about
The dynamic cilium in human diseasesJoubert Syndrome and related disordersThe retinitis pigmentosa protein RP2 links pericentriolar vesicle transport between the Golgi and the primary ciliumFAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathiesNephrocystins and MKS proteins interact with IFT particle and facilitate transport of selected ciliary cargosSpata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retinaNephronophthisisThe role of primary cilia in neuronal functionThe primary cilium as a cellular signaling center: lessons from diseaseMutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfectaThe role of primary cilia in the development and disease of the retinaPrimary cilia in the developing and mature brainSpectrum of clinical diseases caused by disorders of primary ciliaCEP290 alleles in mice disrupt tissue-specific cilia biogenesis and recapitulate features of syndromic ciliopathiesType 3 adenylyl cyclase: a key enzyme mediating the cAMP signaling in neuronal ciliaInteraction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degenerationThree-dimensional architecture of the rod sensory cilium and its disruption in retinal neurodegenerationOFD1, as a Ciliary Protein, Exhibits Neuroprotective Function in Photoreceptor Degeneration ModelsRetinal degeneration and failure of photoreceptor outer segment formation in mice with targeted deletion of the Joubert syndrome gene, Ahi1Autofluorescence and High-Resolution OCT Findings Revealed Ciliopathy in Senior-Loken SyndromeGenomics of mature and immature olfactory sensory neurons.Nasal ciliary beat frequency and beat pattern in retinal ciliopathies.The intraflagellar transport protein ift80 is essential for photoreceptor survival in a zebrafish model of jeune asphyxiating thoracic dystrophyIntrinsic bursting of AII amacrine cells underlies oscillations in the rd1 mouse retinaDeciphering the structure and function of Als2cr4 in the mouse retina.Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes.Ciliopathy proteins establish a bipartite signaling compartment in a C. elegans thermosensory neuronAccumulation of the Raf-1 kinase inhibitory protein (Rkip) is associated with Cep290-mediated photoreceptor degeneration in ciliopathies.Alström syndrome--an uncommon cause of early childhood retinal dystrophyCdc42 and sec10 Are Required for Normal Retinal Development in Zebrafish.Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290.Current understanding of usher syndrome type II.Neuronal ciliary signaling in homeostasis and disease.Bardet-Biedl syndrome.Photoreceptor sensory cilia and ciliopathies: focus on CEP290, RPGR and their interacting proteins.Cilia-Associated Genes Play Differing Roles in Aminoglycoside-Induced Hair Cell Death in Zebrafish.The Oak Ridge Polycystic Kidney mouse: modeling ciliopathies of mice and menThe primary cilium at the crossroads of mammalian hedgehog signalingCilia and ciliopathies: from Chlamydomonas and beyond.Molecular chaperones and photoreceptor function.
P2860
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P2860
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
2007年论文
@zh
2007年论文
@zh-cn
name
The retinal ciliopathies.
@en
type
label
The retinal ciliopathies.
@en
prefLabel
The retinal ciliopathies.
@en
P2860
P1433
P1476
The retinal ciliopathies
@en
P2093
Hassanain S Toma
P2860
P304
P356
10.1080/13816810701537424
P577
2007-09-01T00:00:00Z