Decoding Abnormal Splicing Code in Human Diseases
نویسندگان
چکیده
RNPs: Ribonucleoproteins; snRNPs: Small Nuclear Ribonucleoproteins; snRNA: Small Nuclear RNA; BP: Branch Point; PPT: Poly Pyrimidine Tract; ISE: Intronic Splicing Enhancer; ESE: Exonic Splicing Enhancer; ISS: Intronic Splicing Silencer; ESS: Exonic Splicing Silencer; SR Proteins: Serine/ArginineRich Proteins; RRM: RNA-Recognition Motif; RS Domains: Arginine and Serine Rich Domains; hnRNPs: Heterogeneous Nuclear Ribonucleoproteins; ARE: AU-Rich Element; NMD: Nonsense Mediated Decay; AChR: Acetylcholine Receptor; FzCRD: Frizzled-like Cysteine-Rich Domain; TE: Transposable Elements; SINEs: Short Interspersed Nuclear Elements; MIRs: Mammalian Interspersed Repeats; FCMD: Fukuyama Congenital Muscular Dystrophy; CMS: Congenital Myasthenic Syndrome; SMA: Spinal Muscular Atrophy; ALS: Amyotrophic Lateral Sclerosis; CLIP: Cross-Linked Immuno Precipitation; FTD: Fronto Temporal Dementia; NMJ: Neuromuscular Junction; AD: Alzheimer’s Disease; DCM: Dilated Cardiomyopathy; PARCLIP: Photoactivatable Ribonucleoside–Enhanced Crosslinking and Immuno Precipitation; NAS: Nonsense-Associated Altered Splicing; NASRE: NMD-Associated Skipping of a Remote Exon; PTC: Premature Termination Codon; MD: Myotonic Dystrophy; NSCLC: Non-Small Cell Lung Cancers; HPT-JT: Hyper ParathyroidismJaw Tumor Syndrome; FIHP: Familial Isolated Primary Hyper Parathyroidism; FED: Fish-Eye Disease; LQTS: Long QT Syndrome; CCA: Congenital Contractural Arachnodactyly; IGHD: Isolated Decoding Abnormal Splicing Code in Human Diseases
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