Associated Papers
Collagen IV in Gould syndrome and Alport syndrome.
Massoudi D et al.
Nature Reviews. Nephrology, 2025
The pathogenesis of cerebral small vessel disease and vascular cognitive impairment.
Markus HS et al.
Physiological Reviews, 2025
Skeletal pathology in mouse models of Gould syndrome is partially alleviated by genetically reducing TGFβ signaling.
Labelle-Dumais C et al.
Matrix Biology : Journal of the International Society for Matrix Biology, 2024
Pathophysiology of cerebral small vessel disease: a journey through recent discoveries.
Dupré N et al.
The Journal of Clinical Investigation, 2024
Impaired intracellular Ca2+ signaling contributes to age-related cerebral small vessel disease in Col4a1 mutant mice.
Yamasaki E et al.
Science Signaling, 2023
En route towards a personalized medicine approach: Innovative therapeutic modalities for connective tissue disorders.
Redhead C et al.
Matrix Biology : Journal of the International Society for Matrix Biology, 2023
PI3K block restores age-dependent neurovascular coupling defects associated with cerebral small vessel disease.
Thakore P et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
PI3K block restores age-dependent neurovascular coupling defects associated with cerebral small vessel disease.
Thakore P et al.
Biorxiv : the Preprint Server for Biology, 2023
Faulty TRPM4 channels underlie age-dependent cerebral vascular dysfunction in Gould syndrome.
Yamasaki E et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
Elevated TGFβ signaling contributes to cerebral small vessel disease in mouse models of Gould syndrome.
Branyan K et al.
Matrix Biology : Journal of the International Society for Matrix Biology, 2023
Elevated TGFβ signaling contributes to ocular anterior segment dysgenesis in Col4a1 mutant mice.
Mao M et al.
Matrix Biology : Journal of the International Society for Matrix Biology, 2022
Identification of fibronectin 1 as a candidate genetic modifier in a Col4a1 mutant mouse model of Gould syndrome.
Mao M et al.
Disease Models & Mechanisms, 2021
COL4A1 Mutations Cause Neuromuscular Disease with Tissue-Specific Mechanistic Heterogeneity.
Labelle-Dumais C et al.
American Journal of Human Genetics, 2019
Genotype-phenotype correlations in pathology caused by collagen type IV alpha 1 and 2 mutations.
Jeanne M et al.
Matrix Biology : Journal of the International Society for Matrix Biology, 2017
Type IV collagen drives alveolar epithelial-endothelial association and the morphogenetic movements of septation.
Loscertales M et al.
Bmc Biology, 2016
Col4a1 mutations cause progressive retinal neovascular defects and retinopathy.
Alavi MV et al.
Scientific Reports, 2016
Molecular and Genetic Analyses of Collagen Type IV Mutant Mouse Models of Spontaneous Intracerebral Hemorrhage Identify Mechanisms for Stroke Prevention.
Jeanne M et al.
Circulation, 2015
Allelic heterogeneity contributes to variability in ocular dysgenesis, myopathy and brain malformations caused by Col4a1 and Col4a2 mutations.
Kuo DS et al.
Human Molecular Genetics, 2014
COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets.
Kuo DS et al.
Human Molecular Genetics, 2012
Type IV procollagen missense mutations associated with defects of the eye, vascular stability, the brain, kidney function and embryonic or postnatal viability in the mouse, Mus musculus: an extension of the Col4a1 allelic series and the identification of the first two Col4a2 mutant alleles.
Favor J et al.
Genetics, 2007