COL4A1

Summary

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
Species: human

Top Publications

  1. ncbi Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly
    Douglas B Gould
    Howard Hughes Medical Institute, Bar Harbor, ME 04609, USA
    Science 308:1167-71. 2005
  2. pmc Vascular gene expression patterns are conserved in primary and metastatic brain tumors
    Yang Liu
    Department of Neurosurgery, University of Rochester, 601 Elmwood Avenue, Box 670, Rochester, NY 14642, USA
    J Neurooncol 99:13-24. 2010
  3. pmc Identification of a novel sequence element in the common promoter region of human collagen type IV genes, involved in the regulation of divergent transcription
    G Fischer
    Max Planck Institut fur Biochemie, Abt für Bindegewebsforschung, Martinsried, Germany
    Biochem J 292:687-95. 1993
  4. ncbi Anti-angiogenic cues from vascular basement membrane collagen
    P 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
  5. pmc 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-link
    Manuel E Than
    Max Planck Institut fur Biochemie, Am Klopferspitz 18a, 82152 Martinsried, Germany
    Proc Natl Acad Sci U S A 99:6607-12. 2002
  6. pmc Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly
    G Breedveld
    Department of Clinical Genetics, Erasmus University Medical Centre, PO Box 1738, 3000 DR Rotterdam, Netherlands
    J Med Genet 43:490-5. 2006
  7. pmc Human alpha1 type IV collagen NC1 domain exhibits distinct antiangiogenic activity mediated by alpha1beta1 integrin
    Akulapalli Sudhakar
    Cell Signaling and Angiogenesis Laboratory, Department of Genetics, Boys Town National Research Hospital, Omaha, Nebraska 68131, USA
    J Clin Invest 115:2801-10. 2005
  8. ncbi Neonatal porencephaly and adult stroke related to mutations in collagen IV A1
    Marjo S van der Knaap
    Department of Child Neurology, VU University Medical Center, Amsterdam, The Netherlands
    Ann Neurol 59:504-11. 2006
  9. ncbi COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke
    Igor Sibon
    Centre Hospitalier Universitaire Bordeaux, Fédération des Neurosciences Cliniques, Hopital Pellegrin, Bordeaux, France
    Ann Neurol 62:177-84. 2007
  10. ncbi Clinical and brain MRI follow-up study of a family with COL4A1 mutation
    K 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. 2007

Research Grants

  1. MOLECULAR EPIDEMIOLOGY OF LUNG CANCER
    Chu Chen; Fiscal Year: 2010
  2. Genetically testing interactions of ER and oxidative stresses in retinal disease
    Douglas Gould; Fiscal Year: 2013
  3. Douglas Gould; Fiscal Year: 2014
  4. TRANSCRIPTIONAL REGULATION OF COLLAGEN IV GENES
    Shizuko Tanaka; Fiscal Year: 1999
  5. LAMININ B2 AND CONJUNCTIVAL EPITHELIAL PHENOTYPE
    Michelle Kurpakus Wheater; Fiscal Year: 2002
  6. GLOMERULAR LAMININS: STRUCTURE AND FUNCTION
    Christine Abrass; Fiscal Year: 2003
  7. THE PHYSIOLOGY AND METABOLISM OF VITAMIN D
    Rajiv Kumar; Fiscal Year: 2003
  8. BREAST CANCER AND GENE POLYMORPHISMS IN CHINESE WOMEN
    Chu Chen; Fiscal Year: 2003
  9. THE STRUCTURE OF CALBINDIN-D28K
    Rajiv Kumar; Fiscal Year: 2004
  10. EXPRESSION AND STRUCTURE OF THE CALCIUM SENSING RECEPTOR
    Rajiv Kumar; Fiscal Year: 2007

Detail Information

Publications193 found, 100 shown here

  1. ncbi Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly
    Douglas 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...
  2. pmc Vascular gene expression patterns are conserved in primary and metastatic brain tumors
    Yang 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...
  3. pmc Identification of a novel sequence element in the common promoter region of human collagen type IV genes, involved in the regulation of divergent transcription
    G 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 ..
  4. ncbi Anti-angiogenic cues from vascular basement membrane collagen
    P 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 ..
  5. pmc 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-link
    Manuel 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...
  6. pmc Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly
    G 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...
  7. pmc Human alpha1 type IV collagen NC1 domain exhibits distinct antiangiogenic activity mediated by alpha1beta1 integrin
    Akulapalli Sudhakar
    Cell Signaling and Angiogenesis Laboratory, Department of Genetics, Boys Town National Research Hospital, Omaha, Nebraska 68131, USA
    J Clin Invest 115:2801-10. 2005
    Human 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...
  8. ncbi Neonatal porencephaly and adult stroke related to mutations in collagen IV A1
    Marjo 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...
  9. ncbi COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke
    Igor 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...
  10. ncbi Clinical and brain MRI follow-up study of a family with COL4A1 mutation
    K 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. 2007
    To 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.
  11. ncbi Genetic risk for myocardial infarction determined by polymorphisms of candidate genes in a Japanese population
    Y 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...
  12. ncbi COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps
    Emmanuelle 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...
  13. pmc Characterization of the anti-angiogenic properties of arresten, an alpha1beta1 integrin-dependent collagen-derived tumor suppressor
    Pia 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...
  14. doi COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage
    Linda 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...
  15. doi A dominantly inherited mutation in collagen IV A1 (COL4A1) causing childhood onset stroke without porencephaly
    Siddharth 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...
  16. pmc COL4A1 mutation in preterm intraventricular hemorrhage
    Kaya Bilguvar
    Department of Neurosurgery, Yale University School of Medicine, New Haven, CT 06520, USA
    J Pediatr 155:743-5. 2009
    Intraventricular 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...
  17. pmc Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome
    S Alamowitch
    Tenon Hospital, Stroke Unit, Department of Neurology, Paris, France
    Neurology 73:1873-82. 2009
    b>COL4A1 mutations cause familial porencephaly, infantile hemiplegia, cerebral small vessel disease (CSVD), and hemorrhagic stroke...
  18. pmc COL4A1 is associated with arterial stiffness by genome-wide association scan
    Kirill 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...
  19. doi High glucose down-regulates miR-29a to increase collagen IV production in HK-2 cells
    Bin 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...
  20. doi Ophthalmological features associated with COL4A1 mutations
    Isabelle Coupry
    Laboratoire de Génétique Humaine, Universite Victor Segalen Bordeaux 2, Universite Bordeaux 2, Bordeaux, France
    Arch Ophthalmol 128:483-9. 2010
    To investigate the wide variability of ocular manifestations associated with mutations in the COL4A1 gene that encodes collagen IValpha1.
  21. doi Novel COL4A1 mutations associated with HANAC syndrome: a role for the triple helical CB3[IV] domain
    Emmanuelle 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. 2010
    The COL4A1 gene encodes the α1-chain of type IV collagen, which is ubiquitously expressed in basement membranes...
  22. doi Fetal origin of brain damage in 2 infants with a COL4A1 mutation: fetal and neonatal MRI
    R J Vermeulen
    Department of Child Neurology, VU University Medical Center, Neuroscience Campus Amsterdam, Amsterdam, The Netherlands
    Neuropediatrics 42:1-3. 2011
    Mutations 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...
  23. pmc COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans
    Cassandre 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...
  24. doi COL4A1 mutations associated with a characteristic pattern of intracranial calcification
    J 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...
  25. pmc COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke
    Marion 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. 2012
    Collagen, type IV, alpha 1 (COL4A1) and alpha 2 (COL4A2) form heterotrimers and are abundant components of basement membranes, including those of the cerebral vasculature...
  26. doi p53 inhibits angiogenesis by inducing the production of Arresten
    Sarah 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...
  27. pmc COL4A1 mutations in patients with sporadic late-onset intracerebral hemorrhage
    Yi Chinn Weng
    Department of Ophthalmology, Institute for Human Genetics, UCSF School of Medicine, San Francisco, CA, USA
    Ann Neurol 71:470-7. 2012
    Mutations 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).
  28. doi Childhood presentation of COL4A1 mutations
    Siddharth Shah
    Department of Paediatric Neurology, Bristol Royal Hospital for Children, Bristol, UK
    Dev Med Child Neurol 54:569-74. 2012
    To describe the clinical and radiological features of four new families with a childhood presentation of COL4A1 mutation.
  29. pmc COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets
    Debbie S Kuo
    Department of Ophthalmology, UCSF School of Medicine, San Francisco, CA 94143, USA
    Hum Mol Genet 21:R97-110. 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...
  30. doi Variants of anterior segment dysgenesis and cerebral involvement in a large family with a novel COL4A1 mutation
    Eyvind 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...
  31. ncbi Role of COL4A1 in small-vessel disease and hemorrhagic stroke
    Douglas 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...
  32. ncbi Cloning, purification, and characterization of a non-collagenous anti-angiogenic protein domain from human alpha1 type IV collagen expressed in Sf9 cells
    Chandra 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...
  33. ncbi Control of melanoma cell invasion by type IV collagen
    Sylvie 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...
  34. ncbi Immunohistochemical localization of basement membrane collagens and associated proteins in the murine cochlea
    D 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...
  35. doi Gene expression profiles reflect sclerosing cholangitis activity in abcb4 (-/-) mice
    Karl 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...
  36. pmc Role of miR-29b on the regulation of the extracellular matrix in human trabecular meshwork cells under chronic oxidative stress
    Coralia 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)...
  37. pmc Microarray gene expression profiling of osteoarthritic bone suggests altered bone remodelling, WNT and transforming growth factor-beta/bone morphogenic protein signalling
    Blair 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)...
  38. ncbi Collagen IV is essential for basement membrane stability but dispensable for initiation of its assembly during early development
    Ernst 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...
  39. ncbi Structural and regulatory macromolecules in sex differentiation of gonads
    L 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...
  40. doi Screening and identification of differentially expressed genes from chickens infected with Newcastle disease virus by suppression subtractive hybridization
    Daoliang 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, ..
  41. ncbi Multiple inflammatory-, tissue remodelling- and fibrosis genes are differentially transcribed in the livers of Abcb4 (-/ - ) mice harbouring chronic cholangitis
    Karl 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...
  42. ncbi [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. 2007
    To explore the eukaryotic expression of arresten in CHO cells and to investigate its basic biological activities.
  43. ncbi 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 aneurysms
    Ynte 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)...
  44. ncbi Role of COL4A1 in basement-membrane integrity and cerebral small-vessel disease. The COL4A1 stroke syndrome
    I 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. 2010
    Type 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 ..
  45. ncbi A possible role of thioredoxin interacting protein in the pathogenesis of streptozotocin-induced diabetic nephropathy
    Yasuhiro 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...
  46. ncbi Gene expression profile of oral squamous cell carcinomas from Sri Lankan betel quid users
    Mai 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, ..
  47. ncbi Mannose-binding lectin deficiency attenuates renal changes in a streptozotocin-induced model of type 1 diabetes in mice
    J 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...
  48. ncbi Identification of a new mutation in the alpha4(IV) collagen gene in a family with autosomal dominant Alport syndrome and hypercholesterolaemia
    M 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...
  49. ncbi Dominant mutations of Col4a1 result in basement membrane defects which lead to anterior segment dysgenesis and glomerulopathy
    Tom 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...
  50. pmc Morphological and proteomic analysis of early stage of osteoblast differentiation in osteoblastic progenitor cells
    Dun 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...
  51. pmc Type IV collagen-derived angiogenesis inhibitors
    Thomas 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.
  52. pmc Inhibitory effects of arresten on bFGF-induced proliferation, migration, and matrix metalloproteinase-2 activation in mouse retinal endothelial cells
    Chandra Shekar Boosani
    Department of Genetics, Boys Town National Research Hospital, Omaha, Nebraska 68131, USA
    Curr Eye Res 35:45-55. 2010
    The 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.
  53. ncbi Homologs of genes and anonymous loci on human chromosome 13 map to mouse chromosomes 8 and 14
    T 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...
  54. pmc 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 ..
  55. ncbi Col4a1 mutation causes endoplasmic reticulum stress and genetically modifiable ocular dysgenesis
    Douglas 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...
  56. ncbi COL4A1 mutation in a patient with sporadic, recurrent intracerebral hemorrhage
    Katayoun Vahedi
    AP HP, Service de Neurologie, Hopital Lariboisiere, Paris, France
    Stroke 38:1461-4. 2007
    Recently 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...
  57. ncbi Unique changes in interstitial extracellular matrix composition are associated with rejection and cyclosporine toxicity in human renal allograft biopsies
    C 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)...
  58. ncbi Vitamin D3 up-regulated protein-1 regulates collagen expression in mesangial cells
    Tsutomu 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...
  59. pmc Expression of X-linked genes in deceased neonates and surviving cloned female piglets
    Le 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 ..
  60. doi Genome-wide analysis of chromosomal alterations in patients with esophageal squamous cell carcinoma exposed to tobacco and betel quid from high-risk area in India
    Indranil 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...
  61. ncbi Microarray analysis of gene-expression profiles in diffuse large B-cell lymphoma: identification of genes related to disease progression
    Mieko 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 ..
  62. ncbi Differences in gene expression between wild type and Hoxa1 knockout embryonic stem cells after retinoic acid treatment or leukemia inhibitory factor (LIF) removal
    Eduardo 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)...
  63. ncbi Opposite effect of corticosteroids and long-acting beta(2)-agonists on serum- and TGF-beta(1)-induced extracellular matrix deposition by primary human lung fibroblasts
    Stephanie 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...
  64. ncbi Discovery and validation of biomarkers that respond to treatment with brivanib alaninate, a small-molecule VEGFR-2/FGFR-1 antagonist
    Mark 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 ..
  65. pmc Fibrotic response as a distinguishing feature of resistance and susceptibility to pulmonary infection with Mycobacterium tuberculosis in mice
    Jean 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 (..
  66. pmc The Krüppel-like factor 9 (KLF9) network in HEC-1-A endometrial carcinoma cells suggests the carcinogenic potential of dys-regulated KLF9 expression
    Frank 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...
  67. doi Diabetic kidney lesions of GIPRdn transgenic mice: podocyte hypertrophy and thickening of the GBM precede glomerular hypertrophy and glomerulosclerosis
    Nadja 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...
  68. doi Studies of granulosa cell maturation in dominant and subordinate bovine follicles: novel extracellular matrix focimatrix is co-ordinately regulated with cholesterol side-chain cleavage CYP11A1
    H 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...
  69. ncbi Complete primary structure of the alpha 1-chain of human basement membrane (type IV) collagen
    R 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...
  70. ncbi Radiation hybrid mapping of the canine type I and type IV collagen gene subfamilies
    Jennifer 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...
  71. ncbi Type IV collagen is transcriptionally regulated by Smad1 under advanced glycation end product (AGE) stimulation
    Hideharu Abe
    Department of Clinical Biology and Medicine, University of Tokushima, Tokushima 770 8503, Japan
    J Biol Chem 279:14201-6. 2004
    ....
  72. pmc Col4a1 mutation in mice causes defects in vascular function and low blood pressure associated with reduced red blood cell volume
    Tom Van Agtmael
    Faculty of Biomedical and Life Sciences, University of Glasgow, University Avenue, Glasgow G12 8QQ, UK
    Hum Mol Genet 19:1119-28. 2010
    Collagen 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...
  73. doi Collagen IV-derived peptide binds hydrophobic cavity of Legionella pneumophila Mip and interferes with bacterial epithelial transmigration
    Can Unal
    Institut fur Mikrobiologie, Technische Universitat Braunschweig, 38106 Braunschweig, Germany
    Cell Microbiol 13:1558-72. 2011
    ....
  74. doi MiR-21 is enriched in the RNA-induced silencing complex and targets COL4A1 in human granulosa cell lines
    Yuri 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...
  75. doi Intracranial Hemorrhage and Tortuosity of Veins Detected on Susceptibility-weighted Imaging of a Child with a Type IV Collagen α1 Mutation and Schizencephaly
    Tetsu Niwa
    Department of Radiology, Tokai University School of Medicine
    Magn Reson Med Sci 14:223-6. 2015
    Type 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...
  76. pmc Attenuation of lysyl oxidase and collagen gene expression in keratoconus patient corneal epithelium corresponds to disease severity
    Rohit 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...
  77. pmc HANAC Syndrome Col4a1 Mutation Causes Neonate Glomerular Hyperpermeability and Adult Glomerulocystic Kidney Disease
    Zhiyong 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...
  78. doi Identification of a PEAK1/ZEB1 signaling axis during TGFβ/fibronectin-induced EMT in breast cancer
    Megan 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 ..
  79. doi Association of COL4A1 gene polymorphisms with cerebral palsy in a Chinese Han population
    D 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 ..
  80. doi A severe pulmonary complication in a patient with COL4A1-related disorder: A case report
    Yoshiichi Abe
    Department of Pediatrics, Oita University Faculty of Medicine, Yufu City, Oita, Japan
    Eur J Med Genet . 2016
    Patients 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...
  81. ncbi Tissue- and developmental stage-specific activation of alpha 5 and alpha 6(IV) collagen expression in the upper gastrointestinal tract of transgenic mice
    Christine 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...
  82. ncbi Type IV collagen alpha-chain composition in synovial lining from trauma patients and patients with rheumatoid arthritis
    P 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...
  83. doi Meta-analysis of genome-wide association studies in multiethnic Asians identifies two loci for age-related nuclear cataract
    Jiemin 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. ..
  84. doi Gene expression profiling of Lucilia sericata larvae extraction/secretion-treated skin wounds
    Erdal 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...
  85. doi Gain-of-function somatic mutations contribute to inflammation and blood vessel damage that lead to Alzheimer dementia: a hypothesis
    Vincent 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 ..
  86. doi "Fibrous nests" in human hepatocellular carcinoma express a Wnt-induced gene signature associated with poor clinical outcome
    Romain 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) ..
  87. ncbi Isolation of an alpha 1 type-IV collagen cDNA clone using a synthetic oligodeoxynucleotide
    P 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...
  88. pmc Purification of the sequence-specific transcription factor CTCBF, involved in the control of human collagen IV genes: subunits with homology to Ku antigen
    E Genersch
    Abteilung Bindegewebsforschung, Max Planck Institut fur Biochemie, Martinsried, Germany
    EMBO J 14:791-800. 1995
    The 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) ..
  89. ncbi Downregulation of extracellular matrix-related gene clusters during osteogenic differentiation of human bone marrow- and adipose tissue-derived stromal cells
    Hiroshi 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...
  90. ncbi 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 expression
    Koji 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. 2007
    Expression 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...
  91. doi Differential expression of focimatrix and steroidogenic enzymes before size deviation during waves of follicular development in bovine ovarian follicles
    Nadine 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]..
  92. ncbi Collagen IV and MMP-9 expression in hypertrophic gingiva during orthodontic treatment
    Petra Surlin
    Department of Periodontology, University of Medicine and Pharmacy of Craiova, Romania
    Rom J Morphol Embryol 53:161-5. 2012
    ....
  93. doi Extracellular matrix of adipogenically differentiated mesenchymal stem cells reveals a network of collagen filaments, mostly interwoven by hexagonal structural units
    Mujib 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, ..
  94. doi Laminin γ-1 and collagen α-1 (VI) chain are galactose-α-1,3-galactose-bound allergens in beef
    H 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...
  95. pmc Allelic heterogeneity contributes to variability in ocular dysgenesis, myopathy and brain malformations caused by Col4a1 and Col4a2 mutations
    Debbie S Kuo
    Department of Ophthalmology and
    Hum Mol Genet 23:1709-22. 2014
    Collagen type IV alpha 1 and 2 (COL4A1 and COL4A2) are present in nearly all basement membranes...
  96. doi Chronic cardiovascular disease-associated gene network analysis in human umbilical vein endothelial cells exposed to 2,3,7,8-tetrachlorodibenzo-p-dioxin
    Yu 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...
  97. ncbi Adult-onset genetic leukoencephalopathies. Focus on the more recently defined forms
    I 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 ..

Research Grants16

  1. MOLECULAR EPIDEMIOLOGY OF LUNG CANCER
    Chu Chen; Fiscal Year: 2010
    ..g. Rosaceae fruits and Cruciferae vegetables), and food-derived nutrients (e.g. carotenoids, vitamin C, and vitamin E). ..
  2. Genetically testing interactions of ER and oxidative stresses in retinal disease
    Douglas Gould; Fiscal Year: 2013
    DESCRIPTION (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)...
  3. Douglas Gould; Fiscal Year: 2014
    DESCRIPTION (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...
  4. TRANSCRIPTIONAL REGULATION OF COLLAGEN IV GENES
    Shizuko 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...
  5. LAMININ B2 AND CONJUNCTIVAL EPITHELIAL PHENOTYPE
    Michelle Kurpakus Wheater; Fiscal Year: 2002
    ..This information may be applied to the more successful management of human ocular trauma and disease. ..
  6. GLOMERULAR LAMININS: STRUCTURE AND FUNCTION
    Christine Abrass; Fiscal Year: 2003
    ....
  7. THE PHYSIOLOGY AND METABOLISM OF VITAMIN D
    Rajiv 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. ..
  8. BREAST CANCER AND GENE POLYMORPHISMS IN CHINESE WOMEN
    Chu 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. ..
  9. THE STRUCTURE OF CALBINDIN-D28K
    Rajiv Kumar; Fiscal Year: 2004
    ..These findings will potentially be of significance in the understanding of neurodegenerative disorders, cerebellar function and long-term hippocampal potentiation. ..
  10. EXPRESSION AND STRUCTURE OF THE CALCIUM SENSING RECEPTOR
    Rajiv 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]..
  11. Molecular Epidemiology of Endometrial Cancer
    Chu 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. ..
  12. Hyperoxaluria and Nephrolithiasis After Gastric Bypass Surgery for Obesity
    Rajiv 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]..
  13. Molecular Mechanisms of Mesangial Sclerosis
    Christine 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. ..
  14. REGULATIOIN OF RENAL PHOSPHATE EXCRETION AND VITAMIN D METABOLISM BY FGF 7
    Rajiv 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. ..
  15. ORAL CANCER: MOLECULAR PROFILES & CLINICAL OUTCOMES
    Chu 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. ..
  16. Biology of a Novel Phosphaturic Protein - sFRP-4
    Rajiv 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. ..