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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 28 Aug 2015.

Collagen, type IV, alpha 1

COL4A1, collagen type IV alpha1, Arresten
This gene encodes the major type IV alpha collagen chain of basement membranes. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: Alpha-1, CAN, HAD, AGE, COL1A1
Papers on COL4A1
Mutation analysis of the genes associated with anterior segment dysgenesis, microcornea and microphthalmia in 257 patients with glaucoma.
New
Zhang et al., 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.
Functional interaction between COL4A1/COL4A2 and SMAD3 risk loci for coronary artery disease.
New
McPherson et al., Ottawa, Canada. In Atherosclerosis, 20 Sep 2015
OBJECTIVE: The COL4A1/COL4A2 region on chromosome 13q34 is a highly replicated locus for coronary artery disease (CAD).
Identification of a PEAK1/ZEB1 signaling axis during TGFβ/fibronectin-induced EMT in breast cancer.
New
Kelber et al., Canada. In Biochem Biophys Res Commun, 19 Sep 2015
Analysis of the Cytoscape interactome and Babelomics-derived gene ontologies for a novel gene set including PEAK1, CRK, ZEB1, IL11 and COL4A1 enabled us to hypothesize that PEAK1 may be regulating TGFβ-induced EMT via its interaction with or regulation of these other genes.
HANAC Syndrome Col4a1 Mutation Causes Neonate Glomerular Hyperpermeability and Adult Glomerulocystic Kidney Disease.
New
Plaisier et al., Paris, France. In J Am Soc Nephrol, 10 Sep 2015
UNASSIGNED: Hereditary angiopathy, nephropathy, aneurysms, and muscle cramps (HANAC) syndrome is an autosomal dominant syndrome caused by mutations in COL4A1 that encodes the α1 chain of collagen IV, a major component of basement membranes.
RNA Sequencing Analysis Detection of a Novel Pathway of Endothelial Dysfunction in Pulmonary Arterial Hypertension.
New
Rabinovitch et al., Stanford, United States. In Am J Respir Crit Care Med, 01 Sep 2015
However, knockdown of BMPR2 by siRNA in control pulmonary arterial endothelial cells recapitulated 6 of 10 patient-related gene changes, including decreased collagen IV (COL4A1, COL4A2) and ephrinA1 (EFNA1).
Case of Small Vessel Disease Associated with COL4A1 Mutations following Trauma.
New
Broderick et al., 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.
The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.
Review
New
Mancini et al., Rotterdam, Netherlands. In Genet Med, Mar 2015
UNASSIGNED: Two proα1(IV) chains, encoded by COL4A1, form trimers that contain, in addition, a proα2(IV) chain encoded by COL4A2 and are the major component of the basement membrane in many tissues.
Genetics of cerebral small vessel disease.
Review
New
Choi, 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.
Review
New
Mahdi et al., 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.
Integrated miRNA-mRNA analysis of Epstein-Barr virus-positive nasopharyngeal carcinoma.
New
Wang et al., Beijing, China. In Genet Mol Res, Dec 2014
The interactions between DEGs and the let-7 or miR-29 families appeared strongest in this network, where CDC25A, COL3A1, and COL1A1 were regulated by several let-7 family members, while COL4A1 and COL5A2 were regulated by several miR-29 family members.
Molecular basis of young ischemic stroke.
Review
Candelise et al., 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.
COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets.
Review
Gould et al., San Francisco, United States. In Hum Mol Genet, 2012
Heterotrimers composed of collagen type IV alpha 1 (COL4A1) and alpha 2 (COL4A2) constitute one of the most abundant components of nearly all basement membranes.
COL4A1 mutation in a pediatric patient presenting with post-ictal hemiparesis.
GeneRIF
Sell et al., Ottawa, Canada. In Can J Neurol Sci, 2012
This study demonistrated that COL4A1 missense Mutation in patients with hemiparesis.
Childhood presentation of COL4A1 mutations.
Review
GeneRIF
Jardine et al., 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.
COL4A1 mutations in patients with sporadic late-onset intracerebral hemorrhage.
GeneRIF
Gould et al., San Francisco, United States. In Ann Neurol, 2012
Our data support the hypothesis that increased intracellular accumulation of COL4A1, decreased extracellular COL4A1, or both, contribute to sporadic cerebrovascular disease and sporadic, nonfamilial, intracerebral hemorrhages
Collagen IV and MMP-9 expression in hypertrophic gingiva during orthodontic treatment.
GeneRIF
Camen et al., Craiova, Romania. In Rom J Morphol Embryol, 2011
analysis of collagen IV and MMP-9 expression in hypertrophic gingiva during orthodontic treatment
A new family with autosomal dominant porencephaly with a novel Col4A1 mutation. Are arachnoid cysts related to Col4A1 mutations?
GeneRIF
Ceylaner et al., Ankara, Turkey. In Genet Couns, 2011
Mutations in Col4A1 have been shown to cause porencephaly.
COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps.
Impact
GeneRIF
Ronco et al., Paris, France. In N Engl J Med, 2008
COL4A1 may be a candidate gene in unexplained familial syndromes with autosomal dominant hematuria, cystic kidney disease, intracranial aneurysms, and muscle cramps.
Role of COL4A1 in small-vessel disease and hemorrhagic stroke.
Impact
GeneRIF
John et al., 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.
Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly.
Impact
GeneRIF
John et al., Bar Harbor, United States. In Science, 2005
findings show that COL4A1 mutations segregate with porencephaly in human families; propose that Col4a1 mutations conspire with environmental trauma in causing the disease
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