about
FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathiesStructural basis for Arl3-specific release of myristoylated ciliary cargo from UNC119.OCRL localizes to the primary cilium: a new role for cilia in Lowe syndromeHuman basal body basicsCilia/Ift protein and motor -related bone diseases and mouse modelsCharacterization of tetratricopeptide repeat-containing proteins critical for cilia formation and functionPDE6δ-mediated sorting of INPP5E into the cilium is determined by cargo-carrier affinityPTEN regulates cilia through Dishevelled.Fuz mutant mice reveal shared mechanisms between ciliopathies and FGF-related syndromesThree-dimensional architecture of the rod sensory cilium and its disruption in retinal neurodegenerationCiliopathy-associated gene Cc2d2a promotes assembly of subdistal appendages on the mother centriole during cilia biogenesisMutations in mouse Ift144 model the craniofacial, limb and rib defects in skeletal ciliopathiesCauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling Jeune syndromeA mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-GolgiCentrosomal protein CP110 controls maturation of the mother centriole during cilia biogenesisExome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvementShort-rib polydactyly and Jeune syndromes are caused by mutations in WDR60Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes.Cluap1 is essential for ciliogenesis and photoreceptor maintenance in the vertebrate eye.Loss of Raf-1 kinase inhibitory protein delays early-onset severe retinal ciliopathy in Cep290rd16 mouse.Reduced ciliary polycystin-2 in induced pluripotent stem cells from polycystic kidney disease patients with PKD1 mutationsThe golden era of ocular disease gene discovery: race to the finish.Compensatory Role of Inositol 5-Phosphatase INPP5B to OCRL in Primary Cilia Formation in Oculocerebrorenal Syndrome of Lowe.Clinical characteristics and current therapies for inherited retinal degenerationsRationale, design and objectives of ARegPKD, a European ARPKD registry studyIFT46 plays an essential role in cilia developmentNotch activity modulates the responsiveness of neural progenitors to sonic hedgehog signalingDevelopmental disruptions underlying brain abnormalities in ciliopathies.Katanin p80 regulates human cortical development by limiting centriole and cilia number.Whole organism transcriptome analysis of zebrafish models of Bardet-Biedl Syndrome and Alström Syndrome provides mechanistic insight into shared and divergent phenotypes.Formation of the transition zone by Mks5/Rpgrip1L establishes a ciliary zone of exclusion (CIZE) that compartmentalises ciliary signalling proteins and controls PIP2 ciliary abundanceFunction-driven discovery of disease genes in zebrafish using an integrated genomics big data resource.Analysis of human samples reveals impaired SHH-dependent cerebellar development in Joubert syndrome/Meckel syndrome.Senior-Løken syndrome: a syndromic form of retinal dystrophy associated with nephronophthisis.Genetic background of nonmutant Piebald-Virol-Glaxo rats does not influence nephronophthisis phenotypes.Mutations in TMEM231 cause Meckel-Gruber syndrome.A Smoothened-Evc2 complex transduces the Hedgehog signal at primary cilia.Current insights into renal ciliopathies: what can genetics teach us?Directed differentiation of pluripotent stem cells to kidney cells.Gated entry into the ciliary compartment.
P2860
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P2860
description
2011 nî lūn-bûn
@nan
2011 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Modeling human disease in humans: the ciliopathies.
@ast
Modeling human disease in humans: the ciliopathies.
@en
type
label
Modeling human disease in humans: the ciliopathies.
@ast
Modeling human disease in humans: the ciliopathies.
@en
prefLabel
Modeling human disease in humans: the ciliopathies.
@ast
Modeling human disease in humans: the ciliopathies.
@en
P2860
P1433
P1476
Modeling human disease in humans: the ciliopathies.
@en
P2093
Gaia Novarino
Naiara Akizu
P2860
P356
10.1016/J.CELL.2011.09.014
P407
P577
2011-09-01T00:00:00Z