SpliceDisease DB

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SpliceDisease DB

metasource: bio.tools
version: extracted_at: 2022-11-04T11:36:10.100293

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splicedisease_db

metasource: bio.tools
version: extracted_at: 2022-11-04T11:36:10.100293

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Other names: splicedisease_db

Linking RNA splicing and disease. Database that collects and curates data of RNA Splicing mutation and disease. The RNA Splicing mutations include cis-acting mutations that disrupt splicing and trans-acting mutations that affecting RNA-dependent functions that cause disease.

Webpage:

Publications:

Publications

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SpliceDisease database: linking RNA splicing and disease
PMID: 22139928

metasource: bio.tools
version: extracted_at: 2022-11-04T11:36:10.100293

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• SpliceDisease database: linking RNA splicing and disease PubMed citations: 31.

  31 articles citing: SpliceDisease database: linking RNA splicing and disease

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  Identification of Alternative Splicing Events Associated with Paratuberculosis in Dairy Cattle Using Multi-Tissue RNA Sequencing Data. PMID:35328051

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  Detection and Functional Verification of Noncanonical Splice Site Mutations in Hereditary Deafness. PMID:34956325

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  Applications and potentials of nanopore sequencing in the (epi)genome and (epi)transcriptome era. PMID:34901902

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  Alternative Splicing: A New Cause and Potential Therapeutic Target in Autoimmune Disease. PMID:34484216

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  Lithium increases mitochondrial respiration in iPSC-derived neural precursor cells from lithium responders. PMID:34075196

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  Computational Methods for Identifying Similar Diseases. PMID:31678735

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  More than a messenger: Alternative splicing as a therapeutic target. PMID:31271898

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  A Novel Heterozygous Intronic Mutation in the FBN1 Gene Contributes to FBN1 RNA Missplicing Events in the Marfan Syndrome. PMID:30003093

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  Mycobacterium tuberculosis H37Rv infection regulates alternative splicing in Macrophages. PMID:29433383

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  Integration of mRNP formation and export. PMID:28314893

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  LOX-1 and Its Splice Variants: A New Challenge for Atherosclerosis and Cancer-Targeted Therapies. PMID:28146073

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  RNA splicing during terminal erythropoiesis. PMID:28118223

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  Fusing literature and full network data improves disease similarity computation. PMID:27578323

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  Nuclear poly(A)-binding protein aggregates misplace a pre-mRNA outside of SC35 speckle causing its abnormal splicing. PMID:27507886

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  Recruitment of the NineTeen Complex to the activated spliceosome requires AtPRMT5. PMID:27114555

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  Alternative Splicing in CKD. PMID:26763787

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  Defective control of pre-messenger RNA splicing in human disease. PMID:26728853

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  Modulators of alternative splicing as novel therapeutics in cancer. PMID:26468443

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  Single-Molecule Pull-Down FRET to Dissect the Mechanisms of Biomolecular Machines. PMID:26068753

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  SMN2 splice modulators enhance U1-pre-mRNA association and rescue SMA mice. PMID:26030728

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  Coupling and coordination in gene expression processes with pre-mRNA splicing. PMID:25768347

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  Pre-mRNA splicing is facilitated by an optimal RNA polymerase II elongation rate. PMID:25452276

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  In silico prediction of splice-altering single nucleotide variants in the human genome. PMID:25416802

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  SemFunSim: a new method for measuring disease similarity by integrating semantic and gene functional association. PMID:24932637

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  A meta-analysis of somatic mutations from next generation sequencing of 241 melanomas: a road map for the study of genes with potential clinical relevance. PMID:24755198

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  Oncogenic alternative splicing switches: role in cancer progression and prospects for therapy. PMID:24285959

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  SIDD: a semantically integrated database towards a global view of human disease. PMID:24146757

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  Alternative splicing and its impact as a cancer diagnostic marker. PMID:23105933

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  Life on two tracks. PMID:22917184

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  Nucleoside analog studies indicate mechanistic differences between RNA-editing adenosine deaminases. PMID:22885375

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  Identifying disease mutations in genomic medicine settings: current challenges and how to accelerate progress. PMID:22830651

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rna splicing

metasource: bio.tools
version: extracted_at: 2022-11-04T11:36:10.100293

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pathology

metasource: bio.tools
version: extracted_at: 2022-11-04T11:36:10.100293

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genetic variation

metasource: bio.tools
version: extracted_at: 2022-11-04T11:36:10.100293

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molecular interactions, pathways and networks

metasource: bio.tools
version: extracted_at: 2022-11-04T11:36:10.100293

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gene transcripts

metasource: bio.tools
version: extracted_at: 2022-11-04T11:36:10.100293

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rna splicing pathology genetic variation molecular interactions, pathways and networks gene transcripts