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Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial DysostosisMutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndromeHSP47 and FKBP65 cooperate in the synthesis of type I procollagen.TGFβ and BMP Dependent Cell Fate Changes Due to Loss of Filamin B Produces Disc Degeneration and Progressive Vertebral Fusions.The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery.Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome.Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia.Holmgren's principle of delamination during fin skeletogenesis.Fibroblast growth factor and canonical WNT/β-catenin signaling cooperate in suppression of chondrocyte differentiation in experimental models of FGFR signaling in cartilage.An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome.Correction: Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis.Collagen duplicate genes of bone and cartilage participate during regeneration of zebrafish fin skeleton.Ray-interray interactions during fin regeneration of Danio rerio.A Chaperone Complex Formed by HSP47, FKBP65, and BiP Modulates Telopeptide Lysyl Hydroxylation of Type I Procollagen.Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.Position dependence of hemiray morphogenesis during tail fin regeneration in Danio rerio.Corrigendum: The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery.Regulation of ciliary function by fibroblast growth factor signaling identifies FGFR3-related disorders achondroplasia and thanatophoric dysplasia as ciliopathies.Freeze substitution followed by low melting point wax embedding preserves histomorphology and allows protein and mRNA localization techniquesFibroblast growth factor receptor influences primary cilium length through an interaction with intestinal cell kinaseNRP1 haploinsufficiency predisposes to the development of Tetralogy of FallotThe PTH/PTHrP-SIK3 pathway affects skeletogenesis through altered mTOR signalingDominant-negative SOX9 mutations in campomelic dysplasiaThe α2 chain of type IX collagen is essential for type IX collagen biosynthesis
P50
Q28595827-55807A4B-0363-4AFE-B2C0-9ECE7339314FQ29147434-3CE34C11-4F5A-47F8-B2FB-7E0E90083A02Q35163465-DF1FF1D1-AFF7-4A45-A2B7-2C718F692EE6Q35971562-0AF9DEC7-E525-4E84-9257-E82D4FF7426FQ37161998-608BCC0E-87C0-439F-83C7-F8BC96CED7A4Q37281697-0275D445-9B48-47E7-8F14-2C12201B76FCQ37747558-3426177C-394D-4ABB-BEB2-66837D2660B5Q38280531-B3CF75BE-2C58-4EFA-95DA-43F52B8CEDB7Q38923283-8E118265-9A14-4B81-BE68-D3484D71075DQ39552140-563F5BCD-41A8-424E-827B-53350D55BC38Q42355466-10DC3E2C-ED71-47A1-B777-52B5B55B38BBQ44133398-2BE5BE2A-E824-4ECF-AEA0-CA430B853C73Q44249654-D7706047-AD4C-407D-9A06-3693C897C78DQ44575911-FE6E9F70-E134-4FE0-BEA1-7EB90CF775A4Q46609776-FCC8B08D-80BB-4B07-AFC8-897787FE0CC2Q46918897-2E83F116-601D-4CF7-8CDF-9D134A6A28A6Q51613173-E2E0308D-D970-4882-AFB1-40E83C11EE3BQ54984935-385C79D2-6936-4DF5-82E7-2EDF4A92E855Q61581374-FF7ADB0C-C8DF-4216-8F41-84FDD62CF15FQ63976764-F519022F-A1BF-490B-8A18-34D70AEDD176Q87601370-DDE6CF86-83E4-4424-836F-BE5332F12076Q91554218-4BCDBDA8-B131-4A16-9323-8E052AB9AE24Q92467258-10AAB3F1-F79D-45AF-B4D7-64F648E135F5Q92508346-3D0FE917-1552-4025-8285-8FB9C4DEA130
P50
description
hulumtues
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Ivan Duran
@ast
Ivan Duran
@en
Ivan Duran
@es
Ivan Duran
@nl
Ivan Duran
@sl
type
label
Ivan Duran
@ast
Ivan Duran
@en
Ivan Duran
@es
Ivan Duran
@nl
Ivan Duran
@sl
prefLabel
Ivan Duran
@ast
Ivan Duran
@en
Ivan Duran
@es
Ivan Duran
@nl
Ivan Duran
@sl
P108
P1053
M-3185-2016
P106
P1153
7005607022
P21
P31
P3829
P496
0000-0001-6097-0402