Douglas Gould, PhD

Title(s)Professor, Ophthalmology
SchoolSchool of Medicine
Address555 Mission Bay Blvd South, #252V
San Francisco CA 94158
Phone415-476-3592
ORCID ORCID Icon0000-0001-5127-5328 Additional info
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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 Overview 

    Collapse Research 
    Collapse Research Activities and Funding
    Development and validation of novel models for cerebral small vessel disease and vascular cognitive impairment
    NIH R33NS115132Sep 18, 2019 - Aug 31, 2024
    Role: Principal Investigator
    Development and validation of novel models for cerebral small vessel disease and vascular cognitive impairment
    NIH R61NS115132Sep 18, 2019 - Aug 31, 2021
    Role: Principal Investigator
    Mechanisms of Functional Vascular Impairment In Genetic Models of Cerebral Small Vessel Disease
    NIH RF1NS110044Sep 30, 2018 - May 31, 2023
    Role: Principal Investigator
    Role of the Unfolded Protein Response in Photoreceptor Degeneration
    NIH R01EY027810Feb 1, 2018 - Jan 31, 2023
    Role: Principal Investigator
    Genetic and Mechanistic Study of Cerebral Small Vessel Disease
    NIH R01NS096173Sep 1, 2017 - Jun 30, 2022
    Role: Principal Investigator
    Investigating the extracellular matrix in vascular development and maintenance
    NIH R01NS083830Jul 1, 2014 - Jun 30, 2018
    Role: Principal Investigator
    Genetically testing mechanisms of ocular development and disease
    NIH R01EY019887Dec 1, 2009 - Jun 30, 2023
    Role: Principal Investigator
    Genetically testing interactions of ER and oxidative stresses in retinal disease
    NIH R01EY019514May 1, 2009 - Apr 30, 2014
    Role: Principal Investigator

    Collapse ORNG Applications 
    Collapse Featured Publications

    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. to make corrections and additions.
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    Altmetrics Details PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Skeletal pathology in mouse models of Gould syndrome is partially alleviated by genetically reducing TGFβ signaling. Matrix Biol. 2024 Nov; 133:1-13. Labelle-Dumais C, Mazur C, Kaya S, Obata Y, Lee B, Acevedo C, Alliston T, Gould DB. PMID: 39097038.
      View in: PubMed   Mentions:    Fields:    Translation:AnimalsCells
    2. Evaluating neural crest cell migration in a Col4a1 mutant mouse model of ocular anterior segment dysgenesis. Cells Dev. 2024 Sep; 179:203926. Cozzitorto C, Peltz Z, Flores LM, Della Santina L, Mao M, Gould DB. PMID: 38729574.
      View in: PubMed   Mentions:    Fields:    Translation:Animals
    3. TGFβ Signaling Dysregulation May Contribute to COL4A1-Related Glaucomatous Optic Nerve Damage. Invest Ophthalmol Vis Sci. 2024 May 01; 65(5):15. Mao M, Kuo YM, Yu AK, Labelle-Dumais C, Ou Y, Gould DB. PMID: 38717426; PMCID: PMC11090142.
      View in: PubMed   Mentions:    Fields:    Translation:AnimalsCells
    4. Tracking the role of Aire in immune tolerance to the eye with a TCR transgenic mouse model. Proc Natl Acad Sci U S A. 2024 Jan 30; 121(5):e2311487121. Yin M, Smith JA, Chou M, Chan J, Jittayasothorn Y, Gould DB, Caspi RR, Anderson MS, DeFranco AL. PMID: 38261611; PMCID: PMC10835137.
      View in: PubMed   Mentions: 1     Fields:    Translation:Animals
    5. Impaired intracellular Ca2+ signaling contributes to age-related cerebral small vessel disease in Col4a1 mutant mice. Sci Signal. 2023 11 14; 16(811):eadi3966. Yamasaki E, Thakore P, Ali S, Sanchez Solano A, Wang X, Gao X, Labelle-Dumais C, Chaumeil MM, Gould DB, Earley S. PMID: 37963192; PMCID: PMC10726848.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansAnimalsCells
    6. Local Net Charge State of Collagen Triple Helix Is a Determinant of FKBP22 Binding to Collagen III. Int J Mol Sci. 2023 Oct 13; 24(20). Ishikawa Y, Bonna A, Gould DB, Farndale RW. PMID: 37894834; PMCID: PMC10607241.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    7. PI3K block restores age-dependent neurovascular coupling defects associated with cerebral small vessel disease. Proc Natl Acad Sci U S A. 2023 08 29; 120(35):e2306479120. Thakore P, Yamasaki E, Ali S, Sanchez Solano A, Labelle-Dumais C, Gao X, Chaumeil MM, Gould DB, Earley S. PMID: 37607233; PMCID: PMC10467353.
      View in: PubMed   Mentions: 4     Fields:    Translation:AnimalsCells
    8. Deletion of the Unfolded Protein Response Transducer IRE1α Is Detrimental to Aging Photoreceptors and to ER Stress-Mediated Retinal Degeneration. Invest Ophthalmol Vis Sci. 2023 04 03; 64(4):30. Massoudi D, Gorman S, Kuo YM, Iwawaki T, Oakes SA, Papa FR, Gould DB. PMID: 37097227; PMCID: PMC10148664.
      View in: PubMed   Mentions: 2     Fields:    Translation:AnimalsCells
    9. PI3K block restores age-dependent neurovascular coupling defects associated with cerebral small vessel disease. bioRxiv. 2023 Mar 06. Thakore P, Yamasaki E, Ali S, Solano AS, Labelle-Dumais C, Gao X, Chaumeil MM, Gould DB, Earley S. PMID: 36945616; PMCID: PMC10028793.
      View in: PubMed   Mentions:
    10. Faulty TRPM4 channels underlie age-dependent cerebral vascular dysfunction in Gould syndrome. Proc Natl Acad Sci U S A. 2023 01 31; 120(5):e2217327120. Yamasaki E, Ali S, Sanchez Solano A, Thakore P, Smith M, Wang X, Labelle-Dumais C, Gould DB, Earley S. PMID: 36693102; PMCID: PMC9945977.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansAnimals
    11. Elevated TGFβ signaling contributes to cerebral small vessel disease in mouse models of Gould syndrome. Matrix Biol. 2023 01; 115:48-70. Branyan K, Labelle-Dumais C, Wang X, Hayashi G, Lee B, Peltz Z, Gorman S, Li BQ, Mao M, Gould DB. PMID: 36435425; PMCID: PMC10393528.
      View in: PubMed   Mentions: 5     Fields:    Translation:AnimalsCells
    12. Lysyl hydroxylase 3-mediated post-translational modifications are required for proper biosynthesis of collagen α1α1α2(IV). J Biol Chem. 2022 12; 298(12):102713. Ishikawa Y, Taga Y, Coste T, Tufa SF, Keene DR, Mizuno K, Tournier-Lasserve E, Gould DB. PMID: 36403858; PMCID: PMC9761383.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    13. Elevated TGFβ signaling contributes to ocular anterior segment dysgenesis in Col4a1 mutant mice. Matrix Biol. 2022 06; 110:151-173. Mao M, Labelle-Dumais C, Tufa SF, Keene DR, Gould DB. PMID: 35525525; PMCID: PMC10410753.
      View in: PubMed   Mentions: 5     Fields:    Translation:AnimalsCells
    14. Development of uveitis in a mouse model of spontaneous autoimmunity correlates with frequency of autoantigen-specific regulatory T cells. The Journal of Immunology. 2022 May 1; 208(1_Supplement):44.07-44.07. Yin YM, Hiam HK, Proekt PI, Chan CJ, Hu HY, Lowell LC, Gould GD, Spitzer SM, Anderson AM, DeFranco DA. .
      View in: Publisher Site   Mentions:
    15. Autoantigen specific T-cell receptor induces organ-specific autoimmunity by escaping T cell negative selection. The Journal of Immunology. 2022 May 1; 208(1_Supplement):104.02-104.02. Yin YM, Smith SJ, Chou CM, Chan CJ, Hu HY, Lowell LC, Gould GD, Anderson AM, DeFranco DA. .
      View in: Publisher Site   Mentions:
    16. COL4A1/COL4A2 and inherited platelet disorder gene variants in fetuses showing intracranial hemorrhage. Prenat Diagn. 2022 05; 42(5):601-610. Coste T, Vincent-Delorme C, Stichelbout M, Devisme L, Gelot A, Deryabin I, Pelluard F, Aloui C, Leutenegger AL, Jouannic JM, Héron D, Gould DB, Tournier-Lasserve E. PMID: 35150448; PMCID: PMC10434296.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    17. Epilepsy and related challenges in children with COL4A1 and COL4A2 mutations: A Gould syndrome patient registry. Epilepsy Behav. 2021 12; 125:108365. Boyce D, McGee S, Shank L, Pathak S, Gould D. PMID: 34735964.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    18. Expanding the horizon of research into the pathogenesis of the white matter diseases: Proceedings of the 2021 Annual Workshop of the Albert Research Institute for White Matter and Cognition. Geroscience. 2022 02; 44(1):25-37. Whitehead SN, Bruno A, Burns JM, Carmichael ST, Csiszar A, Edwards JD, Elahi FM, Faraco G, Gould DB, Gustafson DR, Hachinski V, Rosenberg G, Sorond FA, Shih AY, Tse KH, Ungvari Z, Wilcock DM, Zuloaga KL, Barone FC. PMID: 34606040; PMCID: PMC8488071.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    19. T-cell receptor repertoire of mice with organ-specific autoimmunity resulting from a partial defect in T cell negative selection and dendritic cell enhancement. The Journal of Immunology. 2021 May 1; 206(1_Supplement):51.06-51.06. Yin YM, Smith SJ, Chou CM, Chan CJ, Hu HY, Lowell LC, Gould GD, Anderson AM, DeFranco DA. .
      View in: Publisher Site   Mentions:
    20. Correlation of autoantigen-specific Treg frequency with development of spontaneous organ-specific autoimmunity in a mouse model of uveitis. The Journal of Immunology. 2021 May 1; 206(1_Supplement):51.05-51.05. Yin YM, Hiam HK, Proekt PI, Chan CJ, Hu HY, Lowell LC, Gould GD, Anderson AM, DeFranco DA. .
      View in: Publisher Site   Mentions:
    21. Identification of fibronectin 1 as a candidate genetic modifier in a Col4a1 mutant mouse model of Gould syndrome. Dis Model Mech. 2021 04 01; 14(4). Mao M, Popli T, Jeanne M, Hoff K, Sen S, Gould DB. PMID: 34424299; PMCID: PMC8106953.
      View in: PubMed   Mentions: 6     Fields:    Translation:AnimalsCells
    22. Type I and type V procollagen triple helix uses different subsets of the molecular ensemble for lysine posttranslational modifications in the rER. J Biol Chem. 2021 Jan-Jun; 296:100453. Ishikawa Y, Taga Y, Zientek K, Mizuno N, Salo AM, Semenova O, Tufa SF, Keene DR, Holden P, Mizuno K, Gould DB, Myllyharju J, Bächinger HP. PMID: 33631195; PMCID: PMC7988497.
      View in: PubMed   Mentions: 8     Fields:    Translation:AnimalsCells
    23. Aberrant binding of mutant HSP47 affects posttranslational modification of type I collagen and leads to osteogenesis imperfecta. PLoS Genet. 2021 02; 17(2):e1009339. Syx D, Ishikawa Y, Gebauer J, Boudko SP, Guillemyn B, Van Damme T, D'hondt S, Symoens S, Nampoothiri S, Gould DB, Baumann U, Bächinger HP, Malfait F. PMID: 33524049; PMCID: PMC7877763.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansCells
    24. The novel missense mutation Met48Lys in FKBP22 changes its structure and functions. Sci Rep. 2020 01 16; 10(1):497. Ishikawa Y, Mizuno N, Holden P, Lim PJ, Gould DB, Rohrbach M, Giunta C, Bächinger HP. PMID: 31949249; PMCID: PMC6965642.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    25. COL4A1 Mutations Cause Neuromuscular Disease with Tissue-Specific Mechanistic Heterogeneity. Am J Hum Genet. 2019 05 02; 104(5):847-860. Labelle-Dumais C, Schuitema V, Hayashi G, Hoff K, Gong W, Dao DQ, Ullian EM, Oishi P, Margeta M, Gould DB. PMID: 31051113; PMCID: PMC6506795.
      View in: PubMed   Mentions: 21     Fields:    Translation:HumansAnimals
    26. 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). Hayashi G, Labelle-Dumais C, Gould DB. PMID: 29895609; PMCID: PMC6078406.
      View in: PubMed   Mentions: 11     Fields:    Translation:Animals
    27. 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. Protas ME, Weh E, Footz T, Kasberger J, Baraban SC, Levin AV, Katz LJ, Ritch R, Walter MA, Semina EV, Gould DB. PMID: 28911203; PMCID: PMC5886142.
      View in: PubMed   Mentions: 18     Fields:    Translation:HumansAnimalsCells
    28. Characterization of a variant of gap junction protein α8 identified in a family with hereditary cataract. PLoS One. 2017; 12(8):e0183438. Kuo DS, Sokol JT, Minogue PJ, Berthoud VM, Slavotinek AM, Beyer EC, Gould DB. PMID: 28827829; PMCID: PMC5565107.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansCells
    29. Genetic dissection of anterior segment dysgenesis caused by a Col4a1 mutation in mouse. Dis Model Mech. 2017 04 01; 10(4):475-485. Mao M, Kiss M, Ou Y, Gould DB. PMID: 28237965; PMCID: PMC5399567.
      View in: PubMed   Mentions: 13     Fields:    Translation:Animals
    30. Genotype-phenotype correlations in pathology caused by collagen type IV alpha 1 and 2 mutations. Matrix Biol. 2017 01; 57-58:29-44. Jeanne M, Gould DB. PMID: 27794444; PMCID: PMC5328961.
      View in: PubMed   Mentions: 53     Fields:    Translation:HumansAnimalsCells
    31. Erratum to: Type IV collagen drives alveolar epithelial-endothelial association and the morphogenetic movements of septation. BMC Biol. 2016 Sep 01; 14(1):73. Loscertales M, Nicolaou F, Jeanne M, Longoni M, Gould DB, Sun Y, Maalouf FI, Nagy N, Donahoe PK. PMID: 27587011; PMCID: PMC5009649.
      View in: PubMed   Mentions:    Fields:    
    32. LYN- and AIRE-mediated tolerance checkpoint defects synergize to trigger organ-specific autoimmunity. J Clin Invest. 2016 10 03; 126(10):3758-3771. Proekt I, Miller CN, Jeanne M, Fasano KJ, Moon JJ, Lowell CA, Gould DB, Anderson MS, DeFranco AL. PMID: 27571405; PMCID: PMC5087700.
      View in: PubMed   Mentions: 17     Fields:    Translation:AnimalsCells
    33. Type IV collagen drives alveolar epithelial-endothelial association and the morphogenetic movements of septation. BMC Biol. 2016 07 13; 14:59. Loscertales M, Nicolaou F, Jeanne M, Longoni M, Gould DB, Sun Y, Maalouf FI, Nagy N, Donahoe PK. PMID: 27412481; PMCID: PMC4942891.
      View in: PubMed   Mentions: 31     Fields:    Translation:HumansAnimalsCells
    34. Triggering of organ-specific autoimmunity through synergy of defects in key tolerance checkpoints. The Journal of Immunology. 2016 May 1; 196(1_Supplement):117.1-117.1. Proekt PI, Miller MC, Jeanne JM, Fasano FK, Lowell LC, Gould GD, Anderson AM, DeFranco DA. .
      View in: Publisher Site   Mentions:
    35. Col4a1 mutations cause progressive retinal neovascular defects and retinopathy. Sci Rep. 2016 Jan 27; 6:18602. Alavi MV, Mao M, Pawlikowski BT, Kvezereli M, Duncan JL, Libby RT, John SW, Gould DB. PMID: 26813606; PMCID: PMC4728690.
      View in: PubMed   Mentions: 20     Fields:    Translation:Animals
    36. Type IV Collagens and Basement Membrane Diseases: Cell Biology and Pathogenic Mechanisms. Curr Top Membr. 2015; 76:61-116. Mao M, Alavi MV, Labelle-Dumais C, Gould DB. PMID: 26610912.
      View in: PubMed   Mentions: 40     Fields:    Translation:HumansAnimalsCells
    37. A Transcriptomic Analysis of Cave, Surface, and Hybrid Isopod Crustaceans of the Species Asellus aquaticus. PLoS One. 2015; 10(10):e0140484. Stahl BA, Gross JB, Speiser DI, Oakley TH, Patel NH, Gould DB, Protas ME. PMID: 26462237; PMCID: PMC4604090.
      View in: PubMed   Mentions: 12     Fields:    Translation:AnimalsCells
    38. 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. Alavi MV, Chiang WC, Kroeger H, Yasumura D, Matthes MT, Iwawaki T, LaVail MM, Gould DB, Lin JH. PMID: 26513501; PMCID: PMC4627472.
      View in: PubMed   Mentions: 17     Fields:    Translation:AnimalsCells
    39. Strain-Dependent Anterior Segment Dysgenesis and Progression to Glaucoma in Col4a1 Mutant Mice. Invest Ophthalmol Vis Sci. 2015 Oct; 56(11):6823-31. Mao M, Smith RS, Alavi MV, Marchant JK, Cosma M, Libby RT, John SW, Gould DB. PMID: 26567795; PMCID: PMC4627250.
      View in: PubMed   Mentions: 12     Fields:    Translation:AnimalsCells
    40. In vivo longitudinal assessment of cellular processes using fluorescence reporters. Mitochondrion. 2015 Sep 1; 24:s22-s23. Alavi AM, Gould GD. .
      View in: Publisher Site   Mentions:
    41. 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. Jeanne M, Jorgensen J, Gould DB. PMID: 25753534; PMCID: PMC4497509.
      View in: PubMed   Mentions: 64     Fields:    Translation:AnimalsCells
    42. Allosteric inhibition of the IRE1α RNase preserves cell viability and function during endoplasmic reticulum stress. Cell. 2014 Jul 31; 158(3):534-48. 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. PMID: 25018104; PMCID: PMC4244221.
      View in: PubMed   Mentions: 256     Fields:    Translation:HumansAnimalsCells
    43. Spontaneous development of autoimmune uveitis Is CCR2 dependent. Am J Pathol. 2014 Jun; 184(6):1695-705. Chen YF, Zhou D, Metzger T, Gallup M, Jeanne M, Gould DB, Anderson MS, McNamara NA. PMID: 24736166; PMCID: PMC4044718.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansAnimalsCells
    44. 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. Aikio M, Hurskainen M, Brideau G, Hägg P, Sormunen R, Heljasvaara R, Gould DB, Pihlajaniemi T. PMID: 24135756.
      View in: PubMed   Mentions: 10     Fields:    Translation:Animals
    45. 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. Kuo DS, Labelle-Dumais C, Mao M, Jeanne M, Kauffman WB, Allen J, Favor J, Gould DB. PMID: 24203695; PMCID: PMC3943517.
      View in: PubMed   Mentions: 40     Fields:    Translation:AnimalsCells
    46. COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets. Hum Mol Genet. 2012 Oct 15; 21(R1):R97-110. Kuo DS, Labelle-Dumais C, Gould DB. PMID: 22914737; PMCID: PMC3459649.
      View in: PubMed   Mentions: 143     Fields:    Translation:HumansAnimalsCells
    47. COL4A1 mutations in patients with sporadic late-onset intracerebral hemorrhage. Ann Neurol. 2012 Apr; 71(4):470-7. Weng YC, Sonni A, Labelle-Dumais C, de Leau M, Kauffman WB, Jeanne M, Biffi A, Greenberg SM, Rosand J, Gould DB. PMID: 22522439; PMCID: PMC3335762.
      View in: PubMed   Mentions: 47     Fields:    Translation:HumansCells
    48. COL4A2 mutation associated with familial porencephaly and small-vessel disease. Eur J Hum Genet. 2012 Aug; 20(8):844-51. 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. PMID: 22333902; PMCID: PMC3400734.
      View in: PubMed   Mentions: 45     Fields:    Translation:HumansAnimalsCells
    49. Abstract 3665: COL4A1 and COL4A2 Mutations cause Genetically Modifiable Cerebrovascular Diseases. Stroke. 2012 Feb 1; 43(suppl_1). Jeanne JM, Weng WY, de Leau dM, Labelle-Dumais LC, Kauffman KB, Greenberg GS, Rosand RJ, Gould GD. .
      View in: Publisher Site   Mentions:
    50. COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke. Am J Hum Genet. 2012 Jan 13; 90(1):91-101. Jeanne M, Labelle-Dumais C, Jorgensen J, Kauffman WB, Mancini GM, Favor J, Valant V, Greenberg SM, Rosand J, Gould DB. PMID: 22209247; PMCID: PMC3257894.
      View in: PubMed   Mentions: 101     Fields:    Translation:HumansAnimalsCells
    51. 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. Labelle-Dumais C, Dilworth DJ, Harrington EP, de Leau M, Lyons D, Kabaeva Z, Manzini MC, Dobyns WB, Walsh CA, Michele DE, Gould DB. PMID: 21625620; PMCID: PMC3098190.
      View in: PubMed   Mentions: 60     Fields:    Translation:HumansAnimalsCells
    52. Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1. J Med Genet. 2011 Jun; 48(6):375-82. 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. PMID: 21507892; PMCID: PMC4294942.
      View in: PubMed   Mentions: 32     Fields:    Translation:HumansAnimalsCells
    53. A male with unilateral microphthalmia reveals a role for TMX3 in eye development. PLoS One. 2010 May 11; 5(5):e10565. 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. PMID: 20485507; PMCID: PMC2868029.
      View in: PubMed   Mentions: 20     Fields:    Translation:HumansAnimalsCells
    54. Endoplasmic reticulum stress as a primary pathogenic mechanism leading to age-related macular degeneration. Adv Exp Med Biol. 2010; 664:403-9. Libby RT, Gould DB. PMID: 20238041; PMCID: PMC3068206.
      View in: PubMed   Mentions: 21     Fields:    Translation:HumansAnimalsCells
    55. Abnormal expression of collagen IV in lens activates unfolded protein response resulting in cataract. J Biol Chem. 2009 Dec 18; 284(51):35872-84. Firtina Z, Danysh BP, Bai X, Gould DB, Kobayashi T, Duncan MK. PMID: 19858219; PMCID: PMC2791016.
      View in: PubMed   Mentions: 56     Fields:    Translation:HumansAnimalsCells
    56. Developmental distribution of collagen IV isoforms and relevance to ocular diseases. Matrix Biol. 2009 May; 28(4):194-201. Bai X, Dilworth DJ, Weng YC, Gould DB. PMID: 19275937; PMCID: PMC4749355.
      View in: PubMed   Mentions: 31     Fields:    Translation:HumansAnimalsCells
    57. Mutant COL4A1 triggers oxidative stress in a genetic model of AMD. Matrix Biology. 2008 Dec 1; 27:39. Weng WY, Dilworth DD, Libby LR, John JS, Gould GD. .
      View in: Publisher Site   Mentions:
    58. Clinical and brain MRI follow-up study of a family with COL4A1 mutation. Neurology. 2007 Oct 16; 69(16):1564-8. Vahedi K, Boukobza M, Massin P, Gould DB, Tournier-Lasserve E, Bousser MG. PMID: 17938367.
      View in: PubMed   Mentions: 27     Fields:    Translation:Humans
    59. 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. Lowry RB, Gould DB, Walter MA, Savage PR. PMID: 17486624.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    60. Col4a1 mutation causes endoplasmic reticulum stress and genetically modifiable ocular dysgenesis. Hum Mol Genet. 2007 Apr 01; 16(7):798-807. Gould DB, Marchant JK, Savinova OV, Smith RS, John SW. PMID: 17317786.
      View in: PubMed   Mentions: 67     Fields:    Translation:AnimalsCells
    61. Mutant myocilin nonsecretion in vivo is not sufficient to cause glaucoma. Mol Cell Biol. 2006 Nov; 26(22):8427-36. Gould DB, Reedy M, Wilson LA, Smith RS, Johnson RL, John SW. PMID: 16954374; PMCID: PMC1636791.
      View in: PubMed   Mentions: 49     Fields:    Translation:AnimalsCells
    62. Role of COL4A1 in small-vessel disease and hemorrhagic stroke. N Engl J Med. 2006 Apr 06; 354(14):1489-96. Gould DB, Phalan FC, van Mil SE, Sundberg JP, Vahedi K, Massin P, Bousser MG, Heutink P, Miner JH, Tournier-Lasserve E, John SW. PMID: 16598045.
      View in: PubMed   Mentions: 217     Fields:    Translation:HumansAnimalsCells
    63. Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly. J Med Genet. 2006 Jun; 43(6):490-5. Breedveld G, de Coo IF, Lequin MH, Arts WF, Heutink P, Gould DB, John SW, Oostra B, Mancini GM. PMID: 16107487; PMCID: PMC2593028.
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    64. Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly. Science. 2005 May 20; 308(5725):1167-71. Gould DB, Phalan FC, Breedveld GJ, van Mil SE, Smith RS, Schimenti JC, Aguglia U, van der Knaap MS, Heutink P, John SW. PMID: 15905400.
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    65. 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. Anderson MG, Libby RT, Gould DB, Smith RS, John SW. PMID: 15758074; PMCID: PMC555465.
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    66. Complex genetics of glaucoma susceptibility. Annu Rev Genomics Hum Genet. 2005; 6:15-44. Libby RT, Gould DB, Anderson MG, John SW. PMID: 16124852.
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    67. 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. Gould DB, Walter MA. PMID: 15487006.
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    68. Genetically increasing Myoc expression supports a necessary pathologic role of abnormal proteins in glaucoma. Mol Cell Biol. 2004 Oct; 24(20):9019-25. Gould DB, Miceli-Libby L, Savinova OV, Torrado M, Tomarev SI, Smith RS, John SW. PMID: 15456875; PMCID: PMC517885.
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    69. 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. Gould DB, Jaafar MS, Addison MK, Munier F, Ritch R, MacDonald IM, Walter MA. PMID: 15219231; PMCID: PMC455682.
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    70. Anterior segment development relevant to glaucoma. Int J Dev Biol. 2004; 48(8-9):1015-29. Gould DB, Smith RS, John SW. PMID: 15558492.
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    71. Anterior segment dysgenesis and the developmental glaucomas are complex traits. Hum Mol Genet. 2002 May 15; 11(10):1185-93. Gould DB, John SW. PMID: 12015278.
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    72. Cloning, characterization, localization, and mutational screening of the human BARX1 gene. Genomics. 2000 Sep 15; 68(3):336-42. Gould DB, Walter MA. PMID: 10995576.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansAnimalsCells
    73. Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25. Eur J Hum Genet. 2000 Jan; 8(1):71-4. Mirzayans F, Gould DB, Héon E, Billingsley GD, Cheung JC, Mears AJ, Walter MA. PMID: 10713890.
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    74. Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly. Am J Hum Genet. 1998 Nov; 63(5):1316-28. 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. PMID: 9792859; PMCID: PMC1377542.
      View in: PubMed   Mentions: 110     Fields:    Translation:HumansAnimalsCells
    75. The forkhead/winged helix gene Mf1 is disrupted in the pleiotropic mouse mutation congenital hydrocephalus. Cell. 1998 Jun 12; 93(6):985-96. Kume T, Deng KY, Winfrey V, Gould DB, Walter MA, Hogan BL. PMID: 9635428.
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    76. Autosomal dominant Axenfeld-Rieger anomaly maps to 6p25. Am J Hum Genet. 1997 Sep; 61(3):765-8. Gould DB, Mears AJ, Pearce WG, Walter MA. PMID: 9326342; PMCID: PMC1715932.
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    77. Autosomal Dominant Axenfeld-Rieger Anomaly Maps to 6p25. The American Journal of Human Genetics. 1997 Sep 1; 61(3):765-768. GOULD GD, PEARCE PW, WALTER WM. .
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    78. Autosomal dominant iridogoniodysgenesis anomaly maps to 6p25. Am J Hum Genet. 1996 Dec; 59(6):1321-7. Mears AJ, Mirzayans F, Gould DB, Pearce WG, Walter MA. PMID: 8940278; PMCID: PMC1914875.
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