006 Sep 5.


Role of COL4A1 in small-vessel disease and hemorrhagic stroke.

Gould DB, Phalan FC, van Mil SE, Sundberg JP, Vahedi K, Massin P, Bousser MG, Heutink P, Miner JH, Tournier-Lasserve E, John SW.

N Engl J Med. 2006 Apr 6;354(14):1489-96.


Complex genetics of glaucoma susceptibility.

Libby RT, Gould DB, Anderson MG, John SW.

Annu Rev Genomics Hum Genet. 2005;6:15-44. Review.


Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly.

Breedveld G, de Coo IF, Lequin MH, Arts WF, Heutink P, Gould DB, John SW, Oostra B, Mancini GM.

J Med Genet. 2006 Jun;43(6):490-5. Epub 2005 Aug 17.


Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly.

Gould DB, Phalan FC, Breedveld GJ, van Mil SE, Smith RS, Schimenti JC, Aguglia U, van der Knaap MS, Heutink P, John SW.

Science. 2005 May 20;308(5725):1167-71.


High-dose radiation with bone marrow transfer prevents neurodegeneration in an inherited glaucoma.

Anderson MG, Libby RT, Gould DB, Smith RS, John SW.

Proc Natl Acad Sci U S A. 2005 Mar 22;102(12):4566-71. Epub 2005 Mar 9.


Anterior segment development relevant to glaucoma.

Gould DB, Smith RS, John SW.

Int J Dev Biol. 2004;48(8-9):1015-29. Review.


Mutational analysis of BARHL1 and BARX1 in three new patients with Joubert syndrome.

Gould DB, Walter MA.

Am J Med Genet A. 2004 Dec 1;131(2):205-8. No abstract available.


Genetically increasing Myoc expression supports a necessary pathologic role of abnormal proteins in glaucoma.

Gould DB, Miceli-Libby L, Savinova OV, Torrado M, Tomarev SI, Smith RS, John SW.

Mol Cell Biol. 2004 Oct;24(20):9019-25.


Phenotypic and molecular assessment of seven patients with 6p25 deletion syndrome: relevance to ocular dysgenesis and hearing impairment.

Gould DB, Jaafar MS, Addison MK, Munier F, Ritch R, MacDonald IM, Walter MA.

BMC Med Genet. 2004 Jun 25;5:17. Review.


Anterior segment dysgenesis and the developmental glaucomas are complex traits.

Gould DB, John SW.

Hum Mol Genet. 2002 May 15;11(10):1185-93. Review.


The reform of health care funding.

Gould DB.

Hong Kong Med J. 2001 Jun;7(2):150-4.


Cloning, characterization, localization, and mutational screening of the human BARX1 gene.

Gould DB, Walter MA.

Genomics. 2000 Sep 15;68(3):336-42.


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.


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.


The forkhead/winged helix gene Mf1 is disrupted in the pleiotropic mouse mutation congenital hydrocephalus.

Kume T, Deng KY, Winfrey V, Gould DB, Walter MA, Hogan BL.

Cell. 1998 Jun 12;93(6):985-96.


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.


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.


Venous air embolism retrieval catheters cannot capture bubbles; an air lock is required.

Gould DS, Gould DB.

Acta Anaesthesiol Scand. 1996 Feb;40(2):272-4.


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