Identification of a PRPF4 loss-of-function variant that abrogates U4/U6.U5 tri-snRNP integration and is associated with retinitis pigmentosa
about
Retinal dystrophies, genomic applications in diagnosis and prospects for therapyMutations in spliceosomal proteins and retina degenerationEFTUD2 deficiency in vertebrates: Identification of a novel human mutation and generation of a zebrafish model.mRNA metabolism and neuronal disease.RNA mis-splicing in disease.Variant haploinsufficiency and phenotypic non-penetrance in PRPF31-associated retinitis pigmentosa.Assembly of the U5 snRNP component PRPF8 is controlled by the HSP90/R2TP chaperones.Tip110 binding to U6 small nuclear RNA and its participation in pre-mRNA splicing.The spliceosomal proteins PPIH and PRPF4 exhibit bi-partite binding.Variant snRNPs: New players within the spliceosome system.
P2860
Q26770321-147144C5-B60D-4AD1-BD93-C192C8E7EE28Q33739682-16D399DA-594A-43F5-910F-A0E0B99D2416Q35805964-F5A690E1-C323-440D-8040-B042E418A018Q38469185-F2A71291-068D-4CA6-B69F-6FCF34BA8029Q38642996-DA9C76DB-0AC8-4C32-A4E9-C7151A922800Q38725572-05962B95-FDD4-4153-AED1-A38E13BD16FBQ38780090-CCA1DE93-EFB6-4089-9522-CAAF02E04C79Q41093951-362C0952-4AEE-43D0-95DB-E2EAA087844AQ43208870-87069B71-9AB9-44D5-BF82-4EAC26F5C4D3Q49393183-F7DBD871-529F-42EB-B9D5-5F5530D1129F
P2860
Identification of a PRPF4 loss-of-function variant that abrogates U4/U6.U5 tri-snRNP integration and is associated with retinitis pigmentosa
description
2014 nî lūn-bûn
@nan
2014 թուականին հրատարակուած գիտական յօդուած
@hyw
2014 թվականին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Identification of a PRPF4 loss ...... ated with retinitis pigmentosa
@ast
Identification of a PRPF4 loss ...... ated with retinitis pigmentosa
@en
Identification of a PRPF4 loss ...... ated with retinitis pigmentosa
@en-gb
Identification of a PRPF4 loss ...... ated with retinitis pigmentosa
@nl
type
label
Identification of a PRPF4 loss ...... ated with retinitis pigmentosa
@ast
Identification of a PRPF4 loss ...... ated with retinitis pigmentosa
@en
Identification of a PRPF4 loss ...... ated with retinitis pigmentosa
@en-gb
Identification of a PRPF4 loss ...... ated with retinitis pigmentosa
@nl
prefLabel
Identification of a PRPF4 loss ...... ated with retinitis pigmentosa
@ast
Identification of a PRPF4 loss ...... ated with retinitis pigmentosa
@en
Identification of a PRPF4 loss ...... ated with retinitis pigmentosa
@en-gb
Identification of a PRPF4 loss ...... ated with retinitis pigmentosa
@nl
P2093
P2860
P1433
P1476
Identification of a PRPF4 loss ...... ated with retinitis pigmentosa
@en
P2093
Andreas Gal
Anja Hirmer
Bastian Linder
Bernhard Laggerbauer
Christoph Winkler
Klaus Rüther
P2860
P304
P356
10.1371/JOURNAL.PONE.0111754
P407
P577
2014-01-01T00:00:00Z