A frequent functional SNP in the MMP1 promoter is associated with higher disease severity in recessive dystrophic epidermolysis bullosa

No abstract is available for this paper.

• Publication year

  2008

• Venue

  Human Mutation

• Publication date

  2008-02-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1002/humu.20647PMID 18030675
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Epidermolysis Bullosa

  2007influential reference
• Expanding the COL7A1 mutation database: novel and recurrent mutations and unusual genotype-phenotype constellations in 41 patients with dystrophic epidermolysis bullosa.

  2006cited by this paper
• Epidermolysis bullosa. II. Type VII collagen mutations and phenotype–genotype correlations in the dystrophic subtypes

  2006influential reference
• A functional SNP in the promoter of the SERPINH1 gene increases risk of preterm premature rupture of membranes in African Americans

  2006cited by this paper
• Recessive dystrophic epidermolysis bullosa: Case of non‐Hallopeau–Siemens variant with premature termination codons in both alleles

  2006cited by this paper
• A single nucleotide polymorphism in the matrix metalloproteinase-1 promoter enhances oral squamous cell carcinoma susceptibility in a Chinese population.

  2006cited by this paper
• Genotype-phenotype correlation in recessive dystrophic epidermolysis bullosa: when missense doesn't make sense.

  2005cited by this paper
• Prognostic significance of MMP-1 and MMP-3 functional promoter polymorphisms in colorectal cancer.

  2005cited by this paper
• Association of a single nucleotide polymorphism in the matrix metalloproteinase‐1 promoter with glioblastoma

  2005cited by this paper
• Collagenases in cancer.

  2005cited by this paper
• Association of a haplotype of matrix metalloproteinase (MMP)-1 and MMP-3 polymorphisms with renal cell carcinoma.

  2004cited by this paper
• Expression of collagenase and stromelysin in skin fibroblasts from recessive dystrophic epidermolysis bullosa

  2004cited by this paper
• Regulation of matrix metalloproteinases: An overview

  2003influential reference
• A relationship between Matrix metalloproteinase-1 (MMP-1) promoter polymorphism and cervical cancer progression.

  2003cited by this paper
• Fra-1 targets the AP-1 site/2G single nucleotide polymorphism (ETS site) in the MMP-1 promoter.

  2003influential reference
• Skin expression of metalloproteinases and tissue inhibitor of metalloproteinases in sibling patients with recessive dystrophic epidermolysis and intrafamilial phenotypic variation.

  2003cited by this paper
• Retinoic acid receptors interfere with the TGF-β/Smad signaling pathway in a ligand-specific manner

  2003cited by this paper
• The Comparative Role of Activator Protein 1 and Smad Factors in the Regulation of Timp-1 and MMP-1 Gene Expression by Transforming Growth Factor-β1*

  2003cited by this paper
• The comparative role of activator protein 1 and Smad factors in the regulation of Timp-1 and MMP-1 gene expression by transforming growth factor-beta 1.

  2003cited by this paper
• Overexpression of extracellular matrix metalloproteinase inducer in multidrug resistant cancer cells.

  2003cited by this paper
• Genotype-phenotype correlation in italian patients with dystrophic epidermolysis bullosa.

  2002cited by this paper
• Strategies for MMP inhibition in cancer: innovations for the post-trial era

  2002cited by this paper
• New functions for the matrix metalloproteinases in cancer progression

  2002cited by this paper
• Matrix metalloproteinase-1 promoter polymorphism 1G/2G is correlated with colorectal cancer invasiveness.

  2001cited by this paper
• Smad3/AP-1 interactions control transcriptional responses to TGF-β in a promoter-specific manner

  2001cited by this paper
• Loss of heterozygosity on chromosome 11q22-23 in melanoma is associated with retention of the insertion polymorphism in the matrix metalloproteinase-1 promoter.

  2001cited by this paper
• Invasiveness of cutaneous malignant melanoma is influenced by matrix metalloproteinase 1 gene polymorphism.

  2001cited by this paper
• Rapid genotype analysis of the matrix metalloproteinase-1 gene 1G/2G polymorphism that is associated with risk of cancer.

  2000cited by this paper
• Revised classification system for inherited epidermolysis bullosa: Report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa.

  2000cited by this paper
• Regulation of Ets function by protein–protein interactions

  2000cited by this paper
• Inherited epidermolysis bullosa comes into the new millenium: a revised classification system based on current knowledge of pathogenetic mechanisms and the clinical, laboratory, and epidemiologic findings of large, well-defined patient cohorts.

  2000cited by this paper
• A single nucleotide polymorphism in the matrix metalloproteinase-1 promoter creates an Ets binding site and augments transcription.

  1998cited by this paper
• Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation.

  1997influential reference
• Synergistic Transcriptional Activation of the Tissue Inhibitor of Metalloproteinases-1 Promoter via Functional Interaction of AP-1 and Ets-1 Transcription Factors (*)

  1996influential reference
• Human keratinocytes express EMMPRIN, an extracellular matrix metalloproteinase inducer.

  1996cited by this paper
• Molecular basis of recessive dystrophic epidermolysis bullosa: genotype/phenotype correlation in a case of moderate clinical severity.

  1996cited by this paper
• Erg, an Ets-family member, differentially regulates human collagenase1 (MMP1) and stromelysin1 (MMP3) gene expression by physically interacting with the Fos/Jun complex.

  1996cited by this paper
• Differential cytokine regulation of type I and type VII collagen gene expression in cultured human dermal fibroblasts.

  1994cited by this paper
• Constitutive activation of the collagenase promoter in recessive dystrophic epidermolysis bullosa fibroblasts: role of endogenously activated AP-1.

  1994cited by this paper
• Lack of efficacy of phenytoin in recessive dystrophic epidermolysis bullosa. Epidermolysis Bullosa Study Group.

  1992cited by this paper
• Exclusion of stromelysin-1, stromelysin-2, interstitial collagenase and fibronectin genes as the mutant loci in a family with recessive epidermolysis bullosa dystrophica and a form of cerebellar ataxia

  1992cited by this paper
• Inhibition of autoproteolytic activation of interstitial procollagenase by recombinant metalloproteinase inhibitor MI/TIMP-2.

  1991influential reference
• Exclusion of linkage between the collagenase gene and generalized recessive dystrophic epidermolysis bullosa phenotype.

  1991cited by this paper
• Cleavage of type VII collagen by interstitial collagenase and type IV collagenase (gelatinase) derived from human skin.

  1989cited by this paper
• Studies on two siblings with recessive dystrophic epidermolysis bullosa (Hallopeau-Siemens) and the plasminogen activator and its inhibitor in the lesion.

  1989cited by this paper
• Normal keratinization in a spontaneously immortalized aneuploid human keratinocyte cell line

  1988cited by this paper
• Recessive dystrophic epidermolysis bullosa.

  1987cited by this paper
• Human fibroblast collagenase. Complete primary structure and homology to an oncogene transformation-induced rat protein.

  1986influential reference
• Human skin collagenase in recessive dystrophic epidermolysis bullosa. Purification of a mutant enzyme from fibroblast cultures.

  1982cited by this paper
• Recessive dystrophic epidermolysis bullosa. Evidence for increased collagenase as a genetic characteristic in cell culture

  1978cited by this paper
• THE ESTIMATION AND SIGNIFICANCE OF THE LOGARITHM OF A RATIO OF FREQUENCIES

  1956influential reference

• Genotype-Phenotype Correlations in Recessive Dystrophic Epidermolysis Bullosa: A Systematic Review.

  2026cites this paper
• Dystrophic Epidermolysis Bullosa - from biochemistry to interventions.

  2025cites this paper
• HMCN1 variants aggravate epidermolysis bullosa simplex phenotype

  2025cites this paper
• Epidermolysis bullosa simplex: genotype-phenotype correlations

  2025cites this paper
• Antiviral drugs prolong survival in murine recessive dystrophic epidermolysis bullosa

  2024cites this paper
• Histone deacetylase inhibition mitigates fibrosis-driven disease progression in recessive dystrophic epidermolysis bullosa.

  2024cites this paper
• Functional Genotype-Phenotype Associations in Recessive Dystrophic Epidermolysis Bullosa.

  2024cites this paper
• Gamma-secretase inhibitors down-regulate the pro-fibrotic Notch signaling pathway in recessive dystrophic epidermolysis bullosa.

  2024cites this paper
• Molecular-based phenotype variations in amelogenesis imperfecta.

  2023cites this paper
• Dystonin modifiers of junctional epidermolysis bullosa and models of epidermolysis bullosa simplex without dystonia musculorum

  2023cites this paper
• Dystrophic epidermolysis bullosa: genotype-phenotype correlations

  2023cites this paper
• Seven naturally variant loci serve as genetic modifiers of Lamc2jeb induced non-Herlitz junctional Epidermolysis Bullosa in mice

  2023influential citation
• Collagen VII maintains proteostasis in dermal fibroblasts by scaffolding TANGO1 cargo

  2022cites this paper
• Bi‐allelic null variant in matrix metalloproteinase‐15, causes congenital cardiac defect, cholestasis jaundice, and failure to thrive

  2022cites this paper
• Stairways to Advanced Therapies for Epidermolysis Bullosa.

  2022cites this paper
• Mechanistic interrogation of mutation-independent disease modulators of RDEB identifies the small leucine-rich proteoglycan PRELP as a TGF-β antagonist and inhibitor of fibrosis.

  2022cites this paper
• Impaired Wound Healing, Fibrosis, and Cancer: The Paradigm of Recessive Dystrophic Epidermolysis Bullosa

  2021cites this paper
• Digenic Mutations in Junctional Epidermolysis Bullosa in An Iranian Family

  2021cites this paper
• Dystrophic Epidermolysis Bullosa: Secondary Disease Mechanisms and Disease Modifiers

  2021cites this paper
• Signatures of Dermal Fibroblasts from RDEB Pediatric Patients

  2021cites this paper
• Epigenetic and metabolic regulation of epidermal homeostasis

  2021cites this paper
• Next‐generation sequencing through multigene panel testing for the diagnosis of hereditary epidermolysis bullosa in Chinese population

  2020cites this paper
• Molecular Therapeutics in Development for Epidermolysis Bullosa: Update 2020

  2020cites this paper
• Proteolysis and oxidation of therapeutic proteins after intradermal or subcutaneous administration.

  2020cites this paper
• Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility

  2020cites this paper
• Two novel SNPs in genes involved in immune response and their association with mandibular residual ridge resorption

  2020cites this paper
• Transplantation of autologous single hair units heals chronic wounds in autosomal recessive dystrophic epidermolysis bullosa: A proof-of-concept study.

  2020cites this paper
• MicroRNA‐145‐5p regulates fibrotic features of recessive dystrophic epidermolysis bullosa skin fibroblasts

  2019cites this paper
• Genetic and inflammatory factors associated with psoriatic arthritis: Relevance to diagnosis and management.

  2019cites this paper
• Underlying molecular genetic defects of the Dystrophic Epidermolysis Bullosa Diseases in Hail, Saudi Arabia and literature review

  2019cites this paper
• Effect of MALAT1 Polymorphisms on Papillary Thyroid Cancer in a Chinese Population

  2019cites this paper
• A novel mutation of COL7A1 in a Chinese DEB‐Pt family and review of the literature

  2019cites this paper
• Basement membrane collagens and disease mechanisms

  2019cites this paper
• Unraveling the ECM-Immune Cell Crosstalk in Skin Diseases

  2019cites this paper
• FRT—Fondation Rene Touraine

  2018cites this paper
• Genotype-Phenotype Correlations of Dystrophic Epidermolysis Bullosa in India: Experience from a Tertiary Care Centre.

  2018cites this paper
• From Structure to Phenotype: Impact of Collagen Alterations on Human Health

  2018cites this paper
• Refining genotype-phenotype correlation in epidermolysis bullosa

  2017influential citation
• University of Dundee Lysyl hydroxylase 3 localizes to epidermal basement membrane and Is reduced in patients with Recessive Dystrophic Epidermolysis

  2017cites this paper
• A Review of 52 Pedigrees with Epidermolysis Bullosa Simplex Identifying Ten Novel Mutations in KRT5 and KRT14 in Australia.

  2017cites this paper
• Molecular therapies for inherited epidermolysis bullosa.

  2016cites this paper
• Association of gene polymorphisms of matrix metalloproteinases with reproductive losses in the first trimester of pregnancy

  2016cites this paper
• Marked intrafamilial phenotypic heterogeneity in dystrophic epidermolysis bullosa caused by inheritance of a mild dominant glycine substitution and a novel deep intronic recessive COL7A1 mutation

  2016cites this paper
• Oral epigallocatechin-3-gallate for treatment of dystrophic epidermolysis bullosa: a multicentre, randomized, crossover, double-blind, placebo-controlled clinical trial

  2016cites this paper
• Variations of SOST mRNA expression in human bone are associated with DNA polymorphism and DNA methylation in the SOST gene.

  2016cites this paper
• A COL7A1 variant leading to in‐frame skipping of exon 15 attenuates disease severity in recessive dystrophic epidermolysis bullosa

  2015cites this paper
• Lysyl Hydroxylase 3 Localizes to Epidermal Basement Membrane and Is Reduced in Patients with Recessive Dystrophic Epidermolysis Bullosa

  2015cites this paper
• Therapies for inherited skin fragility disorders

  2015cites this paper
• Identification of Two Homozygous Sequence Variants in the COL7A1 Gene Underlying Dystrophic Epidermolysis Bullosa by Whole‐Exome Analysis in a Consanguineous Family

  2015influential citation
• Prenatal Diagnosis of Epidermolysis Bullosa: Current Aspects and Perspectives

  2015cites this paper
• Integrins A6 and B4 and Their Role in Junctional Epidermolysis Bullosa and Recessive Epidermolysis Bullosa Simplex

  2015cites this paper
• The life course development of non-cognitive skills and health inequalities

  2015influential citation
• An investigation into the MMP1 gene promoter region polymorphism – 1607 2G with recessive dystrophic epidermolysis bullosa disease severity in northeastern Mexican patients

  2014cites this paper
• Proteases and proteomics: Cutting to the core of human skin pathologies

  2014cites this paper
• Disorders of the cutaneous basement membrane zone--the paradigm of epidermolysis bullosa.

  2014cites this paper
• What's in a disease name?

  2014cites this paper
• Monozygotic twins discordant for recessive dystrophic epidermolysis bullosa phenotype highlight the role of TGF-β signalling in modifying disease severity.

  2014cites this paper
• Gene therapy: pursuing restoration of dermal adhesion in recessive dystrophic epidermolysis bullosa

  2014cites this paper
• Molecular Identification of Collagen 17a1 as a Major Genetic Modifier of Laminin Gamma 2 Mutation-Induced Junctional Epidermolysis Bullosa in Mice

  2014cites this paper
• The genetics of skin fragility.

  2014cites this paper
• Expression of extracellular matrix metalloproteinase inducer glycosylation and caveolin-1 in healthy and inflamed human gingiva.

  2014cites this paper
• Aplasia cutis congenita with dystrophic epidermolysis bullosa: clinical and mutational study

  2014cites this paper
• Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

  2013cites this paper
• Global remodelling of cellular microenvironment due to loss of collagen VII

  2013cites this paper
• Rat Model for Dominant Dystrophic Epidermolysis Bullosa: Glycine Substitution Reduces Collagen VII Stability and Shows Gene-Dosage Effect

  2013cites this paper
• Dystrophic epidermolysis bullosa : novel insights into the genotype-phenotype correlation and somatic mosaicism

  2013cites this paper
• Chapter 147 – Epidermolysis Bullosa

  2013cites this paper
• Understanding the role of ETS-mediated gene regulation in complex biological processes.

  2013cites this paper
• Molecular markers for progression of squamous cell carcinoma of the skin

  2012cites this paper
• An Incompletely Penetrant Col7a1 Mutation Causes Dystrophic Epidermolysis Bullosa And Epidermolysis Bullosa Pruriginosa

  2012cites this paper
• Recessive dystrophic epidermolysis bullosa: identification of a novel COL7A1 mutation of D44N.

  2012cites this paper
• An Incompletely Penetrant Novel Mutation in COL7A1 Causes Epidermolysis Bullosa Pruriginosa and Dominant Dystrophic Epidermolysis Bullosa Phenotypes in an Extended Kindred

  2012cites this paper
• Skin differences based on age and chronicity of ultraviolet exposure: results from a gene expression profiling study

  2012cites this paper
• 3 Genetic Predisposition to Cutaneous Squamous Cell Carcinoma

  2012cites this paper
• Digenic inheritance in epidermolysis bullosa simplex.

  2012cites this paper
• Clinical applications of non-antimicrobial tetracyclines in dermatology.

  2011cites this paper
• Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosa.

  2011cites this paper
• Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa

  2011cites this paper
• Epidermolysis bullosa

  2011cites this paper
• Genodermatoses: Inherited Diseases of the Skin

  2011cites this paper
• The international dystrophic epidermolysis bullosa patient registry: An online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations

  2011cites this paper
• Identification of OATP1B3 as a potential therapeutic target in Recessive Dystrophic Epidermolysis Bullosa Associated Squamous Cell Carcinoma

  2011cites this paper
• Genetic Predisposition to Cutaneous Squamous Cell Carcinoma

  2011cites this paper
• Ultrastructure and molecular pathogenesis of epidermolysis bullosa.

  2011cites this paper
• Skin barrier dysfunction in common genetic disorders

  2011cites this paper
• Inherited epidermolysis bullosa: recent basic and clinical advances

  2010cites this paper
• Matrix metalloproteinase‐7 activates heparin‐binding epidermal growth factor‐like growth factor in cutaneous squamous cell carcinoma

  2010cites this paper
• Human Fibroblasts Share Immunosuppressive Properties with Bone Marrow Mesenchymal Stem Cells

  2010cites this paper
• Identification of novel and known KRT5 and KRT14 mutations in 53 patients with epidermolysis bullosa simplex: correlation between genotype and phenotype

  2010cites this paper
• Understanding the pathogenesis of recessive dystrophic epidermolysis bullosa squamous cell carcinoma.

  2010cites this paper
• Epidermolysis bullosa in France: management in the National Reference Center for Genodermatosis.

  2010cites this paper
• Basement membranes in development and disease.

  2010cites this paper
• Immune reactivity to type VII collagen: implications for gene therapy of recessive dystrophic epidermolysis bullosa

  2010cites this paper
• Mutational survey of recessive dystrophic epidermolysis bullosa in Tunisian families unveils a spectrum of private, ethnic specific and world wide recurrent mutations.

  2010cites this paper
• Homozygosity for a null allele of COL3A1 results in recessive Ehlers–Danlos syndrome

  2009cites this paper
• Increased invasive behaviour in cutaneous squamous cell carcinoma with loss of basement-membrane type VII collagen

  2009cites this paper
• Dystrophic epidermolysis bullosa phenotypes in a large consanguineous Tunisian family.

  2009cites this paper
• Evaluation of MMP1 and MMP3 gene polymorphisms in exfoliation syndrome and exfoliation glaucoma

  2009cites this paper
• New glycine substitution mutations in type VII collagen underlying epidermolysis bullosa pruriginosa but the phenotype is not explained by a common polymorphism in the matrix metalloproteinase-1 gene promoter.

  2009cites this paper
• Cytokines as genetic modifiers in K5–/– mice and in human epidermolysis bullosa simplex

  2009cites this paper