GoPubMed Proteins lists recent and important papers and reviews for
proteins. Page last changed on 14 Mar 2013.
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)
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Papers on
COL4A1
Variants of Anterior Segment Dysgenesis and Cerebral Involvement in a Large Family With a Novel COL4A1 Mutation.
New
Bergen, Norway. In Am J Ophthalmol, 06 Mar 2013
Haplotype mapping revealed that they shared a 14 cM region in the terminal part of chromosome 13q that included the locus for COL4A1.
Vitamin D activation of functionally distinct regulatory miRNAs in primary human osteoblasts.
New
Los Angeles, United States. In J Bone Miner Res, 01 Mar 2013
Analysis of two potential targets for miR-637 and miR-1228 in HOB, type IV collagen (COL4A1) and bone morphogenic protein 2 kinase (BMP2K) respectively, showed that 1,25D-mediates suppression of these targets via distinct mechanisms.
Phenotypic Spectrum of COL4A1 Mutations: Porencephaly to Schizencephaly.
New
Yokohama, Japan. In Ann Neurol, Jan 2013
OBJECTIVE: Recently, COL4A1 mutations have been reported in porencephaly and other cerebral vascular diseases, often associated with ocular, renal, and muscular features.
The wilms tumor gene, wt1, maintains testicular cord integrity by regulating the expression of col4a1 and col4a2.
New
Beijing, China. In Biol Reprod, Dec 2012
However, the mRNA level of Col4a1 and Col4a2 was significantly decreased in Wt1-deficient testes.
COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets.
Review
New
San Francisco, United States. In Hum Mol Genet, Nov 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.
Childhood presentation of COL4A1 mutations.
Review
New
Bristol, United Kingdom. In Dev Med Child Neurol, Jun 2012
OBJECTIVE: To describe the clinical and radiological features of four new families with a childhood presentation of COL4A1 mutation.
Arresten, a collagen-derived angiogenesis inhibitor, suppresses invasion of squamous cell carcinoma.
Oulu, Finland. In Plos One, 2011
Arresten is an endogenous angiogenesis inhibitor that is derived from the non-collagenous domain of the basement membrane collagen IV α1 chain.
Multiplex transcriptional analysis of paraffin-embedded liver needle biopsy from patients with liver fibrosis.
Chesterfield, United States. In Fibrogenesis Tissue Repair, 2011
Statistical analysis revealed that three genes (COL3A1, KRT18, and TUBB) could separate fibrotic from non-fibrotic samples and that the expression of ten genes (ANXA2, TIMP1, CTGF, COL4A1, KRT18, COL1A1, COL3A1, ACTA2, TGFB1, LOXL2) were positively correlated with the level of liver inflammation activity.
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
San Antonio, United States. In Plos One, 2011
Identified genome-wide significant loci: 1) corroborated genes implicated in other studies (MTNR1B, ZNF259/APOA5, XPA/FOXE1 (TTF-2), DARC, CCR3, ABO); 2) localized novel genes in plausible biological pathways (PCSK2, ARHGAP11A, CHRNA3); and 3) revealed novel genes with unknown function in obesity pathogenesis (MATK, COL4A1).
Collagen IV-derived peptide binds hydrophobic cavity of Legionella pneumophila Mip and interferes with bacterial epithelial transmigration.
GeneRIF
Braunschweig, Germany. In Cell Microbiol, 2011
The corresponding human collagen IV-derived peptide (P290) co-precipitated with Legionella pneumophila Mip and competitively inhibited the Mip-collagen IV binding.
Genetics of anterior segment dysgenesis disorders.
Review
Milwaukee, United States. In Curr Opin Ophthalmol, 2011
RESULTS: Mutations in Collagen type IV alpha-1 (COL4A1) and Beta-1,3-galactosyltransferase-like (B3GALTL) have been reported in ASD patients.
Stroke-related translational research.
Review
Boston, United States. In Arch Neurol, 2011
Herein, we highlight genome-wide association studies and genetic studies of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, COL4A1 mutations, and cerebral cavernous malformations; advances in molecular biology and biomarkers; newer brain imaging research; and recovery from stroke emphasizing cell-based and other rehabilitative modalities.
COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans.
GeneRIF
San Francisco, United States. In Plos Genet, 2011
identified putative heterozygous mutations in COL4A1 in two Muscle-eye-brain disease/Walker-Warburg syndrome patients
Sporadic COL4A1 mutations with extensive prenatal porencephaly resembling hydranencephaly.
GeneRIF
Rotterdam, Netherlands. In Neurology, 2011
Sporadic COL4A1 mutations are associated with sporadic severe antenatal hemorrhagic stroke resembling hydranencephaly.
Fetal origin of brain damage in 2 infants with a COL4A1 mutation: fetal and neonatal MRI.
GeneRIF
Amsterdam, Netherlands. In Neuropediatrics, 2011
study describes 2 infants with a COL4A1 mutation and fetal intracerebral hemorrhages with posthemorrhagic ventricular dilatation on their fetal MRI
Clinical spectrum of type IV collagen (COL4A1) mutations: a novel genetic multisystem disease.
Review
GeneRIF
France. In Curr Opin Neurol, 2011
review dsecribes the clinical spectrum of a newly identified disorder related to COL4A1 gene mutations; COL4A1 disorder is probably largely underestimated because of its multisystem and variable phenotype [review]
Sequence variants in COL4A1 and COL4A2 genes in Ecuadorian families with keratoconus.
GeneRIF
Poznań, Poland. In Mol Vis, 2010
Screening of COL4A1 and COL4A2 revealed numerous alterations in coding and non-coding regions of both genes in keratoconus patients. None of the identified sequence variants completely segregated with the affected keratoconus phenotype.
COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps.
Impact
GeneRIF
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
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
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
