SpliceDisease
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The SpliceDisease database provides information linking RNA splicing to human disease, including the change of the nucleotide in the sequence, the location of the mutation on the gene, the reference Pubmed ID and detailed description for the relationship among gene mutations, splicing defects and diseases.
Description
More detailed information about this field from each metasource.
The SpliceDisease database provides information linking RNA splicing to human disease, including the change of the nucleotide in the sequence, the location of the mutation on the gene, the reference Pubmed ID and detailed description for the relationship among gene mutations, splicing defects and diseases.
metasource: Fairsharing.orgversion: FAIRsharing.org: SpliceDisease; SpliceDisease; DOI: https://doi.org/10.25504/FAIRsharing.kq47fy; Last edited: Jan. 8, 2019, 1:15 p.m.; Last accessed: Jan 03 2022 7:07 p.m.
Links between RNA splicing and disease
metasource: Nucleic Acid Research database catalogueversion: extracted_at: 2022-11-04T11:16:25.468657
Webpage:
http://cmbi.bjmu.edu.cn/SdiseaseWebpage
More detailed information about this field from each metasource.
http://cmbi.bjmu.edu.cn/Sdisease
metasource: Fairsharing.orgversion: FAIRsharing.org: SpliceDisease; SpliceDisease; DOI: https://doi.org/10.25504/FAIRsharing.kq47fy; Last edited: Jan. 8, 2019, 1:15 p.m.; Last accessed: Jan 03 2022 7:07 p.m.
metasource: Nucleic Acid Research database catalogue
version: extracted_at: 2022-11-04T11:16:25.468657
Publications:
Publications
More detailed information about this field from each metasource.
SpliceDisease database: linking RNA splicing and disease
PMID: 22139928
metasource: Fairsharing.org
version: FAIRsharing.org: SpliceDisease; SpliceDisease; DOI: https://doi.org/10.25504/FAIRsharing.kq47fy; Last edited: Jan. 8, 2019, 1:15 p.m.; Last accessed: Jan 03 2022 7:07 p.m.
http://dx.doi.org/10.1093/nar/GKR1171
metasource: Nucleic Acid Research database catalogue
version: extracted_at: 2022-11-04T11:16:25.468657
Publications
More detailed information about this field from each metasource.
SpliceDisease database: linking RNA splicing and disease
PMID: 22139928
metasource: Fairsharing.org
version: FAIRsharing.org: SpliceDisease; SpliceDisease; DOI: https://doi.org/10.25504/FAIRsharing.kq47fy; Last edited: Jan. 8, 2019, 1:15 p.m.; Last accessed: Jan 03 2022 7:07 p.m.
http://dx.doi.org/10.1093/nar/GKR1171
metasource: Nucleic Acid Research database catalogueversion: extracted_at: 2022-11-04T11:16:25.468657
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SpliceDisease database: linking RNA splicing and disease
PubMed citations: 31.
31 articles citing: SpliceDisease database: linking RNA splicing and disease
Identification of Alternative Splicing Events Associated with Paratuberculosis in Dairy Cattle Using Multi-Tissue RNA Sequencing Data. PMID:35328051
Detection and Functional Verification of Noncanonical Splice Site Mutations in Hereditary Deafness. PMID:34956325
Applications and potentials of nanopore sequencing in the (epi)genome and (epi)transcriptome era. PMID:34901902
Alternative Splicing: A New Cause and Potential Therapeutic Target in Autoimmune Disease. PMID:34484216
Lithium increases mitochondrial respiration in iPSC-derived neural precursor cells from lithium responders. PMID:34075196
Computational Methods for Identifying Similar Diseases. PMID:31678735
More than a messenger: Alternative splicing as a therapeutic target. PMID:31271898
A Novel Heterozygous Intronic Mutation in the FBN1 Gene Contributes to FBN1 RNA Missplicing Events in the Marfan Syndrome. PMID:30003093
Mycobacterium tuberculosis H37Rv infection regulates alternative splicing in Macrophages. PMID:29433383
Integration of mRNP formation and export. PMID:28314893
LOX-1 and Its Splice Variants: A New Challenge for Atherosclerosis and Cancer-Targeted Therapies. PMID:28146073
RNA splicing during terminal erythropoiesis. PMID:28118223
Fusing literature and full network data improves disease similarity computation. PMID:27578323
Nuclear poly(A)-binding protein aggregates misplace a pre-mRNA outside of SC35 speckle causing its abnormal splicing. PMID:27507886
Recruitment of the NineTeen Complex to the activated spliceosome requires AtPRMT5. PMID:27114555
Alternative Splicing in CKD. PMID:26763787
Defective control of pre-messenger RNA splicing in human disease. PMID:26728853
Modulators of alternative splicing as novel therapeutics in cancer. PMID:26468443
Single-Molecule Pull-Down FRET to Dissect the Mechanisms of Biomolecular Machines. PMID:26068753
SMN2 splice modulators enhance U1-pre-mRNA association and rescue SMA mice. PMID:26030728
Coupling and coordination in gene expression processes with pre-mRNA splicing. PMID:25768347
Pre-mRNA splicing is facilitated by an optimal RNA polymerase II elongation rate. PMID:25452276
In silico prediction of splice-altering single nucleotide variants in the human genome. PMID:25416802
SemFunSim: a new method for measuring disease similarity by integrating semantic and gene functional association. PMID:24932637
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
Oncogenic alternative splicing switches: role in cancer progression and prospects for therapy. PMID:24285959
SIDD: a semantically integrated database towards a global view of human disease. PMID:24146757
Alternative splicing and its impact as a cancer diagnostic marker. PMID:23105933
Life on two tracks. PMID:22917184
Nucleoside analog studies indicate mechanistic differences between RNA-editing adenosine deaminases. PMID:22885375
Identifying disease mutations in genomic medicine settings: current challenges and how to accelerate progress. PMID:22830651 - http://dx.doi.org/10.1093/nar/GKR1171
Tags:
Tags
More detailed information about this field from each metasource.
disease
metasource: Fairsharing.org
version: FAIRsharing.org: SpliceDisease; SpliceDisease; DOI: https://doi.org/10.25504/FAIRsharing.kq47fy; Last edited: Jan. 8, 2019, 1:15 p.m.; Last accessed: Jan 03 2022 7:07 p.m.
mutation analysis
metasource: Fairsharing.org
version: FAIRsharing.org: SpliceDisease; SpliceDisease; DOI: https://doi.org/10.25504/FAIRsharing.kq47fy; Last edited: Jan. 8, 2019, 1:15 p.m.; Last accessed: Jan 03 2022 7:07 p.m.
rna splicing
metasource: Fairsharing.org
version: FAIRsharing.org: SpliceDisease; SpliceDisease; DOI: https://doi.org/10.25504/FAIRsharing.kq47fy; Last edited: Jan. 8, 2019, 1:15 p.m.; Last accessed: Jan 03 2022 7:07 p.m.
human genes and diseases
metasource: Nucleic Acid Research database catalogue
version: extracted_at: 2022-11-04T11:16:25.468657
gene-, system- or disease-specific databases
metasource: Nucleic Acid Research database catalogue
version: extracted_at: 2022-11-04T11:16:25.468657
Tags
More detailed information about this field from each metasource.
disease
metasource: Fairsharing.orgversion: FAIRsharing.org: SpliceDisease; SpliceDisease; DOI: https://doi.org/10.25504/FAIRsharing.kq47fy; Last edited: Jan. 8, 2019, 1:15 p.m.; Last accessed: Jan 03 2022 7:07 p.m.
mutation analysis
metasource: Fairsharing.orgversion: FAIRsharing.org: SpliceDisease; SpliceDisease; DOI: https://doi.org/10.25504/FAIRsharing.kq47fy; Last edited: Jan. 8, 2019, 1:15 p.m.; Last accessed: Jan 03 2022 7:07 p.m.
rna splicing
metasource: Fairsharing.orgversion: FAIRsharing.org: SpliceDisease; SpliceDisease; DOI: https://doi.org/10.25504/FAIRsharing.kq47fy; Last edited: Jan. 8, 2019, 1:15 p.m.; Last accessed: Jan 03 2022 7:07 p.m.
human genes and diseases
metasource: Nucleic Acid Research database catalogueversion: extracted_at: 2022-11-04T11:16:25.468657
gene-, system- or disease-specific databases
metasource: Nucleic Acid Research database catalogueversion: extracted_at: 2022-11-04T11:16:25.468657
disease mutation analysis rna splicing human genes and diseases gene-, system- or disease-specific
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