Associated Papers
Zebrafish col4a1 loss-of-function models mirror key neurovascular and ocular features of COL4A1/A2 syndrome and enable human variants assessment in vivo.
Paradisi G et al.
Matrix Biology : Journal of the International Society for Matrix Biology, 2026
Loss of col4a1 in zebrafish recapitulates the cerebrovascular phenotypes associated with monogenic cerebral small vessel disease.
Flatman D et al.
Matrix Biology : Journal of the International Society for Matrix Biology, 2025
Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review.
Wilson YA et al.
Journal of Child Neurology, 2024
Collagen IV deficiency causes hypertrophic remodeling and endothelium-dependent hyperpolarization in small vessel disease with intracerebral hemorrhage.
McNeilly S et al.
Ebiomedicine, 2024
Missense Variants in COL4A1/2 Are Associated with Cerebral Aneurysms: A Case Report and Literature Review.
Uemura M et al.
Neurology International, 2024
A novel human iPSC model of COL4A1/A2 small vessel disease unveils a key pathogenic role of matrix metalloproteinases.
Al-Thani M et al.
Stem Cell Reports, 2023
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
The NESHIE and CP Genetics Resource (NCGR): A database of genes and variants reported in neonatal encephalopathy with suspected hypoxic ischemic encephalopathy (NESHIE) and consequential cerebral palsy (CP).
Holborn MA et al.
Genomics, 2022
Systematic Review of Cerebral Phenotypes Associated With Monogenic Cerebral Small-Vessel Disease.
Whittaker E et al.
Journal of the American Heart Association, 2022
Genetic testing in individuals with cerebral palsy.
May HJ et al.
Developmental Medicine and Child Neurology, 2021
Prenatal clinical manifestations in individuals with COL4A1/2 variants.
Itai T et al.
Journal of Medical Genetics, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
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
p.Gly743Val Mutation in COL4A1 Is Responsible for Familial Porencephaly and Severe Hypermetropia.
Scoppettuolo P et al.
Frontiers in Neurology, 2020
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Association of variants in HTRA1 and NOTCH3 with MRI-defined extremes of cerebral small vessel disease in older subjects.
Mishra A et al.
Brain : a Journal of Neurology, 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
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
Variants of anterior segment dysgenesis and cerebral involvement in a large family with a novel COL4A1 mutation.
Rødahl E et al.
American Journal of Ophthalmology, 2013
COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets.
Kuo DS et al.
Human Molecular Genetics, 2012
Childhood presentation of COL4A1 mutations.
Shah S et al.
Developmental Medicine and Child Neurology, 2012
COL4A1 mutations in patients with sporadic late-onset intracerebral hemorrhage.
Weng YC et al.
Annals of Neurology, 2012
Genetics of anterior segment dysgenesis disorders.
Reis LM et al.
Current Opinion in Ophthalmology, 2011
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
Ophthalmological features associated with COL4A1 mutations.
Coupry I et al.
Archives of Ophthalmology (chicago, Ill. : 1960), 2010
A dominantly inherited mutation in collagen IV A1 (COL4A1) causing childhood onset stroke without porencephaly.
Shah S et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2010
Role of COL4A1 in basement-membrane integrity and cerebral small-vessel disease. The COL4A1 stroke syndrome.
Volonghi I et al.
Current Medicinal Chemistry, 2010
Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome.
Alamowitch S et al.
Neurology, 2009