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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 14 Apr 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, HAD, CAN, AGE, COL1A1
Papers on COL4A1
Downregulation of the DNA repair enzyme apurinic/apyrimidinic endonuclease 1 stimulates transforming growth factor-beta1 production and promotes actin rearrangement.
Inanami et al., Sapporo, Japan. In Biochem Biophys Res Commun, 06 May 2015
When the expression of six ECM-related genes (TGFB1, LAMC1, FN1, COL1A1, COL3A1, and COL4A1) was evaluated, we found that APE1 knockdown upregulated the expression of TGFB1 in both cell lines.
Extracellular matrix remodeling and its contribution to protective adaptation following lengthening contractions in human muscle.
Parcell et al., Provo, United States. In Faseb J, 25 Apr 2015
Expression of collagen I, III, and IV (COL1A1, COL3A1, COL4A1) transcripts was unchanged early but increased 5.7 ± 2.5-, 3.2 ± 0.9-, and 2.1 ± 0.4-fold (P < 0.05), respectively, 27 days post-B1 and were unaffected by B2.
De novo interstitial deletion 13q33.3q34 in a male patient with double outlet right ventricle, microcephaly, dysmorphic craniofacial findings, and motor and developmental delay.
Greally et al., Dublin, Ireland. In Am J Med Genet A, 21 Apr 2015
In this report we propose that COL4A1 and COL4A2 may be candidate genes for congenital heart disease (CHD) in individuals with a deletion in 13q within the 6Mb critical region for cardiac development proposed by Huang et al., [2012].
Molecular and Genetic Analysis of Collagen Type IV Mutant Mouse Models of Spontaneous Intracerebral Hemorrhage Identify Mechanisms for Stroke Prevention.
Gould et al., San Francisco, United States. In Circulation, 09 Apr 2015
BACKGROUND: -Collagen type IV alpha 1 (COL4A1) and alpha 2 (COL4A2) form heterotrimers critical for vascular basement membrane stability and function.
The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.
Mancini et al., Rotterdam, Netherlands. In Genet Med, 26 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.
[79-OR]: Anti-angiogenic collagen fragment arresten is significantly increased from 16 weeks in preeclamptic plasma and correlates with preeclamptic disease severity.
Keogh et al., Melbourne, Australia. In Pregnancy Hypertens, Jan 2015
OBJECTIVES: Arresten is an endogenous anti-angiogenic peptide derived from the non-collagenous domain of collagen IV α-chain COL4A1.
Genetics of cerebral small vessel disease.
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.
[81-OR]: Genome-wide transcriptome directed pathway analysis of maternal preeclampsia susceptibility genes.
Moses et al., Melbourne, Australia. In Pregnancy Hypertens, Jan 2015
Pathways were analysed and constructed using Ariadne Pathway Studio 9. We examined the following susceptibility genes: ACVR1, ACVR1C, ACVR2A, COL4A1, COL4A2, ERAP1, ERAP2, INHA, INHBB and LNPEP (Yong et al., 2014).
Association of genetic variants with diabetic nephropathy.
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.
Effects of angiotensin II intervention on MMP-2, MMP-9, TIMP-1, and collagen expression in rats with pulmonary hypertension.
Yang et al., Chengdu, China. In Genet Mol Res, Dec 2014
Real-time fluorescent quantitative PCR was used to detect MMP2, MMP9, TIMP1, COL1A1, and COL4A1 mRNA expression.
Molecular basis of young ischemic stroke.
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.
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.
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.
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.
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.
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?
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.
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.
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.
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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