Col1a1

Summary

Gene Symbol: Col1a1
Description: collagen, type I, alpha 1
Alias: Col1a-1, Cola-1, Cola1, Mov-13, Mov13, collagen alpha-1(I) chain, alpha-1 type 1 collagen, alpha-1 type I collagen, procollagen, type I, alpha 1
Species: mouse

Top Publications

  1. ncbi Ectopic expression of Oct-4 blocks progenitor-cell differentiation and causes dysplasia in epithelial tissues
    Konrad Hochedlinger
    Whitehead Institute for Biomedical Research, 9 Cambridge Center, Cambridge, MA 02142, USA
    Cell 121:465-77. 2005
  2. pmc Tissue stretch decreases soluble TGF-beta1 and type-1 procollagen in mouse subcutaneous connective tissue: evidence from ex vivo and in vivo models
    Nicole A Bouffard
    Department of Neurology, University of Vermont College of Medicine, Burlington, Vermont 05405, USA
    J Cell Physiol 214:389-95. 2008
  3. ncbi The spatial and temporal expression of the alpha 2 beta 1 integrin and its ligands, collagen I, collagen IV, and laminin, suggest important roles in mouse mammary morphogenesis
    P J Keely
    Department of Pathology, Washington University School of Medicine, St Louis, MO 63110 1093, USA
    Differentiation 59:1-13. 1995
  4. pmc Extracellular signal-regulated kinase 1 (ERK1) and ERK2 play essential roles in osteoblast differentiation and in supporting osteoclastogenesis
    Takehiko Matsushita
    Department of Orthopaedics, Case Western Reserve University, 2109 Adelbert Road, BRB 329, Cleveland, OH 44106, USA
    Mol Cell Biol 29:5843-57. 2009
  5. pmc Insertion of retrovirus into the first intron of alpha 1(I) collagen gene to embryonic lethal mutation in mice
    K Harbers
    Proc Natl Acad Sci U S A 81:1504-8. 1984
  6. ncbi MEK kinase 1 regulates c-Jun phosphorylation in the control of corneal morphogenesis
    Lin Zhang
    Center for Environmental Genetics and Department of Environmental Health, University of Cincinnati Medical Center, Cincinnati, OH 45267 0056, USA
    Mol Vis 9:584-93. 2003
  7. ncbi Mutant fibrillin 1 from tight skin mice increases extracellular matrix incorporation of microfibril-associated glycoprotein 2 and type I collagen
    Raphael Lemaire
    Boston University School of Medicine, The Arthritis Center, Boston, Massachusetts 02118, USA
    Arthritis Rheum 50:915-26. 2004
  8. ncbi Dentin matrix protein 1 expression during osteoblastic differentiation, generation of an osteocyte GFP-transgene
    I Kalajzic
    Department of Genetics and Developmental Biology, University of Connecticut Health Center, Farmington 06030, USA
    Bone 35:74-82. 2004
  9. ncbi Structure, stability and interactions of type I collagen with GLY349-CYS substitution in alpha 1(I) chain in a murine Osteogenesis Imperfecta model
    Natalia V Kuznetsova
    Section on Physical Biochemistry, National Institute of Child Health and Human Development, National Institutes of Health, Bldg 9, Rm 1E 127, Bethesda, MD 20892, USA
    Matrix Biol 23:101-12. 2004
  10. pmc Site-1 protease is essential for endochondral bone formation in mice
    Debabrata Patra
    Department of Orthopaedic Surgery, Washington University School of Medicine at Barnes Jewish Hospital, St Louis, MO 63110, USA
    J Cell Biol 179:687-700. 2007

Scientific Experts

Detail Information

Publications141 found, 100 shown here

  1. ncbi Ectopic expression of Oct-4 blocks progenitor-cell differentiation and causes dysplasia in epithelial tissues
    Konrad Hochedlinger
    Whitehead Institute for Biomedical Research, 9 Cambridge Center, Cambridge, MA 02142, USA
    Cell 121:465-77. 2005
    ..These data show that certain adult progenitors remain competent to interpret key embryonic signals and support the notion that progenitor cells are a driving force in tumorigenesis...
  2. pmc Tissue stretch decreases soluble TGF-beta1 and type-1 procollagen in mouse subcutaneous connective tissue: evidence from ex vivo and in vivo models
    Nicole A Bouffard
    Department of Neurology, University of Vermont College of Medicine, Burlington, Vermont 05405, USA
    J Cell Physiol 214:389-95. 2008
    ..These results have potential relevance to the mechanisms of treatments applying brief mechanical stretch to tissues (e.g., physical therapy, respiratory therapy, mechanical ventilation, massage, yoga, acupuncture)...
  3. ncbi The spatial and temporal expression of the alpha 2 beta 1 integrin and its ligands, collagen I, collagen IV, and laminin, suggest important roles in mouse mammary morphogenesis
    P J Keely
    Department of Pathology, Washington University School of Medicine, St Louis, MO 63110 1093, USA
    Differentiation 59:1-13. 1995
    ..Our results suggest that alpha 2 beta 1 integrin interactions with its temporally and spatially regulated ligands, collagen I, collagen IV, and laminin, could play an important role in mammary morphogenesis in vivo...
  4. pmc Extracellular signal-regulated kinase 1 (ERK1) and ERK2 play essential roles in osteoblast differentiation and in supporting osteoclastogenesis
    Takehiko Matsushita
    Department of Orthopaedics, Case Western Reserve University, 2109 Adelbert Road, BRB 329, Cleveland, OH 44106, USA
    Mol Cell Biol 29:5843-57. 2009
    ..Thus, our results indicate that ERK1 and ERK2 not only play essential roles in the lineage specification of osteo-chondroprogenitor cells but also support osteoclast formation in vivo...
  5. pmc Insertion of retrovirus into the first intron of alpha 1(I) collagen gene to embryonic lethal mutation in mice
    K Harbers
    Proc Natl Acad Sci U S A 81:1504-8. 1984
    ..This indicates that the sequences upstream of the mRNA start are highly conserved during evolution, suggesting that this region has an important role in the control of tissue-specific collagen expression...
  6. ncbi MEK kinase 1 regulates c-Jun phosphorylation in the control of corneal morphogenesis
    Lin Zhang
    Center for Environmental Genetics and Department of Environmental Health, University of Cincinnati Medical Center, Cincinnati, OH 45267 0056, USA
    Mol Vis 9:584-93. 2003
    ..To study the in vivo role of MEK kinase 1 (MEKK1) in corneal development...
  7. ncbi Mutant fibrillin 1 from tight skin mice increases extracellular matrix incorporation of microfibril-associated glycoprotein 2 and type I collagen
    Raphael Lemaire
    Boston University School of Medicine, The Arthritis Center, Boston, Massachusetts 02118, USA
    Arthritis Rheum 50:915-26. 2004
    ..We also studied whether deposition of microfibril-associated glycoprotein 2 (MAGP-2), a protein that is associated with fibrillin 1, was altered in the skin of patients with SSc...
  8. ncbi Dentin matrix protein 1 expression during osteoblastic differentiation, generation of an osteocyte GFP-transgene
    I Kalajzic
    Department of Genetics and Developmental Biology, University of Connecticut Health Center, Farmington 06030, USA
    Bone 35:74-82. 2004
    ..Generation of this transgenic model will facilitate studies of gene expression and biological functions in these terminally differentiated bone cells...
  9. ncbi Structure, stability and interactions of type I collagen with GLY349-CYS substitution in alpha 1(I) chain in a murine Osteogenesis Imperfecta model
    Natalia V Kuznetsova
    Section on Physical Biochemistry, National Institute of Child Health and Human Development, National Institutes of Health, Bldg 9, Rm 1E 127, Bethesda, MD 20892, USA
    Matrix Biol 23:101-12. 2004
    ..mouse, a heterozygous knock-in model for Osteogenesis Imperfecta, which has a G349C substitution introduced in one col1a1 allele...
  10. pmc Site-1 protease is essential for endochondral bone formation in mice
    Debabrata Patra
    Department of Orthopaedic Surgery, Washington University School of Medicine at Barnes Jewish Hospital, St Louis, MO 63110, USA
    J Cell Biol 179:687-700. 2007
    ..These data suggest that S1P activity is necessary for a specialized ER stress response required by chondrocytes for the genesis of normal cartilage and thus endochondral ossification...
  11. pmc Wnt inhibitory factor 1 is epigenetically silenced in human osteosarcoma, and targeted disruption accelerates osteosarcomagenesis in mice
    Maya Kansara
    Ian Potter Foundation Centre for Cancer Genetics and Preventative Medicine, and Sir Donald and Lady Trescowthick Laboratories, Peter MacCallumCancer Centre, Melbourne, Victoria, Australia
    J Clin Invest 119:837-51. 2009
    ..These data lead us to suggest that derepression of Wnt signaling by targeting secreted Wnt antagonists in osteoblasts may increase susceptibility to osteosarcoma...
  12. ncbi Transgenic mice that express a mini-gene version of the human gene for type I procollagen (COL1A1) develop a phenotype resembling a lethal form of osteogenesis imperfecta
    J S Khillan
    Department of Biochemistry and Molecular Biology, Jefferson Institute of Molecular Medicine, Jefferson Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania 19107
    J Biol Chem 266:23373-9. 1991
    A mini-gene version of the human gene for a pro-alpha 1(I) chain of type I procollagen (COL1A1) was prepared that contained -2...
  13. ncbi Expression of the mouse alpha 1(II) collagen gene is not restricted to cartilage during development
    K S Cheah
    Department of Biochemistry, University of Hong Kong
    Development 111:945-53. 1991
    ..Type II collagen may therefore have additional roles in development unrelated to chondrogenesis...
  14. ncbi Specific hybridization probes for mouse type I, II, III and IX collagen mRNAs
    M Metsaranta
    University of Texas M D Anderson Cancer Center, Department of Molecular Genetics, Houston
    Biochim Biophys Acta 1089:241-3. 1991
    ..The clone for mouse alpha 1(IX) collagen covers coding sequences but is sufficiently divergent from other collagen transcripts to allow specific detection of the corresponding mRNA...
  15. ncbi Perinatal lethal osteogenesis imperfecta in transgenic mice bearing an engineered mutant pro-alpha 1(I) collagen gene
    A Stacey
    Whitehead Institute for Biomedical Research, Department of Biology, Massachusetts Institute of Technology, Cambridge 02142
    Nature 332:131-6. 1988
    ....
  16. ncbi Collagens: molecular biology, diseases, and potentials for therapy
    D J Prockop
    Department of Biochemistry and Molecular Biology, Jefferson Institute of Molecular Medicine, Jefferson Medical College of Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
    Annu Rev Biochem 64:403-34. 1995
    ..A number of experiments suggest it may be possible to inhibit collagen synthesis with oligo-nucleotides or antisense genes...
  17. pmc Separate cis-acting DNA elements of the mouse pro-alpha 1(I) collagen promoter direct expression of reporter genes to different type I collagen-producing cells in transgenic mice
    J Rossert
    Department of Molecular Genetics, University of Texas M D Anderson Cancer Center, Houston 77030, USA
    J Cell Biol 129:1421-32. 1995
    ..Our data also imply that other cis-acting cell-specific elements which direct activity of the gene to still other type I collagen-producing cells remain to be identified...
  18. pmc A targeted mutation at the known collagenase cleavage site in mouse type I collagen impairs tissue remodeling
    X Liu
    Whitehead Institute for Biomedical Research, Cambridge, Massachusetts 02142, USA
    J Cell Biol 130:227-37. 1995
    ..Thus, type I collagen is degraded by at least two differentially controlled mechanisms involving collagenases with distinct, but overlapping, substrate specificities...
  19. pmc DNA methylation represses the murine alpha 1(I) collagen promoter by an indirect mechanism
    K Rhodes
    Department of Biology, San Diego State University, California 92182
    Mol Cell Biol 14:5950-60. 1994
    ....
  20. ncbi Disrupted expression of matrix genes in the growth plate of the mouse cartilage matrix deficiency (cmd) mutant
    A W Wai
    Department of Biochemistry, University of Hong Kong, China
    Dev Genet 22:349-58. 1998
    ..The discordance of gene expression in cmd chondrocytes may be additional factors contributing to the disrupted cellular architecture of the growth plate resulting from the primary absence of aggrecan...
  21. 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
    ....
  22. 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...
  23. pmc Bone resorption induced by parathyroid hormone is strikingly diminished in collagenase-resistant mutant mice
    W Zhao
    Department of Medicine, Harvard Medical School, Medical Services Arthritis Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
    J Clin Invest 103:517-24. 1999
    ..of collagenase in the bone resorptive actions of PTH, we used mice homozygous (r/r) for a targeted mutation (r) in Col1a1 that are resistant to collagenase cleavage of type I collagen...
  24. 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...
  25. 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...
  26. ncbi Perlecan is essential for cartilage and cephalic development
    E Arikawa-Hirasawa
    Craniofacial Developmental Biology and Regeneration Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland, USA
    Nat Genet 23:354-8. 1999
    ..Our findings suggest that these molecules affect similar signalling pathways...
  27. pmc Osteocyte and osteoblast apoptosis and excessive bone deposition accompany failure of collagenase cleavage of collagen
    W Zhao
    Department of Medicine, Harvard Medical School, Medical Services Arthritis Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
    J Clin Invest 106:941-9. 2000
    Mice carrying a targeted mutation (r) in Col1a1, encoding a collagenase-resistant form of type I collagen, have altered skeletal remodeling...
  28. ncbi The transcription factors L-Sox5 and Sox6 are essential for cartilage formation
    P Smits
    Department of Molecular Genetics, The University of Texas M D Anderson Cancer Center, Houston 77030, USA
    Dev Cell 1:277-90. 2001
    ..L-Sox5 and Sox6 are thus redundant, potent enhancers of chondroblast functions, thereby essential for endochondral skeleton formation...
  29. ncbi The novel zinc finger-containing transcription factor osterix is required for osteoblast differentiation and bone formation
    Kazuhisa Nakashima
    Department of Molecular Genetics and Program in Genes and Development, M D Anderson Cancer Center, University of Texas, 1515 Holcombe Boulevard, Houston, TX 77030, USA
    Cell 108:17-29. 2002
    ..Thus, Osx acts downstream of Runx2/Cbfa1. Because Osx null preosteoblasts express typical chondrocyte marker genes, we propose that Runx2/Cbfa1-expressing preosteoblasts are still bipotential cells...
  30. ncbi Skeletal defects in VEGF(120/120) mice reveal multiple roles for VEGF in skeletogenesis
    Elazar Zelzer
    Harvard Medical School, Department of Cell Biology, 240 Longwood Avenue, Boston, MA, USA
    Development 129:1893-904. 2002
    ..We also describe new in vivo evidence for a possible role of VEGF in chondrocyte maturation, and document that VEGF has a direct role in regulating osteoblastic activity based on in vivo evidence and organ culture experiments...
  31. ncbi A twist code determines the onset of osteoblast differentiation
    Peter Bialek
    Department of Molecular and Human Genetics, Bone Disease Program of Texas, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    Dev Cell 6:423-35. 2004
    ..In vivo mutagenesis confirms the antiosteogenic function of the Twist box. Thus, relief of inhibition by Twist proteins is a mandatory event precluding osteoblast differentiation...
  32. pmc Runx2 and Runx3 are essential for chondrocyte maturation, and Runx2 regulates limb growth through induction of Indian hedgehog
    Carolina A Yoshida
    Department of Molecular Medicine, Osaka University Graduate School of Medicine, Suita, Osaka 565 0871, Japan
    Genes Dev 18:952-63. 2004
    ..These findings demonstrate that Runx2 and Runx3 are essential for chondrocyte maturation and that Runx2 regulates limb growth by organizing chondrocyte maturation and proliferation through the induction of Ihh expression...
  33. pmc Dwarfism and impaired gut development in insulin-like growth factor II mRNA-binding protein 1-deficient mice
    Thomas V O Hansen
    Department of Clinical Biochemistry, University Hospital Rigshospitalet, Copenhagen, Denmark
    Mol Cell Biol 24:4448-64. 2004
    ..Taken together, the results demonstrate that IMP1 is essential for normal growth and development. Moreover, IMP1 may facilitate intestinal morphogenesis via regulation of extracellular matrix formation...
  34. ncbi Sequential roles of Hedgehog and Wnt signaling in osteoblast development
    Hongliang Hu
    Department of Medicine, Washington University Medical School, St Louis, MO 63110, USA
    Development 132:49-60. 2005
    ..Finally Wnt7b is identified as a potential endogenous ligand regulating osteogenesis. These data support a model that integrates Hh and Wnt signaling in the regulation of osteoblast development...
  35. ncbi Indian hedgehog synchronizes skeletal angiogenesis and perichondrial maturation with cartilage development
    Celine Colnot
    Department of Orthopaedic Surgery, University of California, San Francisco, California 94143 0514, USA
    Development 132:1057-67. 2005
    ....
  36. ncbi Canonical Wnt/beta-catenin signaling prevents osteoblasts from differentiating into chondrocytes
    Theo P Hill
    Research Institute for Molecular Pathology, Vienna, Austria
    Dev Cell 8:727-38. 2005
    ..Thus, canonical Wnt/beta-catenin signaling is essential for skeletal lineage differentiation, preventing transdifferentiation of osteoblastic cells into chondrocytes...
  37. 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
    ....
  38. ncbi Efficient method to generate single-copy transgenic mice by site-specific integration in embryonic stem cells
    Caroline Beard
    Whitehead Institute for Biomedical Research, Cambridge, Massachusetts 02142, USA
    Genesis 44:23-8. 2006
    ..This strategy and the vectors described here are generally applicable to any locus in ES cells and should allow for the rapid production of mice with transgenes efficiently targeted to a defined site...
  39. pmc Fibroblast growth factor receptor 1 signaling in the osteo-chondrogenic cell lineage regulates sequential steps of osteoblast maturation
    Anne L Jacob
    Department of Molecular Biology and Pharmacology, Washington University Medical School, Campus Box 8103, 660 S Euclid Avenue, St Louis, MO 63110, USA
    Dev Biol 296:315-28. 2006
    ..These data demonstrate that signaling through FGFR1 in osteoblasts is necessary to maintain the balance between bone formation and remodeling through a direct effect on osteoblast maturation...
  40. pmc A critical role for the membrane-type 1 matrix metalloproteinase in collagen phagocytosis
    Hyejin Lee
    Canadian Institutes of Health Research Group in Matrix Dynamics, Faculty of Dentistry, and Department of Biochemistry, Faculty of Medicine, University of Toronto, Toronto, Ontario M5S 3E2, Canada
    Mol Biol Cell 17:4812-26. 2006
    ..In contrast to MT1-MMP, the gelatinolytic activity of MMP-2 was not required for collagen phagocytosis. These studies demonstrate a pivotal role of catalytically active MT1-MMP in preparing collagen fibrils for phagocytic degradation...
  41. pmc Dominance of SOX9 function over RUNX2 during skeletogenesis
    Guang Zhou
    Howard Hughes Medical Institute and Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Proc Natl Acad Sci U S A 103:19004-9. 2006
    ..In summary, SOX9 is dominant over RUNX2 function in mesenchymal precursors that are destined for a chondrogenic lineage during endochondral ossification...
  42. pmc Cell autonomous requirement for TGF-beta signaling during odontoblast differentiation and dentin matrix formation
    Shoji Oka
    Center for Craniofacial Molecular Biology, School of Dentistry, University of Southern California, 2250 Alcazar Street, CSA 103, Los Angeles, CA 90033, USA
    Mech Dev 124:409-15. 2007
    ..5. Following kidney capsule transplantation, Tgfbr2 mutant tooth germs expressed a reduced level of Col1a1 and Dspp and exhibited defects including decreased dentin thickness and absent dentinal tubules...
  43. ncbi Developmental reprogramming after chromosome transfer into mitotic mouse zygotes
    Dieter Egli
    The Stowers Medical Institute, Harvard Stem Cell Institute and Department of Molecular and Cellular Biology, Harvard University, Cambridge, Massachusetts 02138, USA
    Nature 447:679-85. 2007
    ..Thus, human zygotes and perhaps human embryonic blastomeres may be useful supplements to human oocytes for the creation of patient-derived human embryonic stem cells...
  44. ncbi YAP1 increases organ size and expands undifferentiated progenitor cells
    Fernando D Camargo
    Whitehead Institute for Biomedical Research, Nine Cambridge Center, Cambridge, Massachusetts 02142, USA
    Curr Biol 17:2054-60. 2007
    ..Our data show that the Hippo signaling pathway regulates organ size in mammals and can act on stem cell compartments, indicating a potential link between stem/progenitor cells, organ size, and cancer...
  45. ncbi Snail1 is a transcriptional effector of FGFR3 signaling during chondrogenesis and achondroplasias
    Cristina A de Frutos
    Instituto de Neurociencias de Alicante, CSIC UMH, Apartado 18, San Juan de Alicante 03550, Spain
    Dev Cell 13:872-83. 2007
    ..Significantly, Snail1 is aberrantly upregulated in thanatophoric versus normal cartilages from stillborns. Thus, Snail activity may likely be considered a target for achondroplasia therapies...
  46. pmc ER stress-mediated apoptosis in a new mouse model of osteogenesis imperfecta
    Thomas S Lisse
    Institute of Experimental Genetics, Helmholtz Zentrum Munchen, German Research Center for Environmental Health, Neuherberg, Germany
    PLoS Genet 4:e7. 2008
    ..gene was mapped to Chromosome 11 by linkage analysis, and a C-terminal frameshift mutation was identified in the Col1a1 (procollagen type I, alpha 1) gene as the cause of the disorder...
  47. pmc Collagen density promotes mammary tumor initiation and progression
    Paolo P Provenzano
    Department of Pharmacology, University of Wisconsin, Madison, WI 53706, USA
    BMC Med 6:11. 2008
    ..Importantly, regions of high breast density are associated with increased stromal collagen. Thus, the influence of the extracellular matrix on breast carcinoma development and the underlying molecular mechanisms are not understood...
  48. pmc Analysis of histone 2B-GFP retention reveals slowly cycling hematopoietic stem cells
    Adlen Foudi
    Cancer Center, Massachusetts General Hospital, Harvard Medical School, 185 Cambridge Street, Boston, Massachusetts 02114, USA
    Nat Biotechnol 27:84-90. 2009
    ..8-1.8% per day)...
  49. pmc Oncogenic EGFR signaling cooperates with loss of tumor suppressor gene functions in gliomagenesis
    Haihao Zhu
    Molecular Oncology Research Institute, Department of Neurosurgery, Tufts University School of Medicine, Tufts Medical Center, 800 Washington Street, Boston, MA 02111, USA
    Proc Natl Acad Sci U S A 106:2712-6. 2009
    ..Our findings provide critical insights into the role of mutant EGFR signaling function in GBM tumor biology and set the stage for testing of targeted therapeutic agents in the preclinical models described herein...
  50. pmc Bone ridge patterning during musculoskeletal assembly is mediated through SCX regulation of Bmp4 at the tendon-skeleton junction
    Einat Blitz
    Department of Molecular Genetics, Weizmann Institute of Science, Rehovot 76100, Israel
    Dev Cell 17:861-73. 2009
    ..This study establishes a mechanistic basis for tendon-skeleton regulatory interactions during musculoskeletal assembly and bone secondary patterning...
  51. pmc Inhibition of ALK, PI3K/MEK, and HSP90 in murine lung adenocarcinoma induced by EML4-ALK fusion oncogene
    Zhao Chen
    Department of Medicine, Harvard Medical School, Boston, Massachusetts, USA
    Cancer Res 70:9827-36. 2010
    ..Taken together, our findings define a murine model that offers a reliable platform for the preclinical comparison of combinatorial treatment approaches for lung cancer characterized by ALK rearrangement...
  52. pmc Role of Indian hedgehog signaling in palatal osteogenesis
    Benjamin Levi
    Hagey Laboratory for Pediatric Regenerative Medicine, Department of Surgery, Plastic and Reconstructive Surgery Division, Stanford University School of Medicine, Stanford, Calif, USA
    Plast Reconstr Surg 127:1182-90. 2011
    ..The authors hypothesize that Indian hedgehog activity plays a role in osteogenesis within the secondary palate and that defects in this pathway may inhibit osteogenesis of the secondary palate...
  53. pmc Yap1 acts downstream of α-catenin to control epidermal proliferation
    Karin Schlegelmilch
    Stem Cell Program, Children s Hospital, Boston, MA 02115, USA
    Cell 144:782-95. 2011
    ..Together, these data identify Yap1 as a determinant of the proliferative capacity of epidermal stem cells and as an important effector of a "crowd control" molecular circuitry in mammalian skin...
  54. pmc A rapid and scalable system for studying gene function in mice using conditional RNA interference
    Prem K Premsrirut
    Cold Spring Harbor Laboratory, Cold Spring Harbor, NY 11724, USA
    Cell 145:145-58. 2011
    ..This system provides a cost-effective and scalable platform for the production of RNAi transgenic mice targeting any mammalian gene. PAPERCLIP:..
  55. pmc Reversible suppression of an essential gene in adult mice using transgenic RNA interference
    Katherine McJunkin
    Cold Spring Harbor Laboratory, Watson School of Biological Sciences, Cold Spring Harbor, NY 11724, USA
    Proc Natl Acad Sci U S A 108:7113-8. 2011
    ..Overall, we have established a robust system that serves the purpose of temperature-sensitive alleles in other model organisms, enabling inducible and reversible suppression of essential genes in a mammalian system...
  56. pmc Type I collagen cleavage is essential for effective fibrotic repair after myocardial infarction
    Zengxuan Nong
    Robarts Research Institute, University of Western Ontario, London, Ontario, Canada
    Am J Pathol 179:2189-98. 2011
    ..To test this, we undertook coronary artery occlusion in mice with a targeted mutation (Col1a1(r/r)) that yields collagenase-resistant type I collagen...
  57. pmc Spatial and temporal expression of molecular markers and cell signals during normal development of the mouse patellar tendon
    Chia Feng Liu
    Division of Developmental Biology, Cincinnati Children s Hospital Research Foundation, Cincinnati, OH 45229, USA
    Tissue Eng Part A 18:598-608. 2012
    ..These data will allow both the functional analysis of specific signaling pathways in tenocyte development and their application to tissue-engineering studies in vitro...
  58. pmc A pipeline for the generation of shRNA transgenic mice
    Lukas E Dow
    Cold Spring Harbor Laboratory, Cold Spring Harbor, New York, USA
    Nat Protoc 7:374-93. 2012
    ..mice that enables efficient and consistent targeting of doxycycline-regulated, fluorescence-linked shRNAs to the Col1a1 locus...
  59. pmc YAP1, the nuclear target of Hippo signaling, stimulates heart growth through cardiomyocyte proliferation but not hypertrophy
    Alexander von Gise
    Department of Cardiology and Stem Cell Program, Children s Hospital Boston, Boston, MA 02115, USA
    Proc Natl Acad Sci U S A 109:2394-9. 2012
    ..Activation of Yap1 in postnatal cardiomyocytes may be a useful strategy to stimulate cardiomyocyte expansion in therapeutic myocardial regeneration...
  60. pmc Pod1/Tcf21 is regulated by retinoic acid signaling and inhibits differentiation of epicardium-derived cells into smooth muscle in the developing heart
    Caitlin M Braitsch
    Division of Molecular Cardiovascular Biology, Cincinnati Children s Hospital Medical Center, ML 7020, 240 Albert Sabin Way, Cincinnati, OH 45229, USA
    Dev Biol 368:345-57. 2012
    ..Together, these data demonstrate a critical role for Pod1 in controlling mesenchymal progenitor cell differentiation into SM and fibroblast lineages during cardiac development...
  61. pmc The aged niche disrupts muscle stem cell quiescence
    Joe V Chakkalakal
    Center of Regenerative Medicine, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
    Nature 490:355-60. 2012
    ..These experiments identify an age-dependent change in the stem cell niche that directly influences stem cell quiescence and function...
  62. pmc Dose-dependent roles for canonical Wnt signalling in de novo crypt formation and cell cycle properties of the colonic epithelium
    Akihiro Hirata
    Division of Animal Experiment, Life Science Research Center, Gifu University, 1 1 Yanagido, Gifu, 501 1194, Japan
    Development 140:66-75. 2013
    ....
  63. pmc Variability of inducible expression across the hematopoietic system of tetracycline transactivator transgenic mice
    Megumi Takiguchi
    Molecular Medicine Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia
    PLoS ONE 8:e54009. 2013
    ....
  64. doi Control of retinoid levels by CYP26B1 is important for lymphatic vascular development in the mouse embryo
    Josephine Bowles
    Institute for Molecular Bioscience, The University of Queensland, Brisbane QLD 4072, Australia
    Dev Biol 386:25-33. 2014
    ..Our studies identify a genetic pathway that underpins the architecture of the developing lymphatics and define CYP26B1 as a novel modulator of lymphatic vascular patterning. ..
  65. ncbi Embryonic lethal mutation in mice induced by retrovirus insertion into the alpha 1(I) collagen gene
    A Schnieke
    Nature 304:315-20. 1983
    ..Insertion mutagenesis by retroviruses may offer a general approach to the identification and isolation of genes which are transcriptionally active during mammalian development...
  66. 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
    ..We introduced four single nucleotide (nt) changes into murine col1a1 exon 23: the disease causing G-->T transversion (nt 1546), an adjacent G-->T change (nt 1551) to generate a ..
  67. ncbi Germ line transmission of a yeast artificial chromosome spanning the murine alpha 1(I) collagen locus
    W M Strauss
    Whitehead Institute for Biomedical Research, Massachusetts Institute of Technology, Cambridge 02142
    Science 259:1904-7. 1993
    ..A purified 150-kilobase YAC encompassing the murine gene Col1a1 was efficiently introduced into embryonic stem (ES) cells via lipofection...
  68. ncbi Differential expression of elastin and alpha 1(I) collagen mRNA in mice with bleomycin-induced pulmonary fibrosis
    E C Lucey
    Boston VA Medical Center, MA 02130, USA
    Lab Invest 74:12-20. 1996
    ..In conclusion, lung elastin biosynthesis is markedly altered by bleomycin treatment. The localization and intensity of elastin mRNA expression is different from the expression of alpha 1(I) collagen mRNA...
  69. pmc Identification of a minimal sequence of the mouse pro-alpha 1(I) collagen promoter that confers high-level osteoblast expression in transgenic mice and that binds a protein selectively present in osteoblasts
    J A Rossert
    Department of Molecular Genetics, University of Texas, M D Anderson Cancer Center, Houston 77030, USA
    Proc Natl Acad Sci U S A 93:1027-31. 1996
    ..A mutation in the A segment that abolished the binding of this osteoblast-specific protein also abolished lacZ expression in osteoblasts of transgenic mice...
  70. ncbi Mutation in type II collagen gene disturbs spinal development and gene expression patterns in transgenic Del1 mice
    M Savontaus
    Department of Medical Biochemistry, University of Turku, Finland
    Lab Invest 77:591-600. 1997
    ..Many of these findings parallel those seen in human chondrodysplasias and help us to understand the pathogenetic mechanisms involved in these developmental abnormalities...
  71. 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...
  72. ncbi Defective paracrine signalling by TGFbeta in yolk sac vasculature of endoglin mutant mice: a paradigm for hereditary haemorrhagic telangiectasia
    Rita L C Carvalho
    Hubrecht Laboratory, Netherlands Institute for Developmental Biology, Uppsalalaan 8, 3584CT Utrecht, The Netherlands
    Development 131:6237-47. 2004
    ....
  73. pmc Genetically engineered resistance for MMP collagenases promotes abdominal aortic aneurysm formation in mice infused with angiotensin II
    Jun o Deguchi
    Cardiovascular Division, Brigham and Women s Hospital, Harvard Medical School, Boston, MA 02115, USA
    Lab Invest 89:315-26. 2009
    ..Optical analysis further indicated altered collagen fiber orientation in the adventitia of Col(R/R)/apoE(-/-) mice. These results demonstrate that collagen content regulates aortic biomechanical properties and influences AAA formation...
  74. doi Histidine-rich glycoprotein blocks collagen-binding integrins and adhesion of endothelial cells through low-affinity interaction with α2 integrin
    Francis Roche
    Uppsala University, Department of Immunology, Genetics and Pathology, The Rudbeck Laboratory, Dag Hammarskjöldv 20, 751 85 Uppsala, Sweden Electronic address
    Matrix Biol 48:89-99. 2015
    ..We conclude that HRG binds to α2 integrin through low-affinity interactions in a HS-independent manner, thereby blocking EC-adhesion to COL I. ..
  75. pmc Tissue- and stage-specific activation of an endogenous provirus after transcription through its integration site in the opposite orientation
    T Moser
    Institute of Molecular Biology, Austrian Academy of Sciences, Salzburg, Austria
    Mol Cell Biol 16:384-9. 1996
    ..Mov13 strain, which carries the Mo-MuLV provirus in inverted orientation in the first intron of a collagen gene (Col1a1) with well-characterized transcriptional activity...
  76. ncbi Regulation of the alpha 1(I) collagen promoter in vascular smooth muscle cells. Comparison with other alpha 1(I) collagen-producing cells in transgenic animals and cultured cells
    A Bedalov
    Department of Pediatrics, University of Connecticut Health Center, Farmington 06032
    J Biol Chem 269:4903-9. 1994
    ..6 transgene containing 3.5 kilobases (kb) of alpha 1(I) collagen (COL1A1) promoter sequence fused to the chloramphenicol acetyltransferase (CAT) reporter gene paralleled the expression of ..
  77. 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...
  78. pmc Role of GSK-3β in the osteogenic differentiation of palatal mesenchyme
    Emily R Nelson
    Hagey Laboratory for Pediatric Regenerative Medicine, Plastic and Reconstructive Surgery Division, Department of Surgery, Stanford University School of Medicine, Stanford, California, United States of America
    PLoS ONE 6:e25847. 2011
    ..Using GSK-3ß null mouse embryos, we examine the potential coordinate roles of Wnt and Hedgehog signaling on palatal ossification...
  79. doi Krüppel-like factor 4 regulates membranous and endochondral ossification
    Ikumi Michikami
    Department of Oral Anatomy and Developmental Biology, Osaka University Graduate School of Dentistry, Yamadaoka 1 8, Suita, Osaka, 565 0871, Japan
    Exp Cell Res 318:311-25. 2012
    ..Our results demonstrate that Klf4 regulates normal skeletal development through coordinating the differentiation and migration of osteoblasts, chondrocytes, vascular endothelial cells and osteoclasts...
  80. 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...
  81. pmc A comprehensive genetic map of murine chromosome 11 reveals extensive linkage conservation between mouse and human
    A M Buchberg
    Mammalian Genetics Laboratory, NCI Frederick Cancer Research Facility, Maryland 21701
    Genetics 122:153-61. 1989
    ....
  82. 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...
  83. ncbi Cooperation of Hoxa5 and Pax1 genes during formation of the pectoral girdle
    Josée Aubin
    Centre de recherche en cancérologie de l Université Laval, Centre Hospitalier Universitaire de Quebec, L Hôtel Dieu de Québec, Quebec, G1R 2J6, Canada
    Dev Biol 244:96-113. 2002
    ..Hoxa5 also has a distinctive role in specifying the fate of perichondrial and chondrogenic cell lineages in a Sox9-dependent way...
  84. ncbi Histone deacetylase 4 controls chondrocyte hypertrophy during skeletogenesis
    Rick B Vega
    Department of Molecular Biology, University of Texas Southwestern Medical Center, 6000 Harry Hines Boulevard, Dallas, TX 75390, USA
    Cell 119:555-66. 2004
    ..These results establish HDAC4 as a central regulator of chondrocyte hypertrophy and skeletogenesis and suggest general roles for class II HDACs in the control of cellular hypertrophy...
  85. 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...
  86. 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
    ..an intracellular protein, 47% of the positive clones were genes encoding extracellular matrix proteins, including Col1a1, Col1a2, Fbln2, and Rpsa...
  87. 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...
  88. pmc SM22alpha-targeted deletion of bone morphogenetic protein receptor 1A in mice impairs cardiac and vascular development, and influences organogenesis
    Nesrine El-Bizri
    Cardiopulmonary Research Program, Vera Moulton Wall Center for Pulmonary Vascular Disease, Stanford University School of Medicine, Stanford, California, CA, USA
    Development 135:2981-91. 2008
    ..Thus, loss of Bmpr1a, by decreasing MMP2 and/or MMP9 activity, can account for vascular dilatation and persistence of brain microvessels, leading to the impaired organogenesis documented in the brain...
  89. doi The distinct role of the Runx proteins in chondrocyte differentiation and intervertebral disc degeneration: findings in murine models and in human disease
    Shingo Sato
    Tokyo Medical and Dental University, Tokyo, Japan
    Arthritis Rheum 58:2764-75. 2008
    ....
  90. pmc Increased skeletal VEGF enhances beta-catenin activity and results in excessively ossified bones
    Christa Maes
    Laboratory of Experimental Medicine and Endocrinology, Department of Experimental Medicine, KU Leuven, Leuven, Belgium
    EMBO J 29:424-41. 2010
    ..Moreover, the finding that VEGF can modulate beta-catenin activity may have widespread physiological and clinical ramifications...
  91. 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...
  92. doi Nucleoredoxin sustains Wnt/β-catenin signaling by retaining a pool of inactive dishevelled protein
    Yosuke Funato
    Laboratory of Intracellular Signaling, Institute for Protein Research, Osaka University, Suita, Osaka 565 0871, Japan
    Curr Biol 20:1945-52. 2010
    ..These findings reveal an unexpected function of NRX, retaining a pool of inactive Dvl for robust activation of Wnt/β-catenin signaling upon Wnt stimulation...
  93. doi Early onset of Runx2 expression caused craniosynostosis, ectopic bone formation, and limb defects
    Takafumi Maeno
    Department of Cell Biology, Unit of Basic Medical Sciences, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki 852 8588, Japan
    Bone 49:673-82. 2011
    ..5. Col1a1 and Spp1 expressions were detected in the mineralized regions on E12.5-13.5...
  94. ncbi Germline integration of moloney murine leukemia virus at the Mov13 locus leads to recessive lethal mutation and early embryonic death
    R Jaenisch
    Cell 32:209-16. 1983
    ..no homozygous offspring or embryos older than day 15 of gestation were obtained from parents heterozygous at the Mov13 locus...
  95. ncbi Age-related changes in collagen gene expression in the muscles of mdx dystrophic and normal mice
    G Goldspink
    Department of Anatomy and Developmental Biology, Royal Free Hospital School of Medicine, University of London, UK
    Neuromuscul Disord 4:183-91. 1994
    ....
  96. ncbi Early determination and permissive expression of amelogenin transcription during mouse mandibular first molar development
    R I Couwenhoven
    Center for Craniofacial Molecular Biology, University of Southern California School of Dentistry, Los Angeles 90033
    Dev Biol 164:290-9. 1994
    ....
  97. 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
    ..We have characterized a tandem duplication mutation within a COL1A1 allele of type I collagen from an infant with the lethal form of osteogenesis imperfecta...
  98. pmc Phenotypic variability and incomplete penetrance of spontaneous fractures in an inbred strain of transgenic mice expressing a mutated collagen gene (COL1A1)
    R Pereira
    Department of Biochemistry and Molecular Biology, Jefferson Institute of Molecular Medicine, Jefferson Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania 19107
    J Clin Invest 93:1765-9. 1994
    ..of transgenic mice expressing an internally deleted gene for the pro alpha 1(I) chain of type I procollagen (COL1A1) was bred to wild type mice of the same strain so that the inheritance of a fracture phenotype could be examined ..
  99. pmc Nuclear factor binding to an AP-1 site is associated with the activation of pro-alpha 1(I)-collagen gene in dedifferentiating chondrocytes
    A Maatta
    Department of Medical Biochemistry, University of Turku, Finland
    Biochem J 294:365-71. 1993
    ..These data suggest that the AP-1 sequence and its respective trans-acting factors may play a role in the transcriptional regulation of the alpha 1(I) collagen gene during dedifferentiation of chondrocytes...
  100. ncbi Somatic cell hybrid mapping on mouse chromosome 11 (MMU11): assignment of markers relative to two breakpoints in band D
    D J Morris
    Mammal Research Institute, University of Pretoria, South Africa
    Genomics 15:323-31. 1993
    ....
  101. ncbi Bone fragility in transgenic mice expressing a mutated gene for type I procollagen (COL1A1) parallels the age-dependent phenotype of human osteogenesis imperfecta
    R F Pereira
    Department of Biochemistry and Molecular Biology, Jefferson Institute of Molecular Medicine, Jefferson Medical College of Thomas Jefferson University, Philadelphia, Pennsylvania, USA
    J Bone Miner Res 10:1837-43. 1995
    ..that bound to and produced degradation of normal pro alpha 1(I) chains synthesized from the endogenous mouse COL1A1 gene. For this study, femurs from transgenic mice ranging in age from 0.5-24 months were examined...

Research Grants3

  1. BIOGENESIS AND FUNCTION OF CONNECTIVE TISSUE PROTEINS
    Paul Bornstein; Fiscal Year: 2004
    ..It is anticipated that some of the mutations created in mice will generate useful models for human disorders of these tissues, specifically some of the Ehlers-Danlos syndromes and osteoporosis. ..
  2. EXTRACELLULAR MATRIX IN MICE LACKING THROMBOSPONDIN 2
    Paul Bornstein; Fiscal Year: 2006
    ..These experiments have the potential to develop the means to improve wound healing, and the performance of implanted biosensors and delivery devices, in human subjects. ..
  3. 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. ..