Selected Publications

 
For a full list of publications, please click here.

Also, see attached list of papers.

COL4A1 Mutations Cause Neuromuscular Disease with Tissue-Specific Mechanistic Heterogeneity.
Labelle-Dumais et al. Am J Hum Genet. 2019 May 2;104(5):847-860. 
https://www.ncbi.nlm.nih.gov/pubmed/31051113
Use of sodium 4-phenylbutyrate to define therapeutic parameters for reducing intracerebral hemorrhage and myopathy in Col4a1 mutant mice
Hayashi et al. Disease models & mechanisms. 2018; 11(7).
http://dmm.biologists.org/lookup/doi/10.1242/dmm.034157
Mutations of conserved non-coding elements of PITX2 in patients with ocular dysgenesis and developmental glaucoma
Protas et al. Hum Mol Genet. 2017 Sep 15;26(18):3630-3638.
http://www.ncbi.nlm.nih.gov/pubmed/28911203
Characterization of a variant of gap junction protein α8 identified in a family with hereditary cataract
Kuo et al. PLoS One. 2017 Aug;12(8):e0183438.
http://www.ncbi.nlm.nih.gov/pubmed/28827829
Genetic dissection of anterior segment dysgenesis caused by a Col4a1 mutation in mouse.
Mao et al. Dis Model Mech. 2017 Apr 1;10(4):475-485.
http://www.ncbi.nlm.nih.gov/pubmed/28237965
Genotype-phenotype correlations in pathology caused by collagen type IV alpha 1 and 2 mutations.
Jeanne et al. Matrix Biol. 2017 Jan;57-58:29-44.
http://www.ncbi.nlm.nih.gov/pubmed/27794444
Small Blood Vessels: Big Health Problems?”: Scientific Recommendations of the National Institures of Health Workshop.
Bosetti et al. J Am Heart Assoc. 2016 Nov 4;5(11)
http://www.ncbi.nlm.nih.gov/pubmed/27815267
Type IV collagen drives alveolar-epithelial association and the morphogenetic movements of septation.
Loscertales et al. BMC Biol. 2016 Jul 13;14:59.
http://www.ncbi.nlm.nih.gov/pubmed/27412481
Col4a1 mutations cause progressive retinal neovascular defects and retinopathy
Alavi et al. Sci Rep. 2016 Jan 27;6:18602.
http://www.ncbi.nlm.nih.gov/pubmed/26813606
Type IV Collagens and Basement Membrane Diseases: Cell Biology and Pathogenic Mechanisms
Mao et al. Curr Top Membr. 2015;76:61-116.Epub 2015 Oct 20.
https://pubmed.ncbi.nlm.nih.gov/26610912/
Strain-Dependent Anterior Segment Dysgenesis and Progression to Glaucoma in Col4a1 Mutant Mice.
Mao et al. Invest Ophthalmol Vis Sci. 2015 Oct;56(11).
http://www.ncbi.nlm.nih.gov/pubmed/26567795
In Vivo Visualization of Endoplasmic Reticulum Stress in the Retina Using the ERAI Reporter Mouse.
Alavi et al. Circulation. 2015;131:1555-1565.
http://www.ncbi.nlm.nih.gov/pubmed/26513501
Molecular and Genetic Analyses of Collagen Type IVMutant Mouse Models of Spontaneous Intracerebral Hemorrhage Identify Mechanisms for Stroke Prevention
Jeanne et al. Circulation. 2015;131:1555-1565.
http://www.ncbi.nlm.nih.gov/pubmed/25753534
Allosteric Inhibition of the IRE1a RNasePreserves Cell Viability and Function during Endoplasmic Reticulum Stress Rajarshi
Ghosh et al. Cell 158, 534–548, July 31, 2014
Allelic heterogeneity contributes to variabilityin ocular dysgenesis, myopathy and brainmalformations caused by Col4a1 and Col4a2mutations
Kuo et al. Human Molecular Genetics, 2014, Vol. 23, No. 7 
http://www.ncbi.nlm.nih.gov/pubmed/24203695
COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets
Kuo et al. Human Molecular Genetics, 2012, Vol. 21, Review Issue 1 
http://www.ncbi.nlm.nih.gov/pubmed/22914737
COL4A1 mutations in patients with sporadic late-onset intracerebral hemorrhage
Weng et al. Ann Neurol. 2012 Apr; 71(4):470-7.
http://www.ncbi.nlm.nih.gov/pubmed/22522439
COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke
Jeanne et al. Am J Hum Genet. 2012 Jan 13;90(1):91-101.
http://www.ncbi.nlm.nih.gov/pubmed/22209247
COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans
Labelle-Dumais et al. PLoS Genet. 2011 May;7(5):e1002062.
http://www.ncbi.nlm.nih.gov/pubmed/21625620
Developmental distribution of collagen IV isoforms and relevance to ocular diseases
Bai et al. Matrix Biol. 2009 May;28(4):194-201.
http://www.ncbi.nlm.nih.gov/pubmed/19275937
Col4a1 mutation causes endoplasmic reticulum stress and genetically modifiable ocular dysgenesis
Gould et al. Hum Mol Genet. 2007 Apr 1;16(7):798-807.
http://www.ncbi.nlm.nih.gov/pubmed/17317786
Role of COL4A1 in small-vessel disease and hemorrhagic stroke
Gould et al. N Engl J Med. 2006 Apr 6;354(14):1489-96.
http://www.ncbi.nlm.nih.gov/pubmed/16598045
Mutations in Col4a1 Cause Perinatal Cerebral Hemorrhage and Porencephaly
Gould et al. Science. 2005 May 20;308(5725):1167-71.
http://www.ncbi.nlm.nih.gov/pubmed/15905400

 

2015

Labelle-Dumais, C., Mao, M., Schcuitema, V., Popli, T., Hoff, K., Jeanne, M., Sen, S., Gould, D.B.. Genetic Approaches and Pathogenic Mechanisms in a Mouse Model of Muscle–Eye–Brain Disease. MDA Scientific Conference, Washington, DC. 2015.

Labelle-Dumais, C., Mao, M., Schcuitema, V., Popli, T., Hoff, K., Jeanne, M., Sen, S., Gould, D.B.. Mechanistic Heterogeneity and Mechanism-Based Therapy for COL4A1 Mutations.
Gordon Research Conference: Collagen., New London, NH. 2015.

Mao, M., Jeanne, M., Popli, T., Hoff, K., Sen, S., Gould, D.B.. Identification of a genetic modifier underlying COL4A1-related anterior segment dysgenesis in mice. Association for Research in Vision and Ophthalmology annual meeting. Denver, CO (2015).
 

2014

Jeanne, M., Jorgensen J. and Gould D.B. Preventive and therapeutic approaches to reduce severity of hemorrhagic stroke caused by Col4a1 mutation.
Biennial Meeting of The American Society for Matrix Biology, Cleveland, OH. 2014.

Alavi, M.V. and Gould, D.B. Retinal vascular lesions associated with mutations in Col4a1. Poster, Annual meeting of the American Society for Human Genetics (ASHG).

Alavi, M.V. and Gould, D.B. Mutations in Col4a1 cause retinal vascular lesions. Presentation, Biennial Meeting of the International Society for Eye Research (ISER).

Alavi, M.V., Chiang, W.C., Kroeger, H., Yasumura, D., Matthes, M.T., LaVail, M.M., Gould, D.B., and Lin. J.H. Aging of the Retina Involves Elevated IRE1 Signaling and ER Stress Levels. Poster, XVIth International Symposium on Retinal Degeneration (RD2014).

Alavi, M.V., Chiang, W.C., Kroeger, H., Yasumura, D., Matthes, M.T., LaVail, M.M., Gould, D.B., and Lin, J.H. IRE1 Signaling and ER Stress Levels Increase With Age in Retina. Presentation, Annual meeting of the Association for Research in Vision and Ophthalmology (ARVO).

Mao, M. and Gould, D.B. Genetically dissecting the primary site of pathogenesis in COL4A1 mediated anterior segment dysgenesis.  Poster presentation, International Society of Eye Research Meeting. San Francisco, CA. 2014.

Jeanne, M., Labelle-Dumais, C., Kuo, D., Mao, M., Jorgensen, J., Kauffman, B., and Gould, D.B. Mechanistic Heterogeneity in Multi-System Disorders Caused By COL4A1 and COL4A2 Mutations. Biennial Meeting of The American Society for Matrix Biology, Cleveland, OH. 2014.

 

2013

FASEB Science Research Conference, Saxtons River, VT.“Col4a1 and Col4a2 mutations cause cerebro-retinal angiopathy and genetically modifiable hemorrhagic stroke.
Jeanne M., Jorgensen J. and Gould D.B.

Gordon Research Conference: Collagen. New London, NH. “Allelic heterogeneity contributes to variability in ocular dysgenesis, myopathy, and brain malformations caused by Col4a1 and Col4a2 mutations.” Kuo, D.S., Labelle-Dumais, C., Mao, M., Jeanne, M., Kauffman, W.B., Allen, J., Favor, J., and Gould, D.B.

Gordon Research Conference – Angiogenesis (Newport, RI) Poster “Col4a1 and Col4a2 mutations cause cerebro-retinal angiopathy and genetically modifiable hemorrhagic stroke”  Jeanne M., Jorgensen J., Gould D.B.

Midwest Eye Research Symposium. Poster “Genetically dissecting the primary site(s) of pathogenesis in COL4A1 related ocular dysgenesis.”   Mao M., Jeanne M., Gould D.B.

FASEB Science Research Conference – Matricellular Proteins in Development, Health, and Disease (Saxtons River,VT) Poster “Col4a1 and Col4a2 mutations cause cerebro-retinal angiopathy and genetically modifiable hemorrhagic stroke”   Jeanne M., Jorgensen J., Gould D.B.

Collagen Gordon Research Conference (Colby Sawyer College) Poster “Allelic Heterogeneity Contributes to Variability in Ocular Dysgenesis, Myopathy, and Brain Malformations Caused by Col4a1 and Col4a2 Mutations”   Kuo D.S., Labelle-Dumais C., Mao M., Jeanne M., Kauffman W.B., Allen J., Favor J., Gould D.B.

Muscular Dystrophy Association National Scientific Meeting (Washington DC) Poster “Allelic heterogeneity contributes to variable myopathy caused by mutations in type IV collagen”   Labelle-Dumais C., Kuo D.S., Popli T., Kauffman W.B., Jeanne M., Mao M., Jorgensen J., Gould D.B.

The association for research in Vision and Ophthalmology (ARVO, Seattle, WA) annual meeting Poster “Genetically dissecting the primary site(s) of pathogenesis in COL4A1 related ocular dysgenesis.”   Mao M., Jeanne M., Gould D.B.

The association for research in Vision and Ophthalmology (ARVO, Seattle, WA) annual meeting Poster “Allelic heterogeneity contributes to variability in ocular dysgenesis, myopathy, and cerebral cortical malformations caused by Col4a1 and Col4a2 mutations”   Kuo D.S., Labelle-Dumais C., Mao M., Jeanne M., Kauffman W.B., Allen J., Favor J., Gould D.B.

Alberta Children’s Hospital Research Institute for Child and Maternal Health Annual Research Symposium (Calgary, AB, Canada) Invited speaker “Basement Membrane Collagens in Cerebral Angiogenesis and Stroke”   Gould D.B.

 

2012

International Stroke Conference (New Orleans, LA) Invited Speaker “Mutations in Type IV Collagens Cause Familial and Sporadic Cerebrovascular Disease.”   Gould D.B.

International Stroke Conference (New Orleans, LA) Poster “COL4A1 and COL4A2 mutations cause genetically modifiable cerebrovascular diseases.”   Jeanne M., Weng Y.C., Labelle-Dumais C., Jorgensen J., de Leau M., Kauffman W.B., Greenberg S.M., Rosand J., Gould D.B.

Association for Research in Vision and Ophthalmology (Fort Lauderdale, FL) Invited Speaker “Using Genetic Approaches to Understand The Contribution of COL4A1 To Ocular Development and Disease.”   Gould D.B.

Association for Research in Vision and Ophthalmology (Fort Lauderdale, FL) Poster “Allelic influence of Col4a1 and Col4a2 in anterior segment dysgenesis in mice.”
Mao M., Kuo D.S., Labelle-Dumais C., Jeanne M., Favor J., Gould D.B.

XX Biennial Meeting of the International Society for Eye Research (Berlin, Germany) Poster “Allelic heterogeneity contributes to ocular dysgenesis variability associated with Col4a1 and Col4a2 mutations.”   Labelle–Dumais, C., Kuo D.S., Mao M., Jeanne M., Favor J., Gould D.B.

International Society for Matrix Biology (Katowice, Poland) Selected speaker and ISMB award winner “COL4A1 and COL4A2 mutations cause abnormal angiogenesis and genetically modifiable Cerebrovascular Diseases.” Jeanne M., Jorgensen J., Labelle-Dumais C., Weng Y.C., Kauffman W.B., de Leau M., Greenberg S.M., Rosand J., Favor J., Gould D.B.

American Society for Human Genetics (San Francisco, CA) Poster “Allelic heterogeneity contributes to variable ocular dysgenesis caused by Col4a1 and Col4a2 mutations in mice.”   Mao M., Kuo D.S., Labelle-Dumais C., Jeanne M., Favor J., Gould D.B.

American Society for Human Genetics (San Francisco, CA) Poster “COL4A1 and COL4A2 mutations cause genetically modifiable hemorrhagic stroke.”   Jeanne M., Jorgensen J., Labelle-Dumais C., Weng Y.C., Kauffman W.B., de Leau M., Greenberg S.M., Rosand J., Favor J., Gould D.B.

Biennial Meeting of the American Society for Matrix Biology (San Diego, CA) Selected speaker and ASMB award winner “COL4A1 and COL4A2 mutations cause abnormal angiogenesis and genetically modifiable cerebrovascular diseases.”   Jeanne M., Jorgensen J., Labelle-Dumais C., Weng Y.C., Kauffman W.B., de Leau M., Greenberg S.M., Rosand J., Favor J., Gould D.B.

Biennial Meeting of the American Society for Matrix Biology (San Diego, CA) Poster “Allelic Differences Contribute to Variation in Ocular Dysgenesis, Myopathy and Neuronal Lamination Defects Caused by Col4a1 and Col4a2 Mutations.”   Kuo D.S., Labelle-Dumais C., Mao M., Jeanne M., Kauffman W.B., Allen J., Favor J., Gould D.B.

CardioVascular Research Institute – UCSF retreat (Santa Cruz, CA) Poster “Genetic context influences the severity of vascular disease caused by Col4a1 mutations.”   Jorgensen J., Jeanne M., Gould D.B.

CardioVascular Research Institute – UCSF retreat (Santa Cruz, CA) Poster “Defining the spatial and temporal boundaries of COL4A1 pathogenesis: implications for therapy.”   Jeanne M., Jorgensen J., Labelle-Dumais C., Kauffman W.B., Favor J., Gould D.B.

 

2011

International Society for Ocular Cell Biology (Vancouver, BC.) Invited Speaker “Cellular Consequences and Ocular Pathology in Col4a1 Mutations.”   Gould D.B.

CardioVascular Research Institute – UCSF retreat (Santa Cruz, CA) Selected speaker “COL4A1 and COL4A2 mutations cause genetically modifiable Cerebrovascular Diseases.”   Jeanne M., Weng Y.C., de Leau M., Labelle–Dumais C., Jorgensen J., Kauffman W.B., Greenberg S.M., Rosand J. and Gould D.B.

 

2010

XIV International Symposium on Retinal Degeneration (Mont Tremblant, QC, Canada) Poster “Using An Allelic Series to Understand the Cellular Mechanisms of Retinal Degeneration in Col4a1 Mutant Mice.”   Kuo D., Weng Y.C., and Gould D.B.

XIX Biennial Meeting of the International Society for Eye Research (Montreal, QC, Canada) Poster “Determination of the Pathogenic Mechanism(s) Underlying Ocular Dysgenesis Associated with COL4A1 Mutations.”   Labelle–Dumais C., Dilworth D. J., Harrington E., de Leau M., Lyons E., Michele D.E. and Gould D.B.

Symposium on Basement Membranes in Tissue Development and Regeneration (Nashville, TN) Oral Presentation “Col4a1 causes ocular dysgenesis, cerebral cortical lamination defects and myopathy in mice and Walker–Warburg Syndrome in humans.”   Gould D.B.

CardioVascular Research Institute – UCSF retreat (Tomales Bay, CA) Poster “Determination of the pathogenic mechanisms underlying cerebrovascular diseases associated with COL4A1 mutations”   Jeanne M., Weng Y.C., de Leau M., Labelle–Dumais C., and Gould D.B.