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Items: 1 to 20 of 110


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.


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.


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.


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.


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.


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.


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.


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.


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

Cotterill SL, Jackson GC, Leighton MP, Wagener R, Mäkitie O, Cole WG, Briggs MD.

Hum Mutat. 2005 Dec;26(6):557-65.


An inducible cartilage oligomeric matrix protein mouse model recapitulates human pseudoachondroplasia phenotype.

Posey KL, Veerisetty AC, Liu P, Wang HR, Poindexter BJ, Bick R, Alcorn JL, Hecht JT.

Am J Pathol. 2009 Oct;175(4):1555-63. doi: 10.2353/ajpath.2009.090184. Epub 2009 Sep 17.


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.


COMP mutations, chondrocyte function and cartilage matrix.

Hecht JT, Hayes E, Haynes R, Cole WG.

Matrix Biol. 2005 Jan;23(8):525-33. Epub 2004 Nov 18.


Chop (Ddit3) is essential for D469del-COMP retention and cell death in chondrocytes in an inducible transgenic mouse model of pseudoachondroplasia.

Posey KL, Coustry F, Veerisetty AC, Liu P, Alcorn JL, Hecht JT.

Am J Pathol. 2012 Feb;180(2):727-37. doi: 10.1016/j.ajpath.2011.10.035. Epub 2011 Dec 7.


Selective intracellular retention of extracellular matrix proteins and chaperones associated with pseudoachondroplasia.

Vranka J, Mokashi A, Keene DR, Tufa S, Corson G, Sussman M, Horton WA, Maddox K, Sakai L, Bächinger HP.

Matrix Biol. 2001 Nov;20(7):439-50.


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.


Comparative proteomic analysis of normal and collagen IX null mouse cartilage reveals altered extracellular matrix composition and novel components of the collagen IX interactome.

Brachvogel B, Zaucke F, Dave K, Norris EL, Stermann J, Dayakli M, Koch M, Gorman JJ, Bateman JF, Wilson R.

J Biol Chem. 2013 May 10;288(19):13481-92. doi: 10.1074/jbc.M112.444810. Epub 2013 Mar 24.


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.


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.


RNAi reduces expression and intracellular retention of mutant cartilage oligomeric matrix protein.

Posey KL, Liu P, Wang HR, Veerisetty AC, Alcorn JL, Hecht JT.

PLoS One. 2010 Apr 22;5(4):e10302. doi: 10.1371/journal.pone.0010302.


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.

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