List of works - Raymond P Boot-Handford

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

scientific article

A novel form of chondrocyte stress is triggered by a COMP mutation causing pseudoachondroplasia.

scientific article published on 17 November 2011

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

scientific article published on 12 September 2013

ADAMTS10-mediated tissue disruption in Weill-Marchesani syndrome.

scientific article published in November 2018

Abnormal chondrocyte apoptosis in the cartilage growth plate is influenced by genetic background and deletion of CHOP in a targeted mouse model of pseudoachondroplasia

scientific article

Activating the unfolded protein response in osteocytes causes hyperostosis consistent with craniodiaphyseal dysplasia.

scientific article published on 29 August 2017

Ageing and osteoarthritis: a circadian rhythm connection.

scientific article

An enhancer complex confers both high-level and cell-specific expression of the human type X collagen gene.

scientific article published in November 2002

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

scientific article

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

scientific article published on 18 June 2013

Arhgap28 is a RhoGAP that inactivates RhoA and downregulates stress fibers

scientific article

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

scientific article published on 15 August 2013

Back to basics--how the evolution of the extracellular matrix underpinned vertebrate evolution.

scientific article published on April 2009

Bub1 maintains centromeric cohesion by activation of the spindle checkpoint

scientific journal article

COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid.

scientific article

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

scientific article published on 17 March 2020

Carbamazepine reduces disease severity in a mouse model of metaphyseal chondrodysplasia type Schmid caused by a premature stop codon (Y632X) in the Col10a1 gene

scientific article published on 01 November 2018

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

scientific article published on 11 September 2019

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

scientific article published on 17 January 2015

Catabolic cytokines disrupt the circadian clock and the expression of clock-controlled genes in cartilage via an NFкB-dependent pathway.

scientific article

Col2a1 lineage tracing reveals that the meniscus of the knee joint has a complex cellular origin

scientific article published on November 2008

Collagen XXVII is developmentally regulated and forms thin fibrillar structures distinct from those of classical vertebrate fibrillar collagens

scientific journal article

Collagen XXVII organises the pericellular matrix in the growth plate

scientific journal article

Collagens at a glance

scientific article published in June 2007

Decreased expression of apical Na+ channels and basolateral Na+, K+-ATPase in ulcerative colitis.

scientific article

Gene cloning to clinical trials-the trials and tribulations of a life with collagen

scientific article published on 01 February 2019

Gene expression changes in damaged osteoarthritic cartilage identify a signature of non-chondrogenic and mechanical responses

scientific article published on 10 March 2016

HtrA1 inhibits mineral deposition by osteoblasts: requirement for the protease and PDZ domains.

scientific article published on 22 December 2007

Identification of multiple integrin beta1 homologs in zebrafish (Danio rerio)

scientific article

Increased classical endoplasmic reticulum stress is sufficient to reduce chondrocyte proliferation rate in the growth plate and decrease bone growth.

scientific article

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

scientific article published on 18 September 2017

Irf6 is a key determinant of the keratinocyte proliferation-differentiation switch

scientific article

LRRCE: a leucine-rich repeat cysteine capping motif unique to the chordate lineage

scientific article

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

scientific article

Molecular and functional studies of electrogenic Na(+) transport in the distal colon and rectum of young and elderly subjects.

scientific article published on November 2003

Molecular, biochemical and functional analysis of a novel and developmentally important fibrillar collagen (Hcol-I) in hydra.

scientific article published in November 2000

On the origins of the extracellular matrix in vertebrates

scientific article published on 19 September 2006

Paradoxical roles of ATF6α and ATF6β in modulating disease severity caused by mutations in collagen X.

scientific article published on 6 March 2018

PhenomeExpress: a refined network analysis of expression datasets by inclusion of known disease phenotypes

scientific article

PhenomeScape: a cytoscape app to identify differentially regulated sub-networks using known disease associations.

scientific article

Rapid stimulation of human renal ENaC by cAMP in Xenopus laevis oocytes.

scientific article

Receptor tyrosine kinase Axl modulates the osteogenic differentiation of pericytes.

scientific article

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

scientific article published in September 2007

Segmental variability of ENaC subunit expression in rat colon during dietary sodium depletion.

scientific article

Setting clock speed in mammals: the CK1 epsilon tau mutation in mice accelerates circadian pacemakers by selectively destabilizing PERIOD proteins

scientific article

SkeletalVis: an exploration and meta-analysis data portal of cross-species skeletal transcriptomics data

scientific article published on 01 July 2019

Stratification of knee osteoarthritis: two major patient subgroups identified by genome-wide expression analysis of articular cartilage.

scientific article published on 22 December 2017

Targeted deletion of the mitogen-activated protein kinase kinase 4 gene in the nervous system causes severe brain developmental defects and premature death

scientific article

Targeted induction of endoplasmic reticulum stress induces cartilage pathology

scientific article

The chondrocyte clock gene Bmal1 controls cartilage homeostasis and integrity.

scientific article

The collagens of hydra provide insight into the evolution of metazoan extracellular matrices.

scientific article published on 3 January 2007

The evolution of the vertebrate metzincins; insights from Ciona intestinalis and Danio rerio

scientific article

The expression and function of microRNAs in chondrogenesis and osteoarthritis.

scientific article

The integrins of the urochordate Ciona intestinalis provide novel insights into the molecular evolution of the vertebrate integrin family.

scientific article

The intervertebral disc contains intrinsic circadian clocks that are regulated by age and cytokines and linked to degeneration

scientific article

The involvement of matrix glycoproteins in vascular calcification and fibrosis: an immunohistochemical study

scientific article published in 2002

The ribosomal protein QM is expressed differentially during vertebrate endochondral bone development.

scientific article

The unfolded protein response and its relevance to connective tissue diseases.

scientific article published on 23 October 2009

Transcriptional profiling of chondrodysplasia growth plate cartilage reveals adaptive ER-stress networks that allow survival but disrupt hypertrophy

scientific article

Visualizing and Quantifying Intracellular Behavior and Abundance of the Core Circadian Clock Protein PERIOD2.

scientific article published on 28 June 2016

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

scientific article published on 01 July 2019

XBP1-Independent UPR Pathways Suppress C/EBP-β Mediated Chondrocyte Differentiation in ER-Stress Related Skeletal Disease

scientific article published in September 2015

List of works by Raymond P Boot-Handford

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

A novel form of chondrocyte stress is triggered by a COMP mutation causing pseudoachondroplasia.

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

ADAMTS10-mediated tissue disruption in Weill-Marchesani syndrome.

Abnormal chondrocyte apoptosis in the cartilage growth plate is influenced by genetic background and deletion of CHOP in a targeted mouse model of pseudoachondroplasia

Activating the unfolded protein response in osteocytes causes hyperostosis consistent with craniodiaphyseal dysplasia.

Ageing and osteoarthritis: a circadian rhythm connection.

An enhancer complex confers both high-level and cell-specific expression of the human type X collagen gene.

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

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

Arhgap28 is a RhoGAP that inactivates RhoA and downregulates stress fibers

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

Back to basics--how the evolution of the extracellular matrix underpinned vertebrate evolution.

Bub1 maintains centromeric cohesion by activation of the spindle checkpoint

COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid.

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

Carbamazepine reduces disease severity in a mouse model of metaphyseal chondrodysplasia type Schmid caused by a premature stop codon (Y632X) in the Col10a1 gene

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

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

Catabolic cytokines disrupt the circadian clock and the expression of clock-controlled genes in cartilage via an NFкB-dependent pathway.

Col2a1 lineage tracing reveals that the meniscus of the knee joint has a complex cellular origin

Collagen XXVII is developmentally regulated and forms thin fibrillar structures distinct from those of classical vertebrate fibrillar collagens

Collagen XXVII organises the pericellular matrix in the growth plate

Collagens at a glance

Decreased expression of apical Na+ channels and basolateral Na+, K+-ATPase in ulcerative colitis.

Gene cloning to clinical trials-the trials and tribulations of a life with collagen

Gene expression changes in damaged osteoarthritic cartilage identify a signature of non-chondrogenic and mechanical responses

HtrA1 inhibits mineral deposition by osteoblasts: requirement for the protease and PDZ domains.

Identification of multiple integrin beta1 homologs in zebrafish (Danio rerio)

Increased classical endoplasmic reticulum stress is sufficient to reduce chondrocyte proliferation rate in the growth plate and decrease bone growth.

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

Irf6 is a key determinant of the keratinocyte proliferation-differentiation switch

LRRCE: a leucine-rich repeat cysteine capping motif unique to the chordate lineage

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

Molecular and functional studies of electrogenic Na(+) transport in the distal colon and rectum of young and elderly subjects.

Molecular, biochemical and functional analysis of a novel and developmentally important fibrillar collagen (Hcol-I) in hydra.

On the origins of the extracellular matrix in vertebrates

Paradoxical roles of ATF6α and ATF6β in modulating disease severity caused by mutations in collagen X.

PhenomeExpress: a refined network analysis of expression datasets by inclusion of known disease phenotypes

PhenomeScape: a cytoscape app to identify differentially regulated sub-networks using known disease associations.

Rapid stimulation of human renal ENaC by cAMP in Xenopus laevis oocytes.

Receptor tyrosine kinase Axl modulates the osteogenic differentiation of pericytes.

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

Segmental variability of ENaC subunit expression in rat colon during dietary sodium depletion.

Setting clock speed in mammals: the CK1 epsilon tau mutation in mice accelerates circadian pacemakers by selectively destabilizing PERIOD proteins

SkeletalVis: an exploration and meta-analysis data portal of cross-species skeletal transcriptomics data

Stratification of knee osteoarthritis: two major patient subgroups identified by genome-wide expression analysis of articular cartilage.

Targeted deletion of the mitogen-activated protein kinase kinase 4 gene in the nervous system causes severe brain developmental defects and premature death

Targeted induction of endoplasmic reticulum stress induces cartilage pathology

The chondrocyte clock gene Bmal1 controls cartilage homeostasis and integrity.

The collagens of hydra provide insight into the evolution of metazoan extracellular matrices.

The evolution of the vertebrate metzincins; insights from Ciona intestinalis and Danio rerio

The expression and function of microRNAs in chondrogenesis and osteoarthritis.

The integrins of the urochordate Ciona intestinalis provide novel insights into the molecular evolution of the vertebrate integrin family.

The intervertebral disc contains intrinsic circadian clocks that are regulated by age and cytokines and linked to degeneration

The involvement of matrix glycoproteins in vascular calcification and fibrosis: an immunohistochemical study

The ribosomal protein QM is expressed differentially during vertebrate endochondral bone development.

The unfolded protein response and its relevance to connective tissue diseases.

Transcriptional profiling of chondrodysplasia growth plate cartilage reveals adaptive ER-stress networks that allow survival but disrupt hypertrophy

Visualizing and Quantifying Intracellular Behavior and Abundance of the Core Circadian Clock Protein PERIOD2.

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

XBP1-Independent UPR Pathways Suppress C/EBP-β Mediated Chondrocyte Differentiation in ER-Stress Related Skeletal Disease