Expression of PRPF31 mRNA in patients with autosomal dominant retinitis pigmentosa: a molecular clue for incomplete penetrance?
about
sameAs
Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplexHeterozygous mutations of OTX2 cause severe ocular malformationsRetinal dystrophies, genomic applications in diagnosis and prospects for therapyGenomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosaPrevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 familiesPrevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports.Mutations in spliceosomal proteins and retina degenerationTemporal and tissue specific regulation of RP-associated splicing factor genes PRPF3, PRPF31 and PRPC8--implications in the pathogenesis of RP.Comprehensive SNP-chip for retinitis pigmentosa-Leber congenital amaurosis diagnosis: new mutations and detection of mutational founder effects.Dominant PRPF31 mutations are hypostatic to a recessive CNOT3 polymorphism in retinitis pigmentosa: a novel phenomenon of "linked trans-acting epistasis".Retinitis pigmentosa: genes and disease mechanisms.A Study into the Evolutionary Divergence of the Core Promoter Elements of PRPF31 and TFPT.Mutant Prpf31 causes pre-mRNA splicing defects and rod photoreceptor cell degeneration in a zebrafish model for Retinitis pigmentosa.Ocular coloboma: a reassessment in the age of molecular neuroscience.Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases.Identification of an Alternative Splicing Product of the Otx2 Gene Expressed in the Neural Retina and Retinal Pigmented Epithelial CellsPremature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay.Novel PRPF31 mutations associated with Chinese autosomal dominant retinitis pigmentosa patientsTranscriptional regulation of PRPF31 gene expression by MSR1 repeat elements causes incomplete penetrance in retinitis pigmentosa.Autosomal recessive retinitis pigmentosa with homozygous rhodopsin mutation E150K and non-coding cis-regulatory variants in CRX-binding regions of SAMD7Pre-mRNA splicing and retinitis pigmentosaGenetic factors modifying clinical expression of autosomal dominant RP.Evaluation of splicing efficiency in lymphoblastoid cell lines from patients with splicing-factor retinitis pigmentosa.Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.Penetrance of pulmonary arterial hypertension is modulated by the expression of normal BMPR2 alleleRhodopsin F45L Allele Does Not Cause Autosomal Dominant Retinitis Pigmentosa in a Large Caucasian Family.Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Identification and functional characterization of a novel splicing mutation in RP gene PRPF31A novel PRPF31 mutation in a large Chinese family with autosomal dominant retinitis pigmentosa and macular degeneration.Two novel PRP31 premessenger ribonucleic acid processing factor 31 homolog mutations including a complex insertion-deletion identified in Chinese families with retinitis pigmentosa.A single-base substitution within an intronic repetitive element causes dominant retinitis pigmentosa with reduced penetranceA molecular basis for variation in clinical severity of isolated growth hormone deficiency type II.Breakpoint characterization of a novel approximately 59 kb genomic deletion on 19q13.42 in autosomal-dominant retinitis pigmentosa with incomplete penetrance.Unravelling the genetic basis of simplex Retinitis Pigmentosa cases.Whole exome sequencing of a dominant retinitis pigmentosa family identifies a novel deletion in PRPF31Developments in RNA splicing and disease.RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlation.Autosomal 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.Variant haploinsufficiency and phenotypic non-penetrance in PRPF31-associated retinitis pigmentosa.Course of Ocular Function in PRPF31 Retinitis Pigmentosa.
P2860
Q24306390-60308E6E-9E53-4F30-AA95-55BE1E469DF6Q24530768-38FF940C-FBC1-438F-A1AA-EA5B8F5A38C0Q26770321-0296EBD7-025F-49D1-AB75-B0D12F7D9661Q30437852-A5D4A4C1-0661-48D9-B34E-984F669BABB4Q30440790-C65597AF-59C1-4AA6-AEED-60ABDAE8F9B4Q33715782-DB94B1DE-4725-44F1-AF71-31759064B563Q33739682-C5CE8974-F3A5-4AE6-A3F0-9478F51D166FQ33808539-3F305118-0ADD-4FD3-9029-A428A81647A9Q34328447-8ABB05AE-1624-4259-9ACA-847D24A1D26EQ34556666-99ED5C1F-93BD-43BE-81A6-191AE3D83422Q35092179-0968AE4C-35E2-4E41-BAC2-5F32123CE456Q35124763-5E216ADB-A992-4179-9B6B-6C7297F1C24CQ35172047-E2620A15-B99F-466C-81CE-B820C17F9A1AQ35444452-CE2DF9F4-710F-4226-B941-793AB322D9C6Q35959606-F2C49546-8DEF-4635-B2F6-95C6115B40CFQ35960388-BA977E8E-A646-4CFB-B35D-07785B00549AQ36487292-D383673C-2424-4EEB-9003-5E39AD11EE32Q36499598-1F2DD649-5630-4AFF-9EEF-A6369A5FAD3BQ36499782-D68A6F45-CB9B-43A6-9418-229F5C53D0C3Q36592020-4793D540-9FCC-4D9B-B4B5-CCA7D1D2A94CQ36655877-FEE18F32-9CD8-4FAB-8845-F952F9566847Q36717081-57037EE7-6D61-4407-B3F9-DAE12414E967Q37016489-CC660E1A-7D41-4E15-8FA6-CF3407440C3BQ37049729-AD2E6A53-8DBC-47C8-BB3F-8D7E064D755BQ37144624-DF8A38B9-629C-4B31-A036-178800A32846Q37149399-A0412464-A053-4758-BDBD-1B60C8D063EEQ37187461-B472263E-106E-4902-9B70-969F04E0AFCBQ37267017-769DD543-D3C1-4196-B448-6ED06F60CCCAQ37297575-0A01BC6B-F0DC-4CC1-B21B-3F2F7CAF477FQ37363942-87C98772-F629-4EED-8AF5-4E188B0D6FA2Q37365488-28EE1D60-945F-42F4-A8AA-A82989D6F268Q37482670-C9EE4DE7-D100-447F-AC8E-5C5AF2E34059Q37484938-23888EAD-52C0-42F0-95FD-E6259BFE6D4EQ37623694-AD92FB86-14E4-4D86-9AA5-A01767D3675CQ37691934-FCD00D5A-0F44-47C6-8FD9-EA13B6FCD16FQ37810374-E1F87DD3-0396-433F-AB81-6DEC597B382DQ37952620-B4198958-5E55-4A9D-BBAA-83B3225E9EDBQ38076196-48B5B000-132F-4AF3-9EDB-6746D6608B67Q38725572-081C2DD2-9D2B-4A5B-98A0-7A233970BB7BQ38766806-BB25445C-B93A-413B-A52A-8D3B2DC78809
P2860
Expression of PRPF31 mRNA in patients with autosomal dominant retinitis pigmentosa: a molecular clue for incomplete penetrance?
description
2003 nî lūn-bûn
@nan
2003 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Expression of PRPF31 mRNA in p ...... lue for incomplete penetrance?
@ast
Expression of PRPF31 mRNA in p ...... lue for incomplete penetrance?
@en
Expression of PRPF31 mRNA in p ...... lue for incomplete penetrance?
@nl
type
label
Expression of PRPF31 mRNA in p ...... lue for incomplete penetrance?
@ast
Expression of PRPF31 mRNA in p ...... lue for incomplete penetrance?
@en
Expression of PRPF31 mRNA in p ...... lue for incomplete penetrance?
@nl
prefLabel
Expression of PRPF31 mRNA in p ...... lue for incomplete penetrance?
@ast
Expression of PRPF31 mRNA in p ...... lue for incomplete penetrance?
@en
Expression of PRPF31 mRNA in p ...... lue for incomplete penetrance?
@nl
P2093
P3181
P356
P1476
Expression of PRPF31 mRNA in p ...... lue for incomplete penetrance?
@en
P2093
Alan C Bird
Dan Hornan
David M Hunt
Elizabeth Winchester
Eranga N Vithana
Leen Abu-Safieh
Lucia Pelosini
Shomi S Bhattacharya
P304
P3181
P356
10.1167/IOVS.03-0253
P407
P577
2003-10-01T00:00:00Z