PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa.
about
Identification of a PRPF4 loss-of-function variant that abrogates U4/U6.U5 tri-snRNP integration and is associated with retinitis pigmentosaRNA-binding proteins in eye development and disease: implication of conserved RNA granule componentsPrp8 retinitis pigmentosa mutants cause defects in the transition between the catalytic steps of splicing.Defective control of pre-messenger RNA splicing in human diseaseMutations in spliceosomal proteins and retina degenerationMutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosaA mutation in a splicing factor that causes retinitis pigmentosa has a transcriptome-wide effect on mRNA splicing.Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome.Biochemical defects in minor spliceosome function in the developmental disorder MOPD I.Alternative splicing and retinal degenerationDominant PRPF31 mutations are hypostatic to a recessive CNOT3 polymorphism in retinitis pigmentosa: a novel phenomenon of "linked trans-acting epistasis".A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosaIdentification of Novel Proteins Co-Purifying with Cockayne Syndrome Group B (CSB) Reveals Potential Roles for CSB in RNA Metabolism and Chromatin Dynamics.Modeling of autosomal-dominant retinitis pigmentosa in Caenorhabditis elegans uncovers a nexus between global impaired functioning of certain splicing factors and cell type-specific apoptosis.Sf3b4-depleted Xenopus embryos: A model to study the pathogenesis of craniofacial defects in Nager syndromeAutosomal dominant retinitis pigmentosa secondary to pre-mRNA splicing-factor gene PRPF31 (RP11): review of disease mechanism and report of a family with a novel 3-base pair insertion.Aberrant splicing in neurological diseases.Protein nanomachines assembly modes: cell-free expression and biochip perspectives.A day in the life of the spliceosomeA review of craniofacial disorders caused by spliceosomal defects.mRNA metabolism and neuronal disease.RNA mis-splicing in disease.Impact of Alternative Splicing on the Human Proteome.Assembly of the U5 snRNP component PRPF8 is controlled by the HSP90/R2TP chaperones.CNOT3 is a modifier of PRPF31 mutations in retinitis pigmentosa with incomplete penetrance.Changes in intranuclear mobility of mature snRNPs provide a mechanism for splicing defects in spinal muscular atrophy.Gene expression profiling identifies different sub-types of retinoblastoma.Regulation of constitutive and alternative mRNA splicing across the human transcriptome by PRPF8 is determined by 5' splice site strength.PRPF4 mutations cause autosomal dominant retinitis pigmentosa.Dysregulation of cotranscriptional alternative splicing underlies CHARGE syndrome.ALS Associated Mutations in Matrin 3 Alter Protein-Protein Interactions and Impede mRNA Nuclear Export.Variability in clinical phenotypes of PRPF8-linked autosomal dominant retinitis pigmentosa correlates with differential PRPF8/SNRNP200 interactions.Variants in the PRPF8 Gene are Associated with Glaucoma.Variant snRNPs: New players within the spliceosome system.Splicing regulation by long noncoding RNAs.Long-term clinical course of 2 Japanese patients with PRPF31-related retinitis pigmentosa.[Pre-mRNA splicing: when the spliceosome loses ground].Retinitis pigmentosa mutations of SNRNP200 enhance cryptic splice-site recognition.The Role of scaRNAs in Adjusting Alternative mRNA Splicing in Heart Development.Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa
P2860
Q24306552-D42E5D14-2947-493C-8546-932E06036ADDQ26748745-AE87D97C-8A77-4BFE-9AB2-AA78BD23F3FCQ27937907-CE8A4C6D-68A5-4E55-914D-D3E48F240B01Q28077564-12998D9E-F3AE-4B87-8D07-7B1A2E31F26CQ33739682-0FECAC64-A84F-4487-9973-21CC9B401E76Q33777270-EC3ED2DB-F265-4EA2-9996-412E5B6480B8Q33855473-E96F62D2-2C74-46CA-B51B-45FC1EC1EB98Q33942299-1CB5EF38-6A5F-4B79-B8E5-D3718C57F523Q33967955-E322C711-B82D-4550-AD73-174470F2FF8CQ34102442-96635BD2-8788-43F7-90F8-5F18713E67D9Q34556666-D71252EA-7E75-4FA6-8A66-5A8EB2EE5FF3Q35136973-717DD960-105C-4C38-B7C2-C66FC23020A4Q35647709-CB2AF0CC-D7B2-4907-AD1D-8094602996BFQ36286487-FA8BB952-F286-4665-AB47-4DB2EB191034Q37022749-8181F38E-5C84-4DE1-B031-F7BE4498DC37Q38076196-40D652B3-6C59-4A71-AD41-6814F4641D43Q38118935-05D7297C-0A1C-45DE-B449-8851894F79C1Q38124834-12607FEE-3D28-4119-9796-E5FCE6C7BFA6Q38180972-5332ADC0-B889-4856-8496-A1B3DB7A878FQ38417433-F2D999EA-242E-45C3-ACD6-1A3EF848628FQ38469185-D7130543-7DCD-40DB-A9F7-1981B668C22FQ38642996-541E3668-79AB-474D-B689-D7F5E9634A99Q38646466-8D9A7312-2AA6-4F35-970C-4CF48251CA3AQ38780090-5A006262-18F6-49B2-9CA4-052C434295CCQ41334187-EDED71D6-96EF-46F6-BCBA-A7BADA2A3893Q42144658-B0381F59-493A-49A7-9AEA-C6A1A1363400Q43077312-C166F77A-C629-48A2-A2C2-C0F810EDB8B5Q43243492-7700840B-7477-45E1-8E21-A4861A29EC59Q43422368-A5179769-2C36-49E4-AFB5-A937D0966CB1Q47222829-76DA8127-3743-47E4-9C0A-04A26576C557Q47433707-F874C500-1372-40A2-BA5D-005A5B6D8CD7Q47583754-A8F80FC1-523C-43D4-B346-245B98956048Q48127853-79F32888-1CBD-49BF-90B3-D54580FDB087Q49393183-A1654E57-F735-4637-AB59-57029CE2DFBDQ50098862-354648BA-65F7-4C5E-BF47-0265F4AF4848Q50155840-F12234CE-C88A-4CD4-A7D0-D78F2B153736Q52765902-8971CC02-6D97-46CB-A9FD-29BB88F89C76Q55057536-0EE5B0D5-77F1-4A11-897E-2C3D6105AC9FQ55497396-0FC03809-97A3-4581-AA01-F1CB34B4768CQ57471932-142DDF44-D90C-4EFA-B26A-437ECF9AF87A
P2860
PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa.
description
2011 nî lūn-bûn
@nan
2011 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի մարտին 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
PRPF mutations are associated ...... nts with retinitis pigmentosa.
@ast
PRPF mutations are associated ...... nts with retinitis pigmentosa.
@en
PRPF mutations are associated ...... nts with retinitis pigmentosa.
@nl
type
label
PRPF mutations are associated ...... nts with retinitis pigmentosa.
@ast
PRPF mutations are associated ...... nts with retinitis pigmentosa.
@en
PRPF mutations are associated ...... nts with retinitis pigmentosa.
@nl
prefLabel
PRPF mutations are associated ...... nts with retinitis pigmentosa.
@ast
PRPF mutations are associated ...... nts with retinitis pigmentosa.
@en
PRPF mutations are associated ...... nts with retinitis pigmentosa.
@nl
P2093
P2860
P356
P1476
PRPF mutations are associated ...... ents with retinitis pigmentosa
@en
P2093
Adriana Ransijn
Benoit Chabot
Eliot L Berson
Goranka Tanackovic
Philippe Thibault
Roscoe Klinck
P2860
P304
P356
10.1093/HMG/DDR094
P577
2011-03-05T00:00:00Z