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Michael Briggs

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Louise H W Kung; M Helen Rajpar; Michael D Briggs; Raymond P Boot-Handford
Hypertrophic chondrocytes have a limited capacity to cope with increases in endoplasmic reticulum stress without triggering the unfolded protein response.
Peter A Bell; Raymond P Boot-Handford; Maryline Fresquet; Katarzyna Piróg; David J Thornton; Michael D Briggs
Loss of matrilin 1 does not exacerbate the skeletal phenotype in a mouse model of multiple epiphyseal dysplasia caused by a Matn3 V194D mutation.
Seema Nundlall; M Helen Rajpar; Peter A Bell; Christopher Clowes; Leo A H Zeeff; Benjamin Gardner; David J Thornton; Raymond P Boot-Handford; Michael D Briggs
An unfolded protein response is the initial cellular response to the expression of mutant matrilin-3 in a mouse model of multiple epiphyseal dysplasia.

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All Publications

2012: Louise H W Kung; M Helen Rajpar; Michael D Briggs; Raymond P Boot-Handford
Hypertrophic chondrocytes have a limited capacity to cope with increases in endoplasmic reticulum stress without triggering the unfolded protein response.
The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society 2012;60(10):734-48.
2012: Peter A Bell; Raymond P Boot-Handford; Maryline Fresquet; Katarzyna Piróg; David J Thornton; Michael D Briggs
Loss of matrilin 1 does not exacerbate the skeletal phenotype in a mouse model of multiple epiphyseal dysplasia caused by a Matn3 V194D mutation.
Arthritis and rheumatism 2012;64(5):1529-39.
2010: Seema Nundlall; M Helen Rajpar; Peter A Bell; Christopher Clowes; Leo A H Zeeff; Benjamin Gardner; David J Thornton; Raymond P Boot-Handford; Michael D Briggs
An unfolded protein response is the initial cellular response to the expression of mutant matrilin-3 in a mouse model of multiple epiphyseal dysplasia.
Cell stress & chaperones 2010;15(6):835-49.
2010: Raymond P Boot-Handford; Michael D Briggs
The unfolded protein response and its relevance to connective tissue diseases.
Cell and tissue research 2010;339(1):197-211.
2009: M Helen Rajpar; Ben McDermott; Louise Kung; Rachel Eardley; Lynette Knowles; Mel Heeran; David J Thornton; Richard Wilson; John F Bateman; Richard Poulsom; Peter Arvan; Karl Kadler; Michael D Briggs; Raymond P Boot-Handford
Targeted induction of endoplasmic reticulum stress induces cartilage pathology.
PLoS genetics 2009;5(10):e1000691.
2009: Stuart W Tompson; Barry Merriman; Vincent A Funari; Maryline Fresquet; Ralph S Lachman; David L Rimoin; Stanley F Nelson; Michael D Briggs; Daniel H Cohn; Deborah Krakow
A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan.
American journal of human genetics 2009;84(1):72-9.
2008: Maryline Fresquet; Gail C Jackson; John Loughlin; Michael D Briggs
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.
Human mutation 2008;29(2):330.
2007: Maryline Fresquet; Thomas A Jowitt; Joni Ylöstalo; Paul Coffey; Roger S Meadows; Leena Ala-Kokko; David J Thornton; Michael D Briggs
Structural and functional characterization of recombinant matrilin-3 A-domain and implications for human genetic bone diseases.
The Journal of biological chemistry 2007;282(48):34634-43.
2007: Katarzyna Piróg; Roger S Meadows; Lynette Knowles; Dick Heinegård; David J Thornton; Karl Kadler; Raymond P Boot-Handford; Michael D Briggs
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.
Human molecular genetics 2007;16(17):2072-88.
2007: Matthew P Leighton; Seema Nundlall; Tobias Starborg; Roger S Meadows; Farhana Suleman; Lynette Knowles; Raimund Wagener; David J Thornton; Karl Kadler; Raymond P Boot-Handford; Michael D Briggs
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.
Human molecular genetics 2007;16(14):1728-41.
2007: Darren A Plumb; Vivek Dhir; Aleksandr Mironov; Laila Ferrara; Richard Poulsom; Karl Kadler; David J Thornton; Michael D Briggs; Raymond P Boot-Handford
Collagen XXVII is developmentally regulated and forms thin fibrillar structures distinct from those of classical vertebrate fibrillar collagens.
The Journal of biological chemistry 2007;282(17):12791-5.
2007: Andreas Zankl; Gail C Jackson; Laureane Mittaz Crettol; Jacky Taylor; Rob Elles; Geert R Mortier; Jürgen Spranger; Bernhard Zabel; Sheila Unger; Martine Le Merrer; Valérie Cormier-Daire; Christine M Hall; Michael J Wright; Luisa Bonafe; andrea superti-furga; Michael D Briggs
Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia.
European journal of human genetics : EJHG 2007;15(2):150-4.
2005: Sally L Cotterill; Gail C Jackson; Matthew P Leighton; Raimund Wagener; Outi Mäkitie; William G Cole; Michael D Briggs
Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3.
Human mutation 2005;26(6):557-65.
2005: Jason Kennedy; Gail C Jackson; Faye S Barker; Seema Nundlall; Jordi Bella; Michael J Wright; Geert R Mortier; Katherine Neas; Elizabeth Thompson; Rob Elles; Michael D Briggs
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.
Human mutation 2005;25(6):593-4.
2005: Jason Kennedy; Gail Jackson; Simon Ramsden; Jacky Taylor; William Newman; Michael J Wright; Dian Donnai; Rob Elles; Michael D Briggs
COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia.
European journal of human genetics : EJHG 2005;13(5):547-55.
2005: Eveliina Jakkula; Outi Mäkitie; Malwina Czarny-Ratajczak; Malwina Czarny-Ratacjzak; Gail C Jackson; Rita Damignani; Miki Susic; Michael D Briggs; William G Cole; Leena Ala-Kokko
Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations.
European journal of human genetics : EJHG 2005;13(3):292-301.
2004: Outi Mäkitie; Geert R Mortier; Malwina Czarny-Ratajczak; Michael J Wright; Mohnish Suri; Piotr Rogala; Margarida Freund; Gail C Jackson; Eveliina Jakkula; Leena Ala-Kokko; Michael D Briggs; William G Cole
Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: description of 12 patients.
American journal of medical genetics. Part A 2004;125A(3):278-84.
2004: Gail C Jackson; F S Barker; Eveliina Jakkula; Malwina Czarny-Ratajczak; Outi Mäkitie; William G Cole; Michael J Wright; Sarah F Smithson; Mohnish Suri; Piotr Rogala; Geert R Mortier; C Baldock; A Wallace; Rob Elles; Leena Ala-Kokko; Michael D Briggs
Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia.
Journal of medical genetics 2004;41(1):52-9.
2003: Kathryn L Chapman; Michael D Briggs; Geert R Mortier
Review: clinical variability and genetic heterogeneity in multiple epiphyseal dysplasia.
Pediatric pathology & molecular medicine 2003;22(1):53-75.
2002: Michael D Briggs; Kathryn L Chapman
Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations.
Human mutation 2002;19(5):465-78.
2001: Geert R Mortier; K Chapman; J L Leroy; Michael D Briggs
Clinical and radiographic features of multiple epiphyseal dysplasia not linked to the COMP or type IX collagen genes.
European journal of human genetics : EJHG 2001;9(8):606-12.
2001: Kathryn L Chapman; Geert R Mortier; K Chapman; John Loughlin; Michael E Grant; Michael D Briggs
Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia.
Nature genetics 2001;28(4):393-6.
2001: P Holden; Roger S Meadows; Kathryn L Chapman; Michael E Grant; Karl Kadler; Michael D Briggs
Cartilage oligomeric matrix protein interacts with type IX collagen, and disruptions to these interactions identify a pathogenetic mechanism in a bone dysplasia family.
The Journal of biological chemistry 2001;276(8):6046-55.
2001: S L Unger; Michael D Briggs; P Holden; Bernhard Zabel; Leena Ala-Kokko; Petteri Paassilta; Jaana Lohiniva; David L Rimoin; Ralph S Lachman; Daniel H Cohn
Multiple epiphyseal dysplasia: radiographic abnormalities correlated with genotype.
Pediatric radiology 2001;31(1):10-8.
2000: AJ Reardon; Magali M Le Goff; Michael D Briggs; david mcleod; John K Sheehan; David J Thornton; Paul N Bishop
Identification in vitreous and molecular cloning of opticin, a novel member of the family of leucine-rich repeat proteins of the extracellular matrix.
The Journal of biological chemistry 2000;275(3):2123-9.
1999: P Holden; Elizabeth G Canty; Geert R Mortier; Bernhard Zabel; Jürgen Spranger; Andrew Carr; Michael E Grant; John Loughlin; Michael D Briggs
Identification of novel pro-alpha2(IX) collagen gene mutations in two families with distinctive oligo-epiphyseal forms of multiple epiphyseal dysplasia.
American journal of human genetics 1999;65(1):31-8.
1999: Emmanuèle C Délot; Lily M King; Michael D Briggs; William R Wilcox; Daniel H Cohn
Trinucleotide expansion mutations in the cartilage oligomeric matrix protein (COMP) gene.
Human molecular genetics 1999;8(1):123-8.
1998: Michael D Briggs; Geert R Mortier; William G Cole; Lily M King; S S Golik; J Bonaventure; Lieve Nuytinck; Anne De Paepe; Jules G Leroy; L Biesecker; MH Lipson; William R Wilcox; Ralph S Lachman; David L Rimoin; RG Knowlton; Daniel H Cohn
Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum.
American journal of human genetics 1998;62(2):311-9.
1998: John Loughlin; C Irven; Zehra Mustafa; Michael D Briggs; Andrew Carr; S A Lynch; RG Knowlton; Daniel H Cohn; B Sykes
Identification of five novel mutations in cartilage oligomeric matrix protein gene in pseudoachondroplasia and multiple epiphyseal dysplasia.
Human mutation 1998;Suppl 1():S10-7.
1997: Robea Ballo; Michael D Briggs; Daniel H Cohn; RG Knowlton; Peter Beighton; Rajkumar Ramesar
Multiple epiphyseal dysplasia, ribbing type: a novel point mutation in the COMP gene in a South African family.
American journal of medical genetics 1997;68(4):396-400.
1996: Daniel H Cohn; Michael D Briggs; Lily M King; David L Rimoin; William R Wilcox; Ralph S Lachman; R G Knowlton
Mutations in the cartilage oligomeric matrix protein (COMP) gene in pseudoachondroplasia and multiple epiphyseal dysplasia.
Annals of the New York Academy of Sciences 1996;785():188-94.
1995: R G Knowlton; J A Cekleniak; Daniel H Cohn; Michael D Briggs; S M Hoffman; B F Brandriff; Anne S Olsen
High-resolution genetic and physical mapping of multiple epiphyseal dysplasia and pseudoachondroplasia mutations at chromosome 19p13.1-p12.
Genomics 1995;28(3):513-9.
1995: Michael D Briggs; S M Hoffman; Lily M King; Anne S Olsen; Harvey W Mohrenweiser; Jules G Leroy; Geert R Mortier; David L Rimoin; Ralph S Lachman; E S Gaines
Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene.
Nature genetics 1995;10(3):330-6.
1994: Michael D Briggs; H Choi; Matthew L Warman; John Loughlin; P Wordsworth; B C Sykes; C Irven; M Smith; R Wynne-Davies; MH Lipson
Genetic mapping of a locus for multiple epiphyseal dysplasia (EDM2) to a region of chromosome 1 containing a type IX collagen gene.
American journal of human genetics 1994;55(4):678-84.
1994: David L Rimoin; I M Rasmussen; Michael D Briggs; P J Roughley; Helen E Gruber; Matthew L Warman; B R Olsen; Y Edward Hsia; J Yuen; Kent Reinker
A large family with features of pseudoachondroplasia and multiple epiphyseal dysplasia: exclusion of seven candidate gene loci that encode proteins of the cartilage extracellular matrix.
Human genetics 1994;93(3):236-42.
1993: Jacqueline T Hecht; Clair A Francomano; Michael D Briggs; M Deere; B Conner; W A Horton; Matthew L Warman; Daniel H Cohn; S Blanton
Linkage of typical pseudoachondroplasia to chromosome 19.
Genomics 1993;18(3):661-6.
1993: Michael D Briggs; I M Rasmussen; J L Weber; J Yuen; Kent Reinker; A P Garber; David L Rimoin; Daniel H Cohn
Genetic linkage of mild pseudoachondroplasia (PSACH) to markers in the pericentromeric region of chromosome 19.
Genomics 1993;18(3):656-60.
1993: Michael D Briggs; Daniel H Cohn
Length polymorphism within a complex dinucleotide repeat in the human decorin (DCN) gene.
Human molecular genetics 1993;2(7):1087.