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
Collagen Type IV Variants and Kidney Cysts: Decoding the COL4A Puzzle.
Rigato M et al.
Genes, 2025
Microglial activation without peripheral immune cell infiltration characterises mouse and human cerebral small vessel disease.
Deshpande T et al.
Neuropathology and Applied Neurobiology, 2024
Pathophysiology of cerebral small vessel disease: a journey through recent discoveries.
Dupré N et al.
The Journal of Clinical Investigation, 2024
Missense Variants in COL4A1/2 Are Associated with Cerebral Aneurysms: A Case Report and Literature Review.
Uemura M et al.
Neurology International, 2024
Arteriolar neuropathology in cerebral microvascular disease.
Fang C et al.
Neuropathology and Applied Neurobiology, 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
FKRP directed fibronectin glycosylation: A novel mechanism giving insights into muscular dystrophies?
Boyd A et al.
Bioessays : News and Reviews in Molecular, Cellular and Developmental Biology, 2022
Beyond the Brain: Systematic Review of Extracerebral Phenotypes Associated With Monogenic Cerebral Small Vessel Disease.
Rannikmäe K et al.
Stroke, 2020
Cerebral small vessel disease with hemorrhagic stroke related to COL4A1 mutation: A case report.
Nandeesh BN et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2020
Type IV Collagen Is Essential for Proper Function of Integrin-Mediated Adhesion in Drosophila Muscle Fibers.
Kiss AA et al.
International Journal of Molecular Sciences, 2019
COL4A1 Mutations Cause Neuromuscular Disease with Tissue-Specific Mechanistic Heterogeneity.
Labelle-Dumais C et al.
American Journal of Human Genetics, 2019
4-Sodium phenyl butyric acid has both efficacy and counter-indicative effects in the treatment of Col4a1 disease.
Jones FE et al.
Human Molecular Genetics, 2019
Neonatal stroke and haematuria: Answers.
Kellett S et al.
Pediatric Nephrology (berlin, Germany), 2018
Severity of arterial defects in the retina correlates with the burden of intracerebral haemorrhage in COL4A1-related stroke.
Ratelade J et al.
The Journal of Pathology, 2018
Basement Membrane Defects in Genetic Kidney Diseases.
Chew C et al.
Frontiers in Pediatrics, 2018
Col4a1 mutation generates vascular abnormalities correlated with neuronal damage in a mouse model of HANAC syndrome.
Trouillet A et al.
Neurobiology of Disease, 2017
HANAC Col4a1 Mutation in Mice Leads to Skeletal Muscle Alterations due to a Primary Vascular Defect.
Guiraud S et al.
The American Journal of Pathology, 2017
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
Altered stress fibers and integrin expression in the Malpighian epithelium of Drosophila type IV collagen mutants.
Kiss AA et al.
Data in Brief, 2016
HANAC Syndrome Col4a1 Mutation Causes Neonate Glomerular Hyperpermeability and Adult Glomerulocystic Kidney Disease.
Chen Z et al.
Journal of the American Society of Nephrology : Jasn, 2016
The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.
Meuwissen ME et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets.
Kuo DS et al.
Human Molecular Genetics, 2012
COL4A1 mutations in patients with sporadic late-onset intracerebral hemorrhage.
Weng YC et al.
Annals of Neurology, 2012
Novel COL4A1 mutations associated with HANAC syndrome: a role for the triple helical CB3[IV] domain.
Plaisier E et al.
American Journal of Medical Genetics. Part A, 2010
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome.
Alamowitch S et al.
Neurology, 2009
COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps.
Plaisier E et al.
The New England Journal of Medicine, 2007
Prenatal Diagnosis of COL4A1 Mutations in Eight Cases: Further Delineation of the Neurohistopathological Phenotype.
Gubana F et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0