Functional analysis of retinitis pigmentosa 2 (RP2) protein reveals variable pathogenic potential of disease-associated missense variants

Functional analysis of retinitis pigmentosa 2 (RP2) protein reveals variable pathogenic potential of disease-associated missense variants

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http://www.wikidata.org/entity/Q33954839
A complex of BBS1 and NPHP7 is required for cilia motility in zebrafishLoss of retinitis pigmentosa 2 (RP2) protein affects cone photoreceptor sensory cilium elongation in miceAblation of the X-linked retinitis pigmentosa 2 (Rp2) gene in mice results in opsin mislocalization and photoreceptor degenerationMistrafficking of prenylated proteins causes retinitis pigmentosa 2.Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosaWhole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease geneUsing induced pluripotent stem cells to understand retinal ciliopathy disease mechanisms and develop therapiesThe Nme gene family in fish.Non-syndromic retinal ciliopathies: translating gene discovery into therapy.Pathogenic mutations in retinitis pigmentosa 2 predominantly result in loss of RP2 protein stability in humans and zebrafish.X-Linked Retinitis Pigmentosa 2 Is a Novel Maternal-Effect Gene Required for Left-Right Asymmetry in Zebrafish.Knockout of RP2 decreases GRK1 and rod transducin subunits and leads to photoreceptor degeneration in zebrafish.
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Functional analysis of retinitis pigmentosa 2 (RP2) protein reveals variable pathogenic potential of disease-associated missense variants

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http://www.wikidata.org/entity/Q33954839
description
2011 nî lūn-bûn
@nan
2011 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի հունիսին 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
Functional analysis of retinit ...... e-associated missense variants
@ast
Functional analysis of retinit ...... e-associated missense variants
@en
type
label
Functional analysis of retinit ...... e-associated missense variants
@ast
Functional analysis of retinit ...... e-associated missense variants
@en
prefLabel
Functional analysis of retinit ...... e-associated missense variants
@ast
Functional analysis of retinit ...... e-associated missense variants
@en
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Functional analysis of retinit ...... e-associated missense variants
@en
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P356
10.1371/JOURNAL.PONE.0021379
P407
P433
P478
P50
P577
P5875
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P932