COL4A1

Summary

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
Species: human

Top Publications

  1. ncbi Appearance and persistence of fibronectin in cartilage. Specific interaction of fibronectin with collagen type II
    T T Glant
    Histochemistry 82:149-58. 1985
  2. 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
  3. 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
  4. pmc Sequence variants in COL4A1 and COL4A2 genes in Ecuadorian families with keratoconus
    Justyna A Karolak
    Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland
    Mol Vis 17:827-43. 2011
  5. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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

Detail Information

Publications153 found, 100 shown here

  1. ncbi Appearance and persistence of fibronectin in cartilage. Specific interaction of fibronectin with collagen type II
    T 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...
  2. 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...
  3. 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...
  4. pmc Sequence variants in COL4A1 and COL4A2 genes in Ecuadorian families with keratoconus
    Justyna 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.
  5. 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...
  6. 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...
  7. 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...
  8. 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 ..
  9. 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...
  10. 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...
  11. 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.
  12. 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 ..
  13. 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...
  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. 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...
  16. 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...
  17. 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...
  18. 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...
  19. 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...
  20. 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...
  21. 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...
  22. 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...
  23. 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)...
  24. 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...
  25. 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)...
  26. 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...
  27. 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...
  28. 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, ..
  29. 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...
  30. 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.
  31. 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)...
  32. 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 ..
  33. 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...
  34. 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, ..
  35. 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...
  36. 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...
  37. doi 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...
  38. 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...
  39. 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...
  40. 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.
  41. 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.
  42. 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...
  43. 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...
  44. 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 ..
  45. 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...
  46. 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...
  47. 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...
  48. 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...
  49. 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)...
  50. 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...
  51. 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) ..
  52. 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 ..
  53. 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 ..
  54. 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 ..
  55. 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]..
  56. 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...
  57. 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)...
  58. 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...
  59. 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...
  60. 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 (..
  61. 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...
  62. 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...
  63. 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...
  64. doi Recognizable phenotypes associated with intracranial calcification
    John H Livingston
    Department of Paediatric Neurology, Leeds General Infirmary, Leeds, UK
    Dev Med Child Neurol 55:46-57. 2013
    ....
  65. ncbi [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. 2005
    To investigate the inhibitory effect of arresten on the growth of SGC-7901 tumor xenograft nude mice model with the localized expression of arresten.
  66. pmc Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiency
    Robin Lemmens
    Laboratory of Neurobiology, Vesalius Research Center, VIB, Leuven, Belgium
    Hum Mol Genet 22:391-7. 2013
    Mutations in COL4A1 have been identified in families with hereditary small vessel disease of the brain presumably due to a dominant-negative mechanism...
  67. doi Gene expression profiling for mechanistic understanding of cellular aggregation in mammalian cell perfusion cultures
    Meile 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-..
  68. 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).
  69. pmc The extracellular matrix is a novel attribute of endothelial progenitors and of hypoxic mature endothelial cells
    Sravanti 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...
  70. ncbi Molecular basis of young ischemic stroke
    Anna 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 ..
  71. ncbi The inhibitory effects of arresten protein on tumor formation
    Yi Lv
    Department of Health Toxicology, School of Public Health in Shanxi Medical University, Taiyuan 030001, China
    Chin Med Sci J 27:11-7. 2012
    To examine the inhibitory effects of recombinant purified arresten on tumor formation.
  72. pmc Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population
    Anthony 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...
  73. ncbi Src kinase regulates metalloproteinase-9 secretion induced by type IV collagen in MCF-7 human breast cancer cells
    Pedro 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...
  74. pmc 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-1
    Jong 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...
  75. doi Differences in collagen expression in cumulus cells after exposure to highly purified menotropin or recombinant follicle-stimulating hormone in a mouse follicle culture model
    Tom 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 ..
  76. 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...
  77. doi Promotion of tumor cell migration by extracellular matrix proteins in human pancreatic cancer
    Eduard 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...
  78. pmc Abnormal expression of collagen IV in lens activates unfolded protein response resulting in cataract
    Zeynep 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...
  79. doi Antibody blockade of c-fms suppresses the progression of inflammation and injury in early diabetic nephropathy in obese db/db mice
    A 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...
  80. pmc Collagen mRNA levels changes during colorectal cancer carcinogenesis
    Hanne 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...
  81. ncbi [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...
  82. ncbi [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. 2008
    In this report, the biological activity of the recombinant Arresten expressed in Nicotiana tabacum was studied...
  83. ncbi [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.
  84. doi Genetics of ischaemic stroke; single gene disorders
    Enrico 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 ..
  85. doi Hoxa1 is required for the retinoic acid-induced differentiation of embryonic stem cells into neurons
    Eduardo 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...
  86. doi A comprehensive survey of the laminins and collagens type IV expressed in mouse Leydig cells and their regulation by LH/hCG
    Séverine 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...
  87. doi Drosophila basement membrane collagen col4a1 mutations cause severe myopathy
    Ildikó Kelemen-Valkony
    Department of Genetics, University of Szeged, Kozepfasor 52, H 6726 Szeged, Hungary
    Matrix Biol 31:29-37. 2012
    Recent 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...
  88. ncbi 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...
  89. pmc Restricted homology between human alpha 1 type IV and other procollagen chains
    J 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...
  90. ncbi Structural organization of the gene for the alpha 1 chain of human type IV collagen
    R 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...
  91. ncbi The pro alpha 1 (IV) collagen gene is linked to the D13S3 locus at the distal end of human chromosome 13q
    A M Bowcock
    Department of Genetics, Stanford University, CA 94305
    Cytogenet Cell Genet 45:234-6. 1987
  92. ncbi Interstitial collagens I, III, and VI sequester and modulate the multifunctional cytokine oncostatin M
    Rajan 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...
  93. ncbi Binding of nidogen and the laminin-nidogen complex to basement membrane collagen type IV
    M 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...
  94. ncbi Transforming growth factor-beta and p-21: multiple molecular targets of decorin-mediated suppression of neoplastic growth
    M 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...
  95. ncbi 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 domain
    D 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...
  96. ncbi Ultrastructural, physiological, and molecular defects in the inner ear of a gene-knockout mouse model for autosomal Alport syndrome
    D 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...
  97. ncbi Binding of mouse and human fibulin-2 to extracellular matrix ligands
    T 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...
  98. ncbi Changes in the distribution of integrins and their basement membrane ligands during development of human thyroid follicular epithelium
    J Lohi
    Department of Anatomy, University of Helsinki, Finland
    Histochem J 29:337-45. 1997
    ....
  99. ncbi 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 skin
    M 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...

Research Grants14

  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. 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...
  3. 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. ..
  4. 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. ..
  5. 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. ..
  6. 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]..
  7. 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. ..
  8. 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]..
  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. 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. ..
  11. 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. ..
  12. GLOMERULAR LAMININS: STRUCTURE AND FUNCTION
    Christine Abrass; Fiscal Year: 2003
    ....
  13. 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. ..
  14. 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. ..