Torg Syndrome Is Caused by Inactivating Mutations in MMP2 and Is Allelic to NAO and Winchester Syndrome

No abstract is available for this paper.

• Publication year

  2006

• Venue

  Journal of Bone and Mineral Research

• Publication date

  2006-10-23

• Fields of study

  Medicine

• Identifiers
  DOI 10.1359/jbmr.061013PMID 17059372
• 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.

• A novel homozygous MMP2 mutation in a family with Winchester syndrome

  2006cited by this paper
• Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2

  2005cited by this paper
• Matrilysin (MMP‐7) promotes invasion of ovarian cancer cells by activation of progelatinase

  2005cited by this paper
• Transforming Growth Factor-β1 Mutations in Camurati-Engelmann Disease Lead to Increased Signaling by Altering either Activation or Secretion of the Mutant Protein*

  2003cited by this paper
• International nosology and classification of constitutional disorders of bone (2001).

  2002cited by this paper
• Radiological findings in NAO syndrome

  2002cited by this paper
• Domain-specific mutations in TGFB1 result in camurati-engelmann disease

  2002cited by this paper
• [Torg osteolysis syndrome].

  2001cited by this paper
• Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome

  2001cited by this paper
• Inherited multicentric osteolysis with arthritis: a variant resembling Torg syndrome in a Saudi family.

  2000cited by this paper
• Osteocyte and osteoblast apoptosis and excessive bone deposition accompany failure of collagenase cleavage of collagen.

  2000cited by this paper
• Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease

  2000cited by this paper
• Cell surface-localized matrix metalloproteinase-9 proteolytically activates TGF-beta and promotes tumor invasion and angiogenesis.

  2000cited by this paper
• New form of idiopathic osteolysis: nodulosis, arthropathy and osteolysis (NAO) syndrome.

  2000cited by this paper
• Structure of human pro-matrix metalloproteinase-2: activation mechanism revealed.

  1999cited by this paper
• MT1-MMP-deficient mice develop dwarfism, osteopenia, arthritis, and connective tissue disease due to inadequate collagen turnover.

  1999influential reference
• Torg osteolysis syndrome.

  1998cited by this paper
• Unaltered Secretion of β-Amyloid Precursor Protein in Gelatinase A (Matrix Metalloproteinase 2)-deficient Mice*

  1997cited by this paper
• Winchester syndrome. A case report and literature review.

  1992cited by this paper
• The cysteine switch: a principle of regulation of metalloproteinase activity with potential applicability to the entire matrix metalloproteinase gene family.

  1990cited by this paper
• Winchester's syndrome.

  1989cited by this paper
• An interactive computer graphics study of thermolysin-catalyzed peptide cleavage and inhibition by N-carboxymethyl dipeptides.

  1984cited by this paper
• Hereditary multicentric osteolysis with recessive transmission: a new syndrome.

  1969cited by this paper
• A new acid mucopolysaccharidosis with skeletal deformities simulating rheumatoid arthritis.

  1969cited by this paper

• Vanishing Bones and Stubborn Joints: Unravelling the Enigma of Multicentric Osteolysis, Nodulosis, and Arthropathy Syndrome

  2025cites this paper
• A child with Winchester syndrome responding to oral betamethasone and methotrexate

  2024cites this paper
• A clinical and molecular characterization of a Pakistani family with multicentric osteolysis, nodulosis and arthropathy (MONA) syndrome

  2024cites this paper
• A novel entity of massive multifocal osteolyses in the elderly

  2024cites this paper
• Multicentric Osteolysis Nodulosis and Arthropathy (MONA): A Case Series and Review of the Literature

  2024cites this paper
• Clinical, radiographic and molecular characterization of two unrelated families with multicentric osteolysis, nodulosis, and arthropathy

  2023cites this paper
• Matrix metalloproteinases in arthritis: towards precision medicine

  2023cites this paper
• Multicentric Osteolysis Nodulosis Arthropathy Syndrome Simulating Juvenile Idiopathic Arthritis in an Adult Female: A Case Report and a Literature Review

  2023cites this paper
• Multicentric Carpotarsal Osteolysis: a Contemporary Perspective on the Unique Skeletal Phenotype

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

  2022cites this paper
• Taurodontism in dental genetics

  2021cites this paper
• Multicentric Osteolysis, Nodulosis, and Arthropathy in two unrelated children with matrix metalloproteinase 2 variants: Genetic-skeletal correlations

  2021influential citation
• Clinical Radiological and Molecular Profile of a Patient Affected With Multicentric Osteolysis Nodulosis and Arthropathy

  2021cites this paper
• MMP2 Gene

  2020cites this paper
• Multicentric Osteolysis, Nodulosis, and Arthropathy

  2020cites this paper
• What does acne genetics teach us about disease pathogenesis?

  2019cites this paper
• A novel mutation in the matrix metallopeptidase 2 coding gene associated with intrafamilial variability of multicentric osteolysis, nodulosis, and arthropathy

  2019cites this paper
• Multicentric osteolytic syndromes represent a phenotypic spectrum defined by defective collagen remodeling

  2019influential citation
• A novel matrix metalloproteinase-2 mutation in two Egyptian siblings with Winchester syndrome

  2019cites this paper
• Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype

  2018cites this paper
• Single nucleotide polymorphisms in the angiogenic and lymphangiogenic pathways are associated with lymphedema caused by Wuchereria bancrofti

  2017cites this paper
• MMP‐2: A modulator of neuronal precursor activity and cognitive and motor behaviors

  2017cites this paper
• A Pragmatic Study Shows Failure of Dental Composite Fillings Is Genetically Determined: A Contribution to the Discussion on Dental Amalgams

  2017cites this paper
• Oro-Dental Manifestations and Implications of the Osteolyses

  2017cites this paper
• Characterization of Normal Murine Carpal Bone Development Prompts Re-Evaluation of Pathologic Osteolysis as the Cause of Human Carpal-Tarsal Osteolysis Disorders.

  2017cites this paper
• Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathy

  2016influential citation
• Bisphosphonates in multicentric osteolysis, nodulosis and arthropathy (MONA) spectrum disorder – an alternative therapeutic approach

  2016cites this paper
• Metalloproteinases and their inhibitors in the pathophysiology of heritable connective tissue disorders: current evidence

  2016cites this paper
• Matrix Metalloproteinase-2 Negatively Regulates Cardiac Secreted Phospholipase A 2 to Modulate In fl ammation and Fever

  2015influential citation
• Response to: ‘Mutation in MMP2 gene may result in scleroderma-like skin thickening’ by Bader-Meunier et al

  2015cites this paper
• Matrix Metalloproteinase‐2 Negatively Regulates Cardiac Secreted Phospholipase A2 to Modulate Inflammation and Fever

  2015influential citation
• Regulatory mechanisms of anthrax toxin receptor 1-dependent vascular and connective tissue homeostasis

  2015cites this paper
• The ever-expanding conundrum of primary osteoporosis: aetiopathogenesis, diagnosis, and treatment

  2014cites this paper
• Patient with Mutation in the Matrix Metalloproteinase 2 (MMP2) Gene - A Case Report and Review of the Literature

  2014cites this paper
• The Fundamental Roles of the Tissue Inhibitor of Metalloproteinase Family in Mammalian Biology

  2014cites this paper
• A Rare Case: Radial Shaft Fracture Seen at Torg-Winchester Syndrome -

  2014cites this paper
• Functional characterisation of a novel mutation affecting the catalytic domain of MMP2 in siblings with multicentric osteolysis, nodulosis and arthropathy

  2014cites this paper
• Arthrogryposes (Multiple Congenital Contractures)

  2014cites this paper
• Chapter 161 - Arthrogryposes (Multiple Congenital Contractures)

  2013cites this paper
• Arthropathy, osteolysis, keloids, relapsing conjunctival pannus and gingival overgrowth: A variant of polyfibromatosis?

  2013cites this paper
• Chapter 103 – Oligosaccharidoses: Disorders Allied to the Oligosaccharidoses

  2013cites this paper
• The Torg-Winchester form of hereditary osteolysis: Orthopaedic manifestations and management

  2013cites this paper
• The identification of MAFB mutations in eight patients with multicentric carpo–tarsal osteolysis supports genetic homogeneity but clinical variability

  2013cites this paper
• Multicentric osteolysis with nodulosis and arthropathy (MONA) with cardiac malformation, mimicking polyarticular juvenile idiopathic arthritis: case report and literature review

  2013cites this paper
• Inherited Disorders of the Hair

  2013cites this paper
• Effects of alendronate on human osteoblast-like MG63 cells and matrix metalloproteinases.

  2012cites this paper
• Detection of gelatinolytic activity in developing basement membranes of the mouse embryo head by combining sensitive in situ zymography with immunolabeling

  2012cites this paper
• A report of three patients with MMP2 associated hereditary osteolysis.

  2012cites this paper
• Idiopathic multicentric osteolysis: upper extremity manifestations and surgical considerations during childhood.

  2012cites this paper
• Generation and Characterization of Knockout Mice and Analysis of Patient Material Demonstrates a Role for Tissue Inhibitor of Metalloproteinases 4 (Timp4) in the Cardiovascular System and Tumor Metastasis

  2012cites this paper
• Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB.

  2012cites this paper
• Physiological Functions of Membrane‐Type Metalloproteases

  2012cites this paper
• Pituitary Hormones and the Pathophysiology of Osteoporosis

  2012cites this paper
• Winchester syndrome: the progression of radiological findings over a 23-year period

  2011cites this paper
• Hereditary Disorders of the Dermis

  2011cites this paper
• Subcutaneous nodules, arthropathy, coarse face, cataract and glaucoma: a newly recognized syndrome.

  2011cites this paper
• Matrix metalloproteinases: evolution, gene regulation and functional analysis in mouse models.

  2010cites this paper
• Clinical and radiographic findings in two brothers affected with a novel mutation in matrix metalloproteinase 2 gene

  2010cites this paper
• A novel homozygous MMP2 mutation in a patient with Torg–Winchester syndrome

  2010cites this paper
• Matrix metalloproteinases.

  2010cites this paper
• Terminal osseous dysplasia with pigmentary defects (TODPD): Follow‐up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage region

  2010cites this paper
• AUTOCRINE AND PARACRINE EFFECTS OF MECHANICALLY REGULATED MATRIX METALLOPROTEASES IN HUMAN MESENCHYMAL STEM CELLS

  2009cites this paper
• Autocrine and paracrine effects of mechanically regulated matrix metalloproteases in human mesenchymal stem cells

  2009cites this paper
• A novel matrix metalloproteinase 2 (MMP2) terminal hemopexin domain mutation in a family with multicentric osteolysis with nodulosis and arthritis with cardiac defects

  2009cites this paper
• Bisphosphonate-induced osteonecrosis of the jaws, bone markers, and a hypothesized candidate gene.

  2009cites this paper
• Matrix metalloproteinases and bone.

  2008influential citation
• Selected Syndromes and Chromosomal Disorders

  2008cites this paper
• Absence of MMP2 Mutation in Idiopathic Multicentric Osteolysis with Nephropathy

  2007cites this paper
• Type I collagen is a genetic modifier of matrix metalloproteinase 2 in murine skeletal development

  2007cites this paper