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

Boot-Handford RP.

Int J Exp Pathol. 2019 Feb;100(1):4-11. doi: 10.1111/iep.12311. Epub 2019 Mar 26. Review.


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

Bell PA, Dennis EP, Hartley CL, Jackson RM, Porter A, Boot-Handford RP, Pirog KA, Briggs MD.

Cell Stress Chaperones. 2019 Jan;24(1):159-173. doi: 10.1007/s12192-018-0953-7. Epub 2018 Dec 12.


ADAMTS10-mediated tissue disruption in Weill-Marchesani syndrome.

Mularczyk EJ, Singh M, Godwin ARF, Galli F, Humphreys N, Adamson AD, Mironov A, Cain SA, Sengle G, Boot-Handford RP, Cossu G, Kielty CM, Baldock C.

Hum Mol Genet. 2018 Nov 1;27(21):3675-3687. doi: 10.1093/hmg/ddy276.


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

Forouhan M, Mori K, Boot-Handford RP.

Matrix Biol. 2018 Sep;70:50-71. doi: 10.1016/j.matbio.2018.03.004. Epub 2018 Mar 6.


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

Soul J, Dunn SL, Anand S, Serracino-Inglott F, Schwartz JM, Boot-Handford RP, Hardingham TE.

Ann Rheum Dis. 2018 Mar;77(3):423. doi: 10.1136/annrheumdis-2017-212603. Epub 2017 Dec 22. Erratum in: Ann Rheum Dis. 2018 Apr 19;:.


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

Mullan LA, Mularczyk EJ, Kung LH, Forouhan M, Wragg JM, Goodacre R, Bateman JF, Swanton E, Briggs MD, Boot-Handford RP.

J Clin Invest. 2017 Oct 2;127(10):3861-3865. doi: 10.1172/JCI93094. Epub 2017 Sep 18.


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

Soul J, Dunn SL, Hardingham TE, Boot-Handford RP, Schwartz JM.

Bioinformatics. 2016 Dec 15;32(24):3847-3849. Epub 2016 Aug 24.


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

Dudek M, Yang N, Ruckshanthi JP, Williams J, Borysiewicz E, Wang P, Adamson A, Li J, Bateman JF, White MR, Boot-Handford RP, Hoyland JA, Meng QJ.

Ann Rheum Dis. 2017 Mar;76(3):576-584. doi: 10.1136/annrheumdis-2016-209428. Epub 2016 Aug 3.


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

Dunn SL, Soul J, Anand S, Schwartz JM, Boot-Handford RP, Hardingham TE.

Osteoarthritis Cartilage. 2016 Aug;24(8):1431-40. doi: 10.1016/j.joca.2016.03.007. Epub 2016 Mar 10.


The chondrocyte clock gene Bmal1 controls cartilage homeostasis and integrity.

Dudek M, Gossan N, Yang N, Im HJ, Ruckshanthi JP, Yoshitane H, Li X, Jin D, Wang P, Boudiffa M, Bellantuono I, Fukada Y, Boot-Handford RP, Meng QJ.

J Clin Invest. 2016 Jan;126(1):365-76. doi: 10.1172/JCI82755. Epub 2015 Dec 14.


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

Guo B, Yang N, Borysiewicz E, Dudek M, Williams JL, Li J, Maywood ES, Adamson A, Hastings MH, Bateman JF, White MR, Boot-Handford RP, Meng QJ.

Osteoarthritis Cartilage. 2015 Nov;23(11):1981-8. doi: 10.1016/j.joca.2015.02.020.


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

Cameron TL, Bell KM, Gresshoff IL, Sampurno L, Mullan L, Ermann J, Glimcher LH, Boot-Handford RP, Bateman JF.

PLoS Genet. 2015 Sep 15;11(9):e1005505. doi: 10.1371/journal.pgen.1005505. eCollection 2015 Sep.


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

Kung LH, Rajpar MH, Preziosi R, Briggs MD, Boot-Handford RP.

PLoS One. 2015 Feb 18;10(2):e0117016. doi: 10.1371/journal.pone.0117016. eCollection 2015.


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

Soul J, Hardingham TE, Boot-Handford RP, Schwartz JM.

Sci Rep. 2015 Jan 29;5:8117. doi: 10.1038/srep08117.


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

Cameron TL, Gresshoff IL, Bell KM, Piróg KA, Sampurno L, Hartley CL, Sanford EM, Wilson R, Ermann J, Boot-Handford RP, Glimcher LH, Briggs MD, Bateman JF.

Osteoarthritis Cartilage. 2015 Apr;23(4):661-70. doi: 10.1016/j.joca.2015.01.001. Epub 2015 Jan 17.


Arhgap28 is a RhoGAP that inactivates RhoA and downregulates stress fibers.

Yeung CY, Taylor SH, Garva R, Holmes DF, Zeef LA, Soininen R, Boot-Handford RP, Kadler KE.

PLoS One. 2014 Sep 11;9(9):e107036. doi: 10.1371/journal.pone.0107036. eCollection 2014.


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

Piróg KA, Irman A, Young S, Halai P, Bell PA, Boot-Handford RP, Briggs MD.

PLoS One. 2014 Feb 18;9(2):e85145. doi: 10.1371/journal.pone.0085145. eCollection 2014.


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.

Gualeni B, Rajpar MH, Kellogg A, Bell PA, Arvan P, Boot-Handford RP, Briggs MD.

Dis Model Mech. 2013 Nov;6(6):1414-25. doi: 10.1242/dmm.013342. Epub 2013 Sep 12.


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

Hartley CL, Edwards S, Mullan L, Bell PA, Fresquet M, Boot-Handford RP, Briggs MD.

Hum Mol Genet. 2013 Dec 20;22(25):5262-75. doi: 10.1093/hmg/ddt383. Epub 2013 Aug 15.


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

Bell PA, Wagener R, Zaucke F, Koch M, Selley J, Warwood S, Knight D, Boot-Handford RP, Thornton DJ, Briggs MD.

Biol Open. 2013 Jun 18;2(8):802-11. doi: 10.1242/bio.20135280. eCollection 2013 Aug 15.


The circadian clock in murine chondrocytes regulates genes controlling key aspects of cartilage homeostasis.

Gossan N, Zeef L, Hensman J, Hughes A, Bateman JF, Rowley L, Little CB, Piggins HD, Rattray M, Boot-Handford RP, Meng QJ.

Arthritis Rheum. 2013 Sep;65(9):2334-45. doi: 10.1002/art.38035.


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

Robins GG, MacLennan KA, Boot-Handford RP, Sandle GI.

J Physiol Biochem. 2013 Sep;69(3):419-27. doi: 10.1007/s13105-012-0223-6. Epub 2012 Nov 25.


Hypertrophic chondrocytes have a limited capacity to cope with increases in endoplasmic reticulum stress without triggering the unfolded protein response.

Kung LH, Rajpar MH, Briggs MD, Boot-Handford RP.

J Histochem Cytochem. 2012 Oct;60(10):734-48. Epub 2012 Aug 1.


Collagen XXVII organises the pericellular matrix in the growth plate.

Plumb DA, Ferrara L, Torbica T, Knowles L, Mironov A Jr, Kadler KE, Briggs MD, Boot-Handford RP.

PLoS One. 2011;6(12):e29422. doi: 10.1371/journal.pone.0029422. Epub 2011 Dec 19.


The expression and function of microRNAs in chondrogenesis and osteoarthritis.

Swingler TE, Wheeler G, Carmont V, Elliott HR, Barter MJ, Abu-Elmagd M, Donell ST, Boot-Handford RP, Hajihosseini MK, Münsterberg A, Dalmay T, Young DA, Clark IM.

Arthritis Rheum. 2012 Jun;64(6):1909-19. doi: 10.1002/art.34314. Epub 2011 Dec 5.


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

Bell PA, Piróg KA, Fresquet M, Thornton DJ, Boot-Handford RP, Briggs MD.

Arthritis Rheum. 2012 May;64(5):1529-39. doi: 10.1002/art.33486.


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

Suleman F, Gualeni B, Gregson HJ, Leighton MP, Piróg KA, Edwards S, Holden P, Boot-Handford RP, Briggs MD.

Hum Mutat. 2012 Jan;33(1):218-31. doi: 10.1002/humu.21631. Epub 2011 Nov 17.


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

Cameron TL, Bell KM, Tatarczuch L, Mackie EJ, Rajpar MH, McDermott BT, Boot-Handford RP, Bateman JF.

PLoS One. 2011;6(9):e24600. doi: 10.1371/journal.pone.0024600. Epub 2011 Sep 15.


Superoxide dismutase downregulation in osteoarthritis progression and end-stage disease.

Scott JL, Gabrielides C, Davidson RK, Swingler TE, Clark IM, Wallis GA, Boot-Handford RP, Kirkwood TB, Taylor RW, Young DA.

Ann Rheum Dis. 2010 Aug;69(8):1502-10. doi: 10.1136/ard.2009.119966. Epub 2010 May 28. Erratum in: Ann Rheum Dis. 2011 Feb;70(2):397. Talyor, Robert W [corrected to Taylor, Robert W].


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

Nundlall S, Rajpar MH, Bell PA, Clowes C, Zeeff LA, Gardner B, Thornton DJ, Boot-Handford RP, Briggs MD.

Cell Stress Chaperones. 2010 Nov;15(6):835-49. doi: 10.1007/s12192-010-0193-y. Epub 2010 Apr 30.


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

Boot-Handford RP, Briggs MD.

Cell Tissue Res. 2010 Jan;339(1):197-211. doi: 10.1007/s00441-009-0877-8. Epub 2009 Oct 23. Review.


Targeted induction of endoplasmic reticulum stress induces cartilage pathology.

Rajpar MH, McDermott B, Kung L, Eardley R, Knowles L, Heeran M, Thornton DJ, Wilson R, Bateman JF, Poulsom R, Arvan P, Kadler KE, Briggs MD, Boot-Handford RP.

PLoS Genet. 2009 Oct;5(10):e1000691. doi: 10.1371/journal.pgen.1000691. Epub 2009 Oct 16.


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

Piróg KA, Jaka O, Katakura Y, Meadows RS, Kadler KE, Boot-Handford RP, Briggs MD.

Hum Mol Genet. 2010 Jan 1;19(1):52-64. doi: 10.1093/hmg/ddp466.


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

Huxley-Jones J, Pinney JW, Archer J, Robertson DL, Boot-Handford RP.

Int J Exp Pathol. 2009 Apr;90(2):95-100. doi: 10.1111/j.1365-2613.2008.00637.x. Review.


Genetic diseases of connective tissues: cellular and extracellular effects of ECM mutations.

Bateman JF, Boot-Handford RP, Lamandé SR.

Nat Rev Genet. 2009 Mar;10(3):173-83. doi: 10.1038/nrg2520. Review.


Gene expression in human chondrocytes in late osteoarthritis is changed in both fibrillated and intact cartilage without evidence of generalised chondrocyte hypertrophy.

Brew CJ, Clegg PD, Boot-Handford RP, Andrew JG, Hardingham T.

Ann Rheum Dis. 2010 Jan;69(1):234-40. doi: 10.1136/ard.2008.097139.


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

Park H, Huxley-Jones J, Boot-Handford RP, Bishop PN, Attwood TK, Bella J.

BMC Genomics. 2008 Dec 12;9:599. doi: 10.1186/1471-2164-9-599.


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

Hyde G, Boot-Handford RP, Wallis GA.

J Anat. 2008 Nov;213(5):531-8. doi: 10.1111/j.1469-7580.2008.00966.x.


The biology of the circadian Ck1epsilon tau mutation in mice and Syrian hamsters: a tale of two species.

Loudon AS, Meng QJ, Maywood ES, Bechtold DA, Boot-Handford RP, Hastings MH.

Cold Spring Harb Symp Quant Biol. 2007;72:261-71. doi: 10.1101/sqb.2007.72.073. Review.


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

Meng QJ, Logunova L, Maywood ES, Gallego M, Lebiecki J, Brown TM, Sládek M, Semikhodskii AS, Glossop NRJ, Piggins HD, Chesham JE, Bechtold DA, Yoo SH, Takahashi JS, Virshup DM, Boot-Handford RP, Hastings MH, Loudon ASI.

Neuron. 2008 Apr 10;58(1):78-88. doi: 10.1016/j.neuron.2008.01.019.


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

Hadfield KD, Rock CF, Inkson CA, Dallas SL, Sudre L, Wallis GA, Boot-Handford RP, Canfield AE.

J Biol Chem. 2008 Feb 29;283(9):5928-38. Epub 2007 Dec 22.


Bub1 maintains centromeric cohesion by activation of the spindle checkpoint.

Perera D, Tilston V, Hopwood JA, Barchi M, Boot-Handford RP, Taylor SS.

Dev Cell. 2007 Oct;13(4):566-79.


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

Wang X, Nadarajah B, Robinson AC, McColl BW, Jin JW, Dajas-Bailador F, Boot-Handford RP, Tournier C.

Mol Cell Biol. 2007 Nov;27(22):7935-46. Epub 2007 Sep 17.


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.

Piróg-Garcia KA, Meadows RS, Knowles L, Heinegård D, Thornton DJ, Kadler KE, Boot-Handford RP, Briggs MD.

Hum Mol Genet. 2007 Sep 1;16(17):2072-88. Epub 2007 Jun 22.


Collagens at a glance.

Kadler KE, Baldock C, Bella J, Boot-Handford RP.

J Cell Sci. 2007 Jun 15;120(Pt 12):1955-8. Review. No abstract available.


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.

Leighton MP, Nundlall S, Starborg T, Meadows RS, Suleman F, Knowles L, Wagener R, Thornton DJ, Kadler KE, Boot-Handford RP, Briggs MD.

Hum Mol Genet. 2007 Jul 15;16(14):1728-41. Epub 2007 May 21.


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

Huxley-Jones J, Clarke TK, Beck C, Toubaris G, Robertson DL, Boot-Handford RP.

BMC Evol Biol. 2007 Apr 17;7:63.


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

Ho MS, Tsang KY, Lo RL, Susic M, Mäkitie O, Chan TW, Ng VC, Sillence DO, Boot-Handford RP, Gibson G, Cheung KM, Cole WG, Cheah KS, Chan D.

Hum Mol Genet. 2007 May 15;16(10):1201-15. Epub 2007 Apr 2.


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

Plumb DA, Dhir V, Mironov A, Ferrara L, Poulsom R, Kadler KE, Thornton DJ, Briggs MD, Boot-Handford RP.

J Biol Chem. 2007 Apr 27;282(17):12791-5. Epub 2007 Feb 28.

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