Acan

Summary

Gene Symbol: Acan
Description: aggrecan
Alias: Agc, Agc1, Cspg1, b2b183Clo, cmd, aggrecan core protein, CSPCP, aggrecan 1, cartilage-specific proteoglycan core protein
Species: mouse

Top Publications

  1. ncbi Fibulin-1 is a ligand for the C-type lectin domains of aggrecan and versican
    A Aspberg
    Department of Cell and Molecular Biology, Section for Connective Tissue Biology, Lund University, P O Box 94, SE 221 00 Lund, Sweden
    J Biol Chem 274:20444-9. 1999
  2. ncbi Mice lacking matrilin-1 (cartilage matrix protein) have alterations in type II collagen fibrillogenesis and fibril organization
    X Huang
    Cutaneous Biology Research Center, Massachusetts General Hospital, Harvard Medical School, Charlestown 02129, USA
    Dev Dyn 216:434-41. 1999
  3. ncbi Identification of an osteogenic protein-1 responsive element in the aggrecan promoter
    Lee Chuan C Yeh
    Department of Biochemistry, The University of Texas Health Science Center, San Antonio, TX, USA
    Biochem Biophys Res Commun 323:223-8. 2004
  4. ncbi Maintenance of chondroitin sulfation balance by chondroitin-4-sulfotransferase 1 is required for chondrocyte development and growth factor signaling during cartilage morphogenesis
    Michael Klüppel
    Programme in Molecular Biology and Cancer, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, 600 University Avenue, Toronto, Ontario M5G 1X5, Canada
    Development 132:3989-4003. 2005
  5. ncbi Chondroitin sulfate N-acetylgalactosaminyltransferase-1 plays a critical role in chondroitin sulfate synthesis in cartilage
    Kenichiro Sakai
    Institute for Molecular Science of Medicine, Aichi Medical University, Nagakute, Aichi 480 1195, Japan
    J Biol Chem 282:4152-61. 2007
  6. ncbi Analysis of aggrecan and tenascin gene expression in mouse skeletal tissues by northern and in situ hybridization using species specific cDNA probes
    V Glumoff
    University of Turku, Department of Molecular Biology and Medical Biochemistry, Finland
    Biochim Biophys Acta 1219:613-22. 1994
  7. ncbi Mouse cartilage matrix deficiency (cmd) caused by a 7 bp deletion in the aggrecan gene
    H Watanabe
    Laboratory of Developmental Biology, National Institute of Dental Research, National Institutes of Health, Bethesda, Maryland 20892
    Nat Genet 7:154-7. 1994
  8. pmc Dwarfism and age-associated spinal degeneration of heterozygote cmd mice defective in aggrecan
    H Watanabe
    Craniofacial Developmental Biology and Regeneration Branch, National Institute of Dental Research, National Institutes of Health, Bethesda, MD 20892 4370, USA
    Proc Natl Acad Sci U S A 94:6943-7. 1997
  9. ncbi Murine models of human genetic skeletal disorders
    Y Li
    Department of Cell Biology, Harvard Medical School, Boston, Massachusetts, USA
    Matrix Biol 16:49-52. 1997
  10. 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

Research Grants

Scientific Experts

Detail Information

Publications115 found, 100 shown here

  1. ncbi Fibulin-1 is a ligand for the C-type lectin domains of aggrecan and versican
    A Aspberg
    Department of Cell and Molecular Biology, Section for Connective Tissue Biology, Lund University, P O Box 94, SE 221 00 Lund, Sweden
    J Biol Chem 274:20444-9. 1999
    ..No difference in affinity was found for deglycosylated fibulin-1, indicating that the proteoglycan C-type lectin domains bind to the protein part of fibulin-1...
  2. ncbi Mice lacking matrilin-1 (cartilage matrix protein) have alterations in type II collagen fibrillogenesis and fibril organization
    X Huang
    Cutaneous Biology Research Center, Massachusetts General Hospital, Harvard Medical School, Charlestown 02129, USA
    Dev Dyn 216:434-41. 1999
    ....
  3. ncbi Identification of an osteogenic protein-1 responsive element in the aggrecan promoter
    Lee Chuan C Yeh
    Department of Biochemistry, The University of Texas Health Science Center, San Antonio, TX, USA
    Biochem Biophys Res Commun 323:223-8. 2004
    ..Thus, the expression of the mouse aggrecan gene in response to BMPs appears to be the result of a unique combination of different cis-acting elements...
  4. ncbi Maintenance of chondroitin sulfation balance by chondroitin-4-sulfotransferase 1 is required for chondrocyte development and growth factor signaling during cartilage morphogenesis
    Michael Klüppel
    Programme in Molecular Biology and Cancer, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, 600 University Avenue, Toronto, Ontario M5G 1X5, Canada
    Development 132:3989-4003. 2005
    ..Our study demonstrates an important biological role of differential chondroitin sulfation in mammalian development...
  5. ncbi Chondroitin sulfate N-acetylgalactosaminyltransferase-1 plays a critical role in chondroitin sulfate synthesis in cartilage
    Kenichiro Sakai
    Institute for Molecular Science of Medicine, Aichi Medical University, Nagakute, Aichi 480 1195, Japan
    J Biol Chem 282:4152-61. 2007
    ..Its expression in chondrogenic ATDC5 cells correlated well with that of aggrecan core protein. In heterozygote and homozygote aggrecan-null cartilage where aggrecan transcription is decreased, ..
  6. ncbi Analysis of aggrecan and tenascin gene expression in mouse skeletal tissues by northern and in situ hybridization using species specific cDNA probes
    V Glumoff
    University of Turku, Department of Molecular Biology and Medical Biochemistry, Finland
    Biochim Biophys Acta 1219:613-22. 1994
    ..None of these cells expressed the cartilage specific collagen or aggrecan genes. The results further suggest different patterns of gene expression in chondrocytes based on their location in the different cartilages...
  7. ncbi Mouse cartilage matrix deficiency (cmd) caused by a 7 bp deletion in the aggrecan gene
    H Watanabe
    Laboratory of Developmental Biology, National Institute of Dental Research, National Institutes of Health, Bethesda, Maryland 20892
    Nat Genet 7:154-7. 1994
    Mouse cartilage matrix deficiency (cmd) is an autosomal recessive mutation characterized by cleft palate, short limbs, tail and snout...
  8. pmc Dwarfism and age-associated spinal degeneration of heterozygote cmd mice defective in aggrecan
    H Watanabe
    Craniofacial Developmental Biology and Regeneration Branch, National Institute of Dental Research, National Institutes of Health, Bethesda, MD 20892 4370, USA
    Proc Natl Acad Sci U S A 94:6943-7. 1997
    Mouse cartilage matrix deficiency (cmd) is an autosomal recessive disorder caused by a genetic defect of aggrecan, a large chondroitin sulfate proteoglycan in cartilage...
  9. ncbi Murine models of human genetic skeletal disorders
    Y Li
    Department of Cell Biology, Harvard Medical School, Boston, Massachusetts, USA
    Matrix Biol 16:49-52. 1997
    ..mouse mutants chondrodysplasia (cho), disproportionate micromelia (Dmm) and cartilage matrix deficiency (cmd)...
  10. 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
    Chondrodysplasia in the autosomal recessive cartilage matrix deficiency (cmd) mutant is caused by lack of the proteoglycan aggrecan arising from a mutation in the gene...
  11. 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
    ....
  12. 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...
  13. 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...
  14. ncbi The type I BMP receptor BMPRIB is required for chondrogenesis in the mouse limb
    S E Yi
    Department of Orthopaedic Surgery, University of California, Los Angeles, CA 90095, USA
    Development 127:621-30. 2000
    ..Therefore, rather than having a unique role, BMPRIB has broadly overlapping functions with other BMP receptors during skeletal development...
  15. ncbi Lecticans: organizers of the brain extracellular matrix
    Y Yamaguchi
    The Burnham Institute, La Jolla, California 92037, USA
    Cell Mol Life Sci 57:276-89. 2000
    ..We propose that the hyaluronan-lectican-tenascin-R complex constitutes the core assembly of the adult brain extracellular matrix, which is found mainly in pericellular spaces of neurons as 'perineuronal nets'...
  16. 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...
  17. pmc Connective tissue growth factor coordinates chondrogenesis and angiogenesis during skeletal development
    Sanja Ivkovic
    Department of Orthopaedic Surgery, David Geffen School of Medicine at UCLA, University of California, Los Angeles, CA 90095, USA
    Development 130:2779-91. 2003
    ..These results demonstrate that CTGF is important for cell proliferation and matrix remodeling during chondrogenesis, and is a key regulator coupling extracellular matrix remodeling to angiogenesis at the growth plate...
  18. ncbi Molecular cloning of Bral2, a novel brain-specific link protein, and immunohistochemical colocalization with brevican in perineuronal nets
    Yoko Bekku
    Department of Molecular Biology and Biochemistry, Okayama University Graduate School of Medicine and Dentistry, Okayama 700 8558, Japan
    Mol Cell Neurosci 24:148-59. 2003
    ..Our results suggest that Bral2 is involved in the formation of extracellular matrix contributing to perineuronal nets and facilitate the understanding of a functional role of these extracellular matrices...
  19. pmc The secreted glycoprotein lubricin protects cartilage surfaces and inhibits synovial cell overgrowth
    David K Rhee
    Department of Genetics, Center for Human Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, Cleveland, Ohio 44106, USA
    J Clin Invest 115:622-31. 2005
    ..We conclude that lubricin has multiple functions in articulating joints and tendons that include the protection of surfaces and the control of synovial cell growth...
  20. ncbi Sensory deprivation alters aggrecan and perineuronal net expression in the mouse barrel cortex
    Paulette A McRae
    Department of Neurobiology, Yale University School of Medicine, New Haven, Connecticut 06520, USA
    J Neurosci 27:5405-13. 2007
    ....
  21. 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...
  22. doi Regulation of endoplasmic reticulum stress response by a BBF2H7-mediated Sec23a pathway is essential for chondrogenesis
    Atsushi Saito
    Division of Molecular and Cellular Biology, Department of Anatomy, Faculty of Medicine, University of Miyazaki, 5200 Kihara, Kiyotake, Miyazaki 889 1692, Japan
    Nat Cell Biol 11:1197-204. 2009
    ..Our findings provide a new link by which ER stress is converted to signalling for the activation of ER-to-Golgi trafficking...
  23. pmc Generation of aggrecan-CreERT2 knockin mice for inducible Cre activity in adult cartilage
    Stephen P Henry
    Department of Genetics, The University of Texas M D Anderson Cancer Center, Houston, Texas, USA
    Genesis 47:805-14. 2009
    ..inducible Cre recombinase construct, CreERT2, in the 3' untranslated region of the endogenous mouse aggrecan gene (Agc1(tm(IRES-creERT2)))...
  24. doi Perineuronal net formation and structure in aggrecan knockout mice
    K A Giamanco
    Department of Neuroscience and Physiology, State University of New York Upstate Medical University, Syracuse, NY 13210, USA
    Neuroscience 170:1314-27. 2010
    ..In order to assess the contribution of aggrecan to PNN formation, we utilized cartilage matrix deficiency (cmd) mice, which lack aggrecan...
  25. 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...
  26. ncbi Sox5 and Sox6 are required for notochord extracellular matrix sheath formation, notochord cell survival and development of the nucleus pulposus of intervertebral discs
    Patrick Smits
    Department of Biomedical Engineering and Orthopaedic Research Center, Cleveland Clinic Foundation, 9500 Euclid Avenue, Cleveland, OH 44195, USA
    Development 130:1135-48. 2003
    ..Through these roles and essential roles in cartilage formation, they are central transcriptional regulators of vertebral column development...
  27. ncbi Cartilage matrix deficiency (cmd): a new autosomal recessive lethal mutation in the mouse
    E Rittenhouse
    J Embryol Exp Morphol 43:71-84. 1978
    A new autosomal recessive lethal mutation in the mouse designated cartilage matrix deficiency (cmd) is described...
  28. pmc Stage-specific apoptosis, developmental delay, and embryonic lethality in mice homozygous for a targeted disruption in the murine Bloom's syndrome gene
    N Chester
    Howard Hughes Medical Institute, Brigham and Women s Hospital, Harvard Medical School, Boston, Massachusetts 02115 USA
    Genes Dev 12:3382-93. 1998
    ..Both the apoptotic wave and the appearance of micronuclei in red blood cells are likely cellular consequences of damaged DNA caused by effects on replicating or segregating chromosomes...
  29. ncbi Comparison of expression patterns between CREB family transcription factor OASIS and proteoglycan core protein genes during murine tooth development
    Tsuyoshi Hikake
    Department of Cell Science, Institute of Biomedical Sciences, Fukushima Medical University School of Medicine, 960 1295 Fukushima, Japan
    Anat Embryol (Berl) 206:373-80. 2003
    ..These results suggest that the OASIS gene might be related to proteoglycan expression and may play an important role in the differentiation of the odontoblast and cells in inner enamel epithelium...
  30. ncbi Chondrogenic differentiation during midfacial development in the mouse: in vivo and in vitro studies
    M I Pavlov
    Laboratoire Biologie Orofaciale et Pathologie, Inserm E110, Universite Paris 7, UFR d Odontologie, Institut Biomedical des Cordeliers, Esc E 2e étage, 15 21, rue de l Ecole de Medecine, 75270 cedex 6, Paris, France
    Biol Cell 95:75-86. 2003
    ..Results from this study provide useful tools to further investigate morphogenesis and differentiation of the cartilaginous nasal capsule, and could in the future serve as a basic developmental standard...
  31. pmc In situ hybridization and immunohistochemistry of versican, aggrecan and link protein, and histochemistry of hyaluronan in the developing mouse limb bud cartilage
    S Shibata
    Maxillofacial Anatomy, Department of Maxillofacial Biology, Graduate School, Tokyo Medical and Dental University, Tokyo, Japan
    J Anat 203:425-32. 2003
    ..In particular, only a link protein-positive region was present in the marginal area of the metaphysis and the epiphysis at this stage. This finding may indicate a novel role for link protein...
  32. ncbi Mice lacking the extracellular matrix adaptor protein matrilin-2 develop without obvious abnormalities
    Lajos Mátés
    Institute of Biochemistry, Biological Research Center of the Hungarian Academy of Sciences, H 6701 Szeged, Hungary
    Matrix Biol 23:195-204. 2004
    ....
  33. doi High levels of serum IL-18 promote cartilage loss through suppression of aggrecan synthesis
    Hidetake Inoue
    Department of Orthopedics, Kurume University School of Medicine, 67 Ashahi machi, Kurume 830 0011, Japan
    Bone 42:1102-10. 2008
    ..Thus IL-18 may play an important role in the pathogenesis of articular cartilage loss in osteoarthritis...
  34. pmc An in situ hybridization study of Runx2, Osterix, and Sox9 in the anlagen of mouse mandibular condylar cartilage in the early stages of embryogenesis
    Shunichi Shibata
    Division of Histology, Department of Oral Growth and Development, School of Dentistry, Health Sciences University of Hokkaido, Hokkaido, Japan
    J Anat 213:274-83. 2008
    ....
  35. pmc Global comparative transcriptome analysis of cartilage formation in vivo
    Trevor L Cameron
    Murdoch Childrens Research Institute and Department of Paediatrics, University of Melbourne, Royal Children s Hospital, Parkville, Victoria 3052, Australia
    BMC Dev Biol 9:20. 2009
    ..Regulation of the onset of chondrogenesis is incompletely understood, and would be informed by comprehensive analyses of in vivo gene expression...
  36. pmc Ets1 is required for proper migration and differentiation of the cardiac neural crest
    Zhiguang Gao
    Department of Medicine, The University of Chicago, Chicago, IL 60637, USA
    Development 137:1543-51. 2010
    ....
  37. pmc Versican facilitates chondrocyte differentiation and regulates joint morphogenesis
    Kanyamas Choocheep
    Institute for Molecular Science of Medicine, Aichi Medical University, Karimata 21, Yazako, Nagakute, Aichi 480 1195, Japan
    J Biol Chem 285:21114-25. 2010
    ..These results suggest that versican facilitates chondrogenesis and joint morphogenesis, by localizing TGF-beta in the extracellular matrix and regulating its signaling...
  38. pmc The retinal pigment epithelium of the eye regulates the development of scleral cartilage
    H Thompson
    Department of Veterinary Basic Science, Royal Veterinary College, London, NW1 0TU, UK
    Dev Biol 347:40-52. 2010
    ..These data reveal the course of scleral cartilage formation and highlight the key role that the optic cup plays in this process. The driving element within the optic cup is almost certainly the retinal pigmented epithelium...
  39. doi Hyaluronan production by means of Has2 gene expression in chondrocytes is essential for long bone development
    Pierre Moffatt
    Genetics Unit, Shriners Hospital for Children, Montreal, Quebec, Canada
    Dev Dyn 240:404-12. 2011
    ..Thus, hyaluronan production by chondrocytes is not only essential for formation of an organized growth plate and subsequent long bone growth but also for normal modeling of the diaphyseal bone...
  40. pmc Adamts5 deletion blocks murine dermal repair through CD44-mediated aggrecan accumulation and modulation of transforming growth factor β1 (TGFβ1) signaling
    Jennifer Velasco
    Departments of Biochemistry, Rush UniversityMedical Center, Chicago, Illinois 60612, USA
    J Biol Chem 286:26016-27. 2011
    ..Thus, the capacity of ADAMTS5 to modulate critical tissue repair signaling events suggests a unique role for this enzyme, which sets it apart from other members of the ADAMTS family of proteases...
  41. doi Impaired intervertebral disc development and premature disc degeneration in mice with notochord-specific deletion of CCN2
    Jake Bedore
    Schulich School of Medicine and Dentistry, University of Western Ontario, London, Ontario, Canada
    Arthritis Rheum 65:2634-44. 2013
    ....
  42. pmc Antigen-specific B lymphocytes acquire proteoglycan aggrecan from cartilage extracellular matrix resulting in antigen presentation and CD4+ T-cell activation
    Marzena Ciechomska
    Institute of Cellular Medicine, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK
    Immunology 141:70-8. 2014
    ..Our findings lead us to propose that the acquisition of ECM-derived autoantigens represents a mechanism that defines the APC requirement for B cells in the development of autoimmunity. ..
  43. doi Arid5b facilitates chondrogenesis by recruiting the histone demethylase Phf2 to Sox9-regulated genes
    Kenji Hata
    1 Department of Molecular and Cellular Biochemistry, Osaka University Graduate School of Dentistry, Suita, Osaka 565 0871, Japan 2
    Nat Commun 4:2850. 2013
    ..Our findings establish an epigenomic mechanism of skeletal development, whereby Arid5b promotes chondrogenesis by facilitating Phf2-mediated histone demethylation of Sox9-regulated chondrogenic gene promoters. ..
  44. pmc Interaction between Foxc1 and Fgf8 during mammalian jaw patterning and in the pathogenesis of syngnathia
    Kimberly E Inman
    Stowers Institute for Medical Research, Kansas City, Missouri, United States of America
    PLoS Genet 9:e1003949. 2013
    ..Furthermore, our work provides a framework for understanding jaw patterning and the etiology of other congenital craniofacial anomalies, including temporomandibular joint agenesis. ..
  45. pmc Genetic dissection of plexin signaling in vivo
    Thomas Worzfeld
    Department of Pharmacology, Max Planck Institute for Heart and Lung Research, 61231 Bad Nauheim, Germany
    Proc Natl Acad Sci U S A 111:2194-9. 2014
    ..Our genetic analyses uncover the in vivo context-dependence and functional specificity of individual plexin-mediated signaling pathways during development. ..
  46. pmc Aggrecan, link protein and tenascin-R are essential components of the perineuronal net to protect neurons against iron-induced oxidative stress
    A Suttkus
    University of Leipzig, Department for Molecular and Cellular Mechanisms of Neurodegeneration, Paul Flechsig Institute for Brain Research, Jahnallee 59, Leipzig 04109, Germany
    Cell Death Dis 5:e1119. 2014
    ....
  47. pmc Cav3.2 T-type calcium channel is required for the NFAT-dependent Sox9 expression in tracheal cartilage
    Shin Shiou Lin
    Institute of Molecular Medicine, National Tsing Hua University, Hsinchu 30013, Taiwan Institute of Biomedical Sciences, Academia Sinica, Taipei 11529, Taiwan
    Proc Natl Acad Sci U S A 111:E1990-8. 2014
    ..Our findings define a previously unidentified mechanism that Ca(2+) influx via the Cav3.2 T-type Ca(2+) channel regulates Sox9 expression through the calcineurin/NFAT signaling pathway during tracheal chondrogenesis. ..
  48. pmc Identification of novel SHOX target genes in the developing limb using a transgenic mouse model
    Katja U Beiser
    Department of Human Molecular Genetics, Heidelberg University Hospital, Heidelberg, Germany
    PLoS ONE 9:e98543. 2014
    ..This finding was confirmed in human NHDF and U2OS cells and chicken micromass culture, demonstrating the value of the SHOX-transgenic mouse for the characterization of SHOX-dependent genes and pathways in early limb development. ..
  49. pmc A subset of chondrogenic cells provides early mesenchymal progenitors in growing bones
    Noriaki Ono
    1 Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114, USA 2 Department of Orthodontics and Pediatric Dentistry, University of Michigan School of Dentistry, Ann Arbor, Michigan 48109, USA
    Nat Cell Biol 16:1157-67. 2014
    ..creER system further revealed that early postnatal cells marked by Col2-creER, as well as Sox9-creER and aggrecan (Acan)-creER, progressively contributed to multiple mesenchymal lineages and continued to provide descendants for over a ..
  50. pmc Pathophysiological role of vascular smooth muscle alkaline phosphatase in medial artery calcification
    Campbell R Sheen
    Sanford Children s Health Research Center, Sanford Burnham Medical Research Institute, La Jolla, CA, USA
    J Bone Miner Res 30:824-36. 2015
    ..This study shows that TNAP in the vasculature contributes to the pathology of MVC and that it is a druggable target...
  51. pmc An in situ hybridization study of perlecan, DMP1, and MEPE in developing condylar cartilage of the fetal mouse mandible and limb bud cartilage
    K Fujikawa
    Tokyo Medical and Dental University
    Eur J Histochem 59:2553. 2015
    ..Ultimately, we could not designate MEPE as a marker molecule for cartilage, and would modify our original hypothesis. ..
  52. doi Dislocated Tongue Muscle Attachment and Cleft Palate Formation
    T Kouskoura
    Department of Orthodontics and Dentofacial Orthopedics, School of Dental Medicine, University of Bern, Bern, Switzerland
    J Dent Res 95:453-9. 2016
    ..We thus propose that in Pierre Robin sequence, palatal shelf elevation is not impaired simply by physical obstruction by the tongue but by a specific developmental defect that leads to functional changes in tongue movements. ..
  53. pmc TGF beta 1 inhibits Ca2+-calcineurin-mediated activation in thymocytes
    Ramireddy Bommireddy
    Department of Molecular Genetics, Biochemistry and Microbiology, University of Cincinnati College of Medicine, Cincinnati, OH 45267 0524, USA
    J Immunol 170:3645-52. 2003
    ..Consequently, TGFbeta1 prevents autoimmune disease through a Ca(2+) regulatory pathway that maintains the activation threshold above that inducible by self-MHC-TCR interactions...
  54. ncbi Fibulin-1 acts as a cofactor for the matrix metalloprotease ADAMTS-1
    Nathan V Lee
    Department of Molecular, Cell, and Developmental Biology and Molecular Biology Institute, University of California, Los Angeles, Los Angeles, California 90095, USA
    J Biol Chem 280:34796-804. 2005
    ..Together, these findings indicate that fibulin-1 is a new regulator of ADAMTS-1-mediated proteoglycan proteolysis and thus may play an important role in proteoglycan turnover in tissues where there is overlapping expression...
  55. pmc Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210
    Patrick Smits
    Orthopedic Research Laboratories, Department of Orthopedic Surgery, Children s Hospital, Boston, MA 02115, USA
    N Engl J Med 362:206-16. 2010
    ..Establishing the genetic basis of phenotypes such as skeletal dysplasia in model organisms can provide insights into biologic processes and their role in human disease...
  56. pmc RPTPζ/phosphacan is abnormally glycosylated in a model of muscle-eye-brain disease lacking functional POMGnT1
    C A Dwyer
    The Department of Neuroscience and Physiology, SUNY Upstate Medical University, Syracuse, NY 13210, USA
    Neuroscience 220:47-61. 2012
    ..several labs indicated that other proteins in the brain are also O-mannosylated and therefore could contribute to CMD pathology in patients with mutations in the protein O-mannosylation pathway, however few of these proteins have ..
  57. pmc Sonic hedgehog signaling directly targets Hyaluronic Acid Synthase 2, an essential regulator of phalangeal joint patterning
    Jiang Liu
    Department of Cell and Developmental Biology, Vanderbilt University Medical Center, Nashville, TN 37232, USA
    Dev Biol 375:160-71. 2013
    ..Together, our study identifies Has2 as a novel downstream target of Shh signaling required for joint patterning and chondrogenesis...
  58. ncbi New genetic approaches to craniofacial growth and malformation in the mouse
    K S Brown
    Laboratory of Developmental Biology and Anomalies, National Institute of Dental Research, National Institutes of Health, Bethesda, MD 20892
    J Craniofac Genet Dev Biol 11:357-65. 1991
    ..We have studied the cartilage matrix deficiency (cmd/cmd) mutant mouse and found that their chondrocytes fail to synthesize the cartilage-specific proteoglycan at both ..
  59. ncbi Mouse clavicular development: analysis of wild-type and cleidocranial dysplasia mutant mice
    L F Huang
    Department of Cell Biology, Harvard Medical School, Boston, Massachusetts 02115, USA
    Dev Dyn 210:33-40. 1997
    ..In the medial portion, type II collagen expression and endochondral ossification never occurs in Ccd mice; this portion of the clavicle is therefore missing in Ccd...
  60. ncbi Overexpression of a single helix-loop-helix-type transcription factor, scleraxis, enhances aggrecan gene expression in osteoblastic osteosarcoma ROS17/2.8 cells
    Y Liu
    Department of Molecular Pharmacology, Division of Functional Disorder Research, Medical Research Institute, Tokyo Medical and Dental University, 3 10 Kanda Surugadai 2 Chome, Chiyoda ku, Tokyo 101, Japan
    J Biol Chem 272:29880-5. 1997
    ..These results indicate that overexpression of a single helix-loop-helix-type transcription factor, scleraxis, enhances aggrecan gene expression via binding to the E-box-containing AgE sequence in ROS17/2.8 cells...
  61. ncbi Cis-acting regulation of splenic Art2 gene expression in inbred mouse strains
    D F Sardinha
    Department of Pathology, University of Connecticut Health Center, Department of Pathology MC 3105, 263 Farmington Avenue, Farmington, CT 06030 3105, USA
    Immunogenetics 49:700-3. 1999
  62. 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...
  63. ncbi Distribution of cartilage molecules in the developing mouse joint
    J M Murphy
    Osiris Therapeutics Inc, Baltimore, MD 21231, USA
    Matrix Biol 18:487-97. 1999
    ..Fibromodulin may function in the early genesis of articular cartilage and COMP may be associated with elaboration of a weight-bearing chondrocyte matrix...
  64. ncbi Targeted disruption of the homeobox transcription factor Bapx1 results in lethal skeletal dysplasia with asplenia and gastroduodenal malformation
    H Akazawa
    Department of Cell Biology, The Cancer Institute, Japanese Foundation for Cancer Research, 1 37 1 Kami Ikebukuro, Toshima ku, Tokyo 170 8455, Japan
    Genes Cells 5:499-513. 2000
    ....
  65. ncbi Fibromodulin is expressed by both chondrocytes and osteoblasts during fetal bone development
    F Gori
    Endocrine Unit, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA
    J Cell Biochem 82:46-57. 2001
    ..These findings suggest that this extracellular matrix protein plays a role in both endochondral and intramembranous bone formation...
  66. ncbi A remote upstream element regulates tissue-specific expression of the rat aggrecan gene
    Kurt Doege
    Department of Biochemistry, College of Medicine, University of South Florida, Tampa, Florida 33612, USA
    J Biol Chem 277:13989-97. 2002
    ..This is the first report of a gene control region which confers authentic tissue-specific regulation of aggrecan in vitro or in vivo and should greatly facilitate understanding the coordinate regulation of chondrocytic genes...
  67. pmc Integrin-linked kinase regulates chondrocyte shape and proliferation
    Carsten Grashoff
    Department of Molecular Medicine, Max Planck Institute for Biochemistry, Martinsried, Germany
    EMBO Rep 4:432-8. 2003
    ..These findings suggest that Ilk regulates actin reorganization in chondrocytes and modulates chondrocyte growth independently of phosphorylation of Pkb/Akt and GSK3-beta...
  68. ncbi Aggregate formation in the spinal cord of mutant SOD1 transgenic mice is reversible and mediated by proteasomes
    Krishna Puttaparthi
    Department of Neurology, University of Texas, Southwestern Medical Center, Dallas, Texas 75390, USA
    J Neurochem 87:851-60. 2003
    ..Our results also establish that adult mouse spinal cord exhibits a relative deficiency in proteasome activity compared with non-CNS tissue that may help explain the propensity of spinal cord to form SOD1-positive aggregates...
  69. pmc Matrilin-3 is dispensable for mouse skeletal growth and development
    Yaping Ko
    Center for Biochemistry, Medical Faculty, University of Cologne, D 50931 Cologne, Germany
    Mol Cell Biol 24:1691-9. 2004
    ..Altogether, our findings suggest functional redundancy among matrilins and demonstrate that the phenotypes of MED disorders are not caused by the absence of matrilin-3 in cartilage ECM...
  70. pmc Sox5 and Sox6 are needed to develop and maintain source, columnar, and hypertrophic chondrocytes in the cartilage growth plate
    Patrick Smits
    Dept of Biomedical Engineering, Lerner Research Institute, The Cleveland Clinic Foundation, 9500 Euclid Ave, ND 20, Cleveland, OH 44195, USA
    J Cell Biol 164:747-58. 2004
    ..In conclusion, Sox5 and Sox6 are needed for the establishment of multilayered growth plates, and thereby for proper and timely development of endochondral bones...
  71. ncbi Abnormal craniofacial development and expression patterns of extracellular matrix components in transgenic Del1 mice harboring a deletion mutation in the type II collagen gene
    M Savontaus
    Department of Medical Biochemistry and Molecular Biology, University of Turku, Turku, Finland
    Orthod Craniofac Res 7:216-26. 2004
    ..To analyze the effect of a type II collagen mutation on craniofacial development in transgenic Del1 mice...
  72. ncbi Developmental regulation of Wnt/beta-catenin signals is required for growth plate assembly, cartilage integrity, and endochondral ossification
    Yoshihiro Tamamura
    Department of Orthopaedic Surgery, Jefferson Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
    J Biol Chem 280:19185-95. 2005
    ....
  73. pmc Matrix metalloproteinases are not essential for aggrecan turnover during normal skeletal growth and development
    Christopher B Little
    Arthritis Research Group, University of Melbourne Department of Paediatrics and Murdoch Childrens Research Institute, Royal Children s Hospital, Flemington Road, Parkville 3052, Australia
    Mol Cell Biol 25:3388-99. 2005
    ..Our studies reveal that MMP cleavage in this key region is not a predominant mechanism for removing aggrecan from growth plate cartilage...
  74. 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...
  75. ncbi Inactivation of aPKClambda results in the loss of adherens junctions in neuroepithelial cells without affecting neurogenesis in mouse neocortex
    Fumiyasu Imai
    Department of Molecular Biology, Yokohama City University Graduate School of Medical Science, 3 9 Fuku ura, Kanazawa Ku, Yokohama 236 0004, Japan
    Development 133:1735-44. 2006
    ..Therefore, we concluded that, at least in the later stages of neurogenesis, regulation of cell cycle exit is independent of adherens junctions...
  76. ncbi Insulin-like growth factor-I is essential for embryonic bone development
    Yongmei Wang
    Department of Medicine, Endocrine Unit, 111N, Veterans Affairs Medical Center, 4150 Clement Street, San Francisco, California 94121, USA
    Endocrinology 147:4753-61. 2006
    ..Our results indicate that IGF-I plays an important role in skeletal development by promoting chondrocyte proliferation and maturation while inhibiting apoptosis to form bones of appropriate size and strength...
  77. pmc Functional knockout of the matrilin-3 gene causes premature chondrocyte maturation to hypertrophy and increases bone mineral density and osteoarthritis
    Louise van der Weyden
    Mouse Genomics Lab, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, United Kingdom
    Am J Pathol 169:515-27. 2006
    ..The lack of Matn3 does not lead to postnatal chondrodysplasia but accounts for higher incidence of osteoarthritis...
  78. pmc Transcription factor ERG and joint and articular cartilage formation during mouse limb and spine skeletogenesis
    Masahiro Iwamoto
    Department of Orthopaedic Surgery, Thomas Jefferson University College of Medicine, Philadelphia, PA 19107, USA
    Dev Biol 305:40-51. 2007
    ..The results suggest that ERG is part of molecular mechanisms leading chondrocytes into a permanent developmental path and become joint forming cells, and may do so by acting downstream of GDF-5...
  79. pmc Development of the post-natal growth plate requires intraflagellar transport proteins
    Buer Song
    Department of Pathology, University of Alabama at Birmingham, AL, USA
    Dev Biol 305:202-16. 2007
    ..The results suggest a model in which IFT/cilia act to maintain the columnar organization of the growth plate via the process of chondrocyte rotation...
  80. pmc Role of hindbrain in inner ear morphogenesis: analysis of Noggin knockout mice
    Jinwoong Bok
    National Institute on Deafness and Other Communication Disorders, 5 Research Ct, Rm 2B34, Rockville, MD 20850, USA
    Dev Biol 311:69-78. 2007
    ..In addition, the size of the otic capsule is increased in Noggin -/- mutants, which most likely is due to unopposed BMP signaling for chondrogenesis in the peri-otic mesenchyme...
  81. ncbi Noggin heterozygous mice: an animal model for congenital conductive hearing loss in humans
    Chan Ho Hwang
    Lab of Molecular Biology, National Institute on Deafness and Other Communication Disorders, 5 Research Court, Rm 2B34, Rockville, MD 20850, USA
    Hum Mol Genet 17:844-53. 2008
    ..More importantly, these results establish Nog(+/-) mice as the first animal model for the study of conductive rather than neurosensory hearing loss that has direct relevance to human genetic disorders...
  82. pmc Periostin is required for maturation and extracellular matrix stabilization of noncardiomyocyte lineages of the heart
    Paige Snider
    Cardiovascular Development Group, Herman B Wells Center for Pediatric Research, Indiana University School of Medicine, Indianapolis, USA
    Circ Res 102:752-60. 2008
    ..Thus, peri(lacZ) knockouts provide a new model of viable latent valve disease...
  83. pmc Kruppel-like factor 5 causes cartilage degradation through transactivation of matrix metalloproteinase 9
    Yusuke Shinoda
    Sensory and Motor System Medicine, University of Tokyo, Tokyo 113 8655, Japan
    J Biol Chem 283:24682-9. 2008
    ....
  84. pmc Adamts5, the gene encoding a proteoglycan-degrading metalloprotease, is expressed by specific cell lineages during mouse embryonic development and in adult tissues
    Daniel R McCulloch
    Department of Biomedical Engineering and Orthopaedic and Rheumatologic Institute, ND20 Cleveland Clinic, 9500 Euclid Avenue, Cleveland, OH 44195, USA
    Gene Expr Patterns 9:314-23. 2009
    ..These observations suggest the major contexts in which developmental and physiological roles could be sought for this protease...
  85. pmc Retinoic acid receptors are required for skeletal growth, matrix homeostasis and growth plate function in postnatal mouse
    Julie A Williams
    Department of Orthopaedic Surgery, Thomas Jefferson University College of Medicine, Philadelphia, PA 19107, USA
    Dev Biol 328:315-27. 2009
    ..Since aggrecan is critical for growth plate function, its deficiency in RAR-mutant mice is likely to have contributed directly to their growth retardation...
  86. doi Akt regulates skeletal development through GSK3, mTOR, and FoxOs
    Satoshi Rokutanda
    Department of Cell Biology, Unit of Basic Medical Sciences, Nagasaki University Graduate School of Biomedical Sciences, 1 7 1 Sakamoto, Nagasaki 852 8588, Japan
    Dev Biol 328:78-93. 2009
    ....
  87. doi A continuous observation of the degenerative process in the intervertebral disc of Smad3 gene knock-out mice
    Chen Guang Li
    Institute of Spine, Shanghai University of Traditional Chinese Medicine, Shanghai, People s Republic of China
    Spine (Phila Pa 1976) 34:1363-9. 2009
    ..Pathologic changes were observed in the spine of small mother against decapentaplegic (Smad) 3 mice at different time points...
  88. pmc Critical roles of the TGF-beta type I receptor ALK5 in perichondrial formation and function, cartilage integrity, and osteoblast differentiation during growth plate development
    Tomoya Matsunobu
    Laboratory of Cell and Developmental Biology, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD 20892 4370, USA
    Dev Biol 332:325-38. 2009
    ..These results demonstrate the important roles of TGF-beta signaling in perichondrium formation and differentiation, as well as in growth plate integrity during skeletal development...
  89. pmc Atoh1-lineal neurons are required for hearing and for the survival of neurons in the spiral ganglion and brainstem accessory auditory nuclei
    Stephen M Maricich
    Department of Pediatrics and Neurosciences, Case Western Reserve University, Cleveland, Ohio 44106, USA
    J Neurosci 29:11123-33. 2009
    ..These new mouse models of predominantly central deafness illuminate the importance of the CN for support of a subset of peripheral and central auditory neurons...
  90. pmc Synovial joint morphogenesis requires the chondrogenic action of Sox5 and Sox6 in growth plate and articular cartilage
    Peter Dy
    Department of Cell Biology, and Orthopaedic and Rheumatologic Research Center, Lerner Research Institute, Cleveland Clinic, 9500 Euclid Avenue NC 10, Cleveland, OH 44195, USA
    Dev Biol 341:346-59. 2010
    ..Together, these data suggest that synovial joint morphogenesis relies on essential roles for Sox5/6 in promoting both growth plate and articular chondrocyte differentiation...
  91. pmc RBPjkappa-dependent Notch signaling regulates mesenchymal progenitor cell proliferation and differentiation during skeletal development
    Yufeng Dong
    Department of Orthopaedics and Rehabilitation, Center for Musculoskeletal Research, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA
    Development 137:1461-71. 2010
    ..Finally, Hes1 was identified as an RBPjkappa-dependent Notch target gene important for MPC maintenance and the suppression of in vitro chondrogenesis...
  92. doi Transcriptional regulation of endochondral ossification by HIF-2alpha during skeletal growth and osteoarthritis development
    Taku Saito
    Sensory and Motor System Medicine, University of Tokyo, Hongo, Bunkyo ku, Tokyo, Japan
    Nat Med 16:678-86. 2010
    ..Hence, HIF-2alpha is a central transactivator that targets several crucial genes for endochondral ossification and may represent a therapeutic target for osteoarthritis...
  93. pmc Chondroitin sulfate N-acetylgalactosaminyltransferase 1 is necessary for normal endochondral ossification and aggrecan metabolism
    Takashi Sato
    Research Center for Medical Glycoscience, National Institute of Advanced Industrial Science and Technology, Open Space Laboratory Central 2, 1 1 1 Umezono, Tsukuba, Ibaraki 305 8568, Japan
    J Biol Chem 286:5803-12. 2011
    ..Western blot analysis demonstrated an increase in processed forms of aggrecan core protein. These results suggest that CSGalNAcT-1 is required for normal levels of CS biosynthesis in cartilage...
  94. doi Radial glia regulate Cajal-Retzius cell positioning in the early embryonic cerebral cortex
    Hyo Jun Kwon
    Neuroscience Training Program, University of Wisconsin, Madison, WI 53706, USA
    Dev Biol 351:25-34. 2011
    ..They may also, through regulating the placement of guidepost cells, coordinate spatial patterning of the nervous system along its radial axis...
  95. pmc Partially redundant functions of Adamts1 and Adamts4 in the perinatal development of the renal medulla
    Derek Boerboom
    Départment de Biomédecine Vétérinaire, Universite de Montreal, St Hyacinthe, Quebec, Canada
    Dev Dyn 240:1806-14. 2011
    ..This study is thus the first to report Adamts4 expression and function in the mammalian kidney, and to demonstrate that Adamts1 and Adamts4 play redundant and essential roles in perinatal kidney development...
  96. pmc Eliminating SF-1 (NR5A1) sumoylation in vivo results in ectopic hedgehog signaling and disruption of endocrine development
    Florence Y Lee
    Department of Cellular and Molecular Pharmacology, University of California, San Francisco, San Francisco, CA 94143, USA
    Dev Cell 21:315-27. 2011
    ..We conclude that the sumoylation cycle greatly expands the functional capacity of transcription factors such as SF-1 and is leveraged during development to achieve cell-type-specific gene expression in multicellular organisms...
  97. ncbi Pulmonary hypoplasia in mice homozygous for the cartilage matrix deficiency (cmd) gene: a model for human congenital disorder
    M J Houghton
    Department of Zoology, Brigham Young University, Provo, Utah 84602
    Pediatr Pathol 9:501-12. 1989
    ..in the lethal chondrodystrophies in man, lungs of day 18 mouse fetuses homozygous for cartilage matrix deficiency (cmd) were studied by biochemical, histological, and morphometric techniques...
  98. ncbi Histochemical, immunofluorescence, and ultrastructural differences in fetal cartilage among three genetically distinct chondrodystrophic mice
    R E Seegmiller
    Department of Zoology, Brigham Young University, Provo, Utah 84602
    Teratology 38:579-92. 1988
    ..chondrodysplasia (cho), cartilage matrix deficiency (cmd), and disproportionate micromelia (Dmm), which share this syndrome, were performed with the aim of identifying ..
  99. ncbi A new mutation at the cmd locus in the mouse
    L Bell
    J Hered 77:205-6. 1986
    ..The primary cause of death at birth is probably the extremely compressed anterior thorax. The new mutation behaves as an allele of cartilage matrix deficiency (cmd) and is provisionally named cmdBc.
  100. ncbi Absence of proteoglycan core protein in cartilage from the cmd/cmd (cartilage matrix deficiency) mouse
    K Kimata
    J Biol Chem 256:6961-8. 1981
    Mice homozygous for the autosomal recessive gene, cartilage matrix deficiency (cmd/cmd), are characterized by disproportionate dwarfism and cleft palate...
  101. pmc Perlecan maintains the integrity of cartilage and some basement membranes
    M Costell
    Department of Experimental Pathology, Lund University, S 221 85 Lund, Sweden
    J Cell Biol 147:1109-22. 1999
    ....

Research Grants7

  1. FUNCTIONAL ANALYSIS OF GLYPICANS IN BRAIN DEVELOPMENT
    Yu Yamaguchi; Fiscal Year: 2001
    ..These studies not only provide new insight into the mechanism of neurogenesis but may shed light on the pathogenesis of congenital brain malformations that may derive from defective proliferation of neural precursor cells. ..
  2. BRAIN EXTRACELLULAR MATRIX--ROLES IN NEURAL FUNCTION AND
    Yu Yamaguchi; Fiscal Year: 2002
    ....
  3. Role of hyaluronan in developing and adult CNS
    Yu Yamaguchi; Fiscal Year: 2005
    ..The insight derived from these studies could lead to the development of hyaluronan based therapeutic approaches for neurodegenerative and demyelinating diseases. ..
  4. Heparan sulfate in neural development
    Yu Yamaguchi; Fiscal Year: 2007
    ..We will perform histological, cell biological, and physiological analyses to determine the physiological role of HS in CNS synapses. ..
  5. Neuronal heparan sulfate deficiency and autism
    Yu Yamaguchi; Fiscal Year: 2007
    ..If our hypothesis proves correct, this project will pave a way toward a new direction of autism research. [unreadable] [unreadable] [unreadable]..
  6. RUNX2 AND PPAR-GAMMA IN CHONDROCYTE FUNCTION
    Masahiro Iwamoto; Fiscal Year: 2009
    ..abstract_text> ..
  7. Gene expression networks for metabolic syndrome traits in mice
    Thomas A Drake; Fiscal Year: 2010
    ....