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

Nature reviews. Genetics, 2009-03, Vol.10 (3), p.173-183

2009

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Resveratrol Promotes Hypertrophy in Wildtype Skeletal Muscle and Reduces Muscle Necrosis and Gene Expression of Inflammatory Markers in Mdx Mice

Molecules (Basel, Switzerland), 2021-02, Vol.26 (4), p.853

2021

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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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A phase 2 open-label study of the safety and efficacy of weekly dosing of ATL1102 in patients with non-ambulatory Duchenne muscular dystrophy and pharmacology in mdx mice

PloS one, 2024-01, Vol.19 (1), p.e0294847-e0294847

2024

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Collagen VI Muscle Disorders: Mutation Types, Pathogenic Mechanisms and Approaches to Therapy

Advances in experimental medicine and biology, 2021, Vol.1348, p.311-323

2021

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Collagen misfolding mutations: the contribution of the unfolded protein response to the molecular pathology

Connective tissue research, 2022-05, Vol.63 (3), p.210-227

2022

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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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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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Nutraceuticals and Their Potential to Treat Duchenne Muscular Dystrophy: Separating the Credible from the Conjecture

Nutrients, 2016-11, Vol.8 (11), p.713

2016

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Modulating the Mechanical Activation of TRPV4 at the Cell-Substrate Interface

Frontiers in bioengineering and biotechnology, 2021-01, Vol.8, p.608951-608951

2021

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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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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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Contrast-Enhanced Micro–Computed Tomography for 3D Visualization and Quantification of Glycosaminoglycans in Different Cartilage Types

Cartilage, 2021-12, Vol.13 (2_suppl), p.486S-494S

2021

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Multiscale Strain Transfer in Cartilage

Frontiers in cell and developmental biology, 2022-02, Vol.10, p.795522-795522

2022

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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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CRISPR/Cas9 gene editing of a SOX9 reporter human iPSC line to produce two TRPV4 patient heterozygous missense mutant iPSC lines, MCRIi001-A-3 (TRPV4 p.F273L) and MCRIi001-A-4 (TRPV4 p.P799L)

Stem cell research, 2020-10, Vol.48, p.101942-101942, Article 101942

2020

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Generation of a SOX9-tdTomato reporter human iPSC line, MCRIi001-A-2, using CRISPR/Cas9 editing

Stem cell research, 2020-01, Vol.42, p.101689-101689, Article 101689

2020

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Generation of a miR-26b stem-loop knockout human iPSC line, MCRIi019-A-1, using CRISPR/Cas9 editing

Stem cell research, 2021-01, Vol.50, p.102118-102118, Article 102118

2021

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Generation of a heterozygous COL2A1 (p.R989C) spondyloepiphyseal dysplasia congenita mutation iPSC line, MCRIi001-B, using CRISPR/Cas9 gene editing

Stem cell research, 2020-05, Vol.45, p.101843-101843, Article 101843

2020

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Generating an iPSC line (with isogenic control) from the PBMCs of an ACTA1 (p.Gly148Asp) nemaline myopathy patient

Stem cell research, 2021-07, Vol.54, p.102429-102429, Article 102429

2021

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Aberrant Mitochondria in a Bethlem Myopathy Patient with a Homozygous Amino Acid Substitution That Destabilizes the Collagen VI α2(VI) Chain

The Journal of biological chemistry, 2015-02, Vol.290 (7), p.4272-4281

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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Autosomal dominant congenital spinal muscular atrophy: a true form of spinal muscular atrophy caused by early loss of anterior horn cells

Brain (London, England : 1878), 2012-06, Vol.135 (Pt 6), p.1714-1723

2012

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

Genetic Disorders of the Extracellular Matrix

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

Resveratrol Promotes Hypertrophy in Wildtype Skeletal Muscle and Reduces Muscle Necrosis and Gene Expression of Inflammatory Markers in Mdx Mice

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

A phase 2 open-label study of the safety and efficacy of weekly dosing of ATL1102 in patients with non-ambulatory Duchenne muscular dystrophy and pharmacology in mdx mice

Collagen VI Muscle Disorders: Mutation Types, Pathogenic Mechanisms and Approaches to Therapy

Collagen misfolding mutations: the contribution of the unfolded protein response to the molecular pathology

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

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

Nutraceuticals and Their Potential to Treat Duchenne Muscular Dystrophy: Separating the Credible from the Conjecture

Modulating the Mechanical Activation of TRPV4 at the Cell-Substrate Interface

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

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

Contrast-Enhanced Micro–Computed Tomography for 3D Visualization and Quantification of Glycosaminoglycans in Different Cartilage Types

Multiscale Strain Transfer in Cartilage

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

CRISPR/Cas9 gene editing of a SOX9 reporter human iPSC line to produce two TRPV4 patient heterozygous missense mutant iPSC lines, MCRIi001-A-3 (TRPV4 p.F273L) and MCRIi001-A-4 (TRPV4 p.P799L)

Generation of a SOX9-tdTomato reporter human iPSC line, MCRIi001-A-2, using CRISPR/Cas9 editing

Generation of a miR-26b stem-loop knockout human iPSC line, MCRIi019-A-1, using CRISPR/Cas9 editing

Generation of a heterozygous COL2A1 (p.R989C) spondyloepiphyseal dysplasia congenita mutation iPSC line, MCRIi001-B, using CRISPR/Cas9 gene editing

Generating an iPSC line (with isogenic control) from the PBMCs of an ACTA1 (p.Gly148Asp) nemaline myopathy patient

Aberrant Mitochondria in a Bethlem Myopathy Patient with a Homozygous Amino Acid Substitution That Destabilizes the Collagen VI α2(VI) Chain

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

Autosomal dominant congenital spinal muscular atrophy: a true form of spinal muscular atrophy caused by early loss of anterior horn cells

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