CEP290 alleles in mice disrupt tissue-specific cilia biogenesis and recapitulate features of syndromic ciliopathies
about
MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition ZoneCentrosomal protein CP110 controls maturation of the mother centriole during cilia biogenesisSHG-specificity of cellular Rootletin filaments enables naïve imaging with universal conservation.The Ciliary Transition Zone: Finding the Pieces and Assembling the Gate.Loss of Mpdz impairs ependymal cell integrity leading to perinatal-onset hydrocephalus in mice.Loss of MACF1 Abolishes Ciliogenesis and Disrupts Apicobasal Polarity Establishment in the Retina.Using induced pluripotent stem cells to understand retinal ciliopathy disease mechanisms and develop therapiesA missense mutation in Katnal1 underlies behavioural, neurological and ciliary anomalies.Gene Therapy Using a miniCEP290 Fragment Delays Photoreceptor Degeneration in a Mouse Model of Leber Congenital Amaurosis.Increased vulnerability of photoreceptors to aberrant splicing highlight the utility of AON-based therapy for CEP290-LCA.In Vitro Modeling Using Ciliopathy-Patient-Derived Cells Reveals Distinct Cilia Dysfunctions Caused by CEP290 Mutations.Ciliopathy-associated IQCB1/NPHP5 protein is required for mouse photoreceptor outer segment formation.Murine Cep290 phenotypes are modified by genetic backgrounds and provide an impetus for investigating disease modifier alleles.Primary cilia proteins: ciliary and extraciliary sites and functions.A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies.Assaying sensory ciliopathies using calcium biosensor expression in zebrafish ciliated olfactory neurons.Cell type-specific regulation of ciliary transition zone assembly in vertebrates.Strain-specific differences in brain gene expression in a hydrocephalic mouse model with motile cilia dysfunction
P2860
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P2860
CEP290 alleles in mice disrupt tissue-specific cilia biogenesis and recapitulate features of syndromic ciliopathies
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2015 nî lūn-bûn
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2015 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2015年の論文
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2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
name
CEP290 alleles in mice disrupt ...... ures of syndromic ciliopathies
@ast
CEP290 alleles in mice disrupt ...... ures of syndromic ciliopathies
@en
CEP290 alleles in mice disrupt ...... ures of syndromic ciliopathies
@nl
type
label
CEP290 alleles in mice disrupt ...... ures of syndromic ciliopathies
@ast
CEP290 alleles in mice disrupt ...... ures of syndromic ciliopathies
@en
CEP290 alleles in mice disrupt ...... ures of syndromic ciliopathies
@nl
prefLabel
CEP290 alleles in mice disrupt ...... ures of syndromic ciliopathies
@ast
CEP290 alleles in mice disrupt ...... ures of syndromic ciliopathies
@en
CEP290 alleles in mice disrupt ...... ures of syndromic ciliopathies
@nl
P2093
P2860
P50
P356
P1476
CEP290 alleles in mice disrupt ...... ures of syndromic ciliopathies
@en
P2093
Alice N Hackett
Erin A Yamamoto
Helen L May-Simera
Jeeva Munasinghe
Katherine Pohida
Lijin Dong
Mrinal K Dewanjee
Norimoto Gotoh
Rivka A Rachel
Yuri V Sergeev
P2860
P304
P356
10.1093/HMG/DDV123
P407
P577
2015-07-01T00:00:00Z