Basement membrane collagens and disease mechanisms

Clinically Relevant Correction of Recessive Dystrophic Epidermolysis Bullosa by Dual sgRNA CRISPR/Cas9-Mediated Gene Editing

(2019) Jose Bonafont et al.   MOLECULAR THERAPY

Role of adiponectin in the metabolism of skeletal muscles in collagen VI–related myopathies

(2019) Tania Gamberi et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

COL4A1 Mutations Cause Neuromuscular Disease with Tissue-Specific Mechanistic Heterogeneity

(2019) Cassandre Labelle-Dumais et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Stem cell competition orchestrates skin homeostasis and ageing

(2019) Nan Liu et al.   NATURE

Stem Cells in the Treatment of Disease

(2019) Helen M. Blau et al.   NEW ENGLAND JOURNAL OF MEDICINE

Collagen VI is required for the structural and functional integrity of the neuromuscular junction

(2018) Matilde Cescon et al.   ACTA NEUROPATHOLOGICA

Life before and beyond blistering: The role of collagen XVII in epidermal physiology

(2018) Ken Natsuga et al.   EXPERIMENTAL DERMATOLOGY

Genetic Suppression of Basement Membrane Defects inCaenorhabditis elegansby Gain of Function in Extracellular Matrix and Cell-Matrix Attachment Genes

(2018) Jennifer R. Gotenstein et al.   GENETICS

Epidermal aspects of type VII collagen: Implications for dystrophic epidermolysis bullosa and epidermolysis bullosa acquisita

(2018) Mika Watanabe et al.   JOURNAL OF DERMATOLOGY

Should We Increase GFR with Bardoxolone in Alport Syndrome?

(2018) Colin Baigent et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Alport syndrome: a unified classification of genetic disorders of collagen IV α345: a position paper of the Alport Syndrome Classification Working Group

(2018) Clifford E. Kashtan et al.   KIDNEY INTERNATIONAL

Lysyl oxidase like-2 contributes to renal fibrosis in Col4α3/Alport mice

(2018) Dominic Cosgrove et al.   KIDNEY INTERNATIONAL

Epidermolysis bullosa: Molecular pathology of connective tissue components in the cutaneous basement membrane zone

(2018) Cristina Has et al.   MATRIX BIOLOGY

Advances in therapeutic use of a drug-stimulated translational readthrough of premature termination codons

(2018) Maciej Dabrowski et al.   MOLECULAR MEDICINE

SP121A PHASE 2/3 STUDY OF THE EFFICACY AND SAFETY OF BARDOXOLONE METHYL IN PATIENTS WITH ALPORT SYNDROME

(2018) Oliver Gross et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Efficacy of Human Placental-Derived Stem Cells in Collagen VII Knockout (Recessive Dystrophic Epidermolysis Bullosa) Animal Model

(2018) Yanling Liao et al.   Stem Cells Translational Medicine

Genetic Suppression of Basement Membrane Defects inCaenorhabditis elegansby Gain of Function in Extracellular Matrix and Cell-Matrix Attachment Genes

(2018) Jennifer R. Gotenstein et al.   GENETICS

Basement Membrane Defects in Genetic Kidney Diseases

(2018) Christine Chew et al.   Frontiers in Pediatrics

DNA-Encoded Library-Derived DDR1 Inhibitor Prevents Fibrosis and Renal Function Loss in a Genetic Mouse Model of Alport Syndrome

(2018) Hans Richter et al.   ACS Chemical Biology

4-Sodium phenyl butyric acid has both efficacy and counter-indicative effects in the treatment of Col4a1 disease

(2018) Frances E Jones et al.   HUMAN MOLECULAR GENETICS

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

(2017) Lorna A. Mullan et al.   JOURNAL OF CLINICAL INVESTIGATION

Pathogenicity of a Human Lamininβ2 Mutation Revealed in Models of Alport Syndrome

(2017) Steven D. Funk et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Collagen XVIII in tissue homeostasis and dysregulation — Lessons learned from model organisms and human patients

(2017) Ritva Heljasvaara et al.   MATRIX BIOLOGY

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

(2017) Shireen R. Lamandé et al.   MATRIX BIOLOGY

Therapies for genetic extracellular matrix diseases of the skin

(2017) Alexander Nyström et al.   MATRIX BIOLOGY

Proteomic definitions of basement membrane composition in health and disease

(2017) Michael J. Randles et al.   MATRIX BIOLOGY

Genotype-phenotype correlations in pathology caused by collagen type IV alpha 1 and 2 mutations

(2017) Marion Jeanne et al.   MATRIX BIOLOGY

STAT3 inhibition attenuates the progressive phenotypes of Alport syndrome mouse model

(2017) Tsubasa Yokota et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Exome Sequencing Identifies Candidate Genetic Modifiers of Syndromic and Familial Thoracic Aortic Aneurysm Severity

(2017) Benjamin J. Landis et al.   Journal of Cardiovascular Translational Research

Type XVII collagen coordinates proliferation in the interfollicular epidermis

(2017) Mika Watanabe et al.   eLife

Gapmer Antisense Oligonucleotides Suppress the Mutant Allele of COL6A3 and Restore Functional Protein in Ullrich Muscular Dystrophy

(2017) Elena Marrosu et al.   Molecular Therapy-Nucleic Acids

Disruption of a miR-29 binding site leading toCOL4A1upregulation causes pontine autosomal dominant microangiopathy with leukoencephalopathy

(2016) Edgard Verdura et al.   ANNALS OF NEUROLOGY

Autophagy activation in COL6 myopathic patients by a low-protein-diet pilot trial

(2016) Silvia Castagnaro et al.   Autophagy

Absence of collagen XVIII in mice causes age-related insufficiency in retinal pigment epithelium proteostasis

(2016) Niko Kivinen et al.   BIOGERONTOLOGY

ER stress and basement membrane defects combine to cause glomerular and tubular renal disease resulting fromCol4a1mutations in mice

(2016) Frances E. Jones et al.   Disease Models & Mechanisms

Association of kidney structure-related gene variants with type 2 diabetes-attributed end-stage kidney disease in African Americans

(2016) Meijian Guan et al.   HUMAN GENETICS

Safety and Wound Outcomes Following Genetically Corrected Autologous Epidermal Grafts in Patients With Recessive Dystrophic Epidermolysis Bullosa

(2016) Zurab Siprashvili et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Highly branched poly(β-amino ester)s for skin gene therapy

(2016) Dezhong Zhou et al.   JOURNAL OF CONTROLLED RELEASE

Targeted Exon Skipping Restores Type VII Collagen Expression and Anchoring Fibril Formation in an In Vivo RDEB Model

(2016) Sandrina Turczynski et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Slow Muscle Precursors Lay Down a Collagen XV Matrix Fingerprint to Guide Motor Axon Navigation

(2016) Emilie Guillon et al.   JOURNAL OF NEUROSCIENCE

Endothelin A receptor activation on mesangial cells initiates Alport glomerular disease

(2016) Brianna Dufek et al.   KIDNEY INTERNATIONAL

Analysis of the functional consequences of targeted exon deletion in COL7A1 reveals prospects for dystrophic epidermolysis bullosa therapy

(2016) Olivier Bornert et al.   MOLECULAR THERAPY

Whole Exome Sequencing in Patients with the Cuticular Drusen Subtype of Age-Related Macular Degeneration

(2016) Maheswara R. Duvvari et al.   PLoS One

Site-specific genome editing for correction of induced pluripotent stem cells derived from dominant dystrophic epidermolysis bullosa

(2016) Satoru Shinkuma et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Intracellular mechanisms of molecular recognition and sorting for transport of large extracellular matrix molecules

(2016) Yoshihiro Ishikawa et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Hair follicle aging is driven by transepidermal elimination of stem cells via COL17A1 proteolysis

(2016) H. Matsumura et al.   SCIENCE

Coronary-Heart-Disease-Associated Genetic Variant at the COL4A1/COL4A2 Locus Affects COL4A1/COL4A2 Expression, Vascular Cell Survival, Atherosclerotic Plaque Stability and Risk of Myocardial Infarction

(2016) Wei Yang et al.   PLoS Genetics

COL4A6 is dispensable for autosomal recessive Alport syndrome

(2016) Tomohiro Murata et al.   Scientific Reports

Recessive Mutations in the α3 (VI) Collagen Gene COL6A3 Cause Early-Onset Isolated Dystonia

(2015) Michael Zech et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Reactivation of autophagy by spermidine ameliorates the myopathic defects of collagen VI-null mice

(2015) Martina Chrisam et al.   Autophagy

Molecular and Genetic Analyses of Collagen Type IV Mutant Mouse Models of Spontaneous Intracerebral Hemorrhage Identify Mechanisms for Stroke PreventionCLINICAL PERSPECTIVE

(2015) Marion Jeanne et al.   CIRCULATION

Losartan ameliorates dystrophic epidermolysis bullosa and uncovers new disease mechanisms

(2015) A. Nystrom et al.   EMBO Molecular Medicine

The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature

(2015) Marije E. C. Meuwissen et al.   GENETICS IN MEDICINE

Two novel COLVI long chains in zebrafish that are essential for muscle development

(2015) Laetitia Ramanoudjame et al.   HUMAN MOLECULAR GENETICS

Mutations in Collagen, Type XVII, Alpha 1 (COL17A1) Cause Epithelial Recurrent Erosion Dystrophy (ERED)

(2015) Frida Jonsson et al.   HUMAN MUTATION

A collagen VI–dependent pathogenic mechanism for Hirschsprung’s disease

(2015) Rodolphe Soret et al.   JOURNAL OF CLINICAL INVESTIGATION

Potential of Systemic Allogeneic Mesenchymal Stromal Cell Therapy for Children with Recessive Dystrophic Epidermolysis Bullosa

(2015) Gabriela Petrof et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

HANAC Syndrome Col4a1 Mutation Causes Neonate Glomerular Hyperpermeability and Adult Glomerulocystic Kidney Disease

(2015) Z. Chen et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Common variation in COL4A1/COL4A2 is associated with sporadic cerebral small vessel disease

(2015) K. Rannikmae et al.   NEUROLOGY

Type IV Collagen Controls the Axogenesis of Cerebellar Granule Cells by Regulating Basement Membrane Integrity in Zebrafish

(2015) Miki Takeuchi et al.   PLoS Genetics

Detection of Type VII Collagen Autoantibodies Before the Onset of Bullous Systemic Lupus Erythematosus

(2015) Daniel A. Grabell et al.   JAMA Dermatology

Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity

(2014) Gemma Bullich et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

NIM811, a cyclophilin inhibitor without immunosuppressive activity, is beneficial in collagen VI congenital muscular dystrophy models

(2014) A. Zulian et al.   HUMAN MOLECULAR GENETICS

A Mouse Model for Dominant Collagen VI Disorders

(2014) Te-Cheng Pan et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Anti–microRNA-21 oligonucleotides prevent Alport nephropathy progression by stimulating metabolic pathways

(2014) Ivan G. Gomez et al.   JOURNAL OF CLINICAL INVESTIGATION

Inherited epidermolysis bullosa: Updated recommendations on diagnosis and classification

(2014) Jo-David Fine et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

A mouse Col4a4 mutation causing Alport glomerulosclerosis with abnormal collagen α3α4α5(IV) trimers

(2014) Ron Korstanje et al.   KIDNEY INTERNATIONAL

Collagen receptors integrin alpha2beta1 and discoidin domain receptor 1 regulate maturation of the glomerular basement membrane and loss of integrin alpha2beta1 delays kidney fibrosis in COL4A3 knockout mice

(2014) Diana Rubel et al.   MATRIX BIOLOGY

Alport syndrome from bench to bedside: the potential of current treatment beyond RAAS blockade and the horizon of future therapies

(2014) O. Gross et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Laminin α2-Mediated Focal Adhesion Kinase Activation Triggers Alport Glomerular Pathogenesis

(2014) Duane Delimont et al.   PLoS One

Specific collagen XVIII isoforms promote adipose tissue accrual via mechanisms determining adipocyte number and affect fat deposition

(2014) M. Aikio et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Type IV collagen is an activating ligand for the adhesion G protein-coupled receptor GPR126

(2014) K. J. Paavola et al.   Science Signaling

Human COL7A1-corrected induced pluripotent stem cells for the treatment of recessive dystrophic epidermolysis bullosa

(2014) V. Sebastiano et al.   Science Translational Medicine

Human adipose-derived stem cell transplantation as a potential therapy for collagen VI-related congenital muscular dystrophy

(2014) Vitali Alexeev et al.   Stem Cell Research & Therapy

Allele-specific Gene Silencing of Mutant mRNA Restores Cellular Function in Ullrich Congenital Muscular Dystrophy Fibroblasts

(2014) Satoru Noguchi et al.   Molecular Therapy-Nucleic Acids

siRNA-mediated Allele-specific Silencing of a COL6A3 Mutation in a Cellular Model of Dominant Ullrich Muscular Dystrophy

(2014) Véronique Bolduc et al.   Molecular Therapy-Nucleic Acids

Variations inCOL15A1andCOL18A1influence age of onset of primary open angle glaucoma

(2013) J L Wiggs et al.   CLINICAL GENETICS

The expanded collagen VI family: new chains and new questions

(2013) Jamie Fitzgerald et al.   CONNECTIVE TISSUE RESEARCH

Type XVIII collagen is essential for survival during acute liver injury in mice

(2013) M. B. Duncan et al.   Disease Models & Mechanisms

Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6

(2013) Simone Rost et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Chemical chaperone treatment reduces intracellular accumulation of mutant collagen IV and ameliorates the cellular phenotype of a COL4A2 mutation that causes haemorrhagic stroke

(2013) Lydia S. Murray et al.   HUMAN MOLECULAR GENETICS

Position of Glycine Substitutions in the Triple Helix of COL6A1 , COL6A2 , and COL6A3 is Correlated with Severity and Mode of Inheritance in Collagen VI Myopathies

(2013) Russell J. Butterfield et al.   HUMAN MUTATION

Drosophila type XV/XVIII collagen mutants manifest integrin mediated mitochondrial dysfunction, which is improved by cyclosporin A and losartan

(2013) Ryusuke Momota et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Collagen VII plays a dual role in wound healing

(2013) Alexander Nyström et al.   JOURNAL OF CLINICAL INVESTIGATION

Intravenously Injected Recombinant Human Type VII Collagen Homes to Skin Wounds and Restores Skin Integrity of Dystrophic Epidermolysis Bullosa

(2013) David T. Woodley et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

A phase II randomized vehicle-controlled trial of intradermal allogeneic fibroblasts for recessive dystrophic epidermolysis bullosa

(2013) Supriya S. Venugopal et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

Successful therapeutic transplantation of revertant skin in epidermolysis bullosa

(2013) Antoni Gostyński et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

Evidence for Activation of the Unfolded Protein Response in Collagen IV Nephropathies

(2013) M. Pieri et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Feasibility of Repairing Glomerular Basement Membrane Defects in Alport Syndrome

(2013) X. Lin et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

TALEN-based Gene Correction for Epidermolysis Bullosa

(2013) Mark J Osborn et al.   MOLECULAR THERAPY

Collagen VI regulates satellite cell self-renewal and muscle regeneration

(2013) Anna Urciuolo et al.   Nature Communications

Antisense-Induced Messenger Depletion Corrects a COL6A2 Dominant Mutation in Ullrich Myopathy

(2012) Francesca Gualandi et al.   HUMAN GENE THERAPY

siRNA-Mediated Allele-Specific Inhibition of Mutant Type VII Collagen in Dominant Dystrophic Epidermolysis Bullosa

(2012) Valérie Pendaries et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Injection of Amniotic Fluid Stem Cells Delays Progression of Renal Fibrosis

(2012) S. Sedrakyan et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Tumor suppression by collagen XV is independent of the restin domain

(2012) Michael J. Mutolo et al.   MATRIX BIOLOGY

A Peptide Derived from Endostatin Ameliorates Organ Fibrosis

(2012) Y. Yamaguchi et al.   Science Translational Medicine

Drosophila type XV/XVIII collagen, Mp, is involved in Wingless distribution

(2011) Ryusuke Momota et al.   MATRIX BIOLOGY

Drosophila basement membrane collagen col4a1 mutations cause severe myopathy

(2011) Ildikó Kelemen-Valkony et al.   MATRIX BIOLOGY

Efficacy and safety of losartan in children with Alport syndrome--results from a subgroup analysis of a prospective, randomized, placebo- or amlodipine-controlled trial

(2011) N. J. A. Webb et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Collagen XV Is Necessary for Modeling of the Extracellular Matrix and Its Deficiency Predisposes to Cardiomyopathy

(2010) Karolina Rasi et al.   CIRCULATION RESEARCH

Zebrafish models of collagen VI-related myopathies

(2010) W.R. Telfer et al.   HUMAN MOLECULAR GENETICS

Functional Correction of Type VII Collagen Expression in Dystrophic Epidermolysis Bullosa

(2010) Eva M. Murauer et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Lack of Collagen XV Impairs Peripheral Nerve Maturation and, When Combined with Laminin-411 Deficiency, Leads to Basement Membrane Abnormalities and Sensorimotor Dysfunction

(2010) K. Rasi et al.   JOURNAL OF NEUROSCIENCE

Lack of Collagen XVIII/Endostatin Exacerbates Immune-Mediated Glomerulonephritis

(2010) Y. Hamano et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Zebrafish type XVII collagen: Gene structures, expression profiles, and morpholino “knock-down” phenotypes

(2010) Seong Hyun Kim et al.   MATRIX BIOLOGY

Autophagy is defective in collagen VI muscular dystrophies and its reactivation rescues myofiber degeneration

(2010) Paolo Grumati et al.   NATURE MEDICINE

Forty-two novelCOL7A1mutations and the role of a frequent single nucleotide polymorphism in theMMP1promoter in modulation of disease severity in a large European dystrophic epidermolysis bullosa cohort

(2009) J.S. Kern et al.   BRITISH JOURNAL OF DERMATOLOGY

The cyclophilin inhibitor Debio 025 normalizes mitochondrial function, muscle apoptosis and ultrastructural defects inCol6a1−/−myopathic mice

(2009) T Tiepolo et al.   BRITISH JOURNAL OF PHARMACOLOGY

Endostatin induces autophagy in endothelial cells by modulating Beclin 1 and β-catenin levels

(2009) Tri Minh Bui Nguyen et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

Collagen XV, a novel factor in zebrafish notochord differentiation and muscle development

(2008) Aurélie Pagnon-Minot et al.   DEVELOPMENTAL BIOLOGY

A hypomorphic mouse model of dystrophic epidermolysis bullosa reveals mechanisms of disease and response to fibroblast therapy

(2008) Anja Fritsch et al.   JOURNAL OF CLINICAL INVESTIGATION

Injection of Recombinant Human Type VII Collagen Corrects the Disease Phenotype in a Murine Model of Dystrophic Epidermolysis Bullosa

(2008) Jennifer Remington et al.   MOLECULAR THERAPY

A Cryptic Frizzled Module in Cell Surface Collagen 18 Inhibits Wnt/β−Catenin Signaling

(2008) Delphine Quélard et al.   PLoS One

Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies

(2008) Luciano Merlini et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A frequent functional SNP in theMMP1promoter is associated with higher disease severity in recessive dystrophic epidermolysis bullosa

(2007) Matthias Titeux et al.   HUMAN MUTATION