Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome.
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Somatic mosaic activating mutations in PIK3CA cause CLOVES syndromeParallelism and Epistasis in Skeletal Evolution Identified through Use of Phylogenomic Mapping StrategiesStructural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan SyndromeEfficient mapping and cloning of mutations in zebrafish by low-coverage whole-genome sequencing.Presphenoidal synchondrosis fusion in DBA/2J mice.Prioritization of neurodevelopmental disease genes by discovery of new mutations.Ptpn11 deletion in a novel progenitor causes metachondromatosis by inducing hedgehog signalling.Unique mutation portraits and frequent COL2A1 gene alteration in chondrosarcoma.SHP2 positively regulates TGFβ1-induced epithelial-mesenchymal transition modulated by its novel interacting protein Hook1.Common somatic alterations identified in maffucci syndrome by molecular karyotypingSHP2 regulates chondrocyte terminal differentiation, growth plate architecture and skeletal cell fatesA somatic MAP3K3 mutation is associated with verrucous venous malformationRecurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxityFGFR3 Deficiency Causes Multiple Chondroma-like Lesions by Upregulating Hedgehog Signaling.ERK1 and ERK2 regulate chondrocyte terminal differentiation during endochondral bone formationSomatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndromeDeletion of SHP-2 in mesenchymal stem cells causes growth retardation, limb and chest deformity, and calvarial defects in mice.Metachondromatosis: more than just multiple osteochondromas.From an orphan disease to a generalized molecular mechanism: PTPN11 loss-of-function mutations in the pathogenesis of metachondromatosisShp2 Inhibits Proliferation of Esophageal Squamous Cell Cancer via Dephosphorylation of Stat3Enchondromatosis revisited: new classification with molecular basis.Genetic alterations of protein tyrosine phosphatases in human cancers.Targeting protein tyrosine phosphatase SHP2 for therapeutic intervention.The current state of clinical interpretation of sequence variants.Targeted disruption of Shp2 in chondrocytes leads to metachondromatosis with multiple cartilaginous protrusionsOsteochondroma and Spinal Cord Compression in a Patient With Hereditary Multiple Exostoses: A Case Report.SHP2 Regulates the Osteogenic Fate of Growth Plate Hypertrophic ChondrocytesCell biology: tumour stem cells in bone.Ptpn11 Deletion in CD4+ Cells Does Not Affect T Cell Development and Functions but Causes Cartilage Tumors in a T Cell-Independent Manner.SHP2 regulates skeletal cell fate by modifying SOX9 expression and transcriptional activity.Multiple unexpected lesions of metachondromatosis detected by technetium-99m methylene diphosphonate SPECT/CT: A case report.
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P2860
Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome.
description
2011 nî lūn-bûn
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2011 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Loss-of-function mutations in ...... disease or Maffucci syndrome.
@ast
Loss-of-function mutations in ...... disease or Maffucci syndrome.
@en
type
label
Loss-of-function mutations in ...... disease or Maffucci syndrome.
@ast
Loss-of-function mutations in ...... disease or Maffucci syndrome.
@en
prefLabel
Loss-of-function mutations in ...... disease or Maffucci syndrome.
@ast
Loss-of-function mutations in ...... disease or Maffucci syndrome.
@en
P2093
P2860
P50
P1433
P1476
Loss-of-function mutations in ...... disease or Maffucci syndrome.
@en
P2093
Akinori Sakai
Belinda Campos-Xavier
Bianca M Regazzoni
Caroline Pottinger
Elena Andreucci
Eric D Boyden
Harry P Kozakewich
James R Kasser
Jon G Seidman
Kyle C Kurek
P2860
P304
P356
10.1371/JOURNAL.PGEN.1002050
P50
P577
2011-04-14T00:00:00Z