Trafficking defects and loss of ligand binding are the underlying causes of all reported DDR2 missense mutations found in SMED-SL patients
about
Discoidin domain receptors promote α1β1- and α2β1-integrin mediated cell adhesion to collagen by enhancing integrin activationCollagen binding specificity of the discoidin domain receptors: binding sites on collagens II and III and molecular determinants for collagen IV recognition by DDR1Structure of the Discoidin Domain Receptor 1 Extracellular Region Bound to an Inhibitory Fab Fragment Reveals Features Important for SignalingMutations in the DDR2 kinase gene identify a novel therapeutic target in squamous cell lung cancer.Delineation of the clinical, molecular and cellular aspects of novel JAM3 mutations underlying the autosomal recessive hemorrhagic destruction of the brain, subependymal calcification, and congenital cataractsA novel mutation in DDR2 causing spondylo-meta-epiphyseal dysplasia with short limbs and abnormal calcifications (SMED-SL) results in defective intra-cellular trafficking.Discoidin domain receptors in disease.Discoidin domain receptor functions in physiological and pathological conditions.Normal activation of discoidin domain receptor 1 mutants with disulfide cross-links, insertions, or deletions in the extracellular juxtamembrane region: mechanistic implicationsCollagen induces activation of DDR1 through lateral dimer association and phosphorylation between dimersEndoplasmic reticulum quality control is involved in the mechanism of endoglin-mediated hereditary haemorrhagic telangiectasia.Canine chondrodysplasia caused by a truncating mutation in collagen-binding integrin alpha subunit 10.Collagen recognition and transmembrane signalling by discoidin domain receptorsOn the role of electrostatics in protein-protein interactions.Discoidin domain receptor tyrosine kinases: new players in cancer progressionNew therapeutic targets in rare genetic skeletal diseases.A molecular classification of human mesenchymal stromal cells.Discoipyrroles A-D: isolation, structure determination, and synthesis of potent migration inhibitors from Bacillus hunanensis.Rare mutations in non-small-cell lung cancer.Prenatal diagnosis of proximal partial trisomy 1q confirmed by comparative genomic hybridization array: molecular cytogenetic analysis, fetal pathology and review of the literature.Defective Ca(2+) binding in a conserved binding site causes incomplete N-glycan processing and endoplasmic reticulum trapping of discoidin domain receptors.Low stability and a conserved N-glycosylation site are associated with regulation of the discoidin domain receptor family by glucose via post-translational N-glycosylation.Assessment of DDR2, BRAF, EGFR and KRAS mutations as therapeutic targets in non-adenocarcinoma lung cancer patients.Discoidin domain receptor 2 (DDR2) regulates body size and fat metabolism in mice.Retention in the endoplasmic reticulum is the underlying mechanism of some hereditary haemorrhagic telangiectasia type 2 ALK1 missense mutations.Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates.Spondyloepimetaphyseal dysplasia, short limb-abnormal calcifications type: progressive radiological findings from fetal age to adolescence.Spatial localisation of Discoidin Domain Receptor 2 (DDR2) signalling is dependent on its collagen binding and kinase activity.Novel DDR2 mutation identified by whole exome sequencing in a Moroccan patient with spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type.Incorporation of DDR2 clusters into collagen matrix via integrin-dependent posterior remnant tethering.
P2860
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P2860
Trafficking defects and loss of ligand binding are the underlying causes of all reported DDR2 missense mutations found in SMED-SL patients
description
2010 nî lūn-bûn
@nan
2010 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի մարտին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Trafficking defects and loss o ...... ions found in SMED-SL patients
@ast
Trafficking defects and loss o ...... ions found in SMED-SL patients
@en
type
label
Trafficking defects and loss o ...... ions found in SMED-SL patients
@ast
Trafficking defects and loss o ...... ions found in SMED-SL patients
@en
prefLabel
Trafficking defects and loss o ...... ions found in SMED-SL patients
@ast
Trafficking defects and loss o ...... ions found in SMED-SL patients
@en
P2093
P2860
P50
P356
P1476
Trafficking defects and loss o ...... ions found in SMED-SL patients
@en
P2093
Birgit Leitinger
Huifang Xu
Nadia A Akawi
Ruth Langer
P2860
P304
P356
10.1093/HMG/DDQ103
P577
2010-03-10T00:00:00Z