M. Briggs

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New developments in chondrocyte ER stress and related diseases

K. A. Pirog, M. Briggs, E. P. Dennis, 2020, F1000Research.

A mouse model offers novel insights into the myopathy and tendinopathy often associated with pseudoachondroplasia and multiple epiphyseal dysplasia

R. Boot-Handford, K. Kadler, R. S. Meadows, 2009, Human molecular genetics.

CRELD2 Is a Novel LRP1 Chaperone That Regulates Noncanonical WNT Signaling in Skeletal Development

R. Boot-Handford, M. Capulli, A. Teti, 2020, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Identification of novel pro-alpha2(IX) collagen gene mutations in two families with distinctive oligo-epiphyseal forms of multiple epiphyseal dysplasia.

G. Mortier, B. Zabel, E. Canty, 1999, American journal of human genetics.

Targeted Induction of Endoplasmic Reticulum Stress Induces Cartilage Pathology

R. Poulsom, P. Arvan, R. Boot-Handford, 2009, PLoS genetics.

An unfolded protein response is the initial cellular response to the expression of mutant matrilin-3 in a mouse model of multiple epiphyseal dysplasia

R. Boot-Handford, D. Thornton, C. Clowes, 2010, Cell Stress and Chaperones.

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.

R. Boot-Handford, K. Kadler, L. Knowles, 2007, Human molecular genetics.

Armet/Manf and Creld2 are components of a specialized ER stress response provoked by inappropriate formation of disulphide bonds: implications for genetic skeletal diseases

R. Boot-Handford, M. Briggs, Sarah Edwards, 2013, Human molecular genetics.

Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3

O. Mäkitie, W. Cole, R. Wagener, 2005, Human mutation.

A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan.

S. Nelson, B. Merriman, D. Rimoin, 2009, American journal of human genetics.

Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia

G. Mortier, J. Loughlin, K. Chapman, 2001, Nature Genetics.

Mesencephalic astrocyte-derived neurotropic factor is an important factor in chondrocyte ER homeostasis

R. Boot-Handford, K. A. Pirog, M. Briggs, 2018, Cell Stress and Chaperones.

Identification in Vitreous and Molecular Cloning of Opticin, a Novel Member of the Family of Leucine-rich Repeat Proteins of the Extracellular Matrix*

D. McLeod, D. Thornton, J. Sheehan, 2000, The Journal of Biological Chemistry.

Multiple epiphyseal dysplasia and related disorders: Molecular genetics, disease mechanisms, and therapeutic avenues

M. Briggs, E. P. Dennis, Phillippa L Greenhalgh-Maychell, 2020, Developmental dynamics : an official publication of the American Association of Anatomists.

Trinucleotide expansion mutations in the cartilage oligomeric matrix protein (COMP) gene.

W. Wilcox, D. Cohn, E. Délot, 1999, Human molecular genetics.

Pseudoachondroplasia and Multiple Epiphyseal Dysplasia: A 7-Year Comprehensive Analysis of the Known Disease Genes Identify Novel and Recurrent Mutations and Provides an Accurate Assessment of Their Relative Contribution

G. Mortier, A. Offiah, Jacqueline A Taylor, 2011, Human mutation.

Novel mutations in exon 2 of MATN3 affect residues within the α–helices of the A‐domain and can result in the intracellular retention of mutant matrilin‐3

J. Loughlin, M. Briggs, M. Fresquet, 2008, Human mutation.

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.

D. Heinegård, R. Boot-Handford, K. Kadler, 2007, Human molecular genetics.

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

G. Mortier, J. Bella, M. Wright, 2005, Human mutation.

Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: Description of 12 patients

O. Mäkitie, G. Mortier, L. Ala‐Kokko, 2004, American journal of medical genetics. Part A.

Clinical and radiographic features of multiple epiphyseal dysplasia not linked to the COMP or type IX collagen genes

G. Mortier, M. Briggs, K. Chapman, 2001, European Journal of Human Genetics.

Multiple epiphyseal dysplasia: radiographic abnormalities correlated with genotype

L. Ala‐Kokko, D. Rimoin, B. Zabel, 2001, Pediatric Radiology.

Exon skipping mutation in the COL9A2 gene in a family with multiple epiphyseal dysplasia.

B. Olsen, W. Wilcox, D. Cohn, 2000, Matrix biology : journal of the International Society for Matrix Biology.

Mutations in the Cartilage Oligomeric Matrix Protein (COMP) Gene in Pseudoachondroplasia and Multiple Epiphyseal Dysplasia a

D. Rimoin, W. Wilcox, D. Cohn, 1996, Annals of the New York Academy of Sciences.

A Novel Form of Chondrocyte Stress is Triggered by a COMP Mutation Causing Pseudoachondroplasia

R. Boot-Handford, Farhana Suleman, K. A. Pirog, 2011, Human mutation.

CRELD2 is a novel modulator of calcium release and calcineurin-NFAT signalling during osteoclast differentiation

J. Munkley, M. Briggs, E. P. Dennis, 2022, Scientific Reports.

New therapeutic targets in rare genetic skeletal diseases

M. Wright, K. A. Pirog, M. Briggs, 2015, Expert opinion on orphan drugs.

Multiple Epiphyseal Dysplasia, Autosomal Dominant

G. Mortier, M. Wright, M. Briggs, 2015 .

Pseudoachondroplasia and Multiple Epiphyseal Dysplasia: Molecular Genetics, Disease Mechanisms and Therapeutic Targets.

K. A. Pirog, M. Briggs, P. A. Bell, 2017 .

The aggrecanopathies; an evolving phenotypic spectrum of human genetic skeletal diseases

M. Briggs, B. Gibson, 2016, Orphanet Journal of Rare Diseases.

The utility of mouse models to provide information regarding the pathomolecular mechanisms in human genetic skeletal diseases: The emerging role of endoplasmic reticulum stress (Review)

K. A. Pirog, M. Briggs, P. A. Bell, 2015, International journal of molecular medicine.

Loss of matrilin 1 does not exacerbate the skeletal phenotype in a mouse model of multiple epiphyseal dysplasia caused by a Matn3 V194D mutation

R. Boot-Handford, D. Thornton, K. A. Pirog, 2012, Arthritis and rheumatism.

Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations

O. Mäkitie, L. Ala‐Kokko, W. Cole, 2005, European Journal of Human Genetics.

Review: Clinical Variability and Genetic Heterogeneity in Multiple Epiphyseal Dysplasia

G. Mortier, M. Briggs, K. Chapman, 2003 .

Recent advances in elucidating the molecular-pathogenetic mechanisms of osteochondrodysplasias

M. Briggs, 2002 .

Pseudoachondroplasia and multiple epiphyseal dysplasia: Mutation review, molecular interactions, and genotype to phenotype correlations

M. Briggs, K. Chapman, 2002, Human mutation.

Molecular diagnosis is important to confirm suspected pseudoachondroplasia

D. Donnai, M. Briggs, B. Newman, 2000, Journal of medical genetics.

Identification of five novel mutations in cartilage oligomeric matrix protein gene in pseudoachondroplasia and multiple epiphyseal dysplasia

B. Sykes, S. Lynch, D. Cohn, 1998, Human mutation.

Collagen XXVII Organises the Pericellular Matrix in the Growth Plate

R. Boot-Handford, K. Kadler, Aleksandr Mironov, 2011, PloS one.

Collagen XXVII Is Developmentally Regulated and Forms Thin Fibrillar Structures Distinct from Those of Classical Vertebrate Fibrillar Collagens*

R. Poulsom, R. Boot-Handford, K. Kadler, 2007, Journal of Biological Chemistry.

Increased Classical Endoplasmic Reticulum Stress Is Sufficient to Reduce Chondrocyte Proliferation Rate in the Growth Plate and Decrease Bone Growth

R. Preziosi, R. Boot-Handford, M. Briggs, 2015, PloS one.

Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity.

G. Mortier, A. Mégarbané, R. Scott, 2011, American journal of human genetics.

Curcumin Reduces Pathological Endoplasmic Reticulum Stress through Increasing Proteolysis of Mutant Matrilin-3

M. Briggs, E. P. Dennis, Robyn N. Watson, 2023, International journal of molecular sciences.

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

D. Rimoin, P. Roughley, B. Olsen, 1994, Human Genetics.

Genetic linkage of mild pseudoachondroplasia (PSACH) to markers in the pericentromeric region of chromosome 19.

J. Weber, D. Rimoin, K. Reinker, 1993, Genomics.

A novel transgenic mouse model of growth plate dysplasia reveals that decreased chondrocyte proliferation due to chronic ER stress is a key factor in reduced bone growth

P. Arvan, R. Boot-Handford, B. Gualeni, 2013, Disease Models & Mechanisms.

Genetic mapping of a locus for multiple epiphyseal dysplasia (EDM2) to a region of chromosome 1 containing a type IX collagen gene.

Paul Wordsworth, B. Sykes, M. Warman, 1994, American journal of human genetics.

Increased hippocampal excitability in miR-324-null mice

D. J. Hayman, Fiona E. N. LeBeau, G. Clowry, 2021, Scientific Reports.

Skeletal Dysplasias Associated with Mild Myopathy—A Clinical and Molecular Review

K. A. Pirog, M. Briggs, 2010, Journal of biomedicine & biotechnology.

Structural and Functional Investigations of Matrilin-1 A-domains Reveal Insights into Their Role in Cartilage ECM Assembly*

T. Jowitt, L. Stephen, M. Briggs, 2010, The Journal of Biological Chemistry.

Granulomatous peritonitis by ascaris.

M. Briggs, C. M. Mello, E. S. Venâncio, 1992, Journal of pediatric surgery.

Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy

Jacqueline A Taylor, A. Verrips, M. Briggs, 2010, American journal of medical genetics. Part A.

Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia

G. Mortier, A. Zankl, B. Zabel, 2007, European Journal of Human Genetics.

Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene

A. Olsen, H. Mohrenweiser, G. Mortier, 1995, Nature Genetics.

Multiple epiphyseal dysplasia, ribbing type: a novel point mutation in the COMP gene in a South African family.

P. Beighton, R. Ramesar, D. Cohn, 1997, American journal of medical genetics.

Genotype to phenotype correlations in cartilage oligomeric matrix protein associated chondrodysplasias

S. Ramsden, M. Briggs, P. A. Bell, 2014, European Journal of Human Genetics.

Mild Myopathy Is Associated with COMP but Not MATN3 Mutations in Mouse Models of Genetic Skeletal Diseases

Aleksandr Mironov, K. A. Pirog, M. Briggs, 2013, PloS one.

Cartilage-specific ablation of XBP1 signaling in mouse results in a chondrodysplasia characterized by reduced chondrocyte proliferation and delayed cartilage maturation and mineralization.

L. Glimcher, R. Boot-Handford, J. Bateman, 2015, Osteoarthritis and cartilage.

The unfolded protein response and its relevance to connective tissue diseases

R. Boot-Handford, M. Briggs, 2009, Cell and Tissue Research.

Analysis of the cartilage proteome from three different mouse models of genetic skeletal diseases reveals common and discrete disease signatures

R. Boot-Handford, D. Thornton, F. Zaucke, 2013, Biology Open.

Abnormal Chondrocyte Apoptosis in the Cartilage Growth Plate is Influenced by Genetic Background and Deletion of CHOP in a Targeted Mouse Model of Pseudoachondroplasia

R. Boot-Handford, K. A. Pirog, P. Halai, 2014, PloS one.

Cartilage endoplasmic reticulum stress may influence the onset but not the progression of experimental osteoarthritis

R. Boot-Handford, Ping Wang, J. Soul, 2019, Arthritis Research & Therapy.

XBP1 signalling is essential for alleviating mutant protein aggregation in ER-stress related skeletal disease

J. Schwartz, R. Boot-Handford, J. Soul, 2019, PLoS genetics.

Cartilage Oligomeric Matrix Protein Interacts with Type IX Collagen, and Disruptions to These Interactions Identify a Pathogenetic Mechanism in a Bone Dysplasia Family*

K. Kadler, K E Kadler, R. S. Meadows, 2001, The Journal of Biological Chemistry.

Missense mutations in the β strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia

O. Mäkitie, G. Mortier, L. Ala‐Kokko, 2004, Journal of Medical Genetics.

Structural and Functional Characterization of Recombinant Matrilin-3 A-domain and Implications for Human Genetic Bone Diseases*

L. Ala‐Kokko, T. Jowitt, D. Thornton, 2007, Journal of Biological Chemistry.

Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum.

G. Mortier, L. Biesecker, D. Rimoin, 1998, American journal of human genetics.

Review: clinical variability and genetic heterogeneity in multiple epiphyseal dysplasia.

G. Mortier, M. Briggs, K. Chapman, 2003, Pediatric pathology & molecular medicine.

Hypertrophic Chondrocytes Have a Limited Capacity to Cope with Increases in Endoplasmic Reticulum Stress without Triggering the Unfolded Protein Response

R. Boot-Handford, M. Briggs, M. Rajpar, 2012, The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society.

Endoplasmic Reticulum Stress Without Triggering the Unfolded Protein Response

R. Boot-Handford, M. Briggs, M. Rajpar, 2012 .

Increased intracellular proteolysis reduces disease severity in an ER stress–associated dwarfism

R. Goodacre, R. Boot-Handford, J. Bateman, 2017, The Journal of clinical investigation.

COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia

W. Newman, M. Wright, S. Ramsden, 2005, European Journal of Human Genetics.

Faculty Opinions recommendation of Endoplasmic reticulum stress signalling - from basic mechanisms to clinical applications.

M. Briggs, 2020 .

Screening for mutations in cartilage ECM genes.

M. Briggs, 2000, Methods in molecular biology.

Linkage of typical pseudoachondroplasia to chromosome 19.

S. Blanton, M. Warman, J. Hecht, 1993, Genomics.

High-resolution genetic and physical mapping of multiple epiphyseal dysplasia and pseudoachondroplasia mutations at chromosome 19p13.1-p12.

A. Olsen, D. Cohn, R. Knowlton, 1995, Genomics.

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.

D. Heinegård, R. Boot-Handford, K. Kadler, 2007, Human molecular genetics.