A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies
about
TCTN3 mutations cause Mohr-Majewski syndromeTMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zoneCandidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathyIndividuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathyMutation of POC1B in a severe syndromic retinal ciliopathyCEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the ciliumEvolutionarily assembled cis-regulatory module at a human ciliopathy locusCombining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesisTOPORS, implicated in retinal degeneration, is a cilia-centrosomal proteinOCRL localizes to the primary cilium: a new role for cilia in Lowe syndromeThe role of RPGR in cilia formation and actin stabilityPitchfork regulates primary cilia disassembly and left-right asymmetryGene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy modelCC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlationNext generation sequencing technology and genomewide data analysis: Perspectives for retinal researchZebrafish: a vertebrate tool for studying basal body biogenesis, structure, and functionThe role of primary cilia in the development and disease of the retinaScrutinizing ciliopathies by unraveling ciliary interaction networksCEP290 alleles in mice disrupt tissue-specific cilia biogenesis and recapitulate features of syndromic ciliopathiesDNAH6 and Its Interactions with PCD Genes in Heterotaxy and Primary Ciliary DyskinesiaTyro3 Modulates Mertk-Associated Retinal DegenerationMouse models of ciliopathies: the state of the art.MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesisA transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition.The Role of RPGR and Its Interacting Proteins in CiliopathiesNephronophthisis and related syndromesMultiprotein complexes of Retinitis Pigmentosa GTPase regulator (RPGR), a ciliary protein mutated in X-linked Retinitis Pigmentosa (XLRP).Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degenerationAHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisisDishevelled stabilization by the ciliopathy protein Rpgrip1l is essential for planar cell polarityComplex interactions between genes controlling trafficking in primary ciliaIn vivo Modeling Implicates APOL1 in Nephropathy: Evidence for Dominant Negative Effects and Epistasis under Anemic StressMutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvementTCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.Pervasive sharing of genetic effects in autoimmune disease.Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathyClinical and molecular features of Joubert syndrome and related disorders.Genetic architecture of retinal and macular degenerative diseases: the promise and challenges of next-generation sequencing.Widespread expression of the Supv3L1 mitochondrial RNA helicase in the mouse.Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome
P2860
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P2860
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies
description
2009 nî lūn-bûn
@nan
2009 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies
@ast
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies
@en
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies
@en-gb
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies
@nl
type
label
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies
@ast
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies
@en
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies
@en-gb
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies
@nl
prefLabel
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies
@ast
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies
@en
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies
@en-gb
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies
@nl
P2093
P2860
P50
P3181
P356
P1433
P1476
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies
@en
P2093
Anna Diaz-Font
Anneke I den Hollander
Carlos A Murga-Zamalloa
Carsten Bergmann
Cecilia Maubaret
Christina F Chakarova
Colin A Johnson
David A Wheeler
Donna M Muzny
Erica E Davis
P2860
P2888
P304
P3181
P356
10.1038/NG.366
P407
P50
P5530
P577
2009-06-01T00:00:00Z
P5875
P6179
1053591273