Michael Briggs

Summary

Affiliation: University of Manchester
Country: UK

Publications

  1. ncbi request reprint Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations
    Michael D Briggs
    Wellcome Trust Centre for Cell Matrix Research, School of Biological Sciences, University of Manchester, Manchester, UK
    Hum Mutat 19:465-78. 2002
  2. pmc Reduced cell proliferation and increased apoptosis are significant pathological mechanisms in a murine model of mild pseudoachondroplasia resulting from a mutation in the C-terminal domain of COMP
    Katarzyna A Piróg-Garcia
    Wellcome Trust Centre for Cell Matrix Research, Faculty of Life Sciences, University of Manchester, Manchester, UK
    Hum Mol Genet 16:2072-88. 2007
  3. pmc Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia
    Andreas Zankl
    Division of Molecular Paediatrics, Lausanne, Switzerland
    Eur J Hum Genet 15:150-4. 2007
  4. doi request reprint Novel mutations in exon 2 of MATN3 affect residues within the alpha-helices of the A-domain and can result in the intracellular retention of mutant matrilin-3
    Maryline Fresquet
    Wellcome Trust Centre for Cell Matrix Research, Faculty of Life Sciences, University of Manchester, Manchester, United Kingdom
    Hum Mutat 29:330. 2008
  5. ncbi request reprint Novel and recurrent mutations in the C-terminal domain of COMP cluster in two distinct regions and result in a spectrum of phenotypes within the pseudoachondroplasia -- multiple epiphyseal dysplasia disease group
    Jason Kennedy
    National Genetics Reference Laboratory Manchester and Regional Genetics Service, St Mary s Hospital, Manchester, M13 0JH, United Kingdom
    Hum Mutat 25:593-4. 2005
  6. pmc COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia
    Jason Kennedy
    National Genetics Reference Laboratory Manchester, Regional Genetics Services, St Mary s Hospital, Manchester, UK
    Eur J Hum Genet 13:547-55. 2005
  7. ncbi request reprint Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations
    Eveliina Jakkula
    Collagen Research Unit, Biocenter and Department of Medical Biochemistry and Molecular Biology, University of Oulu, Oulu, Finland
    Eur J Hum Genet 13:292-301. 2005
  8. ncbi request reprint Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: description of 12 patients
    Outi Makitie
    Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
    Am J Med Genet A 125:278-84. 2004
  9. ncbi request reprint Review: clinical variability and genetic heterogeneity in multiple epiphyseal dysplasia
    Kathryn L Chapman
    Wellcome Trust Centre for Cell Matrix Research, School of Biological Sciences, University of Manchester, 2 205 Stopford Building, Oxford Road, Manchester, M13 9PT, UK
    Pediatr Pathol Mol Med 22:53-75. 2003
  10. pmc Decreased chondrocyte proliferation and dysregulated apoptosis in the cartilage growth plate are key features of a murine model of epiphyseal dysplasia caused by a matn3 mutation
    Matthew P Leighton
    Wellcome Trust Centre for Cell Matrix Research, Faculty of Life Sciences, University of Manchester, Michael Smith Building, Oxford Road, Manchester M13 9PT, UK
    Hum Mol Genet 16:1728-41. 2007

Research Grants

Collaborators

  • R P Boot Handford
  • J Loughlin
  • O Makitie
  • D J Thornton
  • Andreas Zankl
  • Maryline Fresquet
  • Gail C Jackson
  • Jason Kennedy
  • Roger S Meadows
  • Matthew P Leighton
  • Raymond P Boot-Handford
  • Lynette Knowles
  • Katarzyna A Piróg-Garcia
  • Karl E Kadler
  • Leena Ala-Kokko
  • Seema Nundlall
  • Raimund Wagener
  • William G Cole
  • Michael J Wright
  • Rob Elles
  • Eveliina Jakkula
  • Sally L Cotterill
  • Geert R Mortier
  • Kathryn L Chapman
  • Thomas A Jowitt
  • Paul Coffey
  • Tobias Starborg
  • Dick Heinegard
  • Farhana Suleman
  • Joni Ylostalo
  • Gail Jackson
  • Dian Donnai
  • William Newman
  • Rita Damignani
  • Malwina Czarny-Ratajczak
  • Faye S Barker
  • Miki Susic
  • Simon Ramsden
  • Jacky Taylor
  • Malwina Czarny-Ratacjzak
  • Elizabeth Thompson
  • Katherine Neas
  • Jordi Bella

Detail Information

Publications12

  1. ncbi request reprint Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations
    Michael D Briggs
    Wellcome Trust Centre for Cell Matrix Research, School of Biological Sciences, University of Manchester, Manchester, UK
    Hum Mutat 19:465-78. 2002
    ....
  2. pmc Reduced cell proliferation and increased apoptosis are significant pathological mechanisms in a murine model of mild pseudoachondroplasia resulting from a mutation in the C-terminal domain of COMP
    Katarzyna A Piróg-Garcia
    Wellcome Trust Centre for Cell Matrix Research, Faculty of Life Sciences, University of Manchester, Manchester, UK
    Hum Mol Genet 16:2072-88. 2007
    ..This ultimately affects the morphology and proliferation of growth plate chondrocytes, eventually leading to chondrodysplasia and reduced long bone growth...
  3. pmc Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia
    Andreas Zankl
    Division of Molecular Paediatrics, Lausanne, Switzerland
    Eur J Hum Genet 15:150-4. 2007
    ..We conclude that expert clinical-radiological review can significantly enhance mutation detection rates and should be part of any diagnostic mutation screening protocol for skeletal dysplasias...
  4. doi request reprint Novel mutations in exon 2 of MATN3 affect residues within the alpha-helices of the A-domain and can result in the intracellular retention of mutant matrilin-3
    Maryline Fresquet
    Wellcome Trust Centre for Cell Matrix Research, Faculty of Life Sciences, University of Manchester, Manchester, United Kingdom
    Hum Mutat 29:330. 2008
    ..Therefore, despite extensive biochemical analysis the disease mechanism of p.Lys231Asn remains unresolved and care should be taken in counseling for these types of mutation in MATN3...
  5. ncbi request reprint Novel and recurrent mutations in the C-terminal domain of COMP cluster in two distinct regions and result in a spectrum of phenotypes within the pseudoachondroplasia -- multiple epiphyseal dysplasia disease group
    Jason Kennedy
    National Genetics Reference Laboratory Manchester and Regional Genetics Service, St Mary s Hospital, Manchester, M13 0JH, United Kingdom
    Hum Mutat 25:593-4. 2005
    ..These regions are probably important in stabilising the T3-CTD structure and mediating intra- or intermolecular interactions...
  6. pmc COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia
    Jason Kennedy
    National Genetics Reference Laboratory Manchester, Regional Genetics Services, St Mary s Hospital, Manchester, UK
    Eur J Hum Genet 13:547-55. 2005
    ..Furthermore, in several of these families, the identification of a disease-causing mutation provided information that was immediately used to direct reproductive decision-making...
  7. ncbi request reprint Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations
    Eveliina Jakkula
    Collagen Research Unit, Biocenter and Department of Medical Biochemistry and Molecular Biology, University of Oulu, Oulu, Finland
    Eur J Hum Genet 13:292-301. 2005
    ..The existence of additional MED loci is supported by the exclusion of known loci by mutation analysis and finding of specific subgroups among these patients...
  8. ncbi request reprint Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: description of 12 patients
    Outi Makitie
    Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
    Am J Med Genet A 125:278-84. 2004
    ..Despite overlap, both clinically and radiographically, with other forms of MED, the described features may help to differentiate this particular form from other entities within the MED spectrum...
  9. ncbi request reprint Review: clinical variability and genetic heterogeneity in multiple epiphyseal dysplasia
    Kathryn L Chapman
    Wellcome Trust Centre for Cell Matrix Research, School of Biological Sciences, University of Manchester, 2 205 Stopford Building, Oxford Road, Manchester, M13 9PT, UK
    Pediatr Pathol Mol Med 22:53-75. 2003
    ..In addition, a greater understanding of the role and interactions of specific cartilage molecules may reveal the basis of more widespread cartilage disorders such as osteoarthritis...
  10. pmc Decreased chondrocyte proliferation and dysregulated apoptosis in the cartilage growth plate are key features of a murine model of epiphyseal dysplasia caused by a matn3 mutation
    Matthew P Leighton
    Wellcome Trust Centre for Cell Matrix Research, Faculty of Life Sciences, University of Manchester, Michael Smith Building, Oxford Road, Manchester M13 9PT, UK
    Hum Mol Genet 16:1728-41. 2007
    ....
  11. pmc Structural and functional characterization of recombinant matrilin-3 A-domain and implications for human genetic bone diseases
    Maryline Fresquet
    Wellcome Trust Centre for Cell Matrix Research, Faculty of Life Sciences, University of Manchester, Michael Smith Building, Oxford Road, Manchester M13 9PT, United Kingdom
    J Biol Chem 282:34634-43. 2007
    ..Furthermore, we have also determined that the matrilin-3 A-domain appears to bind exclusively to the COL3 domain of type IX collagen and that this binding is abolished in the presence of a disease causing mutation in type IX collagen...
  12. pmc Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3
    Sally L Cotterill
    Wellcome Trust Centre for Cell Matrix Research, Faculty of Life Sciences, University of Manchester, Manchester, United Kingdom
    Hum Mutat 26:557-65. 2005
    ..In summary, the data presented in this paper suggest that MED caused by MATN3 mutations is the result of an intracellular retention of the mutant protein...

Research Grants4

  1. Targeted mouse models for studying skeletal dysplasia
    Michael Briggs; Fiscal Year: 2005
    ..abstract_text> ..