Douglas Gould, PhD

Title(s)Professor, Ophthalmology
SchoolSchool of Medicine
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    Collapse Biography 
    Collapse Education and Training
    University of AlbertaBSc with Specialization in Genetics1995Department of Biological Sciences
    University of AlbertaPhD2001Department of Medical Genetics
    The Jackson LaboratoryPostdoctoral Fellow2006

    Collapse Research 
    Collapse Research Activities and Funding
    Mechanisms of Functional Vascular Impairment In Genetic Models of Cerebral Small Vessel Disease
    NIH/NINDS RF1NS110044Sep 30, 2018 - Jun 30, 2023
    Role: Principal Investigator
    Role of the Unfolded Protein Response in Photoreceptor Degeneration
    NIH/NEI R01EY027810Feb 1, 2018 - Jan 31, 2023
    Role: Principal Investigator
    Genetic and Mechanistic Study of Cerebral Small Vessel Disease
    NIH/NINDS R01NS096173Sep 1, 2017 - Jun 30, 2022
    Role: Principal Investigator
    Investigating the extracellular matrix in vascular development and maintenance
    NIH/NINDS R01NS083830Jul 1, 2014 - Jun 30, 2018
    Role: Principal Investigator
    Genetically testing mechanisms of ocular development and disease
    NIH/NEI R01EY019887Dec 1, 2009 - Jun 30, 2023
    Role: Principal Investigator
    Genetically testing interactions of ER and oxidative stresses in retinal disease
    NIH/NEI R01EY019514May 1, 2009 - Apr 30, 2014
    Role: Principal Investigator

    Collapse ORNG Applications 
    Collapse Featured Publications
    Collapse Websites

    Collapse Bibliographic 
    Collapse Publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help.
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    1. Labelle-Dumais C, Schuitema V, Hayashi G, Hoff K, Gong W, Dao DQ, Ullian EM, Oishi P, Margeta M, Gould DB. COL4A1 Mutations Cause Neuromuscular Disease with Tissue-Specific Mechanistic Heterogeneity. Am J Hum Genet. 2019 May 02; 104(5):847-860. PMID: 31051113.
      View in: PubMed
    2. Hayashi G, Labelle-Dumais C, Gould DB. Use of sodium 4-phenylbutyrate to define therapeutic parameters for reducing intracerebral hemorrhage and myopathy in Col4a1 mutant mice. Dis Model Mech. 2018 07 04; 11(7). PMID: 29895609.
      View in: PubMed
    3. Protas ME, Weh E, Footz T, Kasberger J, Baraban SC, Levin AV, Katz LJ, Ritch R, Walter MA, Semina EV, Gould DB. Mutations of conserved non-coding elements of PITX2 in patients with ocular dysgenesis and developmental glaucoma. Hum Mol Genet. 2017 09 15; 26(18):3630-3638. PMID: 28911203.
      View in: PubMed
    4. Kuo DS, Sokol JT, Minogue PJ, Berthoud VM, Slavotinek AM, Beyer EC, Gould DB. Characterization of a variant of gap junction protein a8 identified in a family with hereditary cataract. PLoS One. 2017; 12(8):e0183438. PMID: 28827829.
      View in: PubMed
    5. Mao M, Kiss M, Ou Y, Gould DB. Genetic dissection of anterior segment dysgenesis caused by a Col4a1 mutation in mouse. Dis Model Mech. 2017 04 01; 10(4):475-485. PMID: 28237965.
      View in: PubMed
    6. Jeanne M, Gould DB. Genotype-phenotype correlations in pathology caused by collagen type IV alpha 1 and 2 mutations. Matrix Biol. 2017 01; 57-58:29-44. PMID: 27794444.
      View in: PubMed
    7. Loscertales M, Nicolaou F, Jeanne M, Longoni M, Gould DB, Sun Y, Maalouf FI, Nagy N, Donahoe PK. Erratum to: Type IV collagen drives alveolar epithelial-endothelial association and the morphogenetic movements of septation. BMC Biol. 2016 Sep 01; 14(1):73. PMID: 27587011.
      View in: PubMed
    8. Proekt I, Miller CN, Jeanne M, Fasano KJ, Moon JJ, Lowell CA, Gould DB, Anderson MS, DeFranco AL. LYN- and AIRE-mediated tolerance checkpoint defects synergize to trigger organ-specific autoimmunity. J Clin Invest. 2016 10 03; 126(10):3758-3771. PMID: 27571405.
      View in: PubMed
    9. Loscertales M, Nicolaou F, Jeanne M, Longoni M, Gould DB, Sun Y, Maalouf FI, Nagy N, Donahoe PK. Type IV collagen drives alveolar epithelial-endothelial association and the morphogenetic movements of septation. BMC Biol. 2016 07 13; 14:59. PMID: 27412481.
      View in: PubMed
    10. Alavi MV, Mao M, Pawlikowski BT, Kvezereli M, Duncan JL, Libby RT, John SW, Gould DB. Col4a1 mutations cause progressive retinal neovascular defects and retinopathy. Sci Rep. 2016 Jan 27; 6:18602. PMID: 26813606; PMCID: PMC4728690.
    11. Mao M, Alavi MV, Labelle-Dumais C, Gould DB. Type IV Collagens and Basement Membrane Diseases: Cell Biology and Pathogenic Mechanisms. Curr Top Membr. 2015; 76:61-116. PMID: 26610912.
      View in: PubMed
    12. Stahl BA, Gross JB, Speiser DI, Oakley TH, Patel NH, Gould DB, Protas ME. A Transcriptomic Analysis of Cave, Surface, and Hybrid Isopod Crustaceans of the Species Asellus aquaticus. PLoS One. 2015; 10(10):e0140484. PMID: 26462237.
      View in: PubMed
    13. Alavi MV, Chiang WC, Kroeger H, Yasumura D, Matthes MT, Iwawaki T, LaVail MM, Gould DB, Lin JH. In Vivo Visualization of Endoplasmic Reticulum Stress in the Retina Using the ERAI Reporter Mouse. Invest Ophthalmol Vis Sci. 2015 Oct; 56(11):6961-70. PMID: 26513501; PMCID: PMC4627472.
    14. Mao M, Smith RS, Alavi MV, Marchant JK, Cosma M, Libby RT, John SW, Gould DB. Strain-Dependent Anterior Segment Dysgenesis and Progression to Glaucoma in Col4a1 Mutant Mice. Invest Ophthalmol Vis Sci. 2015 Oct; 56(11):6823-31. PMID: 26567795; PMCID: PMC4627250.
    15. Jeanne M, Jorgensen J, Gould DB. Molecular and Genetic Analyses of Collagen Type IV Mutant Mouse Models of Spontaneous Intracerebral Hemorrhage Identify Mechanisms for Stroke Prevention. Circulation. 2015 May 05; 131(18):1555-65. PMID: 25753534; PMCID: PMC4497509.
    16. 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. Allosteric inhibition of the IRE1a RNase preserves cell viability and function during endoplasmic reticulum stress. Cell. 2014 Jul 31; 158(3):534-48. PMID: 25018104; PMCID: PMC4244221.
    17. Chen YF, Zhou D, Metzger T, Gallup M, Jeanne M, Gould DB, Anderson MS, McNamara NA. Spontaneous development of autoimmune uveitis Is CCR2 dependent. Am J Pathol. 2014 Jun; 184(6):1695-705. PMID: 24736166; PMCID: PMC4044718.
    18. Aikio M, Hurskainen M, Brideau G, Hägg P, Sormunen R, Heljasvaara R, Gould DB, Pihlajaniemi T. Collagen XVIII short isoform is critical for retinal vascularization, and overexpression of the Tsp-1 domain affects eye growth and cataract formation. Invest Ophthalmol Vis Sci. 2013 Nov 13; 54(12):7450-62. PMID: 24135756.
      View in: PubMed
    19. Kuo DS, Labelle-Dumais C, Mao M, Jeanne M, Kauffman WB, Allen J, Favor J, Gould DB. Allelic heterogeneity contributes to variability in ocular dysgenesis, myopathy and brain malformations caused by Col4a1 and Col4a2 mutations. Hum Mol Genet. 2014 Apr 01; 23(7):1709-22. PMID: 24203695; PMCID: PMC3943517.
    20. Kuo DS, Labelle-Dumais C, Gould DB. COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets. Hum Mol Genet. 2012 Oct 15; 21(R1):R97-110. PMID: 22914737; PMCID: PMC3459649.
    21. Weng YC, Sonni A, Labelle-Dumais C, de Leau M, Kauffman WB, Jeanne M, Biffi A, Greenberg SM, Rosand J, Gould DB. COL4A1 mutations in patients with sporadic late-onset intracerebral hemorrhage. Ann Neurol. 2012 Apr; 71(4):470-7. PMID: 22522439; PMCID: PMC3335762.
    22. 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. COL4A2 mutation associated with familial porencephaly and small-vessel disease. Eur J Hum Genet. 2012 Aug; 20(8):844-51. PMID: 22333902; PMCID: PMC3400734.
    23. Jeanne M, Labelle-Dumais C, Jorgensen J, Kauffman WB, Mancini GM, Favor J, Valant V, Greenberg SM, Rosand J, Gould DB. COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke. Am J Hum Genet. 2012 Jan 13; 90(1):91-101. PMID: 22209247; PMCID: PMC3257894.
    24. Labelle-Dumais C, Dilworth DJ, Harrington EP, de Leau M, Lyons D, Kabaeva Z, Manzini MC, Dobyns WB, Walsh CA, Michele DE, Gould DB. COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans. PLoS Genet. 2011 May; 7(5):e1002062. PMID: 21625620; PMCID: PMC3098190.
    25. 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. Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1. J Med Genet. 2011 Jun; 48(6):375-82. PMID: 21507892; PMCID: PMC4294942.
    26. 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. A male with unilateral microphthalmia reveals a role for TMX3 in eye development. PLoS One. 2010 May 11; 5(5):e10565. PMID: 20485507; PMCID: PMC2868029.
    27. Libby RT, Gould DB. Endoplasmic reticulum stress as a primary pathogenic mechanism leading to age-related macular degeneration. Adv Exp Med Biol. 2010; 664:403-9. PMID: 20238041; PMCID: PMC3068206.
    28. Firtina Z, Danysh BP, Bai X, Gould DB, Kobayashi T, Duncan MK. Abnormal expression of collagen IV in lens activates unfolded protein response resulting in cataract. J Biol Chem. 2009 Dec 18; 284(51):35872-84. PMID: 19858219; PMCID: PMC2791016.
    29. Bai X, Dilworth DJ, Weng YC, Gould DB. Developmental distribution of collagen IV isoforms and relevance to ocular diseases. Matrix Biol. 2009 May; 28(4):194-201. PMID: 19275937; PMCID: PMC4749355.
    30. Vahedi K, Boukobza M, Massin P, Gould DB, Tournier-Lasserve E, Bousser MG. Clinical and brain MRI follow-up study of a family with COL4A1 mutation. Neurology. 2007 Oct 16; 69(16):1564-8. PMID: 17938367.
      View in: PubMed
    31. Lowry RB, Gould DB, Walter MA, Savage PR. Absence of PITX2, BARX1, and FOXC1 mutations in De Hauwere syndrome (Axenfeld-Rieger anomaly, hydrocephaly, hearing loss): a 25-year follow up. Am J Med Genet A. 2007 Jun 01; 143A(11):1227-30. PMID: 17486624.
      View in: PubMed
    32. Gould DB, Marchant JK, Savinova OV, Smith RS, John SW. Col4a1 mutation causes endoplasmic reticulum stress and genetically modifiable ocular dysgenesis. Hum Mol Genet. 2007 Apr 01; 16(7):798-807. PMID: 17317786.
      View in: PubMed
    33. Gould DB, Reedy M, Wilson LA, Smith RS, Johnson RL, John SW. Mutant myocilin nonsecretion in vivo is not sufficient to cause glaucoma. Mol Cell Biol. 2006 Nov; 26(22):8427-36. PMID: 16954374; PMCID: PMC1636791.
    34. Gould DB, Phalan FC, van Mil SE, Sundberg JP, Vahedi K, Massin P, Bousser MG, Heutink P, Miner JH, Tournier-Lasserve E, John SW. Role of COL4A1 in small-vessel disease and hemorrhagic stroke. N Engl J Med. 2006 Apr 06; 354(14):1489-96. PMID: 16598045.
      View in: PubMed
    35. Breedveld G, de Coo IF, Lequin MH, Arts WF, Heutink P, Gould DB, John SW, Oostra B, Mancini GM. Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly. J Med Genet. 2006 Jun; 43(6):490-5. PMID: 16107487; PMCID: PMC2593028.
    36. Gould DB, Phalan FC, Breedveld GJ, van Mil SE, Smith RS, Schimenti JC, Aguglia U, van der Knaap MS, Heutink P, John SW. Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly. Science. 2005 May 20; 308(5725):1167-71. PMID: 15905400.
      View in: PubMed
    37. Anderson MG, Libby RT, Gould DB, Smith RS, John SW. High-dose radiation with bone marrow transfer prevents neurodegeneration in an inherited glaucoma. Proc Natl Acad Sci U S A. 2005 Mar 22; 102(12):4566-71. PMID: 15758074; PMCID: PMC555465.
    38. Libby RT, Gould DB, Anderson MG, John SW. Complex genetics of glaucoma susceptibility. Annu Rev Genomics Hum Genet. 2005; 6:15-44. PMID: 16124852.
      View in: PubMed
    39. Gould DB, Walter MA. Mutational analysis of BARHL1 and BARX1 in three new patients with Joubert syndrome. Am J Med Genet A. 2004 Dec 01; 131(2):205-8. PMID: 15487006.
      View in: PubMed
    40. Gould DB, Miceli-Libby L, Savinova OV, Torrado M, Tomarev SI, Smith RS, John SW. Genetically increasing Myoc expression supports a necessary pathologic role of abnormal proteins in glaucoma. Mol Cell Biol. 2004 Oct; 24(20):9019-25. PMID: 15456875; PMCID: PMC517885.
    41. Gould DB, Jaafar MS, Addison MK, Munier F, Ritch R, MacDonald IM, Walter MA. Phenotypic and molecular assessment of seven patients with 6p25 deletion syndrome: relevance to ocular dysgenesis and hearing impairment. BMC Med Genet. 2004 Jun 25; 5:17. PMID: 15219231; PMCID: PMC455682.
    42. Gould DB, Smith RS, John SW. Anterior segment development relevant to glaucoma. Int J Dev Biol. 2004; 48(8-9):1015-29. PMID: 15558492.
      View in: PubMed
    43. Gould DB, John SW. Anterior segment dysgenesis and the developmental glaucomas are complex traits. Hum Mol Genet. 2002 May 15; 11(10):1185-93. PMID: 12015278.
      View in: PubMed
    44. Gould DB, Walter MA. Cloning, characterization, localization, and mutational screening of the human BARX1 gene. Genomics. 2000 Sep 15; 68(3):336-42. PMID: 10995576.
      View in: PubMed
    45. Mirzayans F, Gould DB, Héon E, Billingsley GD, Cheung JC, Mears AJ, Walter MA. Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25. Eur J Hum Genet. 2000 Jan; 8(1):71-4. PMID: 10713890.
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    46. 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. Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly. Am J Hum Genet. 1998 Nov; 63(5):1316-28. PMID: 9792859.
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    47. Kume T, Deng KY, Winfrey V, Gould DB, Walter MA, Hogan BL. The forkhead/winged helix gene Mf1 is disrupted in the pleiotropic mouse mutation congenital hydrocephalus. Cell. 1998 Jun 12; 93(6):985-96. PMID: 9635428.
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    48. Gould DB, Mears AJ, Pearce WG, Walter MA. Autosomal dominant Axenfeld-Rieger anomaly maps to 6p25. Am J Hum Genet. 1997 Sep; 61(3):765-8. PMID: 9326342.
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    49. Mears AJ, Mirzayans F, Gould DB, Pearce WG, Walter MA. Autosomal dominant iridogoniodysgenesis anomaly maps to 6p25. Am J Hum Genet. 1996 Dec; 59(6):1321-7. PMID: 8940278.
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