B R Olsen

Summary

Affiliation: Harvard University
Country: USA

Publications

  1. pmc The role of SH3BP2 in the pathophysiology of cherubism
    ERNST J REICHENBERGER
    Department of Reconstructive Sciences, Center for Regenerative Medicine and Skeletal Development, University of Connecticut Health Center, Farmington, CT, USA
    Orphanet J Rare Dis 7:S5. 2012
  2. pmc Cherubism: best clinical practice
    Maria E Papadaki
    Department of Oral and Maxillofacial Surgery, Massachusetts General Hospital, Harvard School of Dental Medicine, Boston, MA, USA
    Orphanet J Rare Dis 7:S6. 2012
  3. pmc Editorial: Journal of negative results in biomedicine
    Christian Pfeffer
    J Negat Results Biomed 1:2. 2002
  4. pmc The role of structural genes in the pathogenesis of osteoarthritic disorders
    Anthony M Reginato
    Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA
    Arthritis Res 4:337-45. 2002
  5. ncbi request reprint Bone development
    B R Olsen
    Harvard Medical School, Department of Cell Biology, 240 Longwood Avenue, Boston, Massachusetts 02115, USA
    Annu Rev Cell Dev Biol 16:191-220. 2000
  6. pmc Life without perlecan has its problems
    B R Olsen
    Department of Cell Biology, Harvard Medical School, Boston, Massachusetts 02115, USA
    J Cell Biol 147:909-12. 1999
  7. ncbi request reprint Age-dependent increase of discoidin domain receptor 2 and matrix metalloproteinase 13 expression in temporomandibular joint cartilage of type IX and type XI collagen-deficient mice
    N P Lam
    Department of Developmental Biology, Harvard School of Dental Medicine, Boston, MA 02115, USA
    Arch Oral Biol 52:579-84. 2007
  8. pmc A nonsense mutation in MSX1 causes Witkop syndrome
    D Jumlongras
    Department of Cell Biology, Brigham and Women s Hospital, Boston, MA, USA
    Am J Hum Genet 69:67-74. 2001
  9. ncbi request reprint Collagen XII mutation disrupts matrix structure of periodontal ligament and skin
    E Reichenberger
    Department of Cell Biology, Harvard Medical School, Boston, MA, USA
    J Dent Res 79:1962-8. 2000
  10. ncbi request reprint Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism
    Y Ueki
    Harvard Forsyth Department of Oral Biology, Harvard School of Dental Medicine and The Forsyth Institute, Harvard Medical School, Boston, Massachusetts, USA
    Nat Genet 28:125-6. 2001

Collaborators

Detail Information

Publications97

  1. pmc The role of SH3BP2 in the pathophysiology of cherubism
    ERNST J REICHENBERGER
    Department of Reconstructive Sciences, Center for Regenerative Medicine and Skeletal Development, University of Connecticut Health Center, Farmington, CT, USA
    Orphanet J Rare Dis 7:S5. 2012
    ..The data suggest that the underlying cause for cherubism is a systemic autoinflammatory response to physiologic challenges despite the localized appearance of bone resorption and fibrous expansion to the jaws in humans...
  2. pmc Cherubism: best clinical practice
    Maria E Papadaki
    Department of Oral and Maxillofacial Surgery, Massachusetts General Hospital, Harvard School of Dental Medicine, Boston, MA, USA
    Orphanet J Rare Dis 7:S6. 2012
    ..Surgical procedures are usually performed when the disease becomes quiescent. Aggressive lesions that cause severe functional problems such as airway obstruction justify early surgical intervention...
  3. pmc Editorial: Journal of negative results in biomedicine
    Christian Pfeffer
    J Negat Results Biomed 1:2. 2002
  4. pmc The role of structural genes in the pathogenesis of osteoarthritic disorders
    Anthony M Reginato
    Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA
    Arthritis Res 4:337-45. 2002
    ....
  5. ncbi request reprint Bone development
    B R Olsen
    Harvard Medical School, Department of Cell Biology, 240 Longwood Avenue, Boston, Massachusetts 02115, USA
    Annu Rev Cell Dev Biol 16:191-220. 2000
    ....
  6. pmc Life without perlecan has its problems
    B R Olsen
    Department of Cell Biology, Harvard Medical School, Boston, Massachusetts 02115, USA
    J Cell Biol 147:909-12. 1999
  7. ncbi request reprint Age-dependent increase of discoidin domain receptor 2 and matrix metalloproteinase 13 expression in temporomandibular joint cartilage of type IX and type XI collagen-deficient mice
    N P Lam
    Department of Developmental Biology, Harvard School of Dental Medicine, Boston, MA 02115, USA
    Arch Oral Biol 52:579-84. 2007
    ..We conclude that, similar to previous observations in knee joints, the overexpression of Ddr2 and Mmp-13 may be responsible for the OA-like change in TM joints in mutant mice...
  8. pmc A nonsense mutation in MSX1 causes Witkop syndrome
    D Jumlongras
    Department of Cell Biology, Brigham and Women s Hospital, Boston, MA, USA
    Am J Hum Genet 69:67-74. 2001
    ....
  9. ncbi request reprint Collagen XII mutation disrupts matrix structure of periodontal ligament and skin
    E Reichenberger
    Department of Cell Biology, Harvard Medical School, Boston, MA, USA
    J Dent Res 79:1962-8. 2000
    ..The skin of transgenic mice revealed the lack of matrix fiber structure in the papillary dermis. These results indicated that the dominant interference mutation of collagen XII disorganized the ECM architecture of PDL and skin...
  10. ncbi request reprint Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism
    Y Ueki
    Harvard Forsyth Department of Oral Biology, Harvard School of Dental Medicine and The Forsyth Institute, Harvard Medical School, Boston, Massachusetts, USA
    Nat Genet 28:125-6. 2001
    ..Here we describe seven mutations in the SH3-binding protein SH3BP2 (MIM 602104) on chromosome 4p16.3 that cause cherubism...
  11. ncbi request reprint Tissue specific regulation of VEGF expression during bone development requires Cbfa1/Runx2
    E Zelzer
    Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA
    Mech Dev 106:97-106. 2001
    ..The results demonstrate that Cbfa1 is a necessary component of a tissue specific genetic program that regulates VEGF during endochondral bone formation...
  12. pmc Secreted cathepsin L generates endostatin from collagen XVIII
    U Felbor
    Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA
    EMBO J 19:1187-94. 2000
    ..We propose that cleavage within collagen XVIII's protease-sensitive region evolved to regulate excessive proteolysis in conditions of induced angiogenesis...
  13. ncbi request reprint 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...
  14. ncbi request reprint Structural variation of type XII collagen at its carboxyl-terminal NC1 domain generated by tissue-specific alternative splicing
    A M Kania
    Department of Periodontology, Harvard School of Dental Medicine, Boston, Massachusetts, 02115, USA
    J Biol Chem 274:22053-9. 1999
    ..4) followed by a terminal basic region (pI = 13.8). Because the short NC1 domain lacks these features, structural variations in the type XII collagen NC1 domain suggests different functional roles in a tissue-specific fashion...
  15. pmc Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK
    E Reichenberger
    Harvard Forsyth Department of Oral Biology, The Forsyth Institute, Harvard School of Dental Medicine, and Department of Cell Biology, Harvard Medical School, Boston, MA, USA
    Am J Hum Genet 68:1321-6. 2001
    ..These results suggest that the mutated protein has a dominant negative effect on the function of ANK, since reduced levels of pyrophosphate in bone matrix are known to increase mineralization...
  16. ncbi request reprint Osteoarthritis-like changes and decreased mechanical function of articular cartilage in the joints of mice with the chondrodysplasia gene (cho)
    L Xu
    Harvard Medical School, Boston, Massachusetts, USA
    Arthritis Rheum 48:2509-18. 2003
    ....
  17. ncbi request reprint Pathogenesis of osteoarthritis-like changes in the joints of mice deficient in type IX collagen
    K Hu
    Harvard School of Dental Medicine, Boston, Massachusetts 02115, USA
    Arthritis Rheum 54:2891-900. 2006
    ..To examine the pathogenetic mechanisms of osteoarthritis (OA)-like changes in Col9a1-/- mice, which are deficient in type IX collagen...
  18. ncbi request reprint A double-deletion mutation in the Pitx3 gene causes arrested lens development in aphakia mice
    D K Rieger
    Department of Cell Biology, Harvard Medical School, 240 Longwood Avenue, Boston, Massachusetts, 02115, USA
    Genomics 72:61-72. 2001
    ..We conclude that the ak mutation consists of two deletions, the larger of which removes part of Pitx3, indicating a crucial role of this gene in early lens development...
  19. pmc Development and tissue origins of the mammalian cranial base
    B McBratney-Owen
    Harvard School of Dental Medicine, Department of Developmental Biology, 190 Longwood Avenue, Boston, MA, 02115, USA
    Dev Biol 322:121-32. 2008
    ....
  20. ncbi request reprint Mouse models of abnormal skeletal development and homeostasis
    W McLean
    Dept of Cell Biology, Harvard Medical School, 240 Longwood Avenue, Boston, MA 02115, USA
    Trends Genet 17:S38-43. 2001
    ..In many cases, such mutants are also genetic models of disorders in humans, characterized by reduced bone mass (osteoporosis), increased bone mass (osteopetrosis), or abnormalities in endochondral ossification (chondrodysplasias)...
  21. ncbi request reprint The role of collagen-derived proteolytic fragments in angiogenesis
    A G Marneros
    Department of Cell Biology, Harvard Medical School, 240 Longwood Avenue, Boston, MA 02115, USA
    Matrix Biol 20:337-45. 2001
    ..Furthermore, NC1 domain fragments of the most abundant basement membrane collagen, type IV collagen, have been shown to inhibit induced vessel growth...
  22. ncbi request reprint Genetic regulation of skeletal patterning, differentiation, and growth
    B R Olsen
    Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA
    Bone 25:77-9. 1999
  23. ncbi request reprint Clinical genetics of familial keloids
    A G Marneros
    Department of Cell Biology, Harvard Medical School, 240 Longwood Ave, Boston, MA 02115, USA
    Arch Dermatol 137:1429-34. 2001
    ..Most keloids occur sporadically, but some cases are familial. However, the genetics of keloid formation have only rarely been documented, and the mode of inheritance is not known...
  24. pmc Early-onset osteoarthritis of mouse temporomandibular joint induced by partial discectomy
    L Xu
    The Forsyth Institute, 140 The Fenway, Boston, MA 02115, USA
    Osteoarthritis Cartilage 17:917-22. 2009
    ..The objective of this study is to characterize mouse temporomandibular joint (TMJ) following partial discectomy, since there is no documentation of whether or not partial discectomy can induce early-onset osteoarthritis (OA) in mouse TMJ...
  25. ncbi request reprint 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
    ..In the three strains, mutations in alpha 1(XI) collagen, alpha 1(II) collagen or aggrecan lead to severe defects in the structure and function of cartilage with significant negative effects on longitudinal bone growth...
  26. ncbi request reprint Gene for the human transmembrane-type protein tyrosine phosphatase H (PTPRH): genomic structure, fine-mapping and its exclusion as a candidate for Peutz-Jeghers syndrome
    A G Marneros
    Department of Cell Biology, Harvard Medical School, Boston MA 02115, USA
    Cytogenet Cell Genet 92:213-6. 2001
    ..No disease causing mutation was identified in PTPRH in affected individuals, suggesting the existence of an as yet not identified gene on 19q13.4 as a second PJS gene...
  27. ncbi request reprint The mechanism of palatal clefting in the Col11a1 mutant mouse
    I O Lavrin
    Department of Growth and Development, Division of Orthodontics and Dentofacial Orthopedics, Harvard School of Dental Medicine, Boston, MA 02115, USA
    Arch Oral Biol 46:865-9. 2001
    ..The possibility that unfused palatal shelves in other clinical syndromes can adhere and undergo EMT if brought into contact at appropriate times before birth has important therapeutic implications...
  28. ncbi request reprint Expression of frizzled genes in mouse costochondral chondrocytes
    L Xu
    Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA
    Matrix Biol 20:147-51. 2001
    ..elegans, Drosophila, chicken and human. We used the T31 Mouse/Hamster radiation hybrid panel to map the mouse frizzled-1 to mouse chromosome 5 (5 cM from the centromere), and frizzled-9 to mouse chromosome 5 (74 cM from the centromere)...
  29. ncbi request reprint Laser capture microdissection (LCM) for analysis of gene expression in specific tissues during embryonic epithelial-mesenchymal transformation
    A Nawshad
    Department of Cell Biology, Harvard Medical School, Boston, Massachusetts, USA
    Dev Dyn 230:529-34. 2004
    ..These techniques will enable embryologists to collect homogeneous groups of cells from heterogeneous populations in developing organs, which otherwise would not be available for gene analysis...
  30. ncbi request reprint Characterization of a human homologue of the Saccharomyces cerevisiae transcription factor spt3 (SUPT3H)
    J Yu
    Department of Cell Biology, Department of Genetics, Harvard Medical School, 200 Longwood Avenue, Boston, Massachusetts, 02115, USA
    Genomics 53:90-6. 1998
    ..These data suggest that the transcriptional control carried out by Spt3 has been conserved from yeast to human...
  31. ncbi request reprint Delivery of plasmid DNA to articular chondrocytes via novel collagen-glycosaminoglycan matrices
    R E Samuel
    Department of Orthopedic Surgery, Brigham and Women s Hospital, Harvard Medical School, 75 Francis Street, Boston, MA 02115, USA
    Hum Gene Ther 13:791-802. 2002
    ..Thus, GSCG matrices can be fabricated to provide sustained release of plasmid DNA carrying a potential therapeutic gene...
  32. pmc Clonality and altered behavior of endothelial cells from hemangiomas
    E Boye
    Department of Cell Biology, Harvard Medical School, Boston, Massachusetts, USA
    J Clin Invest 107:745-52. 2001
    ..We conclude that hemangiomas constitute clonal expansions of endothelial cells. This is consistent with the possibility that these tumors are caused by somatic mutations in one or more genes regulating endothelial cell proliferation...
  33. doi request reprint The mouse palate and its cellular responses to midpalatal suture expansion forces
    N Katebi
    Department of Developmental Biology, Harvard School of Dental Medicine, 188 Longwood Avenue, Boston, MA 02115, USA
    Orthod Craniofac Res 15:148-58. 2012
    ..To investigate the anatomy of the mouse palate, the midpalatal suture, and the cellular characteristics in the sutures before and immediately after midpalatal suture expansion...
  34. ncbi request reprint A review of tissue inhibitor of metalloproteinases-3 (TIMP-3) and experimental analysis of its effect on primary tumor growth
    B Anand-Apte
    Department of Surgical Research, Children s Hospital, Boston, MA 02115, USA
    Biochem Cell Biol 74:853-62. 1996
    ..Because recombinant TIMP-3 inhibits endothelial cell migration and tube formation in response to angiogenic factors, we believe that the effect of TIMP-3 on tumor growth seen in this study may be a consequence of its angiostatic action...
  35. ncbi request reprint Endostatin: an endogenous inhibitor of angiogenesis and tumor growth
    M S O'Reilly
    Department of Surgery, Children s Hospital, Boston, Massachusetts 02115, USA
    Cell 88:277-85. 1997
    ..Together with angiostatin data, these findings validate a strategy for identifying endogenous angiogenesis inhibitors, suggest a theme of fragments of proteins as angiogenesis inhibitors, and demonstrate dormancy therapy...
  36. ncbi request reprint Craniofacial abnormalities in mice carrying a dominant interference mutation in type X collagen
    K S Chung
    Laboratory of Reconstructive Biotechnology, Harvard School of Dental Medicine, Boston, Massachusetts, USA
    Dev Dyn 208:544-52. 1997
    ..The data suggested that the expression of the chick type X collagen transgene product was strongly associated with the craniofacial skeletal abnormalities that were distinct from other cartilage-related phenotypes...
  37. ncbi request reprint Complete primary structure of two splice variants of collagen XII, and assignment of alpha 1(XII) collagen (COL12A1), alpha 1(IX) collagen (COL9A1), and alpha 1(XIX) collagen (COL19A1) to human chromosome 6q12-q13
    D R Gerecke
    Cutaneous Biology Research Center, Massachusetts General Hospital, Charlestown 02129 2017, USA
    Genomics 41:236-42. 1997
    ..Only the small variant transcript is apparent in human lung, placenta, kidney, and a squamous cell carcinoma cell line. These results confirm the previous observations showing that collagen XII is found in collagen I-containing tissues...
  38. pmc Mouse Col18a1 is expressed in a tissue-specific manner as three alternative variants and is localized in basement membrane zones
    Y Muragaki
    Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA
    Proc Natl Acad Sci U S A 92:8763-7. 1995
    ..Thus, we conclude that alpha 1(XVIII) collagen may interact (directly or indirectly) with components in basement membrane zones or on the basal surface of endothelial/epithelial cells...
  39. ncbi request reprint A type X collagen mutation causes Schmid metaphyseal chondrodysplasia
    M L Warman
    Department of Anatomy and Cellular Biology, Harvard Medical School, Boston, Massachusetts 02115
    Nat Genet 5:79-82. 1993
    ..This mutation may prevent association of the mutant polypeptide during trimer formation, resulting in a decreased amount of normal protein...
  40. ncbi request reprint Gene encoding a novel murine tissue inhibitor of metalloproteinases (TIMP), TIMP-3, is expressed in developing mouse epithelia, cartilage, and muscle, and is located on mouse chromosome 10
    S S Apte
    Department of Cell Biology, Harvard Medical School, Boston, Massachusetts 02115
    Dev Dyn 200:177-97. 1994
    ..We propose a role for TIMP-3 in musculoskeletal and cardiac development, in the morphogenesis of certain epithelial structures, and placental implantation...
  41. ncbi request reprint Cartilage type IX collagen-proteoglycan contains a large amino-terminal globular domain encoded by multiple exons
    G Vasios
    Department of Anatomy and Cellular Biology, Harvard Medical School, Boston, Massachusetts 02115
    J Biol Chem 263:2324-9. 1988
    ..Both the sequence and exon structure of the NC4 domain is unique among collagens and there is no obvious homology with the noncollagenous domains of other types of collagen, including the propeptides of fibrillar collagens...
  42. pmc The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3
    H Juppner
    Endocrine, Departments of Medicine and Pediatrics, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA
    Proc Natl Acad Sci U S A 95:11798-803. 1998
    ....
  43. ncbi request reprint The role of sonic hedgehog in vertebrate development
    M Weed
    Department of Cell Biology, Harvard Medical School, Boston, Massachusetts, USA
    Matrix Biol 16:53-8. 1997
    ..Downstream targets of Sonic hedgehog signalling are transcription factors like Gli3, responsible for Greigs polycephalosyndactyly in humans and Hoxd13, responsible for polysyndactyly...
  44. pmc The gene for cherubism maps to chromosome 4p16
    V Tiziani
    Department of Cell Biology, Harvard Medical School and Harvard Forsyth Boston, MA, USA
    Am J Hum Genet 65:158-66. 1999
    ..Three other families affected with cherubism were also genotyped and were mapped to the same locus. The combined LOD score is 4.21 at a recombination fraction of 0, and the locus spans an interval of approximately 22 cM...
  45. ncbi request reprint The mouse alpha 1(XII) and human alpha 1(XII)-like collagen genes are localized on mouse chromosome 9 and human chromosome 6
    S P Oh
    Department of Anatomy and Cellular Biology, Harvard Medical School, Boston, Massachusetts 02115
    Genomics 14:225-31. 1992
    ..This information should prove useful in determining the role of type XII collagen genes as candidate genes in inheritable connective tissue diseases...
  46. ncbi request reprint The complete primary structure of two distinct forms of human alpha 1 (IX) collagen chains
    Y Muragaki
    Department of Anatomy and Cellular Biology, Harvard Medical School, Boston, MA 02115
    Eur J Biochem 192:703-8. 1990
    ..Nucleotide sequence analysis has permitted the determination of the primary structure of both forms. These probes and sequences should prove useful in future studies of chondrodysplasias involving type IX collagen...
  47. ncbi request reprint The type X collagen gene. Intron sequences split the 5'-untranslated region and separate the coding regions for the non-collagenous amino-terminal and triple-helical domains
    P LuValle
    Department of Anatomy and Cellular Biology, Harvard Medical School, Boston, Massachusetts 02115
    J Biol Chem 263:18378-85. 1988
    ....
  48. ncbi request reprint Cloning of the human and mouse type X collagen genes and mapping of the mouse type X collagen gene to chromosome 10
    S S Apte
    Department of Anatomy and Cellular Biology, Harvard Medical School, Boston, MA 02115
    Eur J Biochem 206:217-24. 1992
    ....
  49. pmc The alpha 1 (IX) collagen gene gives rise to two different transcripts in both mouse embryonic and human fetal RNA
    Y Muragaki
    Department of Anatomy and Cellular Biology, Harvard Medical School, Boston, MA 02115
    Proc Natl Acad Sci U S A 87:2400-4. 1990
    ..One type of transcript does not contain the sequence encoded by exon 1*; the second type of transcript contains this exon. Both mouse and human alpha 1(IX) collagen genes give rise, therefore, to (at least) two mRNA transcripts...
  50. ncbi request reprint Assembly and sequencing of a cDNA covering the entire mouse alpha 1(IX) collagen chain
    I Rokos
    Department of Cell Biology, Harvard Medical School, Boston, MA 02115
    Matrix Biol 14:1-8. 1994
    ....
  51. ncbi request reprint Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13
    Y Muragaki
    Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA
    Science 272:548-51. 1996
    ..The mutations identify the polyalanine stretch outside of the DNA binding domain of HOXD13 as a region necessary for proper protein function...
  52. ncbi request reprint Mutations in collagen genes resulting in metaphyseal and epiphyseal dysplasias
    B R Olsen
    Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA
    Bone 17:45S-49S. 1995
    ....
  53. ncbi request reprint Molecular cloning of the alpha 3 chain of human type IX collagen: linkage of the gene COL9A3 to chromosome 20q13.3
    R G Brewton
    Department of Cell Biology, University of Alabama at Birmingham 35294, USA
    Genomics 30:329-36. 1995
    ..These data will greatly assist the genetic screening of families with degenerative cartilage and eye diseases by allowing investigators to screen for a complete set of candidate collagen gene markers...
  54. ncbi request reprint Primary structure of the long and short splice variants of mouse collagen XII and their tissue-specific expression during embryonic development
    K Böhme
    Department of Cell Biology, Harvard Medical School, Boston, Massachusetts 02115, USA
    Dev Dyn 204:432-45. 1995
    ..An exception is dermis, which is positive for the long form up to embryonic day 15, but negative at day 18, when only the short form RNA can be detected...
  55. ncbi request reprint Vascular dysmorphogenesis caused by an activating mutation in the receptor tyrosine kinase TIE2
    M Vikkula
    Department of Cell Biology, Harvard Medical School, Boston, Massachusetts 02115, USA
    Cell 87:1181-90. 1996
    ..We conclude that an activating mutation in TIE2 causes inherited VMs in the two families and that the TIE2 signaling pathway is critical for endothelial cell-smooth muscle cell communication in venous morphogenesis...
  56. pmc Immunoidentification of type XII collagen in embryonic tissues
    S P Sugrue
    Department of Anatomy and Cellular Biology, Harvard Medical School, Boston, Massachusetts 02115
    J Cell Biol 109:939-45. 1989
    ....
  57. ncbi request reprint Cloning of cDNA and genomic DNA encoding human type XVIII collagen and localization of the alpha 1(XVIII) collagen gene to mouse chromosome 10 and human chromosome 21
    S P Oh
    Department of Cellular Biology, Harvard Medical School, Boston, Massachusetts 02115
    Genomics 19:494-9. 1994
    ..3 by fluorescence in situ hybridization. In addition, using an interspecific backcross panel, we have shown that the murine Col18a1 locus is on chromosome 10, close to the loci for Col6a1 and Col6a2...
  58. ncbi request reprint Molecular cloning of rat and human type IX collagen cDNA and localization of the alpha 1(IX) gene on the human chromosome 6
    T Kimura
    Department of Anatomy and Cellular Biology, Harvard Medical School, Boston, Massachusetts 02115
    Eur J Biochem 179:71-8. 1989
    ..The cloning of human type IX collagen cDNA provides a probe for molecular studies of human chondrodysplasias that may involve abnormalities in this extracellular collagen-proteoglycan...
  59. ncbi request reprint Cloning of the cDNA encoding human tissue inhibitor of metalloproteinases-3 (TIMP-3) and mapping of the TIMP3 gene to chromosome 22
    S S Apte
    Department of Cell Biology, Harvard Medical School, Boston, Massachusetts 02115
    Genomics 19:86-90. 1994
    ..Using in situ hybridization to human metaphase chromosomes, we have assigned the locus for the TIMP3 gene to the q12.1-q13.2 region of human chromosome 22...
  60. ncbi request reprint Cloning of human alpha 1(X) collagen DNA and localization of the COL10A1 gene to the q21-q22 region of human chromosome 6
    S Apte
    Department of Anatomy and Cellular Biology, Harvard Medical School, Boston, MA 02115
    FEBS Lett 282:393-6. 1991
    ....
  61. ncbi request reprint A mutation in the gene encoding the alpha 2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2)
    Y Muragaki
    Department of Cell Biology, Harvard Medical School, Boston, Massachusetts 02115, USA
    Nat Genet 12:103-5. 1996
  62. ncbi request reprint Physical and linkage mapping of the human and murine genes for the alpha 1 chain of type IX collagen (COL9A1)
    M L Warman
    Department of Anatomy and Cellular Biology, Harvard Medical School, Boston, Massachusetts 02115
    Genomics 17:694-8. 1993
    ..These data may facilitate linkage studies with COL9A1 (or Col9a1) as a candidate gene for hereditary chondrodysplasias and osteoarthritis...
  63. ncbi request reprint The alpha 2(VIII) collagen gene. A novel member of the short chain collagen family located on the human chromosome 1
    Y Muragaki
    Department of Anatomy and Cellular Biology, Harvard Medical School, Boston, Massachusetts 02115 6092
    J Biol Chem 266:7721-7. 1991
    ..By in situ hybridization we demonstrate that the alpha 2(VIII) gene is located in the p32.3-p34.3 region of the short arm of chromosome 1...
  64. pmc Isolation and sequencing of cDNAs for proteins with multiple domains of Gly-Xaa-Yaa repeats identify a distinct family of collagenous proteins
    S P Oh
    Department of Cell Biology, Harvard Medical School, Boston, MA 02115
    Proc Natl Acad Sci U S A 91:4229-33. 1994
    ..We conclude that they belong to a subfamily of extracellular matrix proteins and we suggest the designation multiplexins (for protein with multiple triple-helix domains and interruptions) for members of this subfamily...
  65. ncbi request reprint Characterization of the mouse type X collagen gene
    S S Apte
    Department of Anatomy and Cellular Biology, Harvard Medical School, Boston, MA 02115
    Matrix 13:165-79. 1993
    ..Knowledge of the complete structure of the mouse type X collagen gene will also be useful for the investigation of type X collagen gene abnormalities in murine chondrodysplasias and for the generation of transgenic mice...
  66. ncbi request reprint The genes encoding alpha 2(IX) collagen (COL9A2) map to human chromosome 1p32.3-p33 and mouse chromosome 4
    M L Warman
    Department of Cell Biology, Harvard Medical School, Boston, Massachusetts 02115
    Genomics 23:158-62. 1994
    ..This permits comparison of the carboxyl-terminal (NC1) domains of the alpha 1(IX), alpha 2(IX), and alpha 3(IX) chains across several species...
  67. ncbi request reprint The highly conserved defender against the death 1 (DAD1) gene maps to human chromosome 14q11-q12 and mouse chromosome 14 and has plant and nematode homologs
    S S Apte
    Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA
    FEBS Lett 363:304-6. 1995
    ..The human and mouse DAD1 genes map to chromosome 14q11-q12 and chromosome 14, respectively. This mapping data supports and extends the previously reported similarities between human chromosome 14q and mouse chromosome 14...
  68. ncbi request reprint Mapping of the human BAX gene to chromosome 19q13.3-q13.4 and isolation of a novel alternatively spliced transcript, BAX delta
    S S Apte
    Department of Cell Biology, Harvard Medical School, Boston, Massachusetts 02115, USA
    Genomics 26:592-4. 1995
    ..Unlike two previously described variant forms of Bax alpha (Bax beta and Bax tau), Bax delta retains the functionally critical C-terminal membrane anchor region as well as the Bcl-2 homology 1 and 2 (BH1 and BH2) domains...
  69. ncbi request reprint Type XII collagen. A large multidomain molecule with partial homology to type IX collagen
    M K Gordon
    Department of Anatomy and Cellular Biology, Harvard Medical School, Boston, Massachusetts 02115 6092
    J Biol Chem 264:19772-8. 1989
    ..Oh, S., Sugrue, S. P., Gordon, M. K., Gerecke, D. R., Olsen, B. R., and van der Rest, M. (1989) J. Biol. Chem. 264, 13150-13156)...
  70. ncbi request reprint Type XIV collagen is encoded by alternative transcripts with distinct 5' regions and is a multidomain protein with homologies to von Willebrand's factor, fibronectin, and other matrix proteins
    D R Gerecke
    Department of Anatomy and Cellular Biology, Harvard Medical School, Boston, Massachusetts 02115
    J Biol Chem 268:12177-84. 1993
    ..We hypothesize therefore that the sequence in alpha 1(XIV) collagen may play a role in the control of alpha 1(XIV) protein synthesis...
  71. ncbi request reprint Tissue-specific expression of type XII collagen during mouse embryonic development
    S P Oh
    Department of Anatomy and Cellular Biology, Harvard Medical School, Boston, Massachusetts 02115
    Dev Dyn 196:37-46. 1993
    ....
  72. pmc A gene for inherited cutaneous venous anomalies ("glomangiomas") localizes to chromosome 1p21-22
    L M Boon
    Laboratory of Human Molecular Genetics, Christian de Duve Institute of Cellular Pathology and Universite catholique de Louvain, Brussels, Belgium
    Am J Hum Genet 65:125-33. 1999
    ..We hypothesize that cutaneous venous anomalies (i.e., glomangiomas) are caused by mutations in a novel gene that may act to regulate angiogenesis, in concert with the TIE-2 signaling pathway...
  73. pmc Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome
    O T Suzuki
    Departamento de Biologia, Instituto de Biociencias, Sao Paulo, Brasil
    Am J Hum Genet 71:1320-9. 2002
    ....
  74. pmc Osteoarthritis associated with mild chondrodysplasia in transgenic mice expressing alpha 1(IX) collagen chains with a central deletion
    K Nakata
    Department of Orthopaedic Surgery, Osaka University Medical School, Japan
    Proc Natl Acad Sci U S A 90:2870-4. 1993
    ..Therefore, the phenotypic severity correlated well with the level of transgene expression. These findings suggest that mutations in type IX collagen genes may cause certain forms of osteoarthritis and chondrodysplasia in humans...
  75. ncbi request reprint Tissue-specific forms of type IX collagen-proteoglycan arise from the use of two widely separated promoters
    I Nishimura
    Department of Prosthetic Dentistry, Harvard School of Dental Medicine, Boston, Massachusetts
    J Biol Chem 264:20033-41. 1989
    ..Our finding provides a novel clue to answering the general question of what mechanisms are used to generate unique fibrillar patterns in different tissues...
  76. ncbi request reprint Linkage disequilibrium narrows locus for venous malformation with glomus cells (VMGLOM) to a single 1.48 Mbp YAC
    A Irrthum
    Laboratory of Human Molecular Genetics, , Brussels, Belgium
    Eur J Hum Genet 9:34-8. 2001
    ..48 Mbp, a feasible size for positional cloning. As there is no known gene involved in vasculogenesis and/or angiogenesis in this YAC, the identification of the causative gene is likely to reveal a novel regulator or vascular development...
  77. ncbi request reprint Disproportionate micromelia (Dmm) in mice caused by a mutation in the C-propeptide coding region of Col2a1
    J M Pace
    Department of Zoology, Brigham Young University, Provo, Utah 84602, USA
    Dev Dyn 208:25-33. 1997
    ..Thus, mice bearing the Dmm mutation serve as a model for studying the pathogenesis of these disorders while revealing novel insights into normal skeletal morphogenesis...
  78. ncbi request reprint Coding sequence, exon-intron structure and chromosomal localization of murine TNF-stimulated gene 6 that is specifically expressed by expanding cumulus cell-oocyte complexes
    C Fulop
    Department of Biomedical Engineering, The Cleveland Clinic Foundation, OH 44195, USA
    Gene 202:95-102. 1997
    ....
  79. ncbi request reprint The matrix metalloproteinase-14 (MMP-14) gene is structurally distinct from other MMP genes and is co-expressed with the TIMP-2 gene during mouse embryogenesis
    S S Apte
    Department of Biomedical Engineering, Cleveland Clinic Foundation, Cleveland, Ohio 44195, USA
    J Biol Chem 272:25511-7. 1997
    ..The stringent co-expression of these two genes suggests common regulatory pathways that may have important functional implications for the activation of pro-gelatinase A in health and disease...
  80. pmc Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract
    F R Goodman
    Molecular Medicine Unit, Institute of Child Health, 30 Guilford Street, London WC1N 1EH, United Kingdom
    Proc Natl Acad Sci U S A 94:7458-63. 1997
    ....
  81. pmc Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13
    Y Gong
    Department of Genetics, Case Western Reserve University School of Medicine, Cleveland OH 44106, USA
    Am J Hum Genet 59:146-51. 1996
    ..The OPS locus maps to a 13-cM interval between D11S1298 and D11S971 and most likely lies in a 3-cM region between GSTP1 and D11S1296. At present, no strong candidate genes colocalize with OPS...
  82. pmc Abnormal compartmentalization of cartilage matrix components in mice lacking collagen X: implications for function
    K M Kwan
    Biochemistry Department, The University of Hong Kong
    J Cell Biol 136:459-71. 1997
    ..This hypothesis would accommodate the previously conflicting views of the function of collagen X and of the molecular pathogenesis of SMCD...
  83. ncbi request reprint LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development
    Y Gong
    Cell 107:513-23. 2001
    ..These data indicate that Wnt-mediated signaling via LRP5 affects bone accrual during growth and is important for the establishment of peak bone mass...
  84. ncbi request reprint Construction and characterization of cDNA encoding the alpha 2 chain of chicken type IX collagen
    Y Ninomiya
    Biochemistry 24:4223-9. 1985
    ..We have given the polypeptide chain encoded by the cDNA reported here the name alpha 2(IX), and we show that it is homologous to the alpha 1(IX) chain previously characterized by us...
  85. pmc A short isoform of Col9a1 supports alveolar bone repair
    K Ting
    Section of Orthodontics, UCLA School of Dentistry, Los Angeles, California 90095 1668, USA
    Am J Pathol 155:1993-9. 1999
    ..These data suggest that type IX collagen short transcriptional variant is involved in the restoration and remodeling processes of trabecular bone...
  86. pmc Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes
    S Annunen
    Collagen Research Unit, Biocenter and Department of Medical Biochemistry, University of Oulu, Oulu, Finland
    Am J Hum Genet 65:974-83. 1999
    ..Null-allele mutations in the COL2A1 gene led to a typical phenotype of Stickler syndrome. Some patients, however, presented with phenotypes of both Marshall and Stickler syndromes...
  87. ncbi request reprint Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus
    I McIntosh
    Department of Medicine, Johns Hopkins School of Medicine, Baltimore, MD 21287
    Hum Mol Genet 3:303-7. 1994
    ..All three mutations are in the carboxy-terminal non-collagenous domain suggesting that the effect of these mutations is to impair the mutant polypeptide's ability to participate in chain association and trimer formation...
  88. ncbi request reprint The human alpha 2(XI) collagen (COL11A2) chain. Molecular cloning of cDNA and genomic DNA reveals characteristics of a fibrillar collagen with differences in genomic organization
    T Kimura
    Department of Orthopedic Surgery, Osaka University Medical School, Japan
    J Biol Chem 264:13910-6. 1989
    ..The results demonstrate that the gene is located close to the region p212 on chromosome 6. Northern blot analysis shows that the gene is expressed in cartilage but not in adult liver, skin, and tendon...
  89. ncbi request reprint Assignment of a locus for dominantly inherited venous malformations to chromosome 9p
    L M Boon
    Division of Plastic Surgery, Children s Hospital, Boston, MA
    Hum Mol Genet 3:1583-7. 1994
    ..Characterization of the gene responsible for this disorder should yield insights into the precise pathogenic mechanisms for venous malformations...
  90. ncbi request reprint Developmental patterns of two alpha 1(IX) collagen mRNA isoforms in mouse
    C Y Liu
    Department of Ophthalmology, University of Cincinnati, Ohio 45267 0527
    Dev Dyn 198:150-7. 1993
    ..This differs from that of chick cornea development. In summary, the expression of the Col9a1 gene shows a temporospatial pattern throughout mouse eye development.(ABSTRACT TRUNCATED AT 250 WORDS)..
  91. ncbi request reprint The human alpha 1(XV) collagen chain contains a large amino-terminal non-triple helical domain with a tandem repeat structure and homology to alpha 1(XVIII) collagen
    Y Muragaki
    Department of Pathology, Wakayama Medical College, Japan
    J Biol Chem 269:4042-6. 1994
    ..Northern blot analysis of human embryonic RNA revealed that alpha 1(XV) mRNA is expressed predominantly in internal organs such as the adrenal gland, kidney, and pancreas...
  92. pmc Synthesis and characterization of cDNA encoding a cartilage-specific short collagen
    Y Ninomiya
    Proc Natl Acad Sci U S A 81:3014-8. 1984
    ..In addition, the peptide encoded by the cDNA appears to contain at least three domains with triple-helical potential separated by short, noncollagenous peptides. Between the three collagenous domains are several cysteinyl residues...
  93. pmc Type XII collagen: distinct extracellular matrix component discovered by cDNA cloning
    M K Gordon
    Proc Natl Acad Sci U S A 84:6040-4. 1987
    ..Based on their structure and the properties of their genes, we conclude that this family of collagens is distinctly different from that of fibrillar collagens...
  94. pmc Structure of the glycosaminoglycan domain in the type IX collagen-proteoglycan
    D McCormick
    Proc Natl Acad Sci U S A 84:4044-8. 1987
    ....
  95. ncbi request reprint Mapping of a human fibrillar collagen gene, pro alpha 1 (XI) (COL11A1), to the p21 region of chromosome 1
    I Henry
    INSERM U73, Genetique et Pathologie Foetale, Paris, France
    Genomics 3:87-90. 1988
    ..These studies also provide additional evidence for the nearly uniform dispersion of the human fibrillar collagen genes in the human genome...
  96. ncbi request reprint alpha 1(VIII)-collagen gene transcripts encode a short-chain collagen polypeptide and are expressed by various epithelial, endothelial and mesenchymal cells in newborn mouse tissues
    Y Muragaki
    Department of Pathology, Wakayama Medical College, Japan
    Eur J Biochem 207:895-902. 1992
    ....
  97. pmc Crystal structure of the angiogenesis inhibitor endostatin at 1.5 A resolution
    E Hohenester
    Department of Crystallography, Birkbeck College, London WC1E 7HX, UK e hohenester cryst bbk ac uk
    EMBO J 17:1656-64. 1998
    ..Endostatin may inhibit angiogenesis by binding to the heparan sulphate proteoglycans involved in growth factor signalling...