Mutation analysis of the genes associated with anterior segment dysgenesis, microcornea and microphthalmia in 257 patients with glaucoma.
Guangzhou, China. In Int J Mol Med, 24 Sep 2015
Of the 27, 6 were identified in BEST1, 4 in EYA1, 3 in GDF6, 2 in BMP4, 2 in CRYBA4, 2 in HCCS, and 1 in each of CRYAA, CRYGC, CRYGD, COL4A1, FOXC1, GJA8, PITX2 and SHH.
Case of Small Vessel Disease Associated with COL4A1 Mutations following Trauma.
Cincinnati, United States. In Case Rep Neurol, May 2015
UNASSIGNED: With this case report, we would like to heighten the awareness of clinicians about COL4A1 as a single-gene disorder causing cerebral small vessel disease and describe a previously unreported pathogenic missense substitution in COL4A1 (p.Gly990Val) and a new clinical presentation.
Genetics of cerebral small vessel disease.
Cheju, South Korea. In J Stroke, Jan 2015
These include cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy, COL4A1-related cerebral SVD, autosomal dominant retinal vasculopathy with cerebral leukodystrophy, and Fabry disease.
Association of genetic variants with diabetic nephropathy.
Lucknow, India. In World J Diabetes, Jan 2015
The risk of developing diabetic nephropathy is increased several times by inheriting risk alleles at susceptibility loci of various genes like ACE, IL, TNF-α, COL4A1, eNOS, SOD2, APOE, GLUT, etc.
Molecular basis of young ischemic stroke.
Milano, Italy. In Curr Med Chem, 2012
This article reviews the existing literature on the most investigated monogenic disorders (CADASIL, Fabry disease, MELAS, RVCL, COL4A1, Marfan and Ehlers-Danlos syndromes) causing stroke in young and a number of candidate genes associated with stroke occurring in patients younger than 50 years.
Childhood presentation of COL4A1 mutations.
Bristol, United Kingdom. In Dev Med Child Neurol, 2012
COL4A1 mutations can present in children with infantile hemiplegia/quadriplegia, stroke or epilepsy, and a motor disorder.
Role of COL4A1 in small-vessel disease and hemorrhagic stroke.
Bar Harbor, United States. In N Engl J Med, 2006
Identified a COL4A1 mutation in a human family with small-vessel disease. Mutation of COL4A1 may cause a spectrum of cerebrovascular phenotypes and that persons with COL4A1 mutations may be predisposed to hemorrhage.