MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO) - Wikidata - thesis-toulmin - TriplyDB

MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO)

MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO)

http://www.wikidata.org/entity/Q24324139

about

A human laterality disorder caused by a homozygous deleterious mutation in MMP21 Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism.Matrix metalloproteinases and the regulation of tissue remodelling Progress in matrix metalloproteinase research.The recognition of collagen and triple-helical toolkit peptides by MMP-13: sequence specificity for binding and cleavage Matrix metalloproteinase-13 is required for osteocytic perilacunar remodeling and maintains bone fracture resistance.Targeting matrix metalloproteases to improve cutaneous wound healing.Matrix metalloproteinases in lung: multiple, multifarious, and multifaceted.Multiple myeloma-derived MMP-13 mediates osteoclast fusogenesis and osteolytic disease Dyggve-Melchior-Clausen syndrome: chondrodysplasia resulting from defects in intracellular vesicle traffic.Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia Altered endochondral bone development in matrix metalloproteinase 13-deficient mice.Involvement of angiopoietin-like 4 in matrix remodeling during chondrogenic differentiation of mesenchymal stem cells.Current and emerging therapeutic strategies for preventing inflammation and aggrecanase-mediated cartilage destruction in arthritis.Matrix metalloproteinase collagenolysis in health and disease.MMP-13 is one of the critical mediators of the effect of HDAC4 deletion on the skeleton.Exome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia.Parafibromin is a nuclear protein with a functional monopartite nuclear localization signal.Functional characterization of selective exosite-binding inhibitors of matrix metalloproteinase-13 (MMP-13) - experimental validation in human breast and colon cancer.A novel homozygous MMP2 mutation in a patient with Torg-Winchester syndrome.Differential regulation of MMPs and matrix assembly in chicken and turkey growth-plate chondrocytes.Matrix metalloproteinase-13 promotes recovery from experimental liver cirrhosis in rats.MMP13mutations are the cause of recessive metaphyseal dysplasia, Spahr type Matrix Proteases and the Degradome A mouse model for spondyloepiphyseal dysplasia congenita with secondary osteoarthritis due to aCol2a1mutation

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MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO)

http://www.wikidata.org/entity/Q24324139

description

2005 nî lūn-bûn

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2005 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

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2005 թվականի հոտեմբերին հրատարակված գիտական հոդված

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2005年の論文

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2005年論文

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2005年論文

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2005年論文

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2005年論文

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2005年論文

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2005年论文

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name

MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO)

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MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO)

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MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO)

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MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO)

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MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO)

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MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO)

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MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO)

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MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO)

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MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO)

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MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO)

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MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO)

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MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO)

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Journal of Clinical Investigation

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MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO)

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Andrew Dearlove

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Anita A C Reed

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Ann M Kennedy

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Anna A J Pannett

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Brian Harding

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Claire Hartley

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Luis M Sánchez

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M Andrew Nesbit

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Masaki Inada

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Michael H Byrne

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P2860

Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse

Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda

Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type

Biochemical characterization of human collagenase-3

Localization of familial benign hypercalcemia, Oklahoma variant (FBHOk), to chromosome 19q13

A new locus for autosomal dominant "pure" hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneity

The cysteine switch: a principle of regulation of metalloproteinase activity with potential applicability to the entire matrix metalloproteinase gene family

Cloning, expression, and type II collagenolytic activity of matrix metalloproteinase-13 from human osteoarthritic cartilage

SWISS-MODEL: An automated protein homology-modeling server

Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD

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2832-2842

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scholarly article

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10.1172/JCI22900

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10

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P478

115

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Carlos López Otín

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2005-10-01T00:00:00Z

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16167086

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bone morphogenesis

spondyloepimetaphyseal dysplasia, Missouri type

Matrix metallopeptidase 13

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1201660

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