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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 04 Mar 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
Common variation in COL4A1/COL4A2 is associated with sporadic cerebral small vessel disease.
New
METASTROKE Consortium et al., Aş Şanamayn, Syria. In Neurology, 03 Apr 2015
OBJECTIVES: We hypothesized that common variants in the collagen genes COL4A1/COL4A2 are associated with sporadic forms of cerebral small vessel disease.
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, 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.
A novel mutation in COL4A1 gene: A possible cause of early postnatal cerebrovascular events.
New
Orcesi et al., Pavia, Italy. In Am J Med Genet A, 23 Mar 2015
UNASSIGNED: COL4A1 is located in humans on chromosome13q34 and it encodes the alpha 1 chain of type IV collagen, a component of basal membrane.
Adult-onset genetic leukoencephalopathies: A MRI pattern-based approach in a comprehensive study of 154 patients.
New
Labauge et al., Montpellier, France. In Brain, 28 Feb 2015
In the vascular group, 41/55 patients (75%) finally had a diagnosis [including CADASIL (cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy, n = 32) and COL4A1 mutation, n = 7].
The Small Leucine-Rich Proteoglycan BGN Accumulates in CADASIL and Binds to NOTCH3.
New
Wang et al., Ann Arbor, United States. In Transl Stroke Res, 13 Feb 2015
Human cerebrovascular smooth muscle cells exposed to purified NOTCH3 ectodomain upregulated BGN, DCN, and COL4A1 through mechanisms that are sensitive to rapamycin, a potent mTOR inhibitor.
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 a polymorphism of the interleukin 6 receptor gene with chronic kidney disease in Japanese individuals.
New
Yamada et al., Tajimi, Japan. In Nephrology (carlton), Jan 2015
RESULTS: The chi-square test revealed that rs4845625 (T→C) of IL6R, rs4773144 (A→G) of COL4A1, rs9319428 (G→A) of FLT1, and rs46522 (T→C) of UBE2Z were significantly (P <0.05) related to CKD.
Intracranial Hemorrhage and Tortuosity of Veins Detected on Susceptibility-weighted Imaging of a Child with a Type IV Collagen α1 Mutation and Schizencephaly.
New
Imai et al., Funaishikawa, Japan. In Magn Reson Med Sci, Jan 2015
UNASSIGNED: Type IV collagen α1 (COL4A1) forms a sheet-like network beneath the endothelium and surrounding smooth muscle cells.
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.
Exome Sequencing in 32 Patients with Anophthalmia/Microphthalmia and Developmental Eye Defects.
New
Chen et al., San Francisco, United States. In Clin Genet, 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.
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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