Genomes and Genes
Gene Symbol: COL4A1
Description: collagen type IV alpha 1 chain
Alias: BSVD, RATOR, collagen alpha-1(IV) chain, COL4A1 NC1 domain, arresten, collagen IV, alpha-1 polypeptide, collagen of basement membrane, alpha-1 chain
Publications193 found, 100 shown here
- Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephalyDouglas B Gould
Howard Hughes Medical Institute, Bar Harbor, ME 04609, USA
Science 308:1167-71. 2005..We show that vascular defects are caused by a semidominant mutation in the procollagen type IV alpha 1 gene (Col4a1) in mice, which inhibits the secretion of mutant and normal type IV collagen...
- Vascular gene expression patterns are conserved in primary and metastatic brain tumorsYang Liu
Department of Neurosurgery, University of Rochester, 601 Elmwood Avenue, Box 670, Rochester, NY 14642, USA
J Neurooncol 99:13-24. 2010..Most of these genes localize to the cell surface (CXCR7, PV1) or extracellular matrix (COL1A1, COL3A1, COL4A1, COL6A2, MMP14, PXDN) and were selectively expressed by the microvasculature...
- Identification of a novel sequence element in the common promoter region of human collagen type IV genes, involved in the regulation of divergent transcriptionG Fischer
Max Planck Institut fur Biochemie, Abt für Bindegewebsforschung, Martinsried, Germany
Biochem J 292:687-95. 1993..The two genes COL4A1 and COL4A2 that code for the subunits are found closely linked on chromosome 13 in a head-to-head arrangement and ..
- Anti-angiogenic cues from vascular basement membrane collagenP C Colorado
Department of Medicine and the Cancer Center, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, Massachusetts 02215, USA
Cancer Res 60:2520-6. 2000..basement membrane-associated protein, the 26-kDa NC1 domain of the alpha1 chain of type IV collagen, termed arresten. Arresten was isolated from human placenta and produced as a recombinant molecule in Escherichia coli and 293 ..
- The 1.9-A crystal structure of the noncollagenous (NC1) domain of human placenta collagen IV shows stabilization via a novel type of covalent Met-Lys cross-linkManuel E Than
Max Planck Institut fur Biochemie, Am Klopferspitz 18a, 82152 Martinsried, Germany
Proc Natl Acad Sci U S A 99:6607-12. 2002..This structure provides insights into NC1-related diseases such as Goodpasture and Alport syndromes...
- Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephalyG Breedveld
Department of Clinical Genetics, Erasmus University Medical Centre, PO Box 1738, 3000 DR Rotterdam, Netherlands
J Med Genet 43:490-5. 2006..b>COL4A1 is an essential component in basal membrane stability...
- Human alpha1 type IV collagen NC1 domain exhibits distinct antiangiogenic activity mediated by alpha1beta1 integrinAkulapalli Sudhakar
Cell Signaling and Angiogenesis Laboratory, Department of Genetics, Boys Town National Research Hospital, Omaha, Nebraska 68131, USA
J Clin Invest 115:2801-10. 2005Human noncollagenous domain 1 of the alpha1 chain of type IV collagen [alpha1(IV)NC1], or arresten, is derived from the carboxy terminal of type IV collagen...
- Neonatal porencephaly and adult stroke related to mutations in collagen IV A1Marjo S van der Knaap
Department of Child Neurology, VU University Medical Center, Amsterdam, The Netherlands
Ann Neurol 59:504-11. 2006..The objective of this study was to describe leukoencephalopathy, lacunar infarcts, microbleeds and macrobleeds in the context of a collagen IV A1 mutation...
- COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and strokeIgor Sibon
Centre Hospitalier Universitaire Bordeaux, Fédération des Neurosciences Cliniques, Hopital Pellegrin, Bordeaux, France
Ann Neurol 62:177-84. 2007..Some of them have ophthalmological, mainly retinal, manifestations. Herein, we report on a family affected by vascular leukoencephalopathy and variable abnormalities of the anterior chamber of the eye...
- Clinical and brain MRI follow-up study of a family with COL4A1 mutationK Vahedi
Service de Neurologie, Assistance Publique Hopitaux de Paris, Hopital Lariboisiere, Service de Neurologie, 2 rue Ambroise Pare, 75010 Paris, France
Neurology 69:1564-8. 2007To better delineate the clinical spectrum and the natural history of COL4A1 mutations, a newly defined genetic cause of small vessel disease including the brain and retina.
- Genetic risk for myocardial infarction determined by polymorphisms of candidate genes in a Japanese populationY Yamada
Department of Human Functional Genomics, Life Science Research Center, Mie University, 1577 Kurima machiya, Tsu, Mie 514 8507, Japan
J Med Genet 45:216-21. 2008..Although several environmental factors influence the development of myocardial infarction (MI), genetic factors have been shown to contribute to individual susceptibility to this condition...
- COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle crampsEmmanuelle Plaisier
INSERM Unité 702, Universite Pierre et Marie Curie, Paris 6, Unités Mixtes de Recherche Scientifique 702, Assistance Publique Hopitaux de Paris, Hopital Tenon, France
N Engl J Med 357:2687-95. 2007..However, the causative genes for a number of hereditary multicystic kidney diseases, myopathies with cramps, and heritable intracranial aneurysms remain unknown...
- Characterization of the anti-angiogenic properties of arresten, an alpha1beta1 integrin-dependent collagen-derived tumor suppressorPia Nyberg
Center for Matrix Biology, Department of Medicine, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA, USA
Exp Cell Res 314:3292-305. 2008..Several collagen-derived fragments possess anti-angiogenic activity. Arresten is the 26-kDa non-collagenous domain of type IV collagen alpha1 chain...
- COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhageLinda S de Vries
Department of Neonatology, Wilhelmina Children s Hospital, UMC Utrecht, The Netherlands
Ann Neurol 65:12-8. 2009..To report the presence of intracerebral hemorrhage and porencephaly, both present at birth, in two preterm infants with a mutation in the collagen 4 A1 gene...
- A dominantly inherited mutation in collagen IV A1 (COL4A1) causing childhood onset stroke without porencephalySiddharth Shah
Department of Paediatric Neurology, Bristol Royal Hospital for Children, United Kingdom
Eur J Paediatr Neurol 14:182-7. 2010..All of the family members had cataracts but did not have retinal arterial changes. Sequence analysis of COL4A1 revealed the heterozygous missense mutation c...
- COL4A1 mutation in preterm intraventricular hemorrhageKaya Bilguvar
Department of Neurosurgery, Yale University School of Medicine, New Haven, CT 06520, USA
J Pediatr 155:743-5. 2009Intraventricular hemorrhage is a common complication of preterm infants. Mutations in the type IV procollagen gene, COL4A1, are associated with cerebral small vessel disease with hemorrhage in adults and fetuses...
- Cerebrovascular disease related to COL4A1 mutations in HANAC syndromeS Alamowitch
Tenon Hospital, Stroke Unit, Department of Neurology, Paris, France
Neurology 73:1873-82. 2009b>COL4A1 mutations cause familial porencephaly, infantile hemiplegia, cerebral small vessel disease (CSVD), and hemorrhagic stroke...
- COL4A1 is associated with arterial stiffness by genome-wide association scanKirill V Tarasov
Laboratory of Cardiovascular Science, Laboratory of Genetics, Clinical Research Branch, Intramural Research Program, National Institute on Aging, National Institutes of Health, Baltimore, MD, USA
Circ Cardiovasc Genet 2:151-8. 2009..Heritability and linkage studies have pointed toward a genetic component affecting PWV. We conducted a genome-wide association study to identify single-nucleotide polymorphisms (SNPs) associated with PWV...
- High glucose down-regulates miR-29a to increase collagen IV production in HK-2 cellsBin Du
Key Laboratory of Gene Engineering of the Ministry of Education, State Key Laboratory for Biocontrol, Sun Yat Sen University, Guangzhou, PR China
FEBS Lett 584:811-6. 2010..We then showed that miR-29a negatively regulated collagen IV by directly targeting the 3'UTRs of col4a1 and col4a2...
- Ophthalmological features associated with COL4A1 mutationsIsabelle Coupry
Laboratoire de Génétique Humaine, Universite Victor Segalen Bordeaux 2, Universite Bordeaux 2, Bordeaux, France
Arch Ophthalmol 128:483-9. 2010To investigate the wide variability of ocular manifestations associated with mutations in the COL4A1 gene that encodes collagen IValpha1.
- Novel COL4A1 mutations associated with HANAC syndrome: a role for the triple helical CB3[IV] domainEmmanuelle Plaisier
AP HP, Department of Nephrology, Tenon Hospital, INSERM U702, UMRS702, Universite Pierre et Marie Curie Paris 6, Paris, France
Am J Med Genet A 152:2550-5. 2010The COL4A1 gene encodes the α1-chain of type IV collagen, which is ubiquitously expressed in basement membranes...
- Fetal origin of brain damage in 2 infants with a COL4A1 mutation: fetal and neonatal MRIR J Vermeulen
Department of Child Neurology, VU University Medical Center, Neuroscience Campus Amsterdam, Amsterdam, The Netherlands
Neuropediatrics 42:1-3. 2011Mutations in the gene COL4A1, encoding collagen IV A1, are associated with familial porencephaly. Previously, COL4A1 mutation-associated antenatal hemorrhages have been suggested by early post-natal imaging...
- COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humansCassandre Labelle-Dumais
Departments of Ophthalmology and Anatomy, Institute for Human Genetics, University of California San Francisco School of Medicine, San Francisco, California, United States of America
PLoS Genet 7:e1002062. 2011..we provide evidence that mutations in a gene coding for a major basement membrane protein, collagen IV alpha 1 (COL4A1), are a novel cause of MEB/WWS...
- COL4A1 mutations associated with a characteristic pattern of intracranial calcificationJ Livingston
Department of Paediatric Neurology, Leeds General Infirmary, UK
Neuropediatrics 42:227-33. 2011..study of ICC, we identified 5 patients with characteristic radiological features, in whom a mutation in the COL4A1 gene was found.All patients had CT and MR imaging...
- COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic strokeMarion Jeanne
Departments of Ophthalmology and Anatomy, Institute for Human Genetics, University of California, San Francisco School of Medicine, 94143, USA
Am J Hum Genet 90:91-101. 2012Collagen, type IV, alpha 1 (COL4A1) and alpha 2 (COL4A2) form heterotrimers and are abundant components of basement membranes, including those of the cerebral vasculature...
- p53 inhibits angiogenesis by inducing the production of ArrestenSarah Assadian
Goodman Cancer Research Center, Department of Biochemistry, McGill University, Montreal, Quebec, Canada
Cancer Res 72:1270-9. 2012..Among those is Arresten, a collagen-derived antiangiogenic factor (CDAF) that is processed from α1 collagen IV...
- COL4A1 mutations in patients with sporadic late-onset intracerebral hemorrhageYi Chinn Weng
Department of Ophthalmology, Institute for Human Genetics, UCSF School of Medicine, San Francisco, CA, USA
Ann Neurol 71:470-7. 2012Mutations in the type IV collagen alpha 1 gene (COL4A1) cause dominantly inherited cerebrovascular disease. We seek to determine the extent to which COL4A1 mutations contribute to sporadic, nonfamilial, intracerebral hemorrhages (ICHs).
- Childhood presentation of COL4A1 mutationsSiddharth Shah
Department of Paediatric Neurology, Bristol Royal Hospital for Children, Bristol, UK
Dev Med Child Neurol 54:569-74. 2012To describe the clinical and radiological features of four new families with a childhood presentation of COL4A1 mutation.
- COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targetsDebbie S Kuo
Department of Ophthalmology, UCSF School of Medicine, San Francisco, CA 94143, USA
Hum Mol Genet 21:R97-110. 2012Heterotrimers composed of collagen type IV alpha 1 (COL4A1) and alpha 2 (COL4A2) constitute one of the most abundant components of nearly all basement membranes...
- Variants of anterior segment dysgenesis and cerebral involvement in a large family with a novel COL4A1 mutationEyvind Rødahl
Department of Ophthalmology, Haukeland University Hospital, Bergen, Norway
Am J Ophthalmol 155:946-53. 2013..To investigate the diverse ocular manifestations and identify the causative mutation in a large family with autosomal dominant anterior segment dysgenesis accompanied in some individuals by cerebral vascular disease...
- Role of COL4A1 in small-vessel disease and hemorrhagic strokeDouglas B Gould
Howard Hughes Medical Institute, Bar Harbor, ME, USA
N Engl J Med 354:1489-96. 2006..In this report, we show that a mutation in the mouse Col4a1 gene, encoding procollagen type IV alpha1, predisposes both newborn and adult mice to intracerebral hemorrhage...
- Cloning, purification, and characterization of a non-collagenous anti-angiogenic protein domain from human alpha1 type IV collagen expressed in Sf9 cellsChandra Shekhar Boosani
Cell Signaling and Angiogenesis Laboratory, Department of Genetics, Boys Town National Research Hospital, Omaha, NE, USA
Protein Expr Purif 49:211-8. 2006..The purified protein showed its characteristic activities such as inhibiting cell proliferation, migration, and tube formation in endothelial cells...
- Control of melanoma cell invasion by type IV collagenSylvie Pasco
Laboratoire de Biochimie, UMR 6198 CNRS, IFR 53 Biomolecules, UFR Medecine, Universite de Reims Champagne Ardenne, 51 rue Cognacq Jay, F51095, Reims Cedex, France
Cancer Detect Prev 29:260-6. 2005..Peptide sequences from the alpha1(IV), alpha2(IV) and alpha3(IV) chains named arresten, canstatin and tumstatin, respectively were shown to inhibit angiogenesis...
- Immunohistochemical localization of basement membrane collagens and associated proteins in the murine cochleaD Cosgrove
Boys Town National Research Hospital, Department of Genetics, Omaha, NE 68131, USA
Hear Res 97:54-65. 1996..The classical chains (COL4A1, 4A2) localized primarily in the osseous spiral lamina and in the capillaries of the spiral ligament...
- Gene expression profiles reflect sclerosing cholangitis activity in abcb4 (-/-) miceKarl E Nakken
Institute for Experimental Medical Research, Ulleval University Hospital and University of Oslo, Oslo, Norway
Scand J Gastroenterol 44:211-8. 2009..The activity of abcb4 (-/-) SC can be altered through dietary intervention: abcb4 (-/-) mice fed cholic acid (CA) display high SC activity, whereas ursodeoxycholic acid (UDCA)-fed mice display low SC activity...
- Role of miR-29b on the regulation of the extracellular matrix in human trabecular meshwork cells under chronic oxidative stressCoralia Luna
Department of Ophthalmology, Duke University, Durham, NC
Mol Vis 15:2488-97. 2009..To investigate the role of miR-29b on the changes in expression of genes involved in the synthesis and deposition of extracellular matrix (ECM) induced by chronic oxidative stress in human trabecular meshwork cells (HTM)...
- Microarray gene expression profiling of osteoarthritic bone suggests altered bone remodelling, WNT and transforming growth factor-beta/bone morphogenic protein signallingBlair Hopwood
Division of Tissue Pathology, Institute of Medical and Veterinary Science, Frome Road, Adelaide, South Australia, 5000, Australia
Arthritis Res Ther 9:R100. 2007..growth factor (TGF)-beta/bone morphogenic protein (BMP) signalling pathway (ADAMTS4, ADM, MEPE, GADD45B, COL4A1 and FST)...
- Collagen IV is essential for basement membrane stability but dispensable for initiation of its assembly during early developmentErnst Poschl
Department of Experimental Medicine I, University Erlangen Nurnberg, 91054 Erlangen, Germany
Development 131:1619-28. 2004..for basement membrane assembly and embryonic development, we generated a null allele of the Col4a1/2 locus in mice, thereby ablating both alpha-chains. Unexpectedly, embryos developed up to E9...
- Structural and regulatory macromolecules in sex differentiation of gonadsL J Pelliniemi
Laboratory of Electron Microscopy, University of Turku, FIN 20520 Turku, Finland
J Exp Zool 290:523-8. 2001..J. Exp. Zool. 290:523-528, 2001...
- Screening and identification of differentially expressed genes from chickens infected with Newcastle disease virus by suppression subtractive hybridizationDaoliang Lan
College of Life Science and Technology, Southwest University for Nationality, Chengdu, People s Republic of China
Avian Pathol 39:151-9. 2010..LOC423724, SATB1, QKI, ETV6), cellular molecular dynamics (MYLK, MYO7A, DCTN6), cytoskeleton (LAMA4, LAMC1, COL4A1), stress response (DNAJC15, CIRBP), immune response (TIA1, TOX, CMIP), metabolism (RPS15A, RPL32, GLUT8, CYPR21, ..
- Multiple inflammatory-, tissue remodelling- and fibrosis genes are differentially transcribed in the livers of Abcb4 (-/ - ) mice harbouring chronic cholangitisKarl Esten Nakken
Institute for Experimental Medical Research, Ulleval University Hospital and University of Oslo, Oslo, Norway
Scand J Gastroenterol 42:1245-55. 2007..The aim of this study was to identify differentially transcribed genes whose products contribute to the liver tissue pathology during this disease...
- [Expression and biological activities of arresten in CHO cells]Miao yun Long
Department of Hepatobiliary Surgery, Xiehe Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China
Zhonghua Zhong Liu Za Zhi 29:249-52. 2007To explore the eukaryotic expression of arresten in CHO cells and to investigate its basic biological activities.
- Evidence in favor of the contribution of genes involved in the maintenance of the extracellular matrix of the arterial wall to the development of intracranial aneurysmsYnte M Ruigrok
Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, The Netherlands
Hum Mol Genet 15:3361-8. 2006..0044), fibronectin (FN1, P=0.0069), fibrillin 2 (FBN2, P=0.0077) and alpha 1 type IV collagen (COL4A1, P=0.0087)...
- Role of COL4A1 in basement-membrane integrity and cerebral small-vessel disease. The COL4A1 stroke syndromeI Volonghi
Dipartimento di Scienze Mediche e Chirurgiche, Clinica Neurologica, Universita degli Studi di Brescia, P le Spedali Civili, 1, 25123 Brescia Italy
Curr Med Chem 17:1317-24. 2010Type IV collagens are basement membrane (BM) proteins expressed in all tissues including the vasculature. COL4A1 and COL4A2, the most abundant type IV collagens, form heterotrimers with a 2:1 stoichiometry and each heterotrimer forms a ..
- A possible role of thioredoxin interacting protein in the pathogenesis of streptozotocin-induced diabetic nephropathyYasuhiro Hamada
Division of Nephrology and Dialysis Center, Kobe University Graduate School of Medicine, Kobe, Japan
Kobe J Med Sci 53:53-61. 2007..In addition, the expression of Type IV collagen alpha1 chain (Col4A1), Transforming growth factor-beta (TGF-beta), and Txnip were evaluated by real-time polymerase chain reaction...
- Gene expression profile of oral squamous cell carcinomas from Sri Lankan betel quid usersMai Lill Suhr
Department of Biomedicine, University of Bergen, Jonas Lies Vej 91, 5009 Bergen, Norway
Oncol Rep 18:1061-75. 2007..For the genes with known functions, 66 (34%; such as COL4A1, MMP1, MMP3, PLAU, SPARC and KRT19) were previously reported in OSCC and for the remaining 126 (66%; such as CD47, ..
- Mannose-binding lectin deficiency attenuates renal changes in a streptozotocin-induced model of type 1 diabetes in miceJ Østergaard
The Medical Research Laboratories, Clinical Institute and Medical Department M Diabetes and Endocrinology, Aarhus University Hospital, Nørrebrogade 44, 8000, Aarhus C, Denmark
Diabetologia 50:1541-9. 2007..The main objective of the study was to analyse whether MBL influences the effects of diabetes on the kidneys...
- Identification of a new mutation in the alpha4(IV) collagen gene in a family with autosomal dominant Alport syndrome and hypercholesterolaemiaM Ciccarese
Department of Molecular Medicine and CMM, Karolinska Institutet, Stockholm, Sweden
Nephrol Dial Transplant 16:2008-12. 2001..Rare autosomal forms of AS have been described with mutations in COL4A3 and COL4A4 at chromosome region 2q35-q37, but there have been no descriptions of dominant forms due to a mutation in COL4A4...
- Dominant mutations of Col4a1 result in basement membrane defects which lead to anterior segment dysgenesis and glomerulopathyTom Van Agtmael
Molecular Physiology, Centre for Cardiovascular Science, University of Edinburgh, UK
Hum Mol Genet 14:3161-8. 2005..have identified an allelic series of three ENU induced dominant mouse mutants with missense mutations in the gene Col4a1 encoding the alpha1(IV) subunit chain...
- Morphological and proteomic analysis of early stage of osteoblast differentiation in osteoblastic progenitor cellsDun Hong
Population Council, 1230 York Avenue, New York, NY 10065, USA
Exp Cell Res 316:2291-300. 2010..found the upregulation of FLNA, LAMA1, LAMA5, COL1A1, COL3A1, COL4A6, and COL5A2 as well as the downregulation of COL4A1, COL4A2, and COL4A4...
- Type IV collagen-derived angiogenesis inhibitorsThomas M Mundel
Division of Matrix Biology, Department of Medicine, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA 02215, USA
Microvasc Res 74:85-9. 2007..This review will particularly focus on the type IV collagen-derived angiogenesis inhibitors Arresten, Canstatin and Tumstatin.
- Inhibitory effects of arresten on bFGF-induced proliferation, migration, and matrix metalloproteinase-2 activation in mouse retinal endothelial cellsChandra Shekar Boosani
Department of Genetics, Boys Town National Research Hospital, Omaha, Nebraska 68131, USA
Curr Eye Res 35:45-55. 2010The potential role of arresten (alpha1(IV)NC1) as an endogenous angiogenesis inhibitor in the prevention of bFGF mediated retinal angiogenesis and regulation of matrix metalloproteinase-2 activation has not been explored.
- Homologs of genes and anonymous loci on human chromosome 13 map to mouse chromosomes 8 and 14T Koizumi
Laboratory Animal Center, Fukui Medical School, Japan
Mamm Genome 6:263-8. 1995..Of the clones for four genes and twelve anonymous loci tested, cross-hybridization was found for six, COL4A1, COL4A2, D13S26, D13S35, F10, and PCCA...
- Type IV procollagen missense mutations associated with defects of the eye, vascular stability, the brain, kidney function and embryonic or postnatal viability in the mouse, Mus musculus: an extension of the Col4a1 allelic series and the identification of Jack Favor
Institute of Human Genetics, GSF National Research Center for Environment and Health, D 85764 Neuherberg, Germany
Genetics 175:725-36. 2007..Major components of the basement membrane include laminins and type IV collagens. The type IV procollagens Col4a1 and Col4a2 form the heterotrimer [alpha1(IV)]2[alpha2(IV)], which is ubiquitously expressed in basement membranes ..
- Col4a1 mutation causes endoplasmic reticulum stress and genetically modifiable ocular dysgenesisDouglas B Gould
The Jackson Laboratory, Bar Harbor, ME 04609, USA
Hum Mol Genet 16:798-807. 2007..Here, we show that a mutation in the type IV collagen alpha 1 (Col4a1) gene can cause both ASD and optic nerve hypoplasia. COL4A1 is a major component of almost all basement membranes...
- COL4A1 mutation in a patient with sporadic, recurrent intracerebral hemorrhageKatayoun Vahedi
AP HP, Service de Neurologie, Hopital Lariboisiere, Paris, France
Stroke 38:1461-4. 2007Recently COL4A1, a gene encoding the type IV collagen alpha1 chain, has been found to be involved in families with autosomal-dominant porencephaly and infantile hemiparesis...
- Unique changes in interstitial extracellular matrix composition are associated with rejection and cyclosporine toxicity in human renal allograft biopsiesC K Abrass
Department of Medicine, University of Washington School of Medicine, and the Veterans Affairs Puget Sound Health Care System, Seattle 98108, USA
Am J Kidney Dis 33:11-20. 1999..normal tubular basement membrane (TBM) contains laminin (LM), collagen IV (containing collagen IV alpha chain 1 [COL4A1] and COL4A2), thrombospondin (TSP), and fibronectin (FN)...
- Vitamin D3 up-regulated protein-1 regulates collagen expression in mesangial cellsTsutomu Kobayashi
Banyu Tsukuba Research Institute and Merck Research Laboratories, Tsukuba, Ibaraki, Japan
Kidney Int 64:1632-42. 2003..However, molecular mechanisms that connect glucose stimulation, oxidative stress, and collagen induction are unknown...
- Expression of X-linked genes in deceased neonates and surviving cloned female pigletsLe Jiang
Department of Animal Science and Center for Regenerative Biology, University of Connecticut, Storrs, Connecticut, USA
Mol Reprod Dev 75:265-73. 2008..V-raf murine sarcoma 3,611 viral oncogene homolog 1 (ARAF1), and one autosomal gene, alpha-1 type IV collagen (COL4A1) in major organs of neonatal deceased and surviving female cloned pigs as well as their age-matched control pigs ..
- Genome-wide analysis of chromosomal alterations in patients with esophageal squamous cell carcinoma exposed to tobacco and betel quid from high-risk area in IndiaIndranil Chattopadhyay
Institute of Pathology, New Delhi 110029, India
Mutat Res 696:130-8. 2010..1), WNT7A (3p25), DLC1 (8p22), LZTS1 (8p22), CDKN2A (9p21), COL4A1 (13q34), CDK8 (13q12) and DCC (18q21.3), are found to be associated with the suppression of tumor...
- Microarray analysis of gene-expression profiles in diffuse large B-cell lymphoma: identification of genes related to disease progressionMieko Nishiu
Department of Pathology, Osaka University Graduate School of Medicine, Suita, Osaka 565 0871, Japan
Jpn J Cancer Res 93:894-901. 2002..Increased expression of MPHOSPH1, RUVBL1, CHN2, PSA and CDC10 genes, and reduced expression of COL1A2, COL4A1, FBLN5, CLECSF6, MIC2, CAV1 and S100A10 genes in the advanced lymphoma group were confirmed by semi-quantitative ..
- Differences in gene expression between wild type and Hoxa1 knockout embryonic stem cells after retinoic acid treatment or leukemia inhibitory factor (LIF) removalEduardo Martinez-Ceballos
Department of Pharmacology, Weill Medical College of Cornell University, New York, New York 10021, USA
J Biol Chem 280:16484-98. 2005..g. M-RAS, Sox17, Cdkn2b, LamA1, Col4a1, Foxa2, Foxq1, Klf5, and Igf2)...
- Opposite effect of corticosteroids and long-acting beta(2)-agonists on serum- and TGF-beta(1)-induced extracellular matrix deposition by primary human lung fibroblastsStephanie Goulet
Department of Research, Pulmonary Cell Research, University Hospital Basel, Basel, Switzerland
J Cell Physiol 210:167-76. 2007..In 5% FCS, corticosteroids increased ECM deposition, involving upregulation of COL4A1 and CTGF mRNA expression...
- Discovery and validation of biomarkers that respond to treatment with brivanib alaninate, a small-molecule VEGFR-2/FGFR-1 antagonistMark Ayers
Clinical Discovery Technology, Pharmaceutical Research Institute, Bristol Myers Squibb Co, Route 206 and Provinceline Road, Princeton, NJ 08450, USA
Cancer Res 67:6899-906. 2007..Tyrosine kinase receptor 1 (Tie-1), collagen type IV alpha1 (Col4a1), complement component 1, q subcomponent receptor 1 (C1qr1), angiotensin receptor-like 1 (Agtrl1), and vascular ..
- Fibrotic response as a distinguishing feature of resistance and susceptibility to pulmonary infection with Mycobacterium tuberculosis in miceJean Francois Marquis
Centre for the Study of Host Resistance, Department of Biochemistry, McGill University, Montreal, Quebec, Canada H3G 1Y6
Infect Immun 76:78-88. 2008..The differential expression of fibrotic response genes (Sparc, Col1a1, Col1a2, Col4a1, and Col4a2) in the infected lungs of the two mouse strains was validated by another microarray platform (..
- The Krüppel-like factor 9 (KLF9) network in HEC-1-A endometrial carcinoma cells suggests the carcinogenic potential of dys-regulated KLF9 expressionFrank A Simmen
Department of Physiology and Biophysics, and the Arkansas Children s Nutrition Center, University of Arkansas for Medical Sciences, Little Rock, Arkansas 72202, USA
Reprod Biol Endocrinol 6:41. 2008..This cell line provides a unique model for identifying KLF9 downstream gene targets and signaling pathways...
- Diabetic kidney lesions of GIPRdn transgenic mice: podocyte hypertrophy and thickening of the GBM precede glomerular hypertrophy and glomerulosclerosisNadja Herbach
Institute of Veterinary Pathology, Veterinaerstr 13, 80539 Munich, Germany
Am J Physiol Renal Physiol 296:F819-29. 2009..Real-time PCR demonstrated increased glomerular expression of Col4a1, Fn1, and Tgfb1...
- Studies of granulosa cell maturation in dominant and subordinate bovine follicles: novel extracellular matrix focimatrix is co-ordinately regulated with cholesterol side-chain cleavage CYP11A1H F Irving-Rodgers
Research Centre for Reproductive Health, Discipline of Obstetrics, University of Adelaide, Adelaide, South Australia 5005, Australia
Reproduction 137:825-34. 2009..in size there were no significant differences in expression of focimatrix components collagen type IV alpha-1 (COL4A1), laminin beta-2, nidogen 1 (NID1), and perlecan (HSPG2) or the volume density of NID1 and -2 and HSPG2...
- Complete primary structure of the alpha 1-chain of human basement membrane (type IV) collagenR Soininen
Biocenter and Department of Biochemistry, University of Oulu, Finland
FEBS Lett 225:188-94. 1987..The alpha 1(IV)-chain contains four cysteine residues in the triple-helical domain, four cysteines in the 15-residue long noncollagenous sequence at the amino-terminus and 12 cysteines in the carboxy-terminal NC-domain...
- Radiation hybrid mapping of the canine type I and type IV collagen gene subfamiliesJennifer K Lowe
Department of Molecular and Cellular Biology, University of Washington, Seattle, WA 98115, USA
Funct Integr Genomics 3:112-6. 2003..The col1A1 gene was mapped to chromosome 9, col1A2 was mapped to chromosome 14, col4A1 and col4A2 were mapped to chromosome 22 and col4A3 and col4A4 were mapped to chromosome 25...
- Type IV collagen is transcriptionally regulated by Smad1 under advanced glycation end product (AGE) stimulationHideharu Abe
Department of Clinical Biology and Medicine, University of Tokushima, Tokushima 770 8503, Japan
J Biol Chem 279:14201-6. 2004....
- Col4a1 mutation in mice causes defects in vascular function and low blood pressure associated with reduced red blood cell volumeTom Van Agtmael
Faculty of Biomedical and Life Sciences, University of Glasgow, University Avenue, Glasgow G12 8QQ, UK
Hum Mol Genet 19:1119-28. 2010Collagen type IV is the major structural component of the basement membrane and COL4A1 mutations cause adult small vessel disease, familial porencephaly and hereditary angiopathy with nephropathy aneurysm and cramps (HANAC) syndrome...
- Collagen IV-derived peptide binds hydrophobic cavity of Legionella pneumophila Mip and interferes with bacterial epithelial transmigrationCan Unal
Institut fur Mikrobiologie, Technische Universitat Braunschweig, 38106 Braunschweig, Germany
Cell Microbiol 13:1558-72. 2011....
- MiR-21 is enriched in the RNA-induced silencing complex and targets COL4A1 in human granulosa cell linesYuri Mase
Department of Obstetrics and Gynecology, Nippon Medical School, Tokyo, Japan
Reprod Sci 19:1030-40. 2012..We identified COL4A1 mRNA as a miR-21 target in the GC lines...
- Intracranial Hemorrhage and Tortuosity of Veins Detected on Susceptibility-weighted Imaging of a Child with a Type IV Collagen α1 Mutation and SchizencephalyTetsu Niwa
Department of Radiology, Tokai University School of Medicine
Magn Reson Med Sci 14:223-6. 2015Type IV collagen α1 (COL4A1) forms a sheet-like network beneath the endothelium and surrounding smooth muscle cells. Associations of mutations in COL4A1 with porencephaly, schizencephaly, and intracranial hemorrhages are known...
- Attenuation of lysyl oxidase and collagen gene expression in keratoconus patient corneal epithelium corresponds to disease severityRohit Shetty
Cornea Department, Narayana Nethralaya, Bangalore, India
Mol Vis 21:12-25. 2015..The primary goal of this study was to evaluate the importance of these genes in the progression of KC...
- HANAC Syndrome Col4a1 Mutation Causes Neonate Glomerular Hyperpermeability and Adult Glomerulocystic Kidney DiseaseZhiyong Chen
Institut National de la Sante et de la Recherche Medicale, Unité Mixte de Recherche UMR S 1155, Paris, France
J Am Soc Nephrol 27:1042-54. 2016..aneurysms, and muscle cramps (HANAC) syndrome is an autosomal dominant syndrome caused by mutations in COL4A1 that encodes the α1 chain of collagen IV, a major component of basement membranes...
- Identification of a PEAK1/ZEB1 signaling axis during TGFβ/fibronectin-induced EMT in breast cancerMegan Agajanian
Department of Biology, California State University Northridge, Northridge, CA 91330, USA
Biochem Biophys Res Commun 465:606-12. 2015..interactome and Babelomics-derived gene ontologies for a novel gene set including PEAK1, CRK, ZEB1, IL11 and COL4A1 enabled us to hypothesize that PEAK1 may be regulating TGFβ-induced EMT via its interaction with or regulation of ..
- Association of COL4A1 gene polymorphisms with cerebral palsy in a Chinese Han populationD Bi
Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China
Clin Genet 90:149-55. 2016..b>COL4A1 is the most abundant component of type IV collagen in the BM, and COL4A1 variants can present with variable ..
- A severe pulmonary complication in a patient with COL4A1-related disorder: A case reportYoshiichi Abe
Department of Pediatrics, Oita University Faculty of Medicine, Yufu City, Oita, Japan
Eur J Med Genet . 2016Patients with COL4A1 mutation-related disorders demonstrate a variety of disease phenotypes, which caused by small-vessel dysfunction in the brain, eyes, kidney, muscle, or heart...
- Tissue- and developmental stage-specific activation of alpha 5 and alpha 6(IV) collagen expression in the upper gastrointestinal tract of transgenic miceChristine Herzog
Renal Division, Department of Medicine, Brigham and Women s Hospital, Harvard Medical School, Boston, MA 02115, USA
Biochem Biophys Res Commun 311:553-60. 2003..for the alpha chains of basement membrane type IV collagen, arranged head-to-head in transcription units COL4A1-COL4A2, COL4A3-COL4A4, and COL4A5-COL4A6, and implicated broadly in genetic diseases...
- Type IV collagen alpha-chain composition in synovial lining from trauma patients and patients with rheumatoid arthritisP Poduval
Department of Medicine, University of Helsinki, Helsinki, Finland
Arthritis Rheum 56:3959-67. 2007..We undertook this study to determine the alpha-chain composition of type IV collagen in normal and arthritic synovial lining, using monoclonal alpha-chain antibodies...
- Meta-analysis of genome-wide association studies in multiethnic Asians identifies two loci for age-related nuclear cataractJiemin Liao
Singapore Eye Research Institute, Singapore National Eye Center, Singapore 168751, Singapore, Department of Ophthalmology
Hum Mol Genet 23:6119-28. 2014..The results offer additional insights into the pathogenesis of nuclear cataract in Asians. ..
- Gene expression profiling of Lucilia sericata larvae extraction/secretion-treated skin woundsErdal Polat
Department of Microbiology and Clinical Microbiology, Cerrahpasa Faculty of Medicine, Istanbul University, Istanbul, Turkey
Gene 550:223-9. 2014..The genes that have the highest fold change (>1000-fold) were Col1a2, Col4a1, Ctsk, Ccl7, Angpt1, Cd40lg, Egf and Itgb5...
- Gain-of-function somatic mutations contribute to inflammation and blood vessel damage that lead to Alzheimer dementia: a hypothesisVincent T Marchesi
Department of Pathology, Yale University School of Medicine, New Haven, Connecticut, USA
FASEB J 30:503-6. 2016..Because heritable autosomal dominant mutations of NLRP3, APP, TREX1, NOTCH3, and Col4A1 are known to provoke inflammatory reactions and damage the brain in a wide variety of diseases, I propose that one ..
- "Fibrous nests" in human hepatocellular carcinoma express a Wnt-induced gene signature associated with poor clinical outcomeRomain Désert
INSERM, UMR991, Liver Metabolisms and Cancer, Rennes, France Université de Rennes 1, F 35043 Rennes, France Electronic address
Int J Biochem Cell Biol 81:195-207. 2016..analysis revealed a gene network including the myofibroblast marker ACTA2, the basement membrane components COL4A1 and LAMC1, the Wnt pathway members FZD1; FZD7; WNT2; LEF1; DKK1 and the Secreted Frizzled Related Proteins (SFRPs) ..
- Isolation of an alpha 1 type-IV collagen cDNA clone using a synthetic oligodeoxynucleotideP Nath
Gene 43:301-4. 1986..1982). Nucleotide sequence data established the identity of our cDNA clone to encode an alpha 1 type IV collagen. This clone contains 270 aa of the helical region and has three interruptions in the Gly-X-Y repeat unit...
- Purification of the sequence-specific transcription factor CTCBF, involved in the control of human collagen IV genes: subunits with homology to Ku antigenE Genersch
Abteilung Bindegewebsforschung, Max Planck Institut fur Biochemie, Martinsried, Germany
EMBO J 14:791-800. 1995The common promoter region of the human collagen type IV genes COL4A1 and COL4A2 comprises a C5TC7 sequence ('CTC box') which is specifically recognized by the recently identified transcription factor CTC box binding factor (CTCBF) ..
- Downregulation of extracellular matrix-related gene clusters during osteogenic differentiation of human bone marrow- and adipose tissue-derived stromal cellsHiroshi Egusa
Jane and Jerry Weintraub Center for Reconstructive Biotechnology, Division of Advanced Prosthodontics, Biomaterials and Hospital Dentistry, UCLA School of Dentistry, Los Angeles, CA, USA
Tissue Eng 13:2589-600. 2007..integrin (INT)-beta3, and TenascinX genes were only downregulated in osteogenic BMSCs, whereas COL1A2, COL3A1, COL4A1, COL5A2, COL15A1, osteopontin, osteonectin, and INT-beta1 genes were only downregulated in osteogenic ASCs...
- Developmental changes in extracellular matrix messenger RNAs in the mouse placenta during the second half of pregnancy: possible factors involved in the regulation of placental extracellular matrix expressionKoji Y Arai
Division of Matrix Biology, Scleroprotein Research Institute, Faculty of Agriculture, Tokyo University of Agriculture and Technology, Fuchu, Tokyo 183 8509, Japan
Biol Reprod 77:923-33. 2007Expression of procollagens (Col1a1/2, Col3a1, Col4a1/2, Col5a1/2) and fibronectin 1 (Fn1) in the mouse fetal placental tissue was examined during the second half of pregnancy...
- Differential expression of focimatrix and steroidogenic enzymes before size deviation during waves of follicular development in bovine ovarian folliclesNadine Matti
Research Centre for Reproductive Health, Discipline of Obstetrics and Gynaecology, Robinson Institute, University of Adelaide, SA, Australia
Mol Cell Endocrinol 321:207-14. 2010..of health or atresia and granulosa cells were harvested for quantitative RT-PCR of focimatrix components [COL4A1 (collagen type IV alpha1), LAMB2 (laminin beta2) and HSPG2 (perlecan)], steroidogenic enzymes [CYP11A1 and CYP19A1]..
- Collagen IV and MMP-9 expression in hypertrophic gingiva during orthodontic treatmentPetra Surlin
Department of Periodontology, University of Medicine and Pharmacy of Craiova, Romania
Rom J Morphol Embryol 53:161-5. 2012....
- Extracellular matrix of adipogenically differentiated mesenchymal stem cells reveals a network of collagen filaments, mostly interwoven by hexagonal structural unitsMujib Ullah
Tissue Engineering Laboratory and Berlin Brandenburg Center for Regenerative Therapies, Dept of Rheumatology and Clinical Immunology, Charite University Medicine Berlin, Chariteplatz 1, 10117 Berlin, Germany Electronic address
Matrix Biol 32:452-65. 2013..molecular machinery of adipogenic ECM, the bioinformatics analysis revealed the upregulated expression of COL4A1, ITGA7, ITGA7, SDC2, ICAM3, ADAMTS9, TIMP4, GPC1, GPC4 and downregulated expression of COL14A1, ADAMTS5, TIMP2, ..
- Laminin γ-1 and collagen α-1 (VI) chain are galactose-α-1,3-galactose-bound allergens in beefH Takahashi
Department of Dermatology, Shimane University Faculty of Medicine, Shimane, Japan
Allergy 69:199-207. 2014..However, the proteins responsible for this allergy have not yet been identified. This study aimed to identify beef proteins that predominantly react with serum IgE in Japanese patients with beef allergy...
- Allelic heterogeneity contributes to variability in ocular dysgenesis, myopathy and brain malformations caused by Col4a1 and Col4a2 mutationsDebbie S Kuo
Department of Ophthalmology and
Hum Mol Genet 23:1709-22. 2014Collagen type IV alpha 1 and 2 (COL4A1 and COL4A2) are present in nearly all basement membranes...
- Chronic cardiovascular disease-associated gene network analysis in human umbilical vein endothelial cells exposed to 2,3,7,8-tetrachlorodibenzo-p-dioxinYu Yu
Key Laboratory of Food Safety Research, Institute for Nutritional Sciences, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, 294 Taiyuan Road, Shanghai, 200031, China
Cardiovasc Toxicol 15:157-71. 2015..In addition, the transcripts of Homo sapiens collagen, type IV, alpha 1 (COL4A1), and isoforms that trigger the MI pathway were up-regulated after TCDD exposure...
- Adult-onset genetic leukoencephalopathies. Focus on the more recently defined formsI Di Donato
Department of Medicine, Surgery and Neuroscience, University of Siena, Italy
Curr Mol Med . 2014..CADASIL), cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL), COL4A1-related leukoencephalopathy, retinal vasculopathy with cerebral leukodystrophy (RVCL), and polycystic ..
- MOLECULAR EPIDEMIOLOGY OF LUNG CANCERChu Chen; Fiscal Year: 2010..g. Rosaceae fruits and Cruciferae vegetables), and food-derived nutrients (e.g. carotenoids, vitamin C, and vitamin E). ..
- Genetically testing interactions of ER and oxidative stresses in retinal diseaseDouglas Gould; Fiscal Year: 2013DESCRIPTION (provided by applicant): Mutation of the type IV collagen alpha 1 gene (Col4a1) gene cause retinal phenotypes in mice that resemble age-related macular degeneration (AMD)...
- Douglas Gould; Fiscal Year: 2014DESCRIPTION (provided by applicant): Mutations of the type IV collagen alpha 1 gene (Col4a1) cause highly penetrant ocular anterior segment dysgenesis (ASD) and elevated intraocular pressure in mice...
- TRANSCRIPTIONAL REGULATION OF COLLAGEN IV GENESShizuko Tanaka; Fiscal Year: 1999..this objective with the identification of several transcriptional enhancers of the mouse collagen IV genes in the COL4a1 first intron and in the COL4a2 third intron. One of the enhancers (0...
- LAMININ B2 AND CONJUNCTIVAL EPITHELIAL PHENOTYPEMichelle Kurpakus Wheater; Fiscal Year: 2002..This information may be applied to the more successful management of human ocular trauma and disease. ..
- GLOMERULAR LAMININS: STRUCTURE AND FUNCTIONChristine Abrass; Fiscal Year: 2003....
- THE PHYSIOLOGY AND METABOLISM OF VITAMIN DRajiv Kumar; Fiscal Year: 2003..Results of this investigation could lead to a better understanding of the pathogenesis of bone diseases and the formulation of new therapeutic strategies in disorders such as hyperparathyroidism and osteoporosis. ..
- BREAST CANCER AND GENE POLYMORPHISMS IN CHINESE WOMENChu Chen; Fiscal Year: 2003..Our ultimate goal is to provide information to identify women at high risk of breast cancer, and to aid in the formulation of prevention strategies for these women. ..
- THE STRUCTURE OF CALBINDIN-D28KRajiv Kumar; Fiscal Year: 2004..These findings will potentially be of significance in the understanding of neurodegenerative disorders, cerebellar function and long-term hippocampal potentiation. ..
- EXPRESSION AND STRUCTURE OF THE CALCIUM SENSING RECEPTORRajiv Kumar; Fiscal Year: 2007..Furthermore, this information will serve as the basis for more extensive experiments involving the structure of the full-length receptor. [unreadable] [unreadable]..
- Molecular Epidemiology of Endometrial CancerChu Chen; Fiscal Year: 2007..Efforts will also be devoted to generating risk indices through statistical modeling that integrate potential effects of genetic variants in the estrogen metabolism pathway and/or DNA repair pathways. ..
- Hyperoxaluria and Nephrolithiasis After Gastric Bypass Surgery for ObesityRajiv Kumar; Fiscal Year: 2008..Finally, we will study why these complications occur and we will develop ways in which to prevent kidney stones and loss of kidney function after gastric bypass surgery. [unreadable] [unreadable] [unreadable]..
- Molecular Mechanisms of Mesangial SclerosisChristine Abrass; Fiscal Year: 2009..Understanding transcriptional control of LN isoform expression will add new insights into the role that LN plays in normal glomerulogenesis and that becomes disordered in glomerular disease. ..
- REGULATIOIN OF RENAL PHOSPHATE EXCRETION AND VITAMIN D METABOLISM BY FGF 7Rajiv Kumar; Fiscal Year: 2010..The interaction between the FGF 7 and other PTNs will be clarified. Such information will significantly enhance our knowledge of mineralization processes and Pi homeostasis. ..
- ORAL CANCER: MOLECULAR PROFILES & CLINICAL OUTCOMESChu Chen; Fiscal Year: 2010..HPV plays an important etiologic role in some oropharyngeal cancers, we plan to determine and incorporate HPV genotypes in the analyses and interpretation of the study findings. ..
- Biology of a Novel Phosphaturic Protein - sFRP-4Rajiv Kumar; Fiscal Year: 2007..Our findings will have important implications with respect to Pi homeostasis, bone mineralization in mammals and humans, and the regulation of ion transport through Wnt signaling in the kidney. ..