Cassandre Labelle-Dumais, PhD
Associate Researcher
Ophthalmology
School of Medicine

Publications (32)

Top publication keywords:
MutationReceptors, Cytoplasmic and NuclearBasement MembraneGastrulaCollagen Type IVEyeNeuromuscular DiseasesTransforming Growth Factor betaWalker-Warburg SyndromeCerebral Small Vessel DiseasesIntraocular PressureMuscular DiseasesSerine ProteasesDisease SusceptibilityTRPM Cation Channels

• PRSS56 acts as an intrinsic retinal signal driving postnatal ocular axial growth and myopia susceptibility.
  bioRxiv : the preprint server for biology 2026 Gangappa K, Duraikannu D, Advani J, Labelle-Dumais C, Uludag EB, Singh N, Koli S, Jiang C, Kuo YM, Ishikawa Y, Choquet H, Swaroop A, Nair KS
• Multimodal neuroimaging of Col4a1-mutant mouse models of Gould syndrome.
  Frontiers in neuroscience 2025 Gao X, Wang X, Labelle-Dumais C, Gould DB, Chaumeil MM
• A multifunction murine Col4a1 allele reveals potential gene therapy parameters for Gould syndrome.
  The Journal of cell biology 2025 Mao M, Ishikawa Y, Labelle-Dumais C, Wang X, Kuo YM, Gaffney UB, Smith ME, Abdala CN, Lebedev MD, Paradee WJ, Gould DB
• Skeletal pathology in mouse models of Gould syndrome is partially alleviated by genetically reducing TGFβ signaling.
  Matrix biology : journal of the International Society for Matrix Biology 2024 Labelle-Dumais C, Mazur C, Kaya S, Obata Y, Lee B, Acevedo C, Alliston T, Gould DB
• TGFβ Signaling Dysregulation May Contribute to COL4A1-Related Glaucomatous Optic Nerve Damage.
  Investigative ophthalmology & visual science 2024 Mao M, Kuo YM, Yu AK, Labelle-Dumais C, Ou Y, Gould DB

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• Impaired intracellular Ca2+ signaling contributes to age-related cerebral small vessel disease in Col4a1 mutant mice.
  Science signaling 2023 Yamasaki E, Thakore P, Ali S, Sanchez Solano A, Wang X, Gao X, Labelle-Dumais C, Chaumeil MM, Gould DB, Earley S
• PI3K block restores age-dependent neurovascular coupling defects associated with cerebral small vessel disease.
  Proceedings of the National Academy of Sciences of the United States of America 2023 Thakore P, Yamasaki E, Ali S, Sanchez Solano A, Labelle-Dumais C, Gao X, Chaumeil MM, Gould DB, Earley S
• PI3K block restores age-dependent neurovascular coupling defects associated with cerebral small vessel disease.
  bioRxiv : the preprint server for biology 2023 Thakore P, Yamasaki E, Ali S, Solano AS, Labelle-Dumais C, Gao X, Chaumeil MM, Gould DB, Earley S
• Faulty TRPM4 channels underlie age-dependent cerebral vascular dysfunction in Gould syndrome.
  Proceedings of the National Academy of Sciences of the United States of America 2023 Yamasaki E, Ali S, Sanchez Solano A, Thakore P, Smith M, Wang X, Labelle-Dumais C, Gould DB, Earley S
• Elevated TGFβ signaling contributes to cerebral small vessel disease in mouse models of Gould syndrome.
  Matrix biology : journal of the International Society for Matrix Biology 2022 Branyan K, Labelle-Dumais C, Wang X, Hayashi G, Lee B, Peltz Z, Gorman S, Li BQ, Mao M, Gould DB
• Elevated TGFβ signaling contributes to ocular anterior segment dysgenesis in Col4a1 mutant mice.
  Matrix biology : journal of the International Society for Matrix Biology 2022 Mao M, Labelle-Dumais C, Tufa SF, Keene DR, Gould DB
• Identification of MFRP and the secreted serine proteases PRSS56 and ADAMTS19 as part of a molecular network involved in ocular growth regulation.
  PLoS genetics 2021 Koli S, Labelle-Dumais C, Zhao Y, Paylakhi S, Nair KS
• Loss of PRSS56 function leads to ocular angle defects and increased susceptibility to high intraocular pressure.
  Disease models & mechanisms 2020 Labelle-Dumais C, Pyatla G, Paylakhi S, Tolman NG, Hameed S, Seymens Y, Dang E, Mandal AK, Senthil S, Khanna RC, Kabra M, Kaur I, John SWM, Chakrabarti S, Nair KS
• COL4A1 Mutations Cause Neuromuscular Disease with Tissue-Specific Mechanistic Heterogeneity.
  American journal of human genetics 2019 Labelle-Dumais C, Schuitema V, Hayashi G, Hoff K, Gong W, Dao DQ, Ullian EM, Oishi P, Margeta M, Gould DB
• Use of sodium 4-phenylbutyrate to define therapeutic parameters for reducing intracerebral hemorrhage and myopathy in Col4a1 mutant mice.
  Disease models & mechanisms 2018 Hayashi G, Labelle-Dumais C, Gould DB
• Müller glia-derived PRSS56 is required to sustain ocular axial growth and prevent refractive error.
  PLoS genetics 2018 Paylakhi S, Labelle-Dumais C, Tolman NG, Sellarole MA, Seymens Y, Saunders J, Lakosha H, deVries WN, Orr AC, Topilko P, John SW, Nair KS
• Type IV Collagens and Basement Membrane Diseases: Cell Biology and Pathogenic Mechanisms.
  Current topics in membranes 2015 Mao M, Alavi MV, Labelle-Dumais C, Gould DB
• Allelic heterogeneity contributes to variability in ocular dysgenesis, myopathy and brain malformations caused by Col4a1 and Col4a2 mutations.
  Human molecular genetics 2013 Kuo DS, Labelle-Dumais C, Mao M, Jeanne M, Kauffman WB, Allen J, Favor J, Gould DB
• COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets.
  Human molecular genetics 2012 Kuo DS, Labelle-Dumais C, Gould DB
• COL4A1 mutations in patients with sporadic late-onset intracerebral hemorrhage.
  Annals of neurology 2012 Weng YC, Sonni A, Labelle-Dumais C, de Leau M, Kauffman WB, Jeanne M, Biffi A, Greenberg SM, Rosand J, Gould DB
• COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke.
  American journal of human genetics 2011 Jeanne M, Labelle-Dumais C, Jorgensen J, Kauffman WB, Mancini GM, Favor J, Valant V, Greenberg SM, Rosand J, Gould DB
• COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans.
  PLoS genetics 2011 Labelle-Dumais C, Dilworth DJ, Harrington EP, de Leau M, Lyons D, Kabaeva Z, Manzini MC, Dobyns WB, Walsh CA, Michele DE, Gould DB
• Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.
  Journal of medical genetics 2011 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, …
• Peri-pubertal emergence of UNC-5 homologue expression by dopamine neurons in rodents.
  PloS one 2010 Manitt C, Labelle-Dumais C, Eng C, Grant A, Mimee A, Stroh T, Flores C
• Post-pubertal emergence of a dopamine phenotype in netrin-1 receptor-deficient mice.
  The European journal of neuroscience 2009 Grant A, Speed Z, Labelle-Dumais C, Flores C
• Altered netrin-1 receptor expression in dopamine terminal regions following neonatal ventral hippocampal lesions in the rat.
  Synapse (New York, N.Y.) 2009 Flores C, Bhardwaj SK, Labelle-Dumais C, Srivastava LK
• Chronic phencyclidine treatment increases dendritic spine density in prefrontal cortex and nucleus accumbens neurons.
  Synapse (New York, N.Y.) 2007 Flores C, Wen X, Labelle-Dumais C, Kolb B
• Netrin-1 receptor-deficient mice show enhanced mesocortical dopamine transmission and blunted behavioural responses to amphetamine.
  The European journal of neuroscience 2007 Grant A, Hoops D, Labelle-Dumais C, Prévost M, Rajabi H, Kolb B, Stewart J, Arvanitogiannis A, Flores C
• Regulation of netrin-1 receptors by amphetamine in the adult brain.
  Neuroscience 2007 Yetnikoff L, Labelle-Dumais C, Flores C
• Impaired progesterone production in Nr5a2+/- mice leads to a reduction in female reproductive function.
  Biology of reproduction 2007 Labelle-Dumais C, Paré JF, Bélanger L, Farookhi R, Dufort D
• Nuclear receptor NR5A2 is required for proper primitive streak morphogenesis.
  Developmental dynamics : an official publication of the American Association of Anatomists 2006 Labelle-Dumais C, Jacob-Wagner M, Paré JF, Bélanger L, Dufort D
• Uterine Wnt/beta-catenin signaling is required for implantation.
  Proceedings of the National Academy of Sciences of the United States of America 2005 Mohamed OA, Jonnaert M, Labelle-Dumais C, Kuroda K, Clarke HJ, Dufort D