Genomes and Genes
Gene Symbol: COL4A1
Description: collagen, type IV, alpha 1
Alias: BSVD, COL4A1 NC1 domain, arresten, collagen IV, alpha-1 polypeptide, collagen alpha-1(IV) chain, collagen of basement membrane, alpha-1 chain
Publications153 found, 100 shown here
- Appearance and persistence of fibronectin in cartilage. Specific interaction of fibronectin with collagen type IIT T Glant
Histochemistry 82:149-58. 1985..Fibronectin was localized only in the pericellular ring of intact human articular cartilage using monoclonal antibodies with the biotin-avidin system...
- 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...
- Sequence variants in COL4A1 and COL4A2 genes in Ecuadorian families with keratoconusJustyna A Karolak
Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland
Mol Vis 17:827-43. 2011..The purpose of this study was to evaluate role of the collagen genes collagen type IV, alpha-1 (COL4A1) and collagen type IV, alpha-2 (COL4A2) in KTCN in Ecuadorian families.
- 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...
- 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...
- 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...
- 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 ..
- 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...
- 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.
- 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 ..
- 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...
- 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...
- 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 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...
- 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)...
- 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...
- 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...
- 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...
- 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...
- 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-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.
- 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...
- 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...
- 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 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...
- 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...
- 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...
- 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...
- 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)...
- 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...
- 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) ..
- 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 ..
- 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 ..
- 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 ..
- 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]..
- 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...
- 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)...
- 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...
- 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...
- 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 (..
- 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...
- 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...
- 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...
- Recognizable phenotypes associated with intracranial calcificationJohn H Livingston
Department of Paediatric Neurology, Leeds General Infirmary, Leeds, UK
Dev Med Child Neurol 55:46-57. 2013....
- [Arresten expressed in vivo suppresses the growth of SGC-7901 tumor xenografts in nude mice]Can Rong Lu
Department of Hepatobiliary Surgery, Chinese People s Liberation Army General Hospital, Beijing 100853, China
Zhonghua Wai Ke Za Zhi 43:1391-4. 2005To investigate the inhibitory effect of arresten on the growth of SGC-7901 tumor xenograft nude mice model with the localized expression of arresten.
- Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiencyRobin Lemmens
Laboratory of Neurobiology, Vesalius Research Center, VIB, Leuven, Belgium
Hum Mol Genet 22:391-7. 2013Mutations in COL4A1 have been identified in families with hereditary small vessel disease of the brain presumably due to a dominant-negative mechanism...
- Gene expression profiling for mechanistic understanding of cellular aggregation in mammalian cell perfusion culturesMeile Liu
Cell Culture Development, Global Biological Development, Bayer HealthCare, 800 Dwight Way, Berkeley, California 94710, USA
Biotechnol Bioeng 110:483-90. 2013..Of the 84 genes in the ECM pathway, four (COL1A1, COL4A1, THBS2, and VCAN) were consistently up-regulated in cell line A while two (NCAM1 and THBS1) were consistently down-..
- 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).
- The extracellular matrix is a novel attribute of endothelial progenitors and of hypoxic mature endothelial cellsSravanti Kusuma
Department of Chemical and Biomolecular Engineering, Johns Hopkins Physical Sciences Oncology Center, Johns Hopkins University, Baltimore, Maryland, USA
FASEB J 26:4925-36. 2012..Collectively, we suggest that ECM deposition and assembly by ECs is dependent on maturation stage and oxygen supply and that these findings can be harnessed to advance engineered vascular therapeutics...
- Molecular basis of young ischemic strokeAnna Bersano
UO Malattie Cerebrovascolari, Fondazione IRCCS Istituto Neurologico C Besta, Via Celoria 23, 20135, Milano, Italy
Curr Med Chem 20:3818-39. 2013..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 ..
- The inhibitory effects of arresten protein on tumor formationYi Lv
Department of Health Toxicology, School of Public Health in Shanxi Medical University, Taiyuan 030001, China
Chin Med Sci J 27:11-7. 2012To examine the inhibitory effects of recombinant purified arresten on tumor formation.
- Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic populationAnthony G Comuzzie
Department of Genetics, Texas Biomedical Research Institute, San Antonio, Texas, USA
PLoS ONE 7:e51954. 2012..PCSK2, ARHGAP11A, CHRNA3); and 3) revealed novel genes with unknown function in obesity pathogenesis (MATK, COL4A1). Salient findings include a nonsynonymous SNP (rs1056513) in INADL (p = 1...
- Src kinase regulates metalloproteinase-9 secretion induced by type IV collagen in MCF-7 human breast cancer cellsPedro Cortes-Reynosa
Departamento de Biologia Celular Cinvestav IPN, Mexico, DF 07360, Mexico
Matrix Biol 27:220-31. 2008..In contrast, MMP-9 expression was not up-regulated by treatment with Col-IV. These results demonstrate that Col-IV regulates the secretion of MMP-9 via a Src and FAK dependent pathway in MCF-7 cells...
- Thrombin down-regulates the TGF-beta-mediated synthesis of collagen and fibronectin by human proximal tubule epithelial cells through the EPCR-dependent activation of PAR-1Jong Sup Bae
Department of Herbal Pharmaceutical Engineering, College of Herbal Bio Industry, Daegu Haany University, Gyeongsangbuk do, Republic of Korea
J Cell Physiol 225:233-9. 2010..These results suggest a possible protective role for EPCR in acute kidney injury...
- Differences in collagen expression in cumulus cells after exposure to highly purified menotropin or recombinant follicle-stimulating hormone in a mouse follicle culture modelTom Adriaenssens
Vrije Universiteit Brussel, Brussels, Belgium
Biol Reprod 80:1015-25. 2009..b>Col4a1, Col4a2, and Col6a2 expression levels were analyzed at three time points during antral growth and at a 4-h ..
- 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...
- Promotion of tumor cell migration by extracellular matrix proteins in human pancreatic cancerEduard Ryschich
Department of Surgery, University of Heidelberg, Germany
Pancreas 38:804-10. 2009..The correlation between the aberrant expression of basement membrane proteins and the process of tumor invasion and metastasis has not been fully determined...
- Abnormal expression of collagen IV in lens activates unfolded protein response resulting in cataractZeynep Firtina
Department of Biological Sciences, University of Delaware, Newark, Delaware 19716, USA
J Biol Chem 284:35872-84. 2009..In Col4a1(+/Deltaex40) mutant mice, the accumulation of mutant chains also caused low levels of UPR activation...
- Antibody blockade of c-fms suppresses the progression of inflammation and injury in early diabetic nephropathy in obese db/db miceA K H Lim
Department of Nephrology, Monash Medical Centre, Clayton, Victoria 3168, Australia
Diabetologia 52:1669-79. 2009..Therefore, we used c-fms blockade as a strategy to selectively target macrophage-mediated injury during the progression of diabetic nephropathy...
- Collagen mRNA levels changes during colorectal cancer carcinogenesisHanne Skovbjerg
Medical Department, Amager Hospital, Copenhagen S, Denmark
BMC Cancer 9:136. 2009..In the present study we aimed to quantitatively determine the mRNA levels of type IV collagen (alpha1/alpha 4/alpha 6) and type VII collagen (alpha1) during colorectal cancer carcinogenesis...
- [Hereditary angiopathy with nephropathy, aneurysms and muscle cramps (HANAC): a new basement membrane-disease associated with mutations of the COL4A1 gene]Pierre Ronco
Néphrologie et Dialyses, Unité INSERM UMR S 702, UPMC, Hopital Tenon, Paris
Bull Acad Natl Med 192:971-84; discussion 984-6. 2008..hemorrhage without hypertension, and retinal arteriolar tortuosity have been linked to mutations in the COL4A1 gene, which encodes the alpha1 chain of type IV collagen, the main constituent of basement membranes...
- [Expression of biologically active recombinant arresten in Nicotiana tabacum]Hongmin Li
School of Life Science, Northwest University, Xi an 710069, China
Sheng Wu Gong Cheng Xue Bao 24:1520-5. 2008In this report, the biological activity of the recombinant Arresten expressed in Nicotiana tabacum was studied...
- [Inhibitory effects of transfection of arresten gene on liver metastasis from colorectal cancer in nude mice]Miao yun Long
Department of General Surgery, The Second Affiliated Hospital of Sun Yat sen University, Guangzhou, Guangdong, 510120, P R China
Ai Zheng 27:1039-43. 2008..Above 50% colorecal cancer patients have liver metastasis. This study was to investigate the effect of transfection of arresten gene on liver metastasis from human colorectal cancer (LoVo) xenografts in nude mice.
- Genetics of ischaemic stroke; single gene disordersEnrico Flossmann
Stroke Prevention Research Unit, University Department of Clinical Neurology, Radcliffe Infirmary, Oxford, UK
Int J Stroke 1:131-9. 2006..g. cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy and the collagen COL4A1 mutation), disorders increasing the thrombogenic potential of the heart through affecting the myocardium or the ..
- Hoxa1 is required for the retinoic acid-induced differentiation of embryonic stem cells into neuronsEduardo Martinez-Ceballos
Department of Pharmacology, Weill Cornell Medical College, New York, New York 10065, USA
J Neurosci Res 86:2809-19. 2008..e., Sox17, Col4a1) than wild type (Wt) cells...
- A comprehensive survey of the laminins and collagens type IV expressed in mouse Leydig cells and their regulation by LH/hCGSéverine Mazaud Guittot
INSERM U418, UCBL1, UMR INRA 1245, Hopital Debrousse, 29 rue Soeur Bouvier, 69322 Lyon cedex 05, France
Reproduction 135:479-88. 2008..Here, we examine the occurrence of the 11 laminin subunits and the 6 alpha chains of collagen IV (COL4A1-6) by RT-PCR in Leydig cells cultured with or without LH/hCG...
- Drosophila basement membrane collagen col4a1 mutations cause severe myopathyIldikó Kelemen-Valkony
Department of Genetics, University of Szeged, Kozepfasor 52, H 6726 Szeged, Hungary
Matrix Biol 31:29-37. 2012Recent data from clinical and mammalian genetic studies indicate that COL4A1 mutations manifest with basement membrane defects that result in muscle weakness, cramps, contractures, dystrophy and atrophy...
- Do mutations in COL4A1 or COL4A2 cause thin basement membrane nephropathy (TBMN)?Ke Wei Zhang
Department of Medicine, Austin Health and Northern Health, The Northern Hospital, The University of Melbourne, Epping, Vic, 3076, Australia
Pediatr Nephrol 22:645-51. 2007..but mutations in the genes for other COL4A isoforms also result in thinned membranes in humans (COL4A5) and mice (COL4A1). This study examined whether COL4A1/COL4A2 represented a further genetic locus for TBMN...
- Restricted homology between human alpha 1 type IV and other procollagen chainsJ M Brinker
Proc Natl Acad Sci U S A 82:3649-53. 1985..Such similarities in the different chains may define functional domains conserved throughout evolution...
- Structural organization of the gene for the alpha 1 chain of human type IV collagenR Soininen
Department of Biochemistry, University of Oulu, Finland
J Biol Chem 264:13565-71. 1989..The results demonstrate that the human alpha 1(IV) collagen gene has a structure distinctly different from the genes for fibrillar collagens and also that it is considerably larger than any collagen gene characterized to date...
- The pro alpha 1 (IV) collagen gene is linked to the D13S3 locus at the distal end of human chromosome 13qA M Bowcock
Department of Genetics, Stanford University, CA 94305
Cytogenet Cell Genet 45:234-6. 1987
- Interstitial collagens I, III, and VI sequester and modulate the multifunctional cytokine oncostatin MRajan Somasundaram
Medizinische Klinik I Gastroenterology Hepatology, Klinikum Benjamin Franklin, Freie Universitat Berlin, Hindenbergdamm 30, 12280 Berlin, Germany
J Biol Chem 277:3242-6. 2002..This interaction could be exploited for devising collagenous peptide-antagonists that modulate OSM bioactivity in tumor growth and fibrotic disorders like rheumatoid arthritis and hepatic fibrosis...
- Binding of nidogen and the laminin-nidogen complex to basement membrane collagen type IVM Aumailley
Max Planck Institut fur Biochemie, Martinsried, Federal Republic of Germany
Eur J Biochem 184:241-8. 1989..A more diverse collagen-IV-binding pattern was observed for the laminin nidogen complex, whereby interactions may involve both nidogen and short-arm structures of laminin...
- Transforming growth factor-beta and p-21: multiple molecular targets of decorin-mediated suppression of neoplastic growthM Stander
Department of Neurology, University of Tubingen, Medical School, Germany
Cell Tissue Res 296:221-7. 1999..By virtue of its growth regulatory and immunomodulatory properties, decorin promises to become a novel target for the experimental therapy of human cancers...
- Completion of the amino acid sequence of the alpha 1 chain of human basement membrane collagen (type IV) reveals 21 non-triplet interruptions located within the collagenous domainD Brazel
Max Planck Institut fur Biochemie, Martinsried bei Munchen, Federal Republic of Germany
Eur J Biochem 168:529-36. 1987..The amino-terminal half of the alpha 1(IV) chain contains 8 cysteine residues involved in intramolecular and intermolecular cross-links. The entire triple-helical domain of alpha 1(IV) is interrupted by 21 non-triplet regions...
- Ultrastructural, physiological, and molecular defects in the inner ear of a gene-knockout mouse model for autosomal Alport syndromeD Cosgrove
Boys Town National Research Hospital, Omaha, NE 68131, USA
Hear Res 121:84-98. 1998..Expression of the COL4A1 and COL4A2 chains was unchanged in the mutant...
- Binding of mouse and human fibulin-2 to extracellular matrix ligandsT Sasaki
Max Planck Institut fur Biochemie, Martinsried, Federal Republic of Germany
J Mol Biol 254:892-9. 1995..This indicated multifunctional binding properties for fibulin-2 and several alternative routes for its integration into basement membranes and other extracellular structures...
- Changes in the distribution of integrins and their basement membrane ligands during development of human thyroid follicular epitheliumJ Lohi
Department of Anatomy, University of Helsinki, Finland
Histochem J 29:337-45. 1997....
- Interactions of the amino-terminal noncollagenous (NC1) domain of type VII collagen with extracellular matrix components. A potential role in epidermal-dermal adherence in human skinM Chen
Department of Dermatology, Northwestern University Medical School, Chicago, Illinois 60611, USA
J Biol Chem 272:14516-22. 1997..The multiple interactions of NC1 with other extracellular matrix components may support epidermal-dermal adhesion...
- 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). ..
- 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...
- 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. ..
- 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. ..
- 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. ..
- 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 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. ..
- 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]..
- 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. ..
- 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 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. ..
- GLOMERULAR LAMININS: STRUCTURE AND FUNCTIONChristine Abrass; Fiscal Year: 2003....
- 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. ..
- 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. ..