
Doug Gould, PhD is a Professor of Ophthalmology and Anatomy and a member of the Institute for Human Genetics. He obtained a Bachelor of Science with Specialization in Genetics from the University of Alberta in Edmonton followed by a PhD in Medical Genetics in the lab of Dr. Michael Walter. During his PhD, Dr. Gould studied the genetics of ocular anterior segment dysgenesis including the mapping and mutation screening of FOXC1 in patients with ocular dysgenesis.
Dr. Gould did his postdoctoral work wit Dr. Simon John at The Jackson Laboratory in Bar Harbor. While still pursuing study of the genetics on ocular dysgenesis and glaucoma, Dr. Gould identified the first mammalian mutations in type IV collagen alpha 1 (COL4A1). In 2006 he joined the UCSF faculty where his lab studies the cellular mechanisms by which extracellular matrix components contribute to development and disease.
Publications
Collagen IV in Gould syndrome and Alport syndrome.
COL4A1 and COL4A2-related disorders: Clinical features, diagnostic guidelines, and management.
A multifunction murine Col4a1 allele reveals potential gene therapy parameters for Gould syndrome.
Skeletal pathology in mouse models of Gould syndrome is partially alleviated by genetically reducing TGFβ signaling.
Evaluating neural crest cell migration in a Col4a1 mutant mouse model of ocular anterior segment dysgenesis.
TGFß Signaling Dysregulation May Contribute to COL4A1-Related Glaucomatous Optic Nerve Damage.
Tracking the role of Aire in immune tolerance to the eye with a TCR transgenic mouse model.
Impaired intracellular Ca2+ signaling contributes to age-related cerebral small vessel disease in Col4a1 mutant mice.
Local Net Charge State of Collagen Triple Helix Is a Determinant of FKBP22 Binding to Collagen III.
PI3K block restores age-dependent neurovascular coupling defects associated with cerebral small vessel disease.
Long-term effects of restriction of intravenous fluid in adult ICU patients with septic shock.
Deletion of the Unfolded Protein Response Transducer IRE1α Is Detrimental to Aging Photoreceptors and to ER Stress-Mediated Retinal Degeneration.
PI3K block restores age-dependent neurovascular coupling defects associated with cerebral small vessel disease.
Faulty TRPM4 channels underlie age-dependent cerebral vascular dysfunction in Gould syndrome.
Elevated TGFβ signaling contributes to cerebral small vessel disease in mouse models of Gould syndrome.
Lysyl hydroxylase 3-mediated post-translational modifications are required for proper biosynthesis of collagen α1α1α2(IV).
Elevated TGFβ signaling contributes to ocular anterior segment dysgenesis in Col4a1 mutant mice.
Autoantigen specific T-cell receptor induces organ-specific autoimmunity by escaping T cell negative selection.
Development of uveitis in a mouse model of spontaneous autoimmunity correlates with frequency of autoantigen-specific regulatory T cells.
COL4A1/COL4A2 and inherited platelet disorder gene variants in fetuses showing intracranial hemorrhage.
Epilepsy and related challenges in children with COL4A1 and COL4A2 mutations: A Gould syndrome patient registry.
Correlation of autoantigen-specific Treg frequency with development of spontaneous organ-specific autoimmunity in a mouse model of uveitis.
T-cell receptor repertoire of mice with organ-specific autoimmunity resulting from a partial defect in T cell negative selection and dendritic cell enhancement.
Identification of fibronectin 1 as a candidate genetic modifier in a Col4a1 mutant mouse model of Gould syndrome.
Type I and type V procollagen triple helix uses different subsets of the molecular ensemble for lysine posttranslational modifications in the rER.
The novel missense mutation Met48Lys in FKBP22 changes its structure and functions.
COL4A1 Mutations Cause Neuromuscular Disease with Tissue-Specific Mechanistic Heterogeneity.
Use of sodium 4-phenylbutyrate to define therapeutic parameters for reducing intracerebral hemorrhage and myopathy in Col4a1 mutant mice.
Assessing the impact of the Graduate Certificate in Anatomical Sciences Instruction: A post-degree survey.
Mutations of conserved non-coding elements of PITX2 in patients with ocular dysgenesis and developmental glaucoma.
Genetic dissection of anterior segment dysgenesis caused by a Col4a1 mutation in mouse.
"Small Blood Vessels: Big Health Problems?": Scientific Recommendations of the National Institutes of Health Workshop.
Genotype-phenotype correlations in pathology caused by collagen type IV alpha 1 and 2 mutations.
LYN- and AIRE-mediated tolerance checkpoint defects synergize to trigger organ-specific autoimmunity.
Triggering of organ-specific autoimmunity through synergy of defects in key tolerance checkpoints.
Type IV Collagens and Basement Membrane Diseases: Cell Biology and Pathogenic Mechanisms.
In Vivo Visualization of Endoplasmic Reticulum Stress in the Retina Using the ERAI Reporter Mouse.
Strain-Dependent Anterior Segment Dysgenesis and Progression to Glaucoma in Col4a1 Mutant Mice.
Spontaneous development of autoimmune uveitis Is CCR2 dependent.
Collagen XVIII short isoform is critical for retinal vascularization, and overexpression of the Tsp-1 domain affects eye growth and cataract formation.
Allelic heterogeneity contributes to variability in ocular dysgenesis, myopathy and brain malformations caused by Col4a1 and Col4a2 mutations.
COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets.
COL4A1 mutations in patients with sporadic late-onset intracerebral hemorrhage.
COL4A2 mutation associated with familial porencephaly and small-vessel disease.
Abstract 3665: COL4A1 and COL4A2 Mutations cause Genetically Modifiable Cerebrovascular Diseases.
COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke.
Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.
Endoplasmic reticulum stress as a primary pathogenic mechanism leading to age-related macular degeneration.
Abnormal expression of collagen IV in lens activates unfolded protein response resulting in cataract.
Developmental distribution of collagen IV isoforms and relevance to ocular diseases.
Absence of PITX2, BARX1, and FOXC1 mutations in De Hauwere syndrome (Axenfeld-Rieger anomaly, hydrocephaly, hearing loss): a 25-year follow up.
Col4a1 mutation causes endoplasmic reticulum stress and genetically modifiable ocular dysgenesis.
Mutant myocilin nonsecretion in vivo is not sufficient to cause glaucoma.
Role of COL4A1 in small-vessel disease and hemorrhagic stroke.
Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly.
Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly.
High-dose radiation with bone marrow transfer prevents neurodegeneration in an inherited glaucoma.
Complex genetics of glaucoma susceptibility.
Mutational analysis of BARHL1 and BARX1 in three new patients with Joubert syndrome.
Genetically increasing Myoc expression supports a necessary pathologic role of abnormal proteins in glaucoma.
Phenotypic and molecular assessment of seven patients with 6p25 deletion syndrome: relevance to ocular dysgenesis and hearing impairment.
Anterior segment development relevant to glaucoma.
Anterior segment dysgenesis and the developmental glaucomas are complex traits.
Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25.
Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly.
Autosomal Dominant Axenfeld-Rieger Anomaly Maps to 6p25.
Autosomal dominant Axenfeld-Rieger anomaly maps to 6p25.
Autosomal dominant iridogoniodysgenesis anomaly maps to 6p25.
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