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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 03 Dec 2014.

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
Exome Sequencing in 32 Patients with Anophthalmia/Microphthalmia and Developmental Eye Defects.
Chen et al., San Francisco, United States. In Clin Genet, 02 Jan 2015
In patients with developmental eye defects, a female with cataracts and cardiomyopathy had a de novo COL4A1 mutation, p.(Gly773Arg), expanding the phenotype associated with COL4A1 to include cardiomyopathy.
Porencephaly in a fetus and HANAC in her father: Variable expression of COL4A1 mutation.
Kosaki et al., Tokyo, Japan. In Am J Med Genet A, 25 Dec 2014
UNLABELLED: COL4A1-associated disorders encompass a wide range of hereditary vasculopathy, including porencephaly and HANAC (adult-onset hemorrhagic stroke with cerebral aneurysm and retinal arterial tortuosity, renal cysts, and thenar muscle cramp).
Repression of let-7 by Transforming Growth Factor-β1-induced Lin28 up-regulates collagen expression in glomerular mesangial cells under diabetic conditions.
Natarajan et al., New Hope, United States. In Am J Physiol Renal Physiol, 29 Nov 2014
UNLABELLED: Accumulation of mesangial extracellular matrix (ECM) proteins such as collagen type 1-α2 (col1a2) and type 4-α1 (col4a1) is a key feature of diabetic nephropathy (DN).
Loss of heterozygosity of chromosome 13q33-34 region and molecular analysis of ING1 and p53 genes in bladder carcinoma.
Cengiz et al., Gaziantep, Turkey. In Mol Biol Rep, 17 Nov 2014
As for the LOH data 13q33-34 region may contain different candidate TSGs like COL4A1, COL4A2 and SOX1.
Adult-onset genetic leukoencephalopathies. Focus on the more recently defined forms.
Dotti et al., Siena, Italy. In Curr Mol Med, 10 Nov 2014
The most common forms are related to vascular pathology, such as cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL), COL4A1-related leukoencephalopathy, retinal vasculopathy with cerebral leukodystrophy (RVCL), and polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL).
Disruption of microRNA-21 by TALEN leads to diminished cell transformation and increased expression of cell-environment interaction genes.
Lin et al., Duarte, United States. In Cancer Lett, 07 Nov 2014
In addition to the increase of PDCD4 and PTEN protein, mRNAs for COL4A1, JAG1, SERPINB5/Maspin, SMAD7, and TGFBI - all are miR-21 targets and involved in TGFβ and fibrosis regulation - were significantly upregulated in miR-21 knockout cells.
Lack of validation of variants associated with cervical dystonia risk: A GWAS replication study.
Mir et al., Sevilla, Spain. In Mov Disord, Oct 2014
The SNPs selected for genotyping were two SNPS in the NALCN gene (rs61973742 and rs1338041), one SNP in the OR4X2 gene (rs67863238), one SNP in the COL4A1 region (rs619152), and one intergenic SNP (rs1249277).
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.
Hereditary cerebral small vessel diseases: a review.
Dotti et al., Siena, Italy. In J Neurol Sci, 2012
Clinical features and diagnostic clues of these conditions, [cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL), COL4A1-related cerebral small vessel diseases, autosomal dominant retinal vasculopathy with cerebral leukodystrophy (AD-RVLC), and Fabry's disease] are here reviewed.
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.
Genetics of anterior segment dysgenesis disorders.
Semina et al., Milwaukee, United States. In Curr Opin Ophthalmol, 2011
RECENT FINDINGS: Mutations in Collagen type IV alpha-1 (COL4A1) and Beta-1,3-galactosyltransferase-like (B3GALTL) have been reported in ASD patients.
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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