Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype.
about
A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndromeFibroblast growth factor signaling in skeletal development and diseaseA Molecular Brake in the Kinase Hinge Region Regulates the Activity of Receptor Tyrosine KinasesCracking the Molecular Origin of Intrinsic Tyrosine Kinase Activity through Analysis of Pathogenic Gain-of-Function MutationsStructural Mimicry of A-Loop Tyrosine Phosphorylation by a Pathogenic FGF Receptor 3 MutationSixteen years and counting: the current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasiasNovel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasiaPaternal age effect mutations and selfish spermatogonial selection: causes and consequences for human diseaseGenomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosisMultiple consequences of a single amino acid pathogenic RTK mutation: the A391E mutation in FGFR3Interaction of fibroblast growth factor receptor 3 and the adapter protein SH2-B. A role in STAT5 activationEffect of the G375C and G346E achondroplasia mutations on FGFR3 activation.Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumorsIs fibroblast growth factor receptor 4 a suitable target of cancer therapy?Fibroblast growth factor receptor 3-IIIc mediates colorectal cancer growth and migration.The localization of FGFR3 mutations causing thanatophoric dysplasia type I differentially affects phosphorylation, processing and ubiquitylation of the receptor.Activating somatic FGFR2 mutations in breast cancerMosaicism of activating FGFR3 mutations in human skin causes epidermal nevi.FGFs, their receptors, and human limb malformations: clinical and molecular correlations.Genes, growth factors and acanthosis nigricans.APOBEC family mutational signatures are associated with poor prognosis translocations in multiple myelomaReceptor tyrosine kinase mutations in developmental syndromes and cancer: two sides of the same coinNon-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach.Whole-exome sequencing and whole genome re-sequencing for prenatal diagnosis of achondroplasia.Hypochondroplasia in a child with 1620C>G (Asn540Lys) mutation in FGFR3.Molecular Analysis of a Case of Thanatophoric Dysplasia Reveals Two de novo FGFR3 Missense Mutations located in cis.Successful birth with preimplantation genetic diagnosis using single-cell allele-specific PCR and sequencing in a woman with hypochondroplasia due to FGFR3 mutation (c.1620C>A, p.N540K)Molecular determinants of tumor recurrence in the urinary bladder.Elucidation of a four-site allosteric network in fibroblast growth factor receptor tyrosine kinases.Prevalence of Mutations in the FGFR3 Gene in Individuals with Idiopathic Short Stature.Targeting mutant fibroblast growth factor receptors in cancer.Fibroblast growth factors and their receptors in cancer.Achondroplasia: Development, pathogenesis, and therapy.Landscape of activating cancer mutations in FGFR kinases and their differential responses to inhibitors in clinical use.Fibroblast growth factor receptor-induced phosphorylation of STAT1 at the Golgi apparatus without translocation to the nucleus.The kinase activity of fibroblast growth factor receptor 3 with activation loop mutations affects receptor trafficking and signaling.The phosphotyrosine phosphatase SHP2 is a critical mediator of transformation induced by the oncogenic fibroblast growth factor receptor 3.FGF receptors ubiquitylation: dependence on tyrosine kinase activity and role in downregulation.FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry.Acanthosis nigricans in a Japanese boy with hypochondroplasia due to a K650T mutation in FGFR3.
P2860
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P2860
Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype.
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2000 nî lūn-bûn
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name
Distinct missense mutations of ...... skeletal dysplasia phenotype.
@ast
Distinct missense mutations of ...... skeletal dysplasia phenotype.
@en
Distinct missense mutations of ...... skeletal dysplasia phenotype.
@nl
type
label
Distinct missense mutations of ...... skeletal dysplasia phenotype.
@ast
Distinct missense mutations of ...... skeletal dysplasia phenotype.
@en
Distinct missense mutations of ...... skeletal dysplasia phenotype.
@nl
prefLabel
Distinct missense mutations of ...... skeletal dysplasia phenotype.
@ast
Distinct missense mutations of ...... skeletal dysplasia phenotype.
@en
Distinct missense mutations of ...... skeletal dysplasia phenotype.
@nl
P2093
P2860
P356
P1476
Distinct missense mutations of ...... skeletal dysplasia phenotype.
@en
P2093
A T Garber
C A Francomano
C A Weaver
D J Donoghue
E B Spector
M K Webster
P W Speiser
S S Rosengren
P2860
P304
P356
10.1086/316892
P407
P50
P577
2000-10-27T00:00:00Z