Col1a2

Summary

Gene Symbol: Col1a2
Description: collagen, type I, alpha 2
Alias: AA960264, AI325291, Col1a-2, Cola-2, Cola2, oim, collagen alpha-2(I) chain, alpha-2 type I collagen, collagen COL1A2, procollagen, type I, alpha 2
Species: mouse

Top Publications

  1. pmc Defective pro alpha 2(I) collagen synthesis in a recessive mutation in mice: a model of human osteogenesis imperfecta
    S D Chipman
    Bone Metabolism Research Laboratory, Johns Hopkins University School of Medicine, Baltimore, MD 21224
    Proc Natl Acad Sci U S A 90:1701-5. 1993
  2. pmc Bone mineralization in an osteogenesis imperfecta mouse model studied by small-angle x-ray scattering
    P Fratzl
    Ludwig Boltzmann Institute for Osteology, 4th Medical Department, Hanusch Hospital, Vienna, Austria
    J Clin Invest 97:396-402. 1996
  3. ncbi Mineral changes in a mouse model of osteogenesis imperfecta detected by Fourier transform infrared microscopy
    N P Camacho
    Research Division, Hospital for Special Surgery, New York, NY 10211, USA
    Connect Tissue Res 35:259-65. 1996
  4. pmc Collagen II is essential for the removal of the notochord and the formation of intervertebral discs
    A Aszodi
    Department of Experimental Pathology, Lund University, 22185 Lund, Sweden
    J Cell Biol 143:1399-412. 1998
  5. ncbi Regulation of chondrocyte differentiation by Cbfa1
    I S Kim
    Universitäts Kinderklinik Mainz, Langenbeckstrasse 1, 55101, Mainz, Germany
    Mech Dev 80:159-70. 1999
  6. ncbi Oim mice exhibit altered femur and incisor mineral composition and decreased bone mineral density
    C L Phillips
    Department of Biochemistry, University of Missouri Columbia, Columbia, MO 65212, USA
    Bone 27:219-26. 2000
  7. ncbi Age- and genotype-dependence of bone material properties in the osteogenesis imperfecta murine model (oim)
    B Grabner
    Ludwig Boltzmann Institute of Osteology, Fourth Medical Department, Hanusch Hospital and UKH Meidling, Vienna, Austria
    Bone 29:453-7. 2001
  8. ncbi Osteoblastic response to the defective matrix in the osteogenesis imperfecta murine (oim) mouse
    I Kalajzic
    Department of Genetics and Developmental Biology, University of Connecticut Health Center, 263 Farmington Avenue, Farmington, CT 06030, USA
    Endocrinology 143:1594-601. 2002
  9. ncbi The role of the alpha2 chain in the stabilization of the collagen type I heterotrimer: a study of the type I homotrimer in oim mouse tissues
    Christopher A Miles
    Collagen Research Group, Division of Molecular and Cellular Biology, University of Bristol, UK
    J Mol Biol 321:797-805. 2002
  10. ncbi Changes in thermal stability and microunfolding pattern of collagen helix resulting from the loss of alpha2(I) chain in osteogenesis imperfecta murine
    Natalia V Kuznetsova
    National Institute of Child Health and Human Development, NIH, DHHS, Building 9, Room 1E 125, Bethesda, MD 20892, USA
    J Mol Biol 331:191-200. 2003

Scientific Experts

Detail Information

Publications120 found, 100 shown here

  1. pmc Defective pro alpha 2(I) collagen synthesis in a recessive mutation in mice: a model of human osteogenesis imperfecta
    S D Chipman
    Bone Metabolism Research Laboratory, Johns Hopkins University School of Medicine, Baltimore, MD 21224
    Proc Natl Acad Sci U S A 90:1701-5. 1993
    ..We describe a strain of mice with a nonlethal recessively inherited mutation (oim) that results in phenotypic and biochemical features that simulate moderate to severe human OI...
  2. pmc Bone mineralization in an osteogenesis imperfecta mouse model studied by small-angle x-ray scattering
    P Fratzl
    Ludwig Boltzmann Institute for Osteology, 4th Medical Department, Hanusch Hospital, Vienna, Austria
    J Clin Invest 97:396-402. 1996
    We have studied the size and orientation of mineral crystals in cortical bone of oim/oim mice, which are known to produce only alpha 1(I) collagen homotrimers and which may serve as a model for human osteogenesis imperfecta...
  3. ncbi Mineral changes in a mouse model of osteogenesis imperfecta detected by Fourier transform infrared microscopy
    N P Camacho
    Research Division, Hospital for Special Surgery, New York, NY 10211, USA
    Connect Tissue Res 35:259-65. 1996
    ..In the current study, the nature of the mineral in long bones of a mouse model of OI (oim/oim, a mutant which produces an alpha 1(I) collagen homotrimer) was examined by Fourier transform infrared ..
  4. pmc Collagen II is essential for the removal of the notochord and the formation of intervertebral discs
    A Aszodi
    Department of Experimental Pathology, Lund University, 22185 Lund, Sweden
    J Cell Biol 143:1399-412. 1998
    ....
  5. ncbi Regulation of chondrocyte differentiation by Cbfa1
    I S Kim
    Universitäts Kinderklinik Mainz, Langenbeckstrasse 1, 55101, Mainz, Germany
    Mech Dev 80:159-70. 1999
    ..Our studies identify Cbfa1 as a major positive regulator of chondrocyte differentiation...
  6. ncbi Oim mice exhibit altered femur and incisor mineral composition and decreased bone mineral density
    C L Phillips
    Department of Biochemistry, University of Missouri Columbia, Columbia, MO 65212, USA
    Bone 27:219-26. 2000
    ..The oim/oim mouse (homozygous for a null mutation in its COL1A2 gene of type I collagen) fails to synthesize functional pro alpha 2(I) collagen chains, synthesizing only ..
  7. ncbi Age- and genotype-dependence of bone material properties in the osteogenesis imperfecta murine model (oim)
    B Grabner
    Ludwig Boltzmann Institute of Osteology, Fourth Medical Department, Hanusch Hospital and UKH Meidling, Vienna, Austria
    Bone 29:453-7. 2001
    Cortical mineralization of long bones was studied in collagen alpha2(I)-deficient mice (oim) used as a model for human osteogenesis imperfecta...
  8. ncbi Osteoblastic response to the defective matrix in the osteogenesis imperfecta murine (oim) mouse
    I Kalajzic
    Department of Genetics and Developmental Biology, University of Connecticut Health Center, 263 Farmington Avenue, Farmington, CT 06030, USA
    Endocrinology 143:1594-601. 2002
    ..pathophysiology associated with the weakened bone matrix found in a murine model of osteogenesis imperfecta murine (oim)...
  9. ncbi The role of the alpha2 chain in the stabilization of the collagen type I heterotrimer: a study of the type I homotrimer in oim mouse tissues
    Christopher A Miles
    Collagen Research Group, Division of Molecular and Cellular Biology, University of Bristol, UK
    J Mol Biol 321:797-805. 2002
    We have previously reported that the fragility of skin, tendon and bone from the oim mouse is related to a significant reduction in the intermolecular cross-linking...
  10. ncbi Changes in thermal stability and microunfolding pattern of collagen helix resulting from the loss of alpha2(I) chain in osteogenesis imperfecta murine
    Natalia V Kuznetsova
    National Institute of Child Health and Human Development, NIH, DHHS, Building 9, Room 1E 125, Bethesda, MD 20892, USA
    J Mol Biol 331:191-200. 2003
    ..question in more detail using purified tendon collagen from wild-type (alpha1(I)(2)alpha2(I) heterotrimers) and oim (alpha1(I)(3)) mice as well as artificial alpha1(I)(3) homotrimers obtained by refolding of rat-tail-tendon ..
  11. ncbi Properties of collagen in OIM mouse tissues
    T J Sims
    Division of Molecular and Cellular Biology, University of Bristol, Bristol, United Kingdom
    Connect Tissue Res 44:202-5. 2003
    The deletion of the alpha2 chain from type I collagen in the oim mouse model of osteogenesis imperfecta has been shown to result in a significant reduction in the mechanical strength of the tail tendon and bone tissue...
  12. ncbi Identification of a repressor in the first intron of the human alpha2(I) collagen gene (COL1A2)
    Taras T Antoniv
    Laboratory of Genetics and Organogenesis, Research Division of the Hospital for Special Surgery, Weill Medical College of Cornell University, New York, New York 10021, USA
    J Biol Chem 280:35417-23. 2005
    The human and mouse genes that code for the alpha2 chain of collagen I (COL1A2 and Col1a2, respectively) share a common chromatin structure and nearly identical proximal promoter and far upstream enhancer sequences...
  13. ncbi Type I collagen glomerulopathy: postnatal collagen deposition follows glomerular maturation
    A C Brodeur
    1 1Department of Biochemistry, University of Missouri, Columbia, Missouri 65212, USA
    Kidney Int 71:985-93. 2007
    ..Picosirius red staining of kidney sections demonstrates that in comparison to wild-type mice, Col1a2-deficient homozygous and heterozygous mice exhibit abnormal glomerular collagen deposition in a gene dosage-..
  14. ncbi Selective retention and degradation of molecules with a single mutant alpha1(I) chain in the Brtl IV mouse model of OI
    Antonella Forlino
    Department of Biochemistry A Castellani, University of Pavia, via Taramelli 3b, 27100 Pavia, Italy
    Matrix Biol 26:604-14. 2007
    ..Based on these and our previous findings, we argue that the outcome in Brtl IV may be significantly affected by cellular stress and malfunction caused by the retention and degradation of newly synthesized mutant collagen...
  15. pmc Segregation of type I collagen homo- and heterotrimers in fibrils
    Sejin Han
    Section on Physical Biochemistry, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, DHHS, Bethesda, MD 20892, USA
    J Mol Biol 383:122-32. 2008
    ..We argue that the subfibrillar segregation may exacerbate effects of a small fraction of alpha1(I) homotrimers on formation, properties, and remodeling of collagen fibers...
  16. pmc Variable bone fragility associated with an Amish COL1A2 variant and a knock-in mouse model
    Ethan Daley
    Orthopaedic Research Laboratories, Department of Orthopaedic Surgery, University of Michigan, Ann Arbor, MI, USA
    J Bone Miner Res 25:247-61. 2010
    Osteogenesis imperfecta (OI) is a heritable form of bone fragility typically associated with a dominant COL1A1 or COL1A2 mutation...
  17. pmc Fra-2/AP-1 controls bone formation by regulating osteoblast differentiation and collagen production
    Aline Bozec
    Genes, Development, and Disease Group, BBVA Foundation, Cancer Cell Biology Program, Spanish National Cancer Center, E 28029 Madrid, Spain
    J Cell Biol 190:1093-106. 2010
    ..These findings reveal a novel function of Fra-2/AP-1 as a positive regulator of bone and matrix formation in mice and humans...
  18. doi Transplantation of human fetal blood stem cells in the osteogenesis imperfecta mouse leads to improvement in multiscale tissue properties
    Maximilien Vanleene
    Department of Bioengineering, Imperial College, London, UK
    Blood 117:1053-60. 2011
    ..stem/stromal cells engrafted in bones, differentiated into mature osteoblasts, expressed osteocalcin, and produced COL1a2 protein, which is absent in oim mice...
  19. pmc Ultra-structural defects cause low bone matrix stiffness despite high mineralization in osteogenesis imperfecta mice
    Maximilien Vanleene
    Department of Bioengineering, Imperial College London, London, SW7 2AZ, UK
    Bone 50:1317-23. 2012
    ..To address this research gap, we used a mouse model of the disease (oim) to measure these outcomes together in order to propose an underlying mechanism for the changes in properties...
  20. ncbi Altered collagen structure in mouse tail tendon lacking the alpha 2(I) chain
    D J McBride
    Division of Geriatric Medicine and Gerontology, The Johns Hopkins Medical Institutions, Baltimore, MD, USA
    J Mol Biol 270:275-84. 1997
    ..The existence of a mouse model with a Cola-2 gene mutation (termed oim) that results in non-functional pro alpha 2(I) chains presents a unique opportunity to explore changes in collagen ..
  21. ncbi Bone geometry and strength measurements in aging mice with the oim mutation
    D J McBride
    Bone Metabolism Research Laboratory, Division of Geriatric Medicine and Gerontology, The Johns Hopkins Medical Institutions, Baltimore, Maryland 21224, USA
    Calcif Tissue Int 62:172-6. 1998
    Mice with the naturally occurring oim mutation allows investigation of bone pathobiology in the setting of one mutation: a G deletion in the murine Cola-2 gene (exon 52) encoding the proalpha2(I) C-propeptide...
  22. ncbi The material basis for reduced mechanical properties in oim mice bones
    N P Camacho
    Research Division, The Hospital of Special Surgery, New York, New York 10021, USA
    J Bone Miner Res 14:264-72. 1999
    ..The heterozygous and homozygous oim mice (oim/+ and oim/oim) exhibit mild and severe OI phenotypes, respectively, serving as controlled animal models ..
  23. ncbi Use of the Cre/lox recombination system to develop a non-lethal knock-in murine model for osteogenesis imperfecta with an alpha1(I) G349C substitution. Variability in phenotype in BrtlIV mice
    A Forlino
    Heritable Disorders Branch, NICHD, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Biol Chem 274:37923-31. 1999
    ..Alternative splicing involving the stop cassette results in retention of non-collagenous sequences. These mice reproduce the lethal phenotype of similar human mutations and are designated BrtlII...
  24. ncbi A null mutation for tissue inhibitor of metalloproteinases-3 (Timp-3) impairs murine bronchiole branching morphogenesis
    Sean E Gill
    Department of Physiology and Pharmacology, University of Western Ontario, N6A 5C1, London, Ontario, Canada
    Dev Biol 261:313-23. 2003
    ..We propose that the deletion of TIMP-3 disrupts the exquisite TIMP/MMP balance required for proper focal ECM proteolysis, which leads to correct bronchiole branching morphogenesis in the developing mouse lung...
  25. ncbi Sequence analysis of a full-length cDNA for the murine pro alpha 2(I) collagen chain: comparison of the derived primary structure with human pro alpha 2(I) collagen
    C L Phillips
    Department of Medicine, Duke University Medical Center, Durham, North Carolina 27710
    Genomics 13:1345-6. 1992
    ..The X and Y residues show 86% homology between murine and human pro alpha 2(I) collagen triple helices, with no truly nonconservative substitutions...
  26. ncbi Mouse models for extracellular matrix diseases
    A Aszodi
    Max Planck Institut fur Biochemie, Martinsried, Germany
    J Mol Med (Berl) 76:238-52. 1998
    ..This review lists all mouse strains with spontaneous and experimentally induced mutations in ECM genes. The phenotypes of these mice are discussed in comparison with the human diseases...
  27. ncbi The osteocalcin and collagen type I (alpha 1) promoters share common basal regulatory units
    D Goldberg
    Bone and Mineral Research Division, Garvan Institute of Medical Research, St Vincent s Hospital, Sydney, NSW, Australia
    DNA Cell Biol 14:519-28. 1995
    ..The fact that similar units are present in other osteoblast-specific promoters suggests that OSCARE-1-like units may be a common regulator of osteoblast-expressed genes...
  28. ncbi Species-specific regulation of the alpha-2(I) procollagen gene by proximal promoter elements
    Virna D Leaner
    Division of Medical Biochemistry, Institute of Infectious Disease and Molecular Medicine, Faculty of Health Sciences, University of Cape Town, Observatory, South Africa
    IUBMB Life 57:363-70. 2005
    ....
  29. ncbi TGFbeta-mediated FGF signaling is crucial for regulating cranial neural crest cell proliferation during frontal bone development
    Tomoyo Sasaki
    Center for Craniofacial Molecular Biology School of Dentistry University of Southern California, 2250 Alcazar Street, CSA 103, Los Angeles, CA 90033, USA
    Development 133:371-81. 2006
    ....
  30. ncbi Loss of assembly of the main basement membrane collagen, type IV, but not fibril-forming collagens and embryonic death in collagen prolyl 4-hydroxylase I null mice
    Tiina Holster
    Collagen Research Unit, University of Oulu, 90014 Oulu, Finland
    J Biol Chem 282:2512-9. 2007
    ..The primary cause of death of the null embryos was thus most likely an abnormal assembly of collagen IV...
  31. pmc Genetic analysis of the roles of BMP2, BMP4, and BMP7 in limb patterning and skeletogenesis
    Amitabha Bandyopadhyay
    Department of Genetics, Harvard Medical School, Boston, Massachusetts, United States of America
    PLoS Genet 2:e216. 2006
    ..In contrast, we find that the loss of both BMP2 and BMP4 results in a severe impairment of osteogenesis...
  32. 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
    ..Expression of col1a1, col1a2, col2a1, and col3a1 remain high, along with col12a1 in remodeling valves...
  33. doi Pivotal role of connective tissue growth factor in lung fibrosis: MAPK-dependent transcriptional activation of type I collagen
    Markella Ponticos
    Royal Free and University College Medical School, London, UK
    Arthritis Rheum 60:2142-55. 2009
    ..expression of type I collagen in bleomycin-induced lung fibrosis, and to delineate the mechanisms of action underlying the effects of CTGF on Col1a2 (collagen gene type I alpha2) in this mouse model and in human pulmonary fibroblasts.
  34. doi Negligible contribution of bone marrow-derived cells to collagen production during hepatic fibrogenesis in mice
    Reiichi Higashiyama
    Research Unit for Tissue Remodeling and Regeneration, Tokai University School of Medicine, Isehara, Kanagawa 259 1193, Japan
    Gastroenterology 137:1459-66.e1. 2009
    ..We revisited this issue by using 2 mechanistically distinct liver fibrosis models introduced into transgenic collagen reporter mice and their BM recipients...
  35. pmc Gain-of-function mutation in FGFR3 in mice leads to decreased bone mass by affecting both osteoblastogenesis and osteoclastogenesis
    Nan Su
    State Key Laboratory of Trauma, Burns and Combined Injury, Trauma Center, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, China
    Hum Mol Genet 19:1199-210. 2010
    ..Our studies provide new insight into the mechanism underlying the development of ACH...
  36. doi The human IL-3/granulocyte-macrophage colony-stimulating factor locus is epigenetically silent in immature thymocytes and is progressively activated during T cell development
    Fabio Mirabella
    Experimental Haematology, Leeds Institute of Molecular Medicine, University of Leeds, St James s University Hospital, Leeds, United Kingdom
    J Immunol 184:3043-54. 2010
    ..Significantly, we also found that memory CD4 positive T cells, but not naive T cells, maintain a remodeled chromatin structure resembling that seen in T blast cells...
  37. doi Dietary fluoride restriction does not alter femoral biomechanical strength in col1a2-deficient (oim) mice with type I collagen glomerulopathy
    Stephanie M Carleton
    Department of Biochemistry, University of Missouri, Columbia, MO 65211, USA
    J Nutr 140:1752-6. 2010
    ..and genetically heterogeneous disease due primarily to mutations in the type I procollagen genes, COL1A1 and COL1A2, causing bone deformity and numerous lifetime fractures...
  38. pmc The WTX tumor suppressor regulates mesenchymal progenitor cell fate specification
    Annie Moisan
    Massachusetts General Hospital Cancer Center, Harvard Medical School, Boston, MA 02114, USA
    Dev Cell 20:583-96. 2011
    ..Furthermore, the constellation of anomalies in Wtx null mice suggests that this tumor suppressor broadly regulates MPCs in multiple tissues...
  39. pmc A novel role of vimentin filaments: binding and stabilization of collagen mRNAs
    Azariyas A Challa
    Department of Biomedical Sciences, College of Medicine, Florida State University, Tallahassee, FL 32306, USA
    Mol Cell Biol 31:3773-89. 2011
    ..Thus, vimentin filaments may play a role in the development of tissue fibrosis by stabilizing collagen mRNAs. This finding will serve as a rationale for targeting vimentin in the development of novel antifibrotic therapies...
  40. pmc Deficient degradation of homotrimeric type I collagen, α1(I)3 glomerulopathy in oim mice
    Anna M Roberts-Pilgrim
    Department of Biochemistry, University of Missouri, Columbia, Missouri 65211, USA
    Mol Genet Metab 104:373-82. 2011
    b>Col1a2-deficient (oim) mice synthesize homotrimeric type I collagen due to nonfunctional proα2(I) collagen chains...
  41. doi Ucma is not necessary for normal development of the mouse skeleton
    Nicole Eitzinger
    Department of Experimental Medicine I, Nikolaus Fiebiger Centre of Molecular Medicine, University of Erlangen Nuremberg, 91054 Erlangen, Germany
    Bone 50:670-80. 2012
    ....
  42. pmc Gene Expression Profiling during Murine Tooth Development
    Maria A Dos Santos Silva Landin
    Department of Oral Biology, University of Oslo Oslo, Norway
    Front Genet 3:139. 2012
    ..Bioinformatic analysis associated the 87 genes with multiple biological functions. Around 35 genes were associated with 15 transcription factors...
  43. doi Wound-associated macrophages control collagen 1α2 transcription during the early stages of skin wound healing
    Mathieu P Rodero
    UQ Centre for Clinical Research, Experimental Dermatology Group, University of Queensland, Brisbane, QLD, Australia
    Exp Dermatol 22:143-5. 2013
    ..In conclusion, our results demonstrate an important role of wound macrophages in the control of collagen production during wound healing...
  44. doi Deletion of beta catenin in hypertrophic growth plate chondrocytes impairs trabecular bone formation
    Svitlana Golovchenko
    Dept of Experimental Medicine I, University of Erlangen Nuremberg, Germany
    Bone 55:102-12. 2013
    ....
  45. doi Dual role of delta-like 1 homolog (DLK1) in skeletal muscle development and adult muscle regeneration
    Ditte Caroline Andersen
    Laboratory of Molecular and Cellular Cardiology, Department of Clinical Biochemistry and Pharmacology, Odense University Hospital, Winsloewparken 21 3rd, 5000 Odense C, Denmark
    Development 140:3743-53. 2013
    ..Collectively, our results suggest a novel and surprising dual biological function of DLK1 as an enhancer of muscle development, but as an inhibitor of adult muscle regeneration. ..
  46. pmc Repression of let-7 by transforming growth factor-β1-induced Lin28 upregulates collagen expression in glomerular mesangial cells under diabetic conditions
    Jung Tak Park
    Department of Internal Medicine, College of Medicine, Yonsei University, Seoul, Republic of Korea and Division of Molecular Diabetes Research, Department of Diabetes, Beckman Research Institute of City of Hope, Duarte, California
    Am J Physiol Renal Physiol 307:F1390-403. 2014
    Accumulation of mesangial extracellular matrix (ECM) proteins such as collagen type 1-α2 (Col1a2) and collagen type 4-α1 (Col4a1) is a key feature of diabetic nephropathy (DN)...
  47. pmc Epithelial β1 integrin is required for lung branching morphogenesis and alveolarization
    Erin J Plosa
    Department of Pediatrics, Division of Neonatology, Vanderbilt University Medical Center, Nashville, TN 37232, USA
    Development 141:4751-62. 2014
    ....
  48. doi Muscle composition is regulated by a Lox-TGFβ feedback loop
    Liora Kutchuk
    The Rappaport Faculty of Medicine and Research Institute, Technion Israel Institute of Technology, Haifa 31096, Israel
    Development 142:983-93. 2015
    ..Our results allow a better understanding of diseases such as Duchenne muscular dystrophy, in which LOX and TGFβ signaling have been implicated and the balance between muscle constituents is disturbed. ..
  49. doi Raloxifene reduces skeletal fractures in an animal model of osteogenesis imperfecta
    Alycia G Berman
    Department of Biomedical Engineering, Indiana University Purdue University of Indianapolis, Indianapolis, IN, United States
    Matrix Biol 52:19-28. 2016
    ..In experiment 1, tibiae from female wild type (WT) and homozygous oim mice were subjected to in vitro soaking in RAL followed by mechanical tests...
  50. pmc VEGF stimulates intramembranous bone formation during craniofacial skeletal development
    Xuchen Duan
    Department of Developmental Biology, Harvard School of Dental Medicine, Boston, MA 02115, USA
    Matrix Biol 52:127-40. 2016
    ....
  51. doi Foxf2 is required for secondary palate development and Tgfβ signaling in palatal shelf mesenchyme
    Ali M Nik
    Department of Chemistry and Molecular Biology, University of Gothenburg, Box 462, SE 405 30 Gothenburg, Sweden
    Dev Biol 415:14-23. 2016
    ..We therefore propose that gene expression changes in palatal shelf mesenchyme that lead to reduced Tgfβ signaling contribute to cleft palate in Foxf2(-)(/)(-) mice. ..
  52. doi Delayed osteoblastic differentiation and bone development in Cx43 knockout mice
    Lucas Martins Chaible
    Department of Pathology, School of Veterinary Medicine and Animal Science, University of Sao Paulo, Sao Paulo, Brazil
    Toxicol Pathol 39:1046-55. 2011
    ..The results of the present study contribute to our understanding of the function of GJA1 during bone development and suggest that GJC1 could play a role in restoring intercellular communication in GJA1-deficient mice...
  53. doi Smad, but not MAPK, pathway mediates the expression of type I collagen in radiation induced fibrosis
    Hiroyuki Yano
    Department of Matrix Medicine, Oita University, 1 1 Idaigaoka Hasama machi, Yufu, Oita 879 5593, Japan
    Biochem Biophys Res Commun 418:457-63. 2012
    ..However, the MAPK pathways, p38, ERK1/2 and JNK, were not affected with specific inhibitors or siRNA. The data showed that the Smad pathway mediated the expression of type I collagen in radiation induced fibrosis...
  54. pmc Structural and mechanical differences between collagen homo- and heterotrimers: relevance for the molecular origin of brittle bone disease
    Shu Wei Chang
    Laboratory for Atomistic and Molecular Mechanics, Department of Civil and Environmental Engineering, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA
    Biophys J 102:640-8. 2012
    ..A mouse model of the genetic brittle bone disease, osteogenesis imperfect, oim, is characterized by a replacement of the α-2 chain by an α-1 chain, resulting also in a homotrimer collagen ..
  55. pmc Spatial and temporal analysis of extracellular matrix proteins in the developing murine heart: a blueprint for regeneration
    Kevin P Hanson
    Department of Biomedical Engineering, University of Wisconsin Madison, Madison, Wisconsin 53706, USA
    Tissue Eng Part A 19:1132-43. 2013
    ..Similarly, fabricated scaffolds generated using ECM components, could be utilized for ventricular repair...
  56. ncbi Localization of the cystic fibrosis transmembrane conductance regulator (Cftr) to mouse chromosome 6
    D Siegel
    Howard Hughes Medical Institute, Rockefeller University, New York, NY 10021
    Cytogenet Cell Genet 61:184-5. 1992
  57. ncbi The alpha 2 chain of type 1 collagen does not map to mouse chromosome 16 but maps close to the Met proto-oncogene on mouse chromosome 6
    N G Irving
    Department of Biochemistry and Molecular Genetics, St Mary s Hospital Medical School, London, UK
    Cytogenet Cell Genet 50:121-2. 1989
    ....
  58. ncbi Assignment of the genes for mouse type I procollagen to chromosome 16 using mouse fibroblast-Chinese hamster somatic cell hybrids
    D E Shupp Byrne
    Somatic Cell Genet 9:313-31. 1983
    ..These studies, therefore, assign the structural genes for mouse type I procollagen pro alpha 1 (MCOLA1) and pro alpha 2 (MCOLA2) chains to mouse chromosome 16...
  59. ncbi The type I collagen pro alpha 1(I) COOH-terminal propeptide N-linked oligosaccharide. Functional analysis by site-directed mutagenesis
    S R Lamande
    Department of Paediatrics, University of Melbourne, Royal Children s Hospital, Parkville, Victoria, Australia
    J Biol Chem 270:17858-65. 1995
    ....
  60. ncbi Type III collagen is a major component of interodontoblastic fibers of the developing mouse molar root
    Y Ohsaki
    Second Department of Oral Anatomy, Faculty of Dentistry, Kyushu University, Fukuoka, Japan
    Anat Rec 240:308-13. 1994
    ..Recently, collagenous interodontoblastic fibers (IOF) were reported in some particular developmental stages and/or locations of the tooth. However, it remained unclear whether these fibers were identical to so-called von Korff fibers...
  61. ncbi Microdissection of proximal mouse chromosome 6: identification of RFLPs tightly linked to the ob mutation
    N Bahary
    Laboratory of Molecular Genetics, Rockefeller University, New York, New York 10021
    Mamm Genome 4:511-5. 1993
    ..Recombinants were then typed for D6Rck13. D6Rck13 was nonrecombinant among all the progency of both crosses corresponding to 831 meioses. This probe will be of use as an entry point for physical mapping of the ob mutation...
  62. ncbi Homology-mediated recombination between type I collagen gene exons results in an internal tandem duplication and lethal osteogenesis imperfecta
    D H Cohn
    Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, Cedars Sinai Medical Center, Los Angeles, California 90048
    Hum Mutat 2:21-7. 1993
    ....
  63. ncbi The complete primary structure of the long form of mouse alpha 1(IX) collagen chain and its expression during limb development
    N Abe
    Department of Molecular Biology and Biochemistry, Okayama University Medical School, Japan
    Biochim Biophys Acta 1204:61-7. 1994
    ..This could be due to active bone formation relative to cartilage synthesis in the embryonic limb bud around day 16 in mouse development...
  64. ncbi Purification of a novel factor which binds to the mouse alpha 2 (I) collagen promoter
    A Hatamochi
    Dermatologische Klinik und Poliklinik der Ludwig Maximilians Universität München, Germany
    FEBS Lett 327:325-31. 1993
    ....
  65. ncbi Fine mapping of the human and mouse genes for the type I procollagen COOH-terminal proteinase enhancer protein
    K Takahara
    Department of Pathology and Laboratory Medicine, University of Wisconsin Medical School, Madison 53706, USA
    Genomics 31:253-6. 1996
    ..3-q22) as COL1A2, the type I collagen pro-alpha 2 chain gene...
  66. pmc Collagen from the osteogenesis imperfecta mouse model (oim) shows reduced resistance against tensile stress
    K Misof
    Institut für Materialphysik der Universität Wien A 1090 Wien, Austria
    J Clin Invest 100:40-5. 1997
    ..Recently a mouse model of OI, designated as osteogenesis imperfecta murine (oim), and having a well defined genetic mutation, has been studied and found to contain mineral crystals different in ..
  67. ncbi Extracellular-matrix gene expression during mouse submandibular gland development
    S P Macauley
    Department of Oral Biology, University of Florida College of Medicine, Gainesville 32610, U S A
    Arch Oral Biol 42:443-54. 1997
    ....
  68. pmc Expression and localization of collagen-binding stress protein Hsp47 in mouse embryo development: comparison with types I and II collagen
    H Masuda
    Department of Molecular and Cellular Biology, Institute for Frontier Medical Sciences, Sakyo ku, Kyoto, 606 8507, Japan
    Cell Stress Chaperones 3:256-64. 1998
    ..These results suggest the biological importance of Hsp47 as a collagen-specific molecular chaperone in the mouse developmental program...
  69. pmc In situ hybridisation study of type I, II, X collagens and aggrecan mRNas in the developing condylar cartilage of fetal mouse mandible
    K Fukada
    2nd Department of Orthodontics, School of Dentistry, Tokyo Medical and Dental University, Japan
    J Anat 195:321-9. 1999
    ..Further, it is indicated that sequential rapid changes and reductions of each mRNA might be closely related to the construction of the temporal mandibular ramus in the fetal stage...
  70. ncbi Identification of the key regions within the mouse pro-alpha 2(I) collagen gene far-upstream enhancer
    Sarah De Val
    Medical Research Council Clinical Sciences Centre, Imperial College, Hammersmith Campus, London W12 ONN, United Kingdom
    J Biol Chem 277:9286-92. 2002
    ..A 400-bp sequence located between -17.0 and -16.6 is also essential for the enhancer because its deletion results in increased susceptibility to the chromatin environment...
  71. ncbi TGFbeta2 in corneal morphogenesis during mouse embryonic development
    S Saika
    Department of Ophthalmology, University of Cincinnati, Cincinnati, Ohio, USA
    Dev Biol 240:419-32. 2001
    ..Delayed appearance of macrophages in ocular tissues was observed in Tgfb2(-/-) mice. Malfunctioning macrophages may account for accumulation of cell mass in vitreous of Tgfb2 null mice...
  72. pmc Ultrastructural cartilage abnormalities in MIA/CD-RAP-deficient mice
    Markus Moser
    Institute of Pathology, University Hospital RWTH, D 52074 Aachen, Germany
    Mol Cell Biol 22:1438-45. 2002
    ..Taken together, our data indicate that MIA/CD-RAP is essentially required for formation of the highly ordered ultrastructural fiber architecture in cartilage and may have a role in regulating chondrocyte matrix interactions...
  73. ncbi Extracellular matrix protein expression during mouse detrusor development
    N Smeulders
    Nephro Urology Unit, Institute of Child Health, University College London, London, England
    J Pediatr Surg 38:1-12. 2003
    ....
  74. pmc Identification of a large novel imprinted gene cluster on mouse proximal chromosome 6
    Ryuichi Ono
    Gene Research Center, Tokyo Institute of Technology, Yokohama 226 8501, Japan
    Genome Res 13:1696-705. 2003
    ....
  75. 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...
  76. ncbi Col1a2 enhancer regulates collagen activity during development and in adult tissue repair
    Markella Ponticos
    Muscle Cell Biology Group, MRC Clinical Science Centre, Imperial College, Hammersmith Hospital Campus, Du Cane Road, London W12 0NN, UK
    Matrix Biol 22:619-28. 2004
    An enhancer region in the type I collagen alpha 2 chain (pro-Col1a2) promoter has been previously identified approximately -17 kb away from the transcription start site...
  77. ncbi Canonical Wnt signaling in differentiated osteoblasts controls osteoclast differentiation
    Donald A Glass
    Department of Molecular and Human Genetics, Bone Disease Program of Texas, Houston, 77030, USA
    Dev Cell 8:751-64. 2005
    ....
  78. ncbi Pax9 and Jagged1 act downstream of Gli3 in vertebrate limb development
    Edwina McGlinn
    Institute for Molecular Bioscience, The University of Queensland, Brisbane, QLD 4072, Australia
    Mech Dev 122:1218-33. 2005
    ..Our data have also revealed that perturbation of early patterning events within the Gli3(Xt/Xt) limb culminates in a specific delay of anterior chondrogenesis which is subsequently realised as extra digits...
  79. pmc Dysregulation of TGF-beta1 receptor activation leads to abnormal lung development and emphysema-like phenotype in core fucose-deficient mice
    Xiangchun Wang
    Department of Biochemistry, Osaka University Graduate School of Medicine, Osaka 565 0871, Japan
    Proc Natl Acad Sci U S A 102:15791-6. 2005
    ..We propose that the lack of core fucosylation of TGF-beta1 receptors is crucial for a developmental and progressive/destructive emphysema, suggesting that perturbation of this function could underlie certain cases of human emphysema...
  80. pmc Transcriptional link between blood and bone: the stem cell leukemia gene and its +19 stem cell enhancer are active in bone cells
    John E Pimanda
    Department of Haematology, Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 2XY, United Kingdom
    Mol Cell Biol 26:2615-25. 2006
    ....
  81. ncbi Phosphorylation of the alpha 2(1) procollagen promoter binding proteins is required for promoter activity
    Virna D Leaner
    Division of Medical Biochemistry, Institute of Infectious Disease and Molecular Medicine, Faculty of Health Sciences, University of Cape Town, South Africa
    IUBMB Life 58:97-102. 2006
    We have previously identified transcription factors binding to the proximal promoter region of the human COL1A2 gene that are essential for promoter activity...
  82. pmc The role of TGF-beta signaling in regulating chondrogenesis and osteogenesis during mandibular development
    Kyoko Oka
    Center for Craniofacial Molecular Biology, School of Dentistry, University of Southern California, 2250 Alcazar Street, CSA 103, Los Angeles, CA 90033, USA
    Dev Biol 303:391-404. 2007
    ..Collectively, our data suggest that there are differential signal cascades in response to TGF-beta to control chondrogenesis and osteogenesis during mandibular development...
  83. pmc FGF9 regulates early hypertrophic chondrocyte differentiation and skeletal vascularization in the developing stylopod
    Irene H Hung
    Department of Molecular Biology and Pharmacology, Washington University School of Medicine, Campus Box 8103, 660 S Euclid Avenue, St Louis, MO 63110, USA
    Dev Biol 307:300-13. 2007
    ..In developing stylopod elements, FGF9 promotes chondrocyte hypertrophy at early stages and regulates vascularization of the growth plate and osteogenesis at later stages of skeletal development...
  84. ncbi Wnt pathway anomalies in developing amygdalae of Turner syndrome-like mice
    Adam S Raefski
    Department of Molecular and Cell Biology, University of Connecticut, Storrs, CT 06269, USA
    J Mol Neurosci 32:111-9. 2007
    ..In silico pathway analysis of both X-linked and autosomal mis-regulated genes suggests that modulation of Wnt signaling is a critical factor in the normal growth and development of the amygdala...
  85. ncbi Tubular atrophy, interstitial fibrosis, and inflammation in type 2 diabetic db/db mice. An accelerated model of advanced diabetic nephropathy
    V Ninichuk
    Medical Policlinic, University of Munich, Munich, Germany
    Eur J Med Res 12:351-5. 2007
    ..Accelerating the development of DN in mice would be desirable for feasible experimental validation of potential targets that mediate the progression to late stage DN...
  86. ncbi CIITA mediates interferon-gamma repression of collagen transcription through phosphorylation-dependent interactions with co-repressor molecules
    Yong Xu
    Department of Biochemistry, Boston University School of Medicine, 715 Albany Street, Boston, MA 02118, USA
    J Biol Chem 283:1243-56. 2008
    ..Therefore, we have identified the region within CIITA responsible for mediating IFN-gamma-induced inhibition of collagen synthesis...
  87. doi Ciz, a transcription factor with a nucleocytoplasmic shuttling activity, interacts with C-propeptides of type I collagen
    Tadayoshi Hayata
    Department of Molecular Pharmacology, Medical Research Institute, Tokyo Medical and Dental University, 3 10 Kanda Surugadai 2 Chome, Chiyoda ku, Tokyo 101 0062, Japan
    Biochem Biophys Res Commun 368:205-10. 2008
    ..protein, 47% of the positive clones were genes encoding extracellular matrix proteins, including Col1a1, Col1a2, Fbln2, and Rpsa...
  88. pmc Periostin regulates atrioventricular valve maturation
    Russell A Norris
    Department of Cell Biology and Anatomy, Medical University of South Carolina, BSB Suite 601, 173 Ashley Avenue, Charleston, SC 29425, USA
    Dev Biol 316:200-13. 2008
    ..g. myocytes). This is the first report of an extracellular matrix protein directly regulating post-EMT AV valve differentiation, a process foundational and indispensable for the morphogenesis of a cushion into a leaflet...
  89. pmc Overexpression of delta-like 4 induces arterialization and attenuates vessel formation in developing mouse embryos
    Alexandre Trindade
    Centro de Informatica do Instituto Superior de Agronomia CIISA, Lisbon Technical University, Lisbon, Portugal
    Blood 112:1720-9. 2008
    ..These results establish the role of Dll4 in arterial identity determination, and regulation of angiogenesis subject to dose and location...
  90. pmc uPARAP expression during murine lung development
    Leah Smith
    Division of Pulmonary and Critical Care Medicine, Department of Medicine, Harborview Medical Center, University of Washington, Box 359640, 325 9th Ave, Seattle, WA 98104, USA
    Gene Expr Patterns 8:486-93. 2008
    ..Finally, we compared lung development between wild-type and uPARAP(-/-) mice, and found no significant histologic differences, indicating the presence of alternative collagen degradation pathways during murine lung development...
  91. doi Transactivation by Runt related factor-2 of matrix metalloproteinase-13 in astrocytes
    Takeshi Takarada
    Laboratory of Molecular Pharmacology, Division of Pharmaceutical Sciences, Kanazawa University Graduate School of Natural Science and Technology, Kakuma machi, Kanazawa, Ishikawa 920 1192, Japan
    Neurosci Lett 451:99-104. 2009
    ..These results suggest that Runx2 signal input may lead to transactivation of MMP13 gene without affecting OPN expression in astrocytes...
  92. pmc Overexpression of BMP3 in the developing skeleton alters endochondral bone formation resulting in spontaneous rib fractures
    Laura W Gamer
    Department of Developmental Biology, Harvard School of Dental Medicine, Boston, Massachusetts 02115, USA
    Dev Dyn 238:2374-81. 2009
    ....
  93. doi Novel quantitative trait loci for central corneal thickness identified by candidate gene analysis of osteogenesis imperfecta genes
    David P Dimasi
    Department of Ophthalmology, Flinders University, Adelaide, SA 5042, Australia
    Hum Genet 127:33-44. 2010
    ..imperfecta (OI) is a rare connective tissue disorder caused by mutations in the type I collagen genes, COL1A1 and COL1A2, and is characterised by low bone mass and bone fragility...
  94. pmc c-Abl tyrosine kinase regulates cardiac growth and development
    Zhaozhu Qiu
    Department of Microbiology, Howard Hughes Medical Institute, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA
    Proc Natl Acad Sci U S A 107:1136-41. 2010
    ..Genes involved in cardiac stress and remodeling and cell cycle regulation are also up-regulated in the mutant hearts. These findings reveal an essential role for c-Abl in mammalian heart growth and development...
  95. pmc TGF-beta mediated FGF10 signaling in cranial neural crest cells controls development of myogenic progenitor cells through tissue-tissue interactions during tongue morphogenesis
    Ryoichi Hosokawa
    Center for Craniofacial Molecular Biology, University of Southern California, Los Angeles, CA 90033, USA
    Dev Biol 341:186-95. 2010
    ..The addition of FGF10 rescued the muscle cell number in Wnt1-Cre;Tgfbr2(flox/flox) mice. Thus, TGF-beta induced FGF10 signaling has a critical function in regulating tissue-tissue interaction during tongue skeletal muscle development...
  96. pmc Amelioration of a mouse model of osteogenesis imperfecta with hematopoietic stem cell transplantation: microcomputed tomography studies
    Meenal Mehrotra
    Research Services, Department of Veterans Affairs Medical Center, Charleston, SC 29401 5799, USA
    Exp Hematol 38:593-602. 2010
    ..Homozygous OI murine mice (oim; B6C3Fe a/a-Col1a2(oim)/J) offer excellent recipients for transplantation of normal HSCs, because fast turnover of osteoprogenitors ..
  97. pmc The Mohawk homeobox gene is a critical regulator of tendon differentiation
    Yoshiaki Ito
    Department of Systems Biomedicine, National Research Institute for Child Health and Development, Tokyo 157 8535, Japan
    Proc Natl Acad Sci U S A 107:10538-42. 2010
    ..These data indicate that Mkx plays a critical role in tendon differentiation by regulating type I collagen production in tendon cells...
  98. pmc Bone marrow stromal cells contribute to bone formation following infusion into femoral cavities of a mouse model of osteogenesis imperfecta
    Feng Li
    Pennsylvania State University College of Medicine, Division of Musculoskeletal Sciences, Department of Orthopaedics and Rehabilitation, Hershey, PA 17033, USA
    Bone 47:546-55. 2010
    ..imperfecta bones (OI), MSCs marked with GFP were directly infused into the femurs of a mouse model of OI (oim)...
  99. pmc Collagen mutation causes changes of the microdamage morphology in bone of an OI mouse model
    X Neil Dong
    Department of Mechanical Engineering, University of Texas at San Antonio, San Antonio, TX 78249, USA
    Bone 47:1071-5. 2010
    ....
  100. pmc Altered spatiotemporal expression of collagen types I, III, IV, and VI in Lpar3-deficient peri-implantation mouse uterus
    Honglu Diao
    Department of Physiology and Pharmacology, College of Veterinary Medicine, University of Georgia, Athens, Georgia 30602, USA
    Biol Reprod 84:255-65. 2011
    ..These results demonstrate that pathways downstream of LPA3 are involved in the dynamic remodeling of ECM in the peri-implantation uterus...
  101. pmc Synovial joint formation requires local Ext1 expression and heparan sulfate production in developing mouse embryo limbs and spine
    Christina Mundy
    Department of Orthopaedic Surgery, College of Medicine, Thomas Jefferson University, Philadelphia, PA 19107, USA
    Dev Biol 351:70-81. 2011
    ..The data indicate also that defects in joint formation reverberate on, and delay, overall long bone growth...

Research Grants5

  1. Spectroscopic identification /removal of PMMA from bone
    Nancy Pleshko; Fiscal Year: 2005
    ....
  2. The Role of Cartilage Link Protein 1 (Crtl1) in Heart Development
    ARNO WESSELS; Fiscal Year: 2010
    ..Understanding the role of Crtl1, and Crtl1-associated mechanisms, in heart development may further our knowledge of the etiology of a variety of these malformations including the mechanisms that lead to muscular septal defects. ..
  3. Biomolecular Mechanics of Collagen Monomers And Fibrils
    Charlotte Phillips; Fiscal Year: 2004
    ..However, type I collagen in oim mice is exclusively composed of al(I) homotrimers, [al(I)3] (result of a null mutation in the a2(I) gene)...
  4. Collagen Glomerulopathy: COL1A2 Deficient Mouse Model
    Charlotte Phillips; Fiscal Year: 2007
    ..Oim/oim mice (homozygous null for the COL1A2 gene) are unique in that they exclusively synthesize homotrimeric type I collagen, a1(l)3, and are unable to ..
  5. Communication between Kupffer cells and stellate cells
    Natalia Nieto; Fiscal Year: 2009
    ..We hope that this co-culture model will help us to define the effects of Kupffer cells on the stellate cell fibrogenic response and to dissect potential therapeutic targets for preventing liver disease. ..