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Genetic Disorders of the Extracellular Matrix

Anatomical record (Hoboken, N.J. : 2007), 2020-06, Vol.303 (6), p.1527-1542

2020

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Identification of the skeletal progenitor cells forming osteophytes in osteoarthritis

Annals of the rheumatic diseases, 2020-12, Vol.79 (12), p.1625-1634

2020

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The Circadian Clock in Murine Chondrocytes Regulates Genes Controlling Key Aspects of Cartilage Homeostasis

Arthritis & rheumatology (Hoboken, N.J.), 2013-09, Vol.65 (9), p.2334-2345

2013

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

The Journal of clinical investigation, 2017-10, Vol.127 (10), p.3861-3865

2017

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Generation of a heterozygous COL2A1 (p.G1113C) hypochondrogenesis mutation iPSC line, MCRIi019-A-7, using CRISPR/Cas9 gene editing

Stem cell research, 2021-10, Vol.56, p.102515-102515, Article 102515

2021

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Autophagic elimination of misfolded procollagen aggregates in the endoplasmic reticulum as a means of cell protection

Molecular biology of the cell, 2009-06, Vol.20 (11), p.2744-2754

2009

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

Arthritis research & therapy, 2019-09, Vol.21 (1), p.206-13, Article 206

2019

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Targeted induction of endoplasmic reticulum stress induces cartilage pathology

PLoS genetics, 2009-10, Vol.5 (10), p.e1000691

2009

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

PLoS genetics, 2019-07, Vol.15 (7), p.e1008215-e1008215

2019

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Cartilage Intermediate Layer Protein 2 (CILP-2) Is Expressed in Articular and Meniscal Cartilage and Down-regulated in Experimental Osteoarthritis

The Journal of biological chemistry, 2011-10, Vol.286 (43), p.37758-37767

2011

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Mutations in TRPV4 cause an inherited arthropathy of hands and feet

Nature genetics, 2011-11, Vol.43 (11), p.1142-1146

2011

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Collagen VI disorders: Insights on form and function in the extracellular matrix and beyond

Matrix biology, 2018-10, Vol.71-72, p.348-367

2018

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Transcriptomics of Wild‐Type Mice and Mice Lacking ADAMTS‐5 Activity Identifies Genes Involved in Osteoarthritis Initiation and Cartilage Destruction

Arthritis & rheumatology (Hoboken, N.J.), 2013-06, Vol.65 (6), p.1547-1560

2013

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Cauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling Jeune syndrome

PLoS genetics, 2013-08, Vol.9 (8), p.e1003746-e1003746

2013

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Using CRISPR/Cas9 to generate a heterozygous COL2A1 p.R719C iPSC line (MCRIi019-A-6) model of human precocious osteoarthritis

Stem cell research, 2023-03, Vol.67, p.103020-103020, Article 103020

2023

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Changes in the Chondrocyte and Extracellular Matrix Proteome during Post-natal Mouse Cartilage Development

Molecular & cellular proteomics, 2012-01, Vol.11 (1), p.M111.014159-M111.014159, Article M111.014159

2012

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Nonsense-mediated mRNA decay of collagen -emerging complexity in RNA surveillance mechanisms

Journal of cell science, 2013-06, Vol.126 (Pt 12), p.2551-2560

2013

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

PLoS genetics, 2015-09, Vol.11 (9), p.e1005505-e1005505

2015

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Identification of Two Independent COL5A1 Variants in Dogs with Ehlers-Danlos Syndrome

Genes, 2019-09, Vol.10 (10), p.731

2019

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CRISPR/Cas9 editing to generate a heterozygous COL2A1 p.G1170S human chondrodysplasia iPSC line, MCRIi019-A-2, in a control iPSC line, MCRIi019-A

Stem cell research, 2020-10, Vol.48, p.101962-101962, Article 101962

2020

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Complexes of Matrilin-1 and Biglycan or Decorin Connect Collagen VI Microfibrils to Both Collagen II and Aggrecan

The Journal of biological chemistry, 2003-09, Vol.278 (39), p.37698-37704

2003

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Comprehensive Profiling of Cartilage Extracellular Matrix Formation and Maturation Using Sequential Extraction and Label-free Quantitative Proteomics

Molecular & cellular proteomics, 2010-06, Vol.9 (6), p.1296-1313

2010

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Generation of a heterozygous COL1A1 (c.3969_3970insT) osteogenesis imperfecta mutation human iPSC line, MCRIi001-A-1, using CRISPR/Cas9 editing

Stem cell research, 2019-05, Vol.37, p.101449-101449, Article 101449

2019

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

PloS one, 2011-09, Vol.6 (9), p.e24600-e24600

2011

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The use of simultaneous reprogramming and gene correction to generate an osteogenesis imperfecta patient COL1A1 c. 3936 G>T iPSC line and an isogenic control iPSC line

Stem cell research, 2019-07, Vol.38, p.101453-101453, Article 101453

2019

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Genetic Disorders of the Extracellular Matrix

Identification of the skeletal progenitor cells forming osteophytes in osteoarthritis

The Circadian Clock in Murine Chondrocytes Regulates Genes Controlling Key Aspects of Cartilage Homeostasis

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

Generation of a heterozygous COL2A1 (p.G1113C) hypochondrogenesis mutation iPSC line, MCRIi019-A-7, using CRISPR/Cas9 gene editing

Autophagic elimination of misfolded procollagen aggregates in the endoplasmic reticulum as a means of cell protection

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

Targeted induction of endoplasmic reticulum stress induces cartilage pathology

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

Cartilage Intermediate Layer Protein 2 (CILP-2) Is Expressed in Articular and Meniscal Cartilage and Down-regulated in Experimental Osteoarthritis

Mutations in TRPV4 cause an inherited arthropathy of hands and feet

Collagen VI disorders: Insights on form and function in the extracellular matrix and beyond

Transcriptomics of Wild‐Type Mice and Mice Lacking ADAMTS‐5 Activity Identifies Genes Involved in Osteoarthritis Initiation and Cartilage Destruction

Cauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling Jeune syndrome

Using CRISPR/Cas9 to generate a heterozygous COL2A1 p.R719C iPSC line (MCRIi019-A-6) model of human precocious osteoarthritis

Changes in the Chondrocyte and Extracellular Matrix Proteome during Post-natal Mouse Cartilage Development

Nonsense-mediated mRNA decay of collagen -emerging complexity in RNA surveillance mechanisms

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

Identification of Two Independent COL5A1 Variants in Dogs with Ehlers-Danlos Syndrome

CRISPR/Cas9 editing to generate a heterozygous COL2A1 p.G1170S human chondrodysplasia iPSC line, MCRIi019-A-2, in a control iPSC line, MCRIi019-A

Complexes of Matrilin-1 and Biglycan or Decorin Connect Collagen VI Microfibrils to Both Collagen II and Aggrecan

Comprehensive Profiling of Cartilage Extracellular Matrix Formation and Maturation Using Sequential Extraction and Label-free Quantitative Proteomics

Generation of a heterozygous COL1A1 (c.3969_3970insT) osteogenesis imperfecta mutation human iPSC line, MCRIi001-A-1, using CRISPR/Cas9 editing

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

The use of simultaneous reprogramming and gene correction to generate an osteogenesis imperfecta patient COL1A1 c. 3936 G>T iPSC line and an isogenic control iPSC line

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