An Ift80 mouse model of short rib polydactyly syndromes shows defects in hedgehog signalling without loss or malformation of cilia
about
Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney DiseaseThe role of primary cilia in the development and disease of the retinaCilia/Ift protein and motor -related bone diseases and mouse modelsHow do cilia organize signalling cascades?Scrutinizing ciliopathies by unraveling ciliary interaction networksMouse models of ciliopathies: the state of the art.Architecture and function of IFT complex proteins in ciliogenesisBardet-Biedl syndrome proteins control the cilia length through regulation of actin polymerizationThe intraflagellar transport protein IFT80 is required for cilia formation and osteogenesisIFT80 is essential for chondrocyte differentiation by regulating Hedgehog and Wnt signaling pathwaysA mutation in the mouse ttc26 gene leads to impaired hedgehog signalingExome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvementMutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophyMammalian Clusterin associated protein 1 is an evolutionarily conserved protein required for ciliogenesis.Control of vertebrate intraflagellar transport by the planar cell polarity effector FuzFunction and regulation of primary cilia and intraflagellar transport proteins in the skeletonDeletion of IFT80 Impairs Epiphyseal and Articular Cartilage Formation Due to Disruption of Chondrocyte Differentiation.Developmental disruptions underlying brain abnormalities in ciliopathies.Whole-Genome Sequencing to Identify Mutants and Polymorphisms in Chlamydomonas reinhardtii.Dynamics of microRNAs in bull spermatozoa.Cilia, Wnt signaling, and the cytoskeletonCiliary IFT80 balances canonical versus non-canonical hedgehog signalling for osteoblast differentiationA novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndromePrimary cilia and kidney injury: current research status and future perspectivesA role for the Golgi matrix protein giantin in ciliogenesis through control of the localization of dynein-2.Keeping the balance between proliferation and differentiation: the primary ciliumCiliary disorder of the skeleton.Primary ciliary dyskinesia: recent advances in epidemiology, diagnosis, management and relationship with the expanding spectrum of ciliopathy.Primary cilia and graded Sonic Hedgehog signaling.Developmental signaling: does it bridge the gap between cilia dysfunction and renal cystogenesis?The mouse transcription factor-like 5 gene encodes a protein localized in the manchette and centriole of the elongating spermatid.Primary Cilia and Intraflagellar Transport Proteins in Bone and Cartilage.Developmental Regulation of the Growth Plate and Cranial Synchondrosis.The Intraflagellar Transport Machinery.Motile and non-motile cilia in human pathology: from function to phenotypes.Primary Cilia and Mammalian Hedgehog Signaling.Intraflagellar transport proteins 172, 80, 57, 54, 38, and 20 form a stable tubulin-binding IFT-B2 complex.Loss of cilia causes embryonic lung hypoplasia, liver fibrosis, and cholestasis in the talpid3 ciliopathy mutant.Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies.Crystal structure of intraflagellar transport protein 80 reveals a homo-dimer required for ciliogenesis.
P2860
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P2860
An Ift80 mouse model of short rib polydactyly syndromes shows defects in hedgehog signalling without loss or malformation of cilia
description
2011 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2011
@ast
im April 2011 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2011/04/01)
@sk
vědecký článek publikovaný v roce 2011
@cs
wetenschappelijk artikel (gepubliceerd op 2011/04/01)
@nl
наукова стаття, опублікована у квітні 2011
@uk
مقالة علمية (نشرت في أبريل 2011)
@ar
name
An Ift80 mouse model of short ...... loss or malformation of cilia
@ast
An Ift80 mouse model of short ...... loss or malformation of cilia
@en
An Ift80 mouse model of short ...... loss or malformation of cilia
@nl
type
label
An Ift80 mouse model of short ...... loss or malformation of cilia
@ast
An Ift80 mouse model of short ...... loss or malformation of cilia
@en
An Ift80 mouse model of short ...... loss or malformation of cilia
@nl
prefLabel
An Ift80 mouse model of short ...... loss or malformation of cilia
@ast
An Ift80 mouse model of short ...... loss or malformation of cilia
@en
An Ift80 mouse model of short ...... loss or malformation of cilia
@nl
P2093
P2860
P3181
P356
P1476
An Ift80 mouse model of short ...... loss or malformation of cilia
@en
P2093
Amelie Calmont
Philip L Beales
Suzanne Rix
P2860
P304
P3181
P356
10.1093/HMG/DDR013
P577
2011-01-12T00:00:00Z