Col5a1

Summary

Gene Symbol: Col5a1
Description: collagen, type V, alpha 1
Alias: AI413331, collagen alpha-1(V) chain, alpha1(V) collagen, pro-alpha1(V) collagen, procollagen type V alpha 1
Species: mouse

Top Publications

  1. pmc TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons
    Xavier Caubit
    Aix Marseille Universite, CNRS, IBDM, Marseille, France
    Nat Genet 48:1359-1369. 2016
  2. pmc Temporal and spatial expression of collagens during murine atrioventricular heart valve development and maintenance
    Jacqueline D Peacock
    Department of Molecular and Cellular Pharmacology, Leonard M Miller School of Medicine, University of Miami, Miami, Florida 33136, USA
    Dev Dyn 237:3051-8. 2008
  3. pmc Collagen V localizes to pericellular sites during tendon collagen fibrillogenesis
    Simone M Smith
    Department of Molecular Pharmacology and Physiology, Morsani College of Medicine, University of South Florida, Tampa, FL, USA
    Matrix Biol 33:47-53. 2014
  4. doi α5 and αv integrins cooperate to regulate vascular smooth muscle and neural crest functions in vivo
    Christopher J Turner
    Howard Hughes Medical Institute, Koch Institute for Integrative Cancer Research, Massachusetts Institute of Technology, Cambridge, MA 02139, USA
    Development 142:797-808. 2015
  5. pmc Targeted deletion of collagen V in tendons and ligaments results in a classic Ehlers-Danlos syndrome joint phenotype
    Mei Sun
    Department of Molecular Pharmacology and Physiology, Morsani College of Medicine, University of South Florida, Tampa, Florida
    Am J Pathol 185:1436-47. 2015
  6. pmc Homozygosity and Heterozygosity for Null Col5a2 Alleles Produce Embryonic Lethality and a Novel Classic Ehlers-Danlos Syndrome-Related Phenotype
    Arick C Park
    Department of Cell and Regenerative Biology, University of Wisconsin, Madison, Wisconsin
    Am J Pathol 185:2000-11. 2015
  7. pmc Altered dermal fibroblast behavior in a collagen V haploinsufficient murine model of classic Ehlers-Danlos syndrome
    John DeNigris
    a Department of Molecular Pharmacology and Physiology, Morsani College of Medicine, University of South Florida, Tampa, FL, USA
    Connect Tissue Res 57:1-9. 2016
  8. pmc Twist1 directly regulates genes that promote cell proliferation and migration in developing heart valves
    Mary P Lee
    Division of Molecular Cardiovascular Biology, Cincinnati Children s Hospital Medical Center, Cincinnati, Ohio, United States of America
    PLoS ONE 6:e29758. 2011
  9. pmc Collagen V is a dominant regulator of collagen fibrillogenesis: dysfunctional regulation of structure and function in a corneal-stroma-specific Col5a1-null mouse model
    Mei Sun
    Department of Pathology and Cell Biology, University of South Florida College of Medicine, 12901 Bruce B Downs Blvd, Tampa, FL 33612, USA
    J Cell Sci 124:4096-105. 2011
  10. ncbi Interaction of Smads with collagen types I, III, and V
    Leslie R Ellis
    Department of Molecular, Cellular, and Craniofacial Biology, ULSD, University of Louisville Birth Defects Center, Louisville, KY 40292, USA
    Biochem Biophys Res Commun 310:1117-23. 2003

Research Grants

  1. Collagen type II/IX/XI heteropolymer assembly
    RUSSELL FERNANDES; Fiscal Year: 2007

Scientific Experts

  • Richard J Wenstrup
  • Koji Y Arai
  • Andrew Lumsden
  • Ian Smyth
  • R J Fernandes
  • K Touhata
  • M Kasahara
  • David E Birk
  • Mei Sun
  • Sheila M Adams
  • Hideaki Sumiyoshi
  • Noritaka Matsuo
  • Hidekatsu Yoshioka
  • Daniel S Greenspan
  • Xavier Caubit
  • John DeNigris
  • Joy Lincoln
  • Arick C Park
  • Christopher J Turner
  • Simone M Smith
  • Drew A Roenneburg
  • Manuel Koch
  • Mary P Lee
  • Judith Magenheim
  • Yasuhide Hamada
  • Wenjin Liu
  • Melanie L Dart
  • Yun Feng Wu
  • David Chambers
  • Jane B Florer
  • Katherine E Yutzey
  • Jacqueline D Peacock
  • Shigetaka Yanagisawa
  • Karin Spiess
  • Muriel Roulet
  • Telma M T Zorn
  • Thomas Aberg
  • Kenji Yamaguchi
  • Keiko Sakata-Takatani
  • Mauricio Soto-Suazo
  • Bagavathi Gopalakrishnan
  • Gautam Bhattacharya
  • Shireen Kahai
  • Ahmed Fatmi
  • Leslie R Ellis
  • Alistair N Garratt
  • D S Greenspan
  • Bernard Jacq
  • Kenneth Y Kwan
  • Mehdi Metwaly
  • Eva Rudd
  • Dany Severac
  • Emeric Dubois
  • Erika K Birk
  • Laurence Had-Aissouni
  • Michele Carlier
  • Adrian S Woolf
  • Qingmei Yao
  • Catherine Vincent-Delorme
  • Ying Zhu
  • Marie Pierre Lemaitre
  • Pierre L Roubertoux
  • Lydia Kerkerian-Le Goff
  • Nenad Sestan
  • Fatimetou Abderrehamane
  • Agne Lieden
  • Marwan Shinawi
  • Joris Andrieux
  • Bénédicte Duban
  • Jean François Lemaître
  • Detlef Bockenhauer
  • Paolo Gubellini
  • Pascal Salin
  • Laurent Fasano
  • Jean Marie Cuisset
  • Benjamin R Freedman
  • Denise Crowley
  • Kwabena Badu-Nkansah
  • Brianne K Connizzo
  • Ferris M Pfeiffer
  • Arjan van der Flier
  • Louis J Soslowsky
  • John F Kernien
  • Jeffrey M Davidson
  • Charlotte L Phillips
  • Richard O Hynes
  • Guiyun Zhang
  • Winston W Y Kao
  • Shoujun Chen
  • Yuval Dor

Detail Information

Publications47

  1. pmc TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons
    Xavier Caubit
    Aix Marseille Universite, CNRS, IBDM, Marseille, France
    Nat Genet 48:1359-1369. 2016
    ..These findings highlight essential roles for Tshz3 in CPN development and function, whose alterations can account for ASD in the newly defined TSHZ3 deletion syndrome...
  2. pmc Temporal and spatial expression of collagens during murine atrioventricular heart valve development and maintenance
    Jacqueline D Peacock
    Department of Molecular and Cellular Pharmacology, Leonard M Miller School of Medicine, University of Miami, Miami, Florida 33136, USA
    Dev Dyn 237:3051-8. 2008
    ..Together, these expression data identify patterning of collagen types in developing and maintained heart valves, which likely relate to valve structure and function...
  3. pmc Collagen V localizes to pericellular sites during tendon collagen fibrillogenesis
    Simone M Smith
    Department of Molecular Pharmacology and Physiology, Morsani College of Medicine, University of South Florida, Tampa, FL, USA
    Matrix Biol 33:47-53. 2014
    ..This all points to differential spatial localization of collagen V as a mechanism to optimize its regulatory roles during the cell-surface directed steps in tendon collagen fibril assembly. ..
  4. doi α5 and αv integrins cooperate to regulate vascular smooth muscle and neural crest functions in vivo
    Christopher J Turner
    Howard Hughes Medical Institute, Koch Institute for Integrative Cancer Research, Massachusetts Institute of Technology, Cambridge, MA 02139, USA
    Development 142:797-808. 2015
    ..Analysis of cultured α5/αv-deficient vSMCs suggests that this is achieved, at least in part, through proper assembly of RGD-containing extracellular matrix proteins and the correct incorporation and activation of latent TGF-β. ..
  5. pmc Targeted deletion of collagen V in tendons and ligaments results in a classic Ehlers-Danlos syndrome joint phenotype
    Mei Sun
    Department of Molecular Pharmacology and Physiology, Morsani College of Medicine, University of South Florida, Tampa, Florida
    Am J Pathol 185:1436-47. 2015
    ..A conditional Col5a1(flox/flox) mouse model was bred with Scleraxis-Cre mice to create a targeted tendon and ligament Col5a1-null mouse ..
  6. pmc Homozygosity and Heterozygosity for Null Col5a2 Alleles Produce Embryonic Lethality and a Novel Classic Ehlers-Danlos Syndrome-Related Phenotype
    Arick C Park
    Department of Cell and Regenerative Biology, University of Wisconsin, Madison, Wisconsin
    Am J Pathol 185:2000-11. 2015
    Null alleles for the COL5A1 gene and missense mutations for COL5A1 or the COL5A2 gene underlie cases of classic Ehlers-Danlos syndrome, characterized by fragile, hyperextensible skin and hypermobile joints...
  7. pmc Altered dermal fibroblast behavior in a collagen V haploinsufficient murine model of classic Ehlers-Danlos syndrome
    John DeNigris
    a Department of Molecular Pharmacology and Physiology, Morsani College of Medicine, University of South Florida, Tampa, FL, USA
    Connect Tissue Res 57:1-9. 2016
    ..A haploinsufficient Col5a1(+/-) mouse model of EDS was utilized...
  8. pmc Twist1 directly regulates genes that promote cell proliferation and migration in developing heart valves
    Mary P Lee
    Division of Molecular Cardiovascular Biology, Cincinnati Children s Hospital Medical Center, Cincinnati, Ohio, United States of America
    PLoS ONE 6:e29758. 2011
    ....
  9. pmc Collagen V is a dominant regulator of collagen fibrillogenesis: dysfunctional regulation of structure and function in a corneal-stroma-specific Col5a1-null mouse model
    Mei Sun
    Department of Pathology and Cell Biology, University of South Florida College of Medicine, 12901 Bruce B Downs Blvd, Tampa, FL 33612, USA
    J Cell Sci 124:4096-105. 2011
    ..A conditional mouse model with a mutation in Col5a1 was developed using a Cre-loxP approach...
  10. ncbi Interaction of Smads with collagen types I, III, and V
    Leslie R Ellis
    Department of Molecular, Cellular, and Craniofacial Biology, ULSD, University of Louisville Birth Defects Center, Louisville, KY 40292, USA
    Biochem Biophys Res Commun 310:1117-23. 2003
    ..Moreover, TGFbeta is a potent regulator of collagen synthesis and turnover during mammalian orofacial development. These data thus suggest an important means of feedback regulation of the TGFbeta signaling cascade...
  11. ncbi Chondrogenic potential of mouse calvarial mesenchyme
    Thomas Aberg
    Developmental Biology Programme, Institute of Biotechnology, PO Box 56, FIN 00014, University of Helsinki, Finland
    J Histochem Cytochem 53:653-63. 2005
    ..Only cartilage formed in 4%, and both cartilage and bone formed in 4%. Our study confirms that calvarial mesenchyme, which normally gives rise to intramembranous bone, also has chondrogenic potential...
  12. ncbi A comprehensive study of the spatial and temporal expression of the col5a1 gene in mouse embryos: a clue for understanding collagen V function in developing connective tissues
    Muriel Roulet
    Institut de Biologie et Chimie des Proteines, CNRS UMR 5086, IFR 128 Biosciences Lyon Gerland, Universite Lyon 1, 7 passage du Vercors, 69367, Lyon, Cedex 7, France
    Cell Tissue Res 327:323-32. 2007
    ..At 10.5 dpc, col5a1 expression was found in the heart, dorsal aorta wall, branchial arches, mesonephrotic tubules, and intestinal ..
  13. ncbi ColVa1 and ColXIa1 are required for myocardial morphogenesis and heart valve development
    Joy Lincoln
    Division of Molecular Cardiovascular Biology, Cincinnati Children s Hospital Medical Center, Cincinnati, Ohio 45229, USA
    Dev Dyn 235:3295-305. 2006
    ....
  14. ncbi Distribution of collagen types I, III, and V in pregnant mouse endometrium
    Karin Spiess
    Laboratory of Biology of Reproduction and Extracellular Matrix, Department of Cell and Development Biology, Institute of Biomedical Sciences, University of Sao Paulo, Brazil
    Connect Tissue Res 48:99-108. 2007
    ..These data support previous studies that showed an intense ECM remodeling of the mouse endometrial stroma during the beginning of pregnancy. This outstanding remodeling may be important to stabilize placental anchorage...
  15. pmc Collagen XI chain misassembly in cartilage of the chondrodysplasia (cho) mouse
    Russell J Fernandes
    Departments of Orthopaedics and Sports Medicine, Orthopaedic Research Laboratory, University of Washington, Seattle, WA 98195, USA
    Matrix Biol 26:597-603. 2007
    ....
  16. 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...
  17. ncbi Murine model of the Ehlers-Danlos syndrome. col5a1 haploinsufficiency disrupts collagen fibril assembly at multiple stages
    Richard J Wenstrup
    Division of Human Genetics, Cincinnati Children s Hospital Research Foundation, Cincinnati, Ohio 45229, USA
    J Biol Chem 281:12888-95. 2006
    ..tissue biogenesis observed in EDS, we analyzed mice heterozygous for a targeted inactivating mutation in col5a1 that caused 50% reduction in col5a1 mRNA and collagen V...
  18. pmc Rhombomere-specific analysis reveals the repertoire of genetic cues expressed across the developing hindbrain
    David Chambers
    MRC Centre for Developmental Neurobiology, King s College London, UK
    Neural Dev 4:6. 2009
    ..Alteration in the normal pattern of Hox cues in this region results in a transformation of cellular identity to match the remaining Hox profile, similar to that observed in Drosophila homeotic transformations...
  19. doi The pro-alpha2(XI) collagen gene is expressed in odontoblasts
    Yasuhide Hamada
    Department of Matrix Medicine, Faculty of Medicine, Oita University, 1 1 Idaigaoka Hasama machi, Yufu City, Oita 879 5593, Japan
    Biochem Biophys Res Commun 392:166-70. 2010
    ..The data suggest a new subtype of the V/XI collagen molecule containing alpha2(XI) chain...
  20. pmc The atypical homeodomain transcription factor Mohawk controls tendon morphogenesis
    Wenjin Liu
    Department of Biomedical Genetics, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA
    Mol Cell Biol 30:4797-807. 2010
    ..In addition to defects in tendon collagen fibrillogenesis, Mkx(-/-) mutant mice exhibited abnormal tendon sheaths. These results identify Mkx as an important regulator of tendon development...
  21. pmc Interleukin-17-dependent autoimmunity to collagen type V in atherosclerosis
    Melanie L Dart
    Department of Pathology and Laboratory Medicine, University of Wisconsin School of Medicine and Public Health, 1300 University Ave, Madison, WI 53706, USA
    Circ Res 107:1106-16. 2010
    ..Because specific induction of α1(V) chains has previously been reported in human atheromas, we postulated involvement of col(V) autoimmunity in atherosclerosis...
  22. doi Sp7/Osterix is involved in the up-regulation of the mouse pro-α1(V) collagen gene (Col5a1) in osteoblastic cells
    Yun Feng Wu
    Department of Matrix Medicine, Oita University, 1 1 Idaigaoka Hasama machi, Yufu, Oita 879 5593, Japan
    Matrix Biol 29:701-6. 2010
    ..Previous studies have identified a Sp1binding site in the proximal promoter region of the mouse Col5a1 gene, but it did not activate or repress this gene in a mouse fibroblast cell line and a human rhabdomyosarcoma ..
  23. pmc Regulation of collagen fibril nucleation and initial fibril assembly involves coordinate interactions with collagens V and XI in developing tendon
    Richard J Wenstrup
    Myriad Genetic Laboratories, Inc, Salt Lake City, Utah 84108, USA
    J Biol Chem 286:20455-65. 2011
    ..This suggested roles for other related molecules, i.e. collagen XI, and compound Col5a1(+/-),Col11a1(+/-) tendons had altered fibril structures, supporting a role for collagen XI...
  24. pmc Ngn3(+) endocrine progenitor cells control the fate and morphogenesis of pancreatic ductal epithelium
    Judith Magenheim
    Department of Developmental Biology and Cancer Research, The Institute for Medical Research Israel Canada, The Hebrew University Hadassah Medical School, Jerusalem 91120, Israel
    Dev Biol 359:26-36. 2011
    ..These results uncover a novel layer of regulation coordinating pancreas morphogenesis and endocrine/exocrine differentiation, and suggest ways to enhance the yield of beta cells from stem cells...
  25. ncbi Schwann cells synthesize type V collagen that contains a novel alpha 4 chain. Molecular cloning, biochemical characterization, and high affinity heparin binding of alpha 4(V) collagen
    M A Chernousov
    Sigfried and Janet Weis Center for Research, Geisinger Clinic, Danville, Pennsylvania 17822, USA
    J Biol Chem 275:28208-15. 2000
    ..The restricted expression and unusual properties of alpha4(V)-containing collagen type V molecules suggest a unique and important role for these molecules in peripheral nerve development...
  26. ncbi Genetic linkage analysis of the Ak1, Col5a1, Epb7.2, Fpgs, Grp78, Pbx3, and Notch1 genes in the region of mouse chromosome 2 homologous to human chromosome 9q
    A Pilz
    Department of Genetics and Biometry, University College London, United Kingdom
    Genomics 21:104-9. 1994
    The genes for adenylate kinase-1 (AK1), folyl polyglutamate synthetase (FPGS), the collagen pro alpha 1(V) chain (COL5A1), erythrocyte protein band 7...
  27. ncbi Mouse alpha 1 type V collagen gene maps to the [A2-B] region of chromosome 2
    M G Mattei
    University of Texas M D Anderson Cancer Center, Houston
    Genomics 16:786-8. 1993
  28. ncbi Linkage of the gene that encodes the alpha 1 chain of type V collagen (COL5A1) to type II Ehlers-Danlos syndrome (EDS II)
    J Loughlin
    University of Oxford, Department of Cellular Science, UK
    Hum Mol Genet 4:1649-51. 1995
    ..Using an intragenic simple sequence repeat polymorphism, we report linkage of the COL5A1 gene, which encodes the alpha 1(V) chain of type V collagen, to EDS II...
  29. ncbi Developmental pattern of expression of the mouse alpha 1 (XI) collagen gene (Col11a1)
    H Yoshioka
    Department of Molecular Biology and Biochemistry, Okayama University Medical School, Japan
    Dev Dyn 204:41-7. 1995
    ..This finding raises the possibility that the alpha 1(XI) chain may participate in the formation of stage- and tissue-specific trimers with distinct functional properties...
  30. ncbi A translocation interrupts the COL5A1 gene in a patient with Ehlers-Danlos syndrome and hypomelanosis of Ito
    H V Toriello
    Cytogenetics Laboratory, Butterworth Hospital, Grand Rapids, Michigan 49503, USA
    Nat Genet 13:361-5. 1996
    ..translocation between chromosome 9 and an X chromosome that disrupts the minor fibrillar collagen type V gene COL5A1 in a patient with both EDS type I and hypomelanosis of Ito...
  31. pmc Chromosomal localization of the proteasome Z subunit gene reveals an ancient chromosomal duplication involving the major histocompatibility complex
    M Kasahara
    Department of Biochemistry, Hokkaido University School of Medicine, Sapporo, Japan
    Proc Natl Acad Sci U S A 93:9096-101. 1996
    ..3 and 9q33-q34). These observations have implications in understanding the genomic organization of the present-day MHC and offer insights into the origin of the MHC...
  32. ncbi Type I, II, III, IV, V, and VI collagens serve as extracellular ligands for the isoforms of platelet-derived growth factor (AA, BB, and AB)
    R Somasundaram
    Abteilung für Gastroenterologie und Hepatologie, Universitatsklinikum Benjamin Franklin, Freie Universitat Berlin, Hindenburgdamm 30, 12200 Berlin, Germany
    J Biol Chem 271:26884-91. 1996
    ..Our data are in accord with previous studies that localized PDGF in the extracellular matrix of fibroproliferative lesions and suggest that binding of PDGF to collagens may localize and modulate its biological activities...
  33. ncbi cDNA sequence and expression of the mouse alpha1(V) collagen gene (Col5a1)
    Y L Wu
    Department of Molecular Biology and Biochemistry, Okayama University Medical School, Okayama 700, Japan
    Biochim Biophys Acta 1397:275-84. 1998
    Several overlapping cDNA clones corresponding to the entire coding sequence of the mouse alpha1(V) collagen gene (Col5a1) were isolated...
  34. ncbi Maturational disturbance of chondrocytes in Cbfa1-deficient mice
    M Inada
    Department of Medicine III, Osaka University Medical School, Japan
    Dev Dyn 214:279-90. 1999
    ..These findings demonstrate that Cbfa1 is an important factor for chondrocyte differentiation...
  35. ncbi The pro-alpha3(V) collagen chain. Complete primary structure, expression domains in adult and developing tissues, and comparison to the structures and expression domains of the other types V and XI procollagen chains
    Y Imamura
    Department of Pathology and Laboratory Medicine, University of Wisconsin, Madison, Wisconsin 53706, USA
    J Biol Chem 275:8749-59. 2000
    ..COL5A3 is mapped to 19p13.2 near a polymorphic marker that should be useful in analyzing linkage with EDS and other disease phenotypes...
  36. ncbi Pro-alpha3(V) collagen chain is expressed in bone and its basic N-terminal peptide adheres to osteosarcoma cells
    Kenji Yamaguchi
    Department of Anatomy, Biology and Medicine, Oita University, Faculty of Medicine, 1 1 Hasama machi, Oita 879 5593, Japan
    Matrix Biol 24:283-94. 2005
    ..Our data suggested that N-terminal globular domain of the pro-alpha3(V) chain influence bone formation of osteoblasts through proteoglycan on the cell surface during development or regeneration...
  37. ncbi Structure of a full-length cDNA clone for the pro-alpha1(V/XI) collagen chain of red seabream
    K Touhata
    Division of Applied Biosciences, Graduate School of Agriculture, Kyoto University, Kyoto 606 8502, Japan
    Biochim Biophys Acta 1517:323-6. 2001
    ..On the other hand, tissue distribution of rsCOL resembles that of type V collagen based on RT-PCR analysis. This is the first report of the cloning of the full-length cDNA of type V/XI collagen alpha1 chain from fish...
  38. ncbi Collagen XXIV, a vertebrate fibrillar collagen with structural features of invertebrate collagens: selective expression in developing cornea and bone
    Manuel Koch
    Institute for Biochemistry II, University of Cologne, Joseph Stelzmann Strasse 52, Cologne 50931, Germany
    J Biol Chem 278:43236-44. 2003
    ..Based on these data, we propose that collagen XXIV is an ancient molecule that may contribute to the regulation of type I collagen fibrillogenesis at specific anatomical locations during fetal development...
  39. ncbi A domain-specific usherin/collagen IV interaction may be required for stable integration into the basement membrane superstructure
    Gautam Bhattacharya
    Usher Syndrome Center, Boys Town National Research Hospital, 555 No 30th Street, Omaha, Nebraska, 68131, USA
    J Cell Sci 117:233-42. 2004
    ..Thus, the domain-specific interaction between usherin and type IV collagen appears essential to usherin stability in vivo, and loss of this interaction may result in Usher pathology in humans...
  40. ncbi Collagen and tenascin-C expression along the migration pathway of mouse primordial germ cells
    Mauricio Soto-Suazo
    Laboratory of Biology of Reproduction, Department of Histology and Embryology, ICB USP, 05508 900 Sao Paulo, Brazil
    Histochem Cell Biol 121:149-53. 2004
    ..Our results complement previous data from our laboratory and contribute to building comprehension of the composition of the mouse PGC migratory pathway extracellular matrix, thereby enhancing understanding of the process...
  41. ncbi Biosynthetic processing of the Pro-alpha1(V)Pro-alpha2(V)Pro-alpha3(V) procollagen heterotrimer
    Bagavathi Gopalakrishnan
    Department of Pathology and Laboratory Medicine, University of Wisconsin, Madison, Wisconsin 53706, USA
    J Biol Chem 279:30904-12. 2004
    ....
  42. ncbi Identification of a functional CBF-binding CCAAT-like motif in the core promoter of the mouse pro-alpha 1(V) collagen gene (Col5a1)
    Keiko Sakata-Takatani
    Department of Anatomy, Biology and Medicine, Faculty of Medicine, Oita University, 1 1 Hasama, Oita 879 5593, Japan
    Matrix Biol 23:87-99. 2004
    ..of the core promoter region to elucidate the transcriptional features of the mouse alpha 1(V) collagen gene (Col5a1)...
  43. pmc The extracellular matrix gene Frem1 is essential for the normal adhesion of the embryonic epidermis
    Ian Smyth
    Medical Research Council Human Genetics Unit, Crewe Road, Edinburgh EH4 2XU, Scotland, United Kingdom
    Proc Natl Acad Sci U S A 101:13560-5. 2004
    ....
  44. ncbi Type V collagen controls the initiation of collagen fibril assembly
    Richard J Wenstrup
    Division of Human Genetics, Cincinnati Children s Hospital Research Foundation, 3333 Burnet Ave, ML 4006, Cincinnati, OH 45229, USA
    J Biol Chem 279:53331-7. 2004
    ..Mouse embryos completely deficient in pro-alpha1(V) chains were created by homologous recombination. The col5a1-/- animals die in early embryogenesis, at approximately embryonic day 10...
  45. ncbi Collagen, type V, alpha1 (COL5A1) is regulated by TGF-beta in osteoblasts
    Shireen Kahai
    Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada
    Matrix Biol 23:445-55. 2004
    ..From the 120 differentially expressed genes, we selected Collagen, type V, alpha1 (COL5A1) {differential expression=+4...
  46. ncbi COL5A1: fine genetic mapping and exclusion as candidate gene in families with nail-patella syndrome, tuberous sclerosis 1, hereditary hemorrhagic telangiectasia, and Ehlers-Danlos Syndrome type II
    D S Greenspan
    Department of Pathology and Laboratory Medicine, University of Wisconsin Medical School, Madison 53706, USA
    Genomics 25:737-9. 1995
    b>COL5A1, the gene for the alpha 1 chain of type V collagen, has been considered a candidate gene for certain diseases based on chromosomal location and/or disease phenotype...
  47. ncbi Chromosomal mapping of osteopenia-associated quantitative trait loci using closely related mouse strains
    H Benes
    Department of Biochemistry and Molecular Biology, University of Arkansas for Medical Sciences, Little Rock, USA
    J Bone Miner Res 15:626-33. 2000
    ..Such recurrent appearance of QTLs, especially in crosses involving distantly-related strains, implies that polymorphism at these loci may be favored by evolution and might underlie variation in peak bone density among humans...

Research Grants1

  1. Collagen type II/IX/XI heteropolymer assembly
    RUSSELL FERNANDES; Fiscal Year: 2007
    ..unreadable] [unreadable] [unreadable]..