Physical basis behind achondroplasia, the most common form of human dwarfism.
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Fibroblast growth factor receptor signaling in hereditary and neoplastic disease: biologic and clinical implicationsTransmembrane helix dimerization: beyond the search for sequence motifsMultiple consequences of a single amino acid pathogenic RTK mutation: the A391E mutation in FGFR3Effect of the G375C and G346E achondroplasia mutations on FGFR3 activation.Pathogenic Cysteine Removal Mutations in FGFR Extracellular Domains Stabilize Receptor Dimers and Perturb the TM Dimer Structure.FGFR3 induces degradation of BMP type I receptor to regulate skeletal development.High-throughput selection of transmembrane sequences that enhance receptor tyrosine kinase activationDirect assessment of the effect of the Gly380Arg achondroplasia mutation on FGFR3 dimerization using quantitative imaging FRET.FGFR3 heterodimerization in achondroplasia, the most common form of human dwarfism.Analytical characterization of plasma membrane-derived vesicles produced via osmotic and chemical vesiculation.FGFR3 transmembrane domain interactions persist in the presence of its extracellular domain.New evidence for positive selection helps explain the paternal age effect observed in achondroplasiaPhysical-chemical principles underlying RTK activation, and their implications for human disease.The physical basis of FGFR3 response to fgf1 and fgf2.Effect of the achondroplasia mutation on FGFR3 dimerization and FGFR3 structural response to fgf1 and fgf2: A quantitative FRET study in osmotically derived plasma membrane vesicles.Identification and in silico characterization of p.G380R substitution in FGFR3, associated with achondroplasia in a non-consanguineous Pakistani family.FGFR3 unliganded dimer stabilization by the juxtamembrane domain.Mechanism of FGF receptor dimerization and activation.The A391E mutation enhances FGFR3 activation in the absence of ligand.Crouzon syndrome and Bent bone dysplasia associated with mutations at the same Tyr-381 residue in FGFR2 gene.Achondroplasia with multiple-suture craniosynostosis: a report of a new case of this rare association
P2860
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P2860
Physical basis behind achondroplasia, the most common form of human dwarfism.
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2010 nî lūn-bûn
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2010 թուականի Յուլիսին հրատարակուած գիտական յօդուած
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2010 թվականի հուլիսին հրատարակված գիտական հոդված
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2010年の論文
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2010年論文
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2010年論文
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2010年論文
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2010年論文
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2010年論文
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2010年论文
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Physical basis behind achondroplasia, the most common form of human dwarfism.
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Physical basis behind achondroplasia, the most common form of human dwarfism.
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Physical basis behind achondroplasia, the most common form of human dwarfism.
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Physical basis behind achondroplasia, the most common form of human dwarfism.
@ast
Physical basis behind achondroplasia, the most common form of human dwarfism.
@en
Physical basis behind achondroplasia, the most common form of human dwarfism.
@nl
prefLabel
Physical basis behind achondroplasia, the most common form of human dwarfism.
@ast
Physical basis behind achondroplasia, the most common form of human dwarfism.
@en
Physical basis behind achondroplasia, the most common form of human dwarfism.
@nl
P2860
P356
P1476
Physical basis behind achondroplasia, the most common form of human dwarfism.
@en
P2093
William Horton
P2860
P304
30103-30114
P356
10.1074/JBC.M109.094086
P407
P577
2010-07-12T00:00:00Z