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PRPF31
Organ Level Protein Networks As a Reference for the Host Effects of the Microbiome
A Computational Approach for Defining a Signature of Β-Cell Golgi Stress in Diabetes Mellitus
Targeted Exome Capture and Sequencing Identifies Novel
The Alter Retina: Alternative Splicing of Retinal Genes in Health and Disease
Mrna Editing, Processing and Quality Control in Caenorhabditis Elegans
Disrupted Alternative Splicing for Genes Implicated in Splicing and Ciliogenesis Causes PRPF31 Retinitis Pigmentosa
RBMX Family Proteins Connect the Fields of Nuclear RNA Processing
Premature Termination Codons in PRPF31 Cause Retinitis Pigmentosa Via Haploinsufficiency Due to Nonsense-Mediated Mrna Decay Thomas Rio Frio,1 Nicholas M
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Minor Spliceosome Components Are Predominantly Localized in the Nucleus
AAV-Mediated Gene Augmentation Therapy Restores Critical Functions in Mutant Ipsc
New Roles for the RNA Processing Factors Cfim68 and SRPK2 Highlight Unexpected Links in the Control of Mammalian Gene Expression
A Novel Mutation in PRPF31, Causative of Autosomal Dominant Retinitis Pigmentosa, Using the BGISEQ-500 Sequencer
Biological Networks and GWAS: Comparing and Combining Network Methods to Understand the Genetics of Familial Breast Cancer Susceptibility in the GENESIS Study
Review Pre-Mrna Splicing and Retinitis Pigmentosa
Autosomal Dominant Retinitis Pigmentosa with Intrafamilial Variability and Incomplete Penetrance in Two Families Carrying Mutations in PRPF8
Retinal Pigment Epithelium Degeneration Caused by Aggregation of PRPF31 and the Role of HSP70 Family of Proteins Lourdes Valdés-Sánchez1†, Sofia M
A Meta-Analysis of the Effects of High-LET Ionizing Radiations in Human Gene Expression
Top View
Identification of Photoreceptor Genes Affected by PRPF31 Mutations Associated with Autosomal Dominant Retinitis Pigmentosa
Mutation Spectrum of PRPF31, Genotype-Phenotype
Accepted Manuscript
In Vivo Discovery of RNA Proximal Proteins in Human Cells Via
The Mutant HTT Mrna-Protein Interactome Implications in RNA
Supplemental Figures and Legends.Pdf
High-Throughput PRPF31 Variant Characterisation Pipeline Consistent with ACMG/AMP 2 Clinical Variant Interpretation Guidelines
Three Gene-Targeted Mouse Models of RNA Splicing Factor RP Show Late-Onset RPE and Retinal Degeneration
MOL231: Alternative Splicing of the Pre-Mrna Processing Factor 31 (PRPF31) in Retinitis Pigmentosa
Clinical Evidence for the Importance of the Wild-Type PRPF31 Allele in the Phenotypic Expression of RP11
Searchable Database of Spliceosome Proteins
Time-Resolved Quantitative Proteomics Implicates the Core Snrnp Protein
Complement Activation in Peritoneal Dialysis–Induced Arteriolopathy
Effectively Target Estrogen Receptor Positive Human Breast Cancers
Two Novel Mutations in PRPF3 Causing Autosomal Dominant
Human PRP4 Kinase Is Required for Stable Tri-Snrnp Association During Spliceosomal B Complex Formation
Lineage-Specific Programming Target Genes Defines Potential for Th1
Pluripotency Characterization of Human Ipsc Lines from Three Healthy Donors