Achondroplasia is defined by recurrent G380R mutations of FGFR3
about
The ups and downs of mutation frequencies during aging can account for the Apert syndrome paternal age effectMutation analysis of LMX1B gene in nail-patella syndrome patientsClinical and genetic heterogeneity of hypochondroplasiaDe novo mutations in ATP1A3 cause alternating hemiplegia of childhoodAssociation between IRF6 and nonsyndromic cleft lip with or without cleft palate in four populationsHigh throughput SNP and expression analyses of candidate genes for non-syndromic oral cleftsPaternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndromeSixteen years and counting: the current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasiasPaternal age effect mutations and selfish spermatogonial selection: causes and consequences for human diseaseConstitutive receptor activation by Crouzon syndrome mutations in fibroblast growth factor receptor (FGFR)2 and FGFR2/Neu chimerasConstitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasiaProfound ligand-independent kinase activation of fibroblast growth factor receptor 3 by the activation loop mutation responsible for a lethal skeletal dysplasia, thanatophoric dysplasia type IIAnalysis of phenotypic features and FGFR2 mutations in Apert syndrome.Rapid Detection of Rare Deleterious Variants by Next Generation Sequencing with Optional Microarray SNP Genotype Data.Analysis of cancer mutation signatures in blood by a novel ultra-sensitive assay: monitoring of therapy or recurrence in non-metastatic breast cancerA recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans.Differential parental transmission of markers in RUNX2 among cleft case-parent trios from four populations.Association between genes on chromosome 4p16 and non-syndromic oral clefts in four populationsDifferential parental transmission of markers in BCL3 among Korean cleft case-parent triosFGFR3 induces degradation of BMP type I receptor to regulate skeletal development.Heparan sulfate-dependent signaling of fibroblast growth factor 18 by chondrocyte-derived perlecan.Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromesEvidence that TGFA influences risk to cleft lip with/without cleft palate through unconventional genetic mechanisms.Phenotype profile of a genetic mouse model for Muenke syndrome.Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype.Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspotsEvidence of gene-environment interaction for the IRF6 gene and maternal multivitamin supplementation in controlling the risk of cleft lip with/without cleft palate.The observed human sperm mutation frequency cannot explain the achondroplasia paternal age effect.A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 geneA novel FGFR3-binding peptide inhibits FGFR3 signaling and reverses the lethal phenotype of mice mimicking human thanatophoric dysplasia.Molecular, phenotypic aspects and therapeutic horizons of rare genetic bone disorders.Non-invasive prenatal detection of achondroplasia using circulating fetal DNA in maternal plasmaGenomic analysis of metastatic cutaneous squamous cell carcinoma.A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.Fine mapping of the nail-patella syndrome locus at 9q34Parent-of-origin effects in SOX2 anophthalmia syndromeRole of FGF/FGFR signaling in skeletal development and homeostasis: learning from mouse models.Physeal growth arrest after tibial lengthening in achondroplasia: 23 children followed to skeletal maturity.ROR2 gene is associated with risk of non-syndromic cleft palate in an Asian populationReceptor tyrosine kinase mutations in developmental syndromes and cancer: two sides of the same coin
P2860
Q21563340-8A5992AA-B0E4-48B0-9907-A399292FF256Q22008462-FB91C596-2EB6-4B62-A0D0-CBE7073A7FD6Q24517916-19713586-CDBF-4824-BA7A-88C943623041Q24600468-F6A6F2E8-23D1-46F1-831F-7495A38CAA27Q24611145-1C03628B-2924-4C25-AC4B-9C1CE59B2706Q24654980-8E00AA5D-B692-44CD-AE6B-5A9CB119B07BQ28138231-ACA17BB1-E6BA-4DDD-812B-F084213BCE52Q28252023-31329624-B433-4894-9BFC-C3C6B1BDA2DDQ28259472-FD05EA3D-758F-40C9-8C05-19A1172D7705Q28609649-CDF32C73-EA2D-48CE-A3CF-D4F82BC30854Q28640044-E13A26DA-34CE-4DA6-8A1C-B4BEEC70CE02Q28678804-9E897300-1E48-4C5D-8F97-0752EEF4F204Q30445325-9164C8F9-6964-4418-B703-0195CF02DB87Q30964089-48F67DC0-3FC8-4D03-A8E1-4C4AEE27BE10Q33507538-7C62F2DE-3D28-4EB4-AF78-BC8FD467C4B4Q33677764-1D9EE721-F860-407F-B48F-ED543589D27DQ33740394-7470B3E9-CF5E-467C-A4A9-5AE042A24017Q33869329-A0EDCF41-E4DA-4627-8B8E-2D2F56A3EA9BQ33902556-7A9AFBA4-FF98-48B3-9E5D-FA3D15CA6B25Q33951282-A5977943-AC8D-47D0-AAF2-9A2C7594002FQ33975294-234830B2-A49C-4FB0-BBA6-94F5F279D9ADQ33979110-B28956B9-A7C0-4B52-846A-94E64EEF43EBQ33982925-7FB66DF9-CED7-4242-A508-A466B66AE26DQ34041540-F937932D-D9F7-48E4-905A-05530D469E8BQ34144279-B008D554-16A3-453A-A697-747DC4F450ECQ34146268-6ABB47C3-3874-43A5-A594-EBD09C92F6E8Q34207327-6DCF3214-58B6-46BD-B8B3-26F08A1D20C2Q34380582-7100ACF4-BF8C-42C0-B778-2D6F79563D15Q34389067-C210F68D-222A-4B86-BB0C-E31AEB026CB8Q34422075-CEDA57AD-5DA9-499D-9A55-20C8DA46CC13Q34502398-B42E39A0-BBE1-49A8-AB65-35EDFE9664D8Q34688588-DBC9692B-39CA-480A-9129-3DA363933538Q35178368-3FD61604-56FD-476B-8CD6-65BB55D6C7F3Q35238921-0F0F75CC-4957-4FBF-9BAA-E30DF2DB0711Q35239250-1B9AE9E7-C2B2-475C-B24C-4A1A667ADE3AQ35608003-67BBFCAB-CF37-4D65-8F79-6DCE458FF485Q35755137-317CD5CF-FF32-491A-82BC-5BB45FBAF41AQ36013635-4A03DF15-0376-450F-A0C8-AAD37EA38790Q36062872-4856DFEE-8428-4D3A-ACB5-F43D8FFB3F99Q36065321-3A322F81-D57B-4C30-A0C7-2E35BF99E3F6
P2860
Achondroplasia is defined by recurrent G380R mutations of FGFR3
description
1995 nî lūn-bûn
@nan
1995 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
name
Achondroplasia is defined by recurrent G380R mutations of FGFR3
@ast
Achondroplasia is defined by recurrent G380R mutations of FGFR3
@en
Achondroplasia is defined by recurrent G380R mutations of FGFR3
@nl
type
label
Achondroplasia is defined by recurrent G380R mutations of FGFR3
@ast
Achondroplasia is defined by recurrent G380R mutations of FGFR3
@en
Achondroplasia is defined by recurrent G380R mutations of FGFR3
@nl
prefLabel
Achondroplasia is defined by recurrent G380R mutations of FGFR3
@ast
Achondroplasia is defined by recurrent G380R mutations of FGFR3
@en
Achondroplasia is defined by recurrent G380R mutations of FGFR3
@nl
P2093
P2860
P1476
Achondroplasia is defined by recurrent G380R mutations of FGFR3
@en
P2093
C A Francomano
I McIntosh
R I Ortiz de Luna
T W Hefferon
W A Horton
P2860
P304
P407
P50
P577
1995-02-01T00:00:00Z