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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 23 May 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
Downregulation of the DNA repair enzyme apurinic/apyrimidinic endonuclease 1 stimulates transforming growth factor-β1 production and promotes actin rearrangement.
New
Inanami et al., Sapporo, Japan. In Biochem Biophys Res Commun, 22 Jun 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.
Two families with novel missense mutations in COL4A1: When diagnosis can be missed.
New
Brussino et al., Torino, Italy. In J Neurol Sci, 15 Jun 2015
Mutations in COL4A1, encoding one of the six collagen type IV proteins, cover a wide spectrum of autosomal dominant overlapping phenotypes including porencephaly, small-vessel disease and hemorrhagic stroke, leukoencephalopathy, hereditary angiopathy with nephropathy, aneurysms and muscle cramp (HANAC) syndrome, and Walker-Warburg syndrome.
De Novo interstitial deletion 13q33.3q34 in a male patient with double outlet right ventricle, microcephaly, dysmorphic craniofacial findings, and motor and developmental delay.
New
Greally et al., Dublin, Ireland. In Am J Med Genet A, 31 May 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].
Extracellular matrix remodeling and its contribution to protective adaptation following lengthening contractions in human muscle.
New
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.
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.
Gene expression profile analyze the molecular mechanism of CXCR7 regulating papillary thyroid carcinoma growth and metastasis.
New
Liu et al., Shenyang, China. In J Exp Clin Cancer Res, Dec 2014
More importantly, the expression level of genes closely associated with tumor growth and metastasis was altered significantly in K1-CXCR7 cells, including up-regulated genes FN1, COL1A1, COL4A1, PDGFRB, LTB, CXCL12, MMP-11, MT1-MMP and down-regulated genes ITGA7, and Notch-1.
Effects of angiotensin II intervention on MMP-2, MMP-9, TIMP-1, and collagen expression in rats with pulmonary hypertension.
New
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.
Polymorphisms of COL4A1 gene are associated with arterial pulse wave velocity in healthy Han Chinese and Uygur subjects.
New
Chen et al., Ürümqi, China. In Int J Clin Exp Med, Dec 2014
However, the relationship between genetic polymorphisms of COL4A1 gene and PWV in healthy Han Chinese and Uygur subjects remains unclear.
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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