Identification of photoreceptor genes affected by PRPF31 mutations associated with autosomal dominant retinitis pigmentosa.
about
RNA and diseaseAlternative splicing and retinal degenerationMutant Prpf31 causes pre-mRNA splicing defects and rod photoreceptor cell degeneration in a zebrafish model for Retinitis pigmentosa.Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay.Hypoxia-regulated components of the U4/U6.U5 tri-small nuclear riboprotein complex: possible role in autosomal dominant retinitis pigmentosaTargeted RP9 ablation and mutagenesis in mouse photoreceptor cells by CRISPR-Cas9.The roles of fascins in health and disease.Splicing factor mutations and cancer.Assembly of the U5 snRNP component PRPF8 is controlled by the HSP90/R2TP chaperones.Disease mechanism for retinitis pigmentosa (RP11) caused by missense mutations in the splicing factor gene PRPF31.The splicing factor Prp31 is essential for photoreceptor development in Drosophila.Functional consequences of PRPF39 on distant genes and cisplatin sensitivity.
P2860
Q29615183-9D98F7F7-A6CA-45AA-ADFD-4A70F8B07D24Q34102442-E3F557D8-15E9-4DCA-B0DD-7F4B4A33C906Q35172047-2F067487-70AC-4E21-8ECE-C99CA7C9C86EQ36487292-79EAFB3D-D5E1-48CD-B007-564084AFD9EAQ36489201-CB9C934E-A9C8-47FA-AA5B-0FD13392DC93Q37652350-CF914E89-CEDE-4E9C-84A6-8288C71C806CQ37880684-1E578CA2-D853-4C31-9C21-9E29E77D9D43Q38187632-6C5BE972-10FC-4185-87AE-399264DB6C94Q38780090-EDBEAC23-B481-4DB2-B1C0-D2A1D8646188Q39989257-566005B2-4365-458B-933D-E4D556123877Q42762291-B91FBDBE-1C63-4196-A87B-8FFD95D6D11EQ43072148-F962E7DA-59C8-4DE6-B515-133EAD3132BE
P2860
Identification of photoreceptor genes affected by PRPF31 mutations associated with autosomal dominant retinitis pigmentosa.
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年学术文章
@wuu
2007年学术文章
@zh-cn
2007年学术文章
@zh-hans
2007年学术文章
@zh-my
2007年学术文章
@zh-sg
2007年學術文章
@yue
2007年學術文章
@zh
2007年學術文章
@zh-hant
name
Identification of photorecepto ...... dominant retinitis pigmentosa.
@en
type
label
Identification of photorecepto ...... dominant retinitis pigmentosa.
@en
prefLabel
Identification of photorecepto ...... dominant retinitis pigmentosa.
@en
P2093
P2860
P1476
Identification of photorecepto ...... dominant retinitis pigmentosa.
@en
P2093
Daniel Mordes
Mariko Kawada
Robert S Molday
P2860
P304
P356
10.1016/J.NBD.2006.08.026
P577
2007-03-09T00:00:00Z