1. TDP-43 dysfunction leads to the accumulation of cryptic transposable element-derived exons, crypTEs, in iPSC derived neurons and ALS/FTD patient tissues
   2026/01/09 by Isobel Bolger, Regina Shaw, Oliver H. Tam +7 · 2 voices
   Biochemistry, Genetics and Molecular Biology · Medicine · Neuroscience · #Alternative splicing #Amyotrophic Lateral Sclerosis Research #Exon #Gene #Gene expression #Genetic Neurodegenerative Diseases #Intron #RNA #RNA Research and Splicing #RNA splicing #Regulation of gene expression #Transposable element
2. The genetic basis of tail-loss evolution in humans and apes
   2021/09/16 by Bo Xia, Weimin Zhang, Aleksandra Wudzinska +9 · 1 citation
   Biochemistry, Genetics and Molecular Biology · #RNA Research and Splicing #Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities #Cancer-related molecular mechanisms research #Alu element #Biology #Exon #Genetics #Phenotype #Lineage (genetic) #Evolutionary biology #Genome #Brachyury #Intron #Gene #Most recent common ancestor #Gene duplication #Human genome
3. Spotlight on Mobocertinib (TAK-788) in NSCLC with EGFR Exon 20 Insertion Mutations
   2021/07/01 by Shannon Zhang, Viola W. Zhu · 1 citation
   Medicine · Biochemistry, Genetics and Molecular Biology · #Lung Cancer Treatments and Mutations #Cancer Genomics and Diagnostics #Colorectal Cancer Treatments and Studies #Medicine #Osimertinib #Exon #Lung cancer #Oncology #Mutation #Chemotherapy #Epidermal growth factor receptor #Cancer research #Internal medicine #Erlotinib #Cancer #Gene #Genetics #Biology
4. Mobocertinib (TAK-788): A Targeted Inhibitor of EGFR Exon 20 Insertion Mutants in Non–Small Cell Lung Cancer
   2021/02/25 by Francois Gonzalvez, Sylvie Vincent, Theresa E. Baker +23 · 4 citations
   Medicine · Biochemistry, Genetics and Molecular Biology · #Lung Cancer Treatments and Mutations #PI3K/AKT/mTOR signaling in cancer #Cancer Mechanisms and Therapy #Exon #Mutant #Cancer research #Mutation #Lung cancer #Cancer #Biology #Medicine #Genetics #Pathology #Gene
5. m6A mRNA modifications are deposited in nascent pre-mRNA and are not required for splicing but do specify cytoplasmic turnover
   2017/05/15 by Shengdong Ke, Amy Pandya‐Jones, Yuhki Saito +7 · 1 citation
   Biochemistry, Genetics and Molecular Biology · #RNA modifications and cancer #Cancer-related gene regulation #Cancer-related molecular mechanisms research #Biology #RNA splicing #Messenger RNA #Precursor mRNA #Exon #Molecular biology #Intron #RNA #Mature messenger RNA #P-bodies #Nucleoplasm #Cell biology #Small nuclear RNA #Cytoplasm #Genetics #Non-coding RNA #Gene #Translation (biology) #Nucleolus
6. Gene expression profiling in the human alcoholic brain
   2017/03/15 by Anna S. Warden, R. Dayne Mayfield · 1 citation
   Biochemistry, Genetics and Molecular Biology · Medicine · Neuroscience · #Adipose Tissue and Metabolism #Alcohol #Alcohol dependence #Alcohol use disorder #Alternative splicing #Bioinformatics #Biology #Cancer-related molecular mechanisms research #Computational biology #Exon #Gene #Gene expression #Gene expression profiling #Genetics #Human brain #Neuroscience #Peroxisome Proliferator-Activated Receptors #Phenotype #Regulation of gene expression #Transcriptome
7. RNA Therapeutics for Treatment of Cardiovascular Diseases
   2016/09/15 by Tina Lucas, Stefanie Dimmeler · 7 citations
   Biochemistry, Genetics and Molecular Biology · #Alternative splicing #Biology #Cancer-related molecular mechanisms research #Computational biology #Epigenetics #Exon #Gene #Genetics #MicroRNA in disease regulation #Non-coding RNA #RNA #RNA modifications and cancer #RNA splicing #Small nucleolar RNA #Untranslated region #microRNA
8. A majority of m6A residues are in the last exons, allowing the potential for 3′ UTR regulation
   2015/09/24 by Shengdong Ke, Endalkachew A. Alemu, Claudia Mertens +12 · 2 citations
   Biochemistry, Genetics and Molecular Biology · #RNA modifications and cancer #Cancer-related gene regulation #RNA Research and Splicing #Exon #Biology #Untranslated region #Exon trapping #Genetics #Messenger RNA #Exon shuffling #Intron #Stop codon #Molecular biology #Gene #Tandem exon duplication #Alternative splicing
9. Identification of a novel MET mutation in high-grade glioma resulting in an auto-active intracellular protein
   2015/04/10 by Anna C. Navis, Sanne A. M. van Lith, Sander M. J. van Duijnhoven +16 · 24 citations
   Biochemistry, Genetics and Molecular Biology · Medicine · #Alternative splicing #Biology #Cancer Mechanisms and Therapy #Cancer research #Carcinogenesis #Exon #Gene #Genetics #Glioma #Liver physiology and pathology #Microtubule and mitosis dynamics #Molecular biology #Mutation #RNA splicing #Receptor #Signal transduction #Transmembrane protein #Tyrosine kinase
10. Direct Competition between hnRNP C and U2AF65 Protects the Transcriptome from the Exonization of Alu Elements
    2013/01/01 by Kathi Zarnack, Julian König, Mojca Tajnik +7 · 4 citations
    Biochemistry, Genetics and Molecular Biology · #RNA Research and Splicing #RNA and protein synthesis mechanisms #RNA modifications and cancer #Biology #Alu element #Minigene #Transcriptome #Genetics #RNA splicing #Transposable element #Exon #Human genome #Genome #Alternative splicing #Gene #RNA #Gene expression
11. Feasibility of real time next generation sequencing of cancer genes linked to drug response: Results from a clinical trial
    2012/09/05 by Ben Tran, Andrew Brown, Philippe L. Bédard +21 · 1 citation
    Biochemistry, Genetics and Molecular Biology · Medicine · #Cancer Genomics and Diagnostics #Genomics and Rare Diseases #Lung Cancer Treatments and Mutations #Sanger sequencing #Medicine #Genotyping #Liquid biopsy #Multiplex #Oncology #DNA sequencing #Precision medicine #Personalized medicine #Exon #Biopsy #Ion semiconductor sequencing #Gene #Internal medicine #Bioinformatics #Cancer #Genetics #Biology #Pathology #Genotype
12. GENCODE: The reference human genome annotation for The ENCODE Project
    2012/09/01 by Jennifer Harrow, Adam Frankish, José M. González +38 · 4 citations
    Biochemistry, Genetics and Molecular Biology · #Cancer-related molecular mechanisms research #RNA modifications and cancer #RNA Research and Splicing #Ensembl #RefSeq #Biology #Genome project #Genetics #ENCODE #Gene #Genome #Gene Annotation #Computational biology #Annotation #Human genome #RNA splicing #Genome browser #Exon #Reference genome #RNA #Genomics
13. Muscleblind-like 2-Mediated Alternative Splicing in the Developing Brain and Dysregulation in Myotonic Dystrophy
    2012/08/01 by Konstantinos Charizanis, Kuang-Yung Lee, Ranjan Batra +29 · 3 citations
    Biochemistry, Genetics and Molecular Biology · Neuroscience · Psychology · #Alternative splicing #Biology #Exon #Gene #Genetic Neurodegenerative Diseases #Genetics #Mitochondrial Function and Pathology #Muscle Physiology and Disorders #Myotonic dystrophy #Neuroscience #Psychology #RNA #RNA splicing
14. Ptbp2 represses adult-specific splicing to regulate the generation of neuronal precursors in the embryonic brain
    2012/07/15 by Donny D. Licatalosi, Masato Yano, John J. Fak +4 · 3 citations
    Biochemistry, Genetics and Molecular Biology · Neuroscience · #RNA Research and Splicing #RNA modifications and cancer #Cancer-related molecular mechanisms research #Biology #Neurogenesis #Alternative splicing #Exon #RNA-binding protein #Cell biology #RNA splicing #Neocortex #Embryonic stem cell #Neural stem cell #Long non-coding RNA #Progenitor cell #Polypyrimidine tract-binding protein #RNA #Genetics #Stem cell #Gene #Neuroscience
15. Evolutionary origin of β-defensins
    2012/02/25 by Shunyi Zhu, Bin Gao · 1 citation
    Biochemistry, Genetics and Molecular Biology · Immunology and Microbiology · #Antimicrobial Peptides and Activities #Beta defensin #Biology #Conserved sequence #Defensin #Evolutionary biology #Exon #Exon shuffling #Gene #Genetics #Intron #Invertebrate Immune Response Mechanisms #Lineage (genetic) #Peptide sequence #Phylogenetic tree #Phylogenetics #Phylum #Protein Hydrolysis and Bioactive Peptides #Tandem exon duplication #Vertebrate
16. Using positional distribution to identify splicing elements and predict pre-mRNA processing defects in human genes
    2011/06/17 by Kian‐Huat Lim, Luciana Ferraris, Madeleine E. Filloux +2 · 1 citation
    Biochemistry, Genetics and Molecular Biology · #Alternative splicing #Biology #Exon #Exonic splicing enhancer #Gene #Genetics #Intron #Minigene #RNA #RNA Research and Splicing #RNA and protein synthesis mechanisms #RNA modifications and cancer #RNA splicing #Ribonucleoprotein #SR protein #Splicing factor
17. The genetics of Dravet syndrome
    2011/04/01 by Carla Marini, Ingrid E. Scheffer, Rima Nabbout +4 · 29 citations
    Biochemistry, Genetics and Molecular Biology · Medicine · Neuroscience · #Biology #Dravet syndrome #Epilepsy #Epilepsy research and treatment #Exon #Gene #Genetics #Ion Transport and Channel Regulation #Missense mutation #Mutation #Myoclonic epilepsy #Neuroscience #Pharmacological Effects and Toxicity Studies #Phenotype
18. Characterizing the RNA targets and position-dependent splicing regulation by TDP-43
    2011/02/27 by James Tollervey, Tomaž Curk, Boris Rogelj +13 · 6 citations
    Medicine · Biochemistry, Genetics and Molecular Biology · #Amyotrophic Lateral Sclerosis Research #RNA Research and Splicing #Neurogenetic and Muscular Disorders Research #RNA splicing #RNA-binding protein #Frontotemporal lobar degeneration #Alternative splicing #Exon #Biology #Gene isoform #RNA #Messenger RNA #Cell biology #Molecular biology #Genetics #Gene #Frontotemporal dementia #Medicine
19. Lack of scientific rationale for use of valproic acid for retinitis pigmentosa
    2010/12/03 by M. A. Sandberg, Michael A. Sandberg, B. Rosner +4 · 9 citations
    Biochemistry, Genetics and Molecular Biology · Medicine · #Biology #Biopsy #Cardiomyopathy and Myosin Studies #Compound heterozygosity #Exon #Gene #Genetics #Hypotonia #Internal medicine #Medicine #Missense mutation #Muscle Physiology and Disorders #Muscle biopsy #Mutation #Nonsense mutation #Ophthalmology #Pathology #Peptidase Inhibition and Analysis #Retinal #Retinitis pigmentosa
20. iCLIP reveals the function of hnRNP particles in splicing at individual nucleotide resolution
    2010/07/01 by Julian König, Kathi Zarnack, Gregor Rot +8 · 18 citations
    Biochemistry, Genetics and Molecular Biology · #Alternative splicing #Biology #Cell biology #Exon #Exonic splicing enhancer #Gene #Genetics #Heterogeneous nuclear ribonucleoprotein #Heterogeneous ribonucleoprotein particle #Immunoprecipitation #Intron #Precursor mRNA #RNA #RNA Research and Splicing #RNA and protein synthesis mechanisms #RNA modifications and cancer #RNA splicing #RNA-binding protein #Ribonucleoprotein #Small nuclear ribonucleoprotein
21. Alternatively spliced N-terminal exons in tropomyosin isoforms do not act as autonomous targeting signals
    2009/12/23 by Claire Martin, Galina Schevzov, Peter Gunning +1 · 1 citation
    Biochemistry, Genetics and Molecular Biology · Chemistry · Medicine · #Actin #Actin cytoskeleton #Alternative splicing #Biochemistry #Biology #Cardiomyopathy and Myosin Studies #Cell #Cell biology #Cellular Mechanics and Interactions #Chemistry #Cytoskeleton #Exon #Gene #Gene isoform #Intermediate filament #Molecular biology #Mutant #RNA #RNA Research and Splicing #RNA splicing #Tropomyosin
22. Genome-wide Analysis of PTB-RNA Interactions Reveals a Strategy Used by the General Splicing Repressor to Modulate Exon Inclusion or Skipping
    2009/12/01 by Yuanchao Xue, Yu Zhou, Tongbin Wu +14 · 4 citations
    Biochemistry, Genetics and Molecular Biology · #Alternative splicing #Biology #Computational biology #Exon #Exon skipping #Exonic splicing enhancer #Gene #Gene expression #Genetics #Minigene #Polypyrimidine tract #Polypyrimidine tract-binding protein #Proteome #RNA #RNA Research and Splicing #RNA and protein synthesis mechanisms #RNA modifications and cancer #RNA splicing #RNA-binding protein #Splicing factor #Transcriptome
23. PHF8, a gene associated with cleft lip/palate and mental retardation, encodes for an Nε-dimethyl lysine demethylase
    2009/10/19 by Christoph Loenarz, Wei Ge, Mathew L. Coleman +5 · 1 citation
    Biochemistry, Genetics and Molecular Biology · Medicine · #Epigenetics and DNA Methylation #RNA modifications and cancer #Folate and B Vitamins Research #Demethylase #Biology #Exon #Genetics #Histone #Missense mutation #Gene #Mutation #Histone H3 #Molecular biology #Biochemistry
24. MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: New patients and novel mutations
    2009/10/14 by Ayman W. El‐Hattab, Ayman W. El-Hattab, Fang-Yuan Li +5 · 1 citation
    Biochemistry, Genetics and Molecular Biology · #ATP Synthase and ATPases Research #Biology #Compound heterozygosity #Exon #Gene #Gene mutation #Genetics #Metabolism and Genetic Disorders #Missense mutation #Mitochondrial DNA #Mitochondrial Function and Pathology #Molecular biology #Mutation #Splice site mutation
25. Homozygosity Mapping Reveals PDE6C Mutations in Patients with Early-Onset Cone Photoreceptor Disorders
    2009/07/17 by Alberta A. H. J. Thiadens, Alberta A.H.J. Thiadens, Anneke I. den Hollander +18 · 2 citations
    Biochemistry, Genetics and Molecular Biology · Neuroscience · #Biochemistry #Biology #Exon #Frameshift mutation #Gene #Genetics #Missense mutation #Mutation #Olfactory and Sensory Function Studies #Proband #Retinal #Retinal Development and Disorders #Visual phototransduction
26. An RNA code for the FOX2 splicing regulator revealed by mapping RNA-protein interactions in stem cells
    2009/01/11 by G Yeo, Gene W Yeo, Nicole G Coufal +8 · 2 citations
    Biochemistry, Genetics and Molecular Biology · #Alternative splicing #Biology #Cell biology #Computational biology #Embryonic stem cell #Exon #Exonic splicing enhancer #Gene #Genetics #Minigene #RNA #RNA Research and Splicing #RNA and protein synthesis mechanisms #RNA modifications and cancer #RNA splicing #RNA-binding protein #Regulator #Splicing factor
27. Splicing factor SFRS1 recognizes a functionally diverse landscape of RNA transcripts
    2008/12/30 by Jeremy R. Sanford, Xin Wang, Matthew Mort +5 · 7 citations
    Biochemistry, Genetics and Molecular Biology · #RNA and protein synthesis mechanisms #RNA Research and Splicing #RNA modifications and cancer #Biology #RNA splicing #Genetics #Alternative splicing #Exon #Intron #Gene #Splicing factor #RNA-binding protein #Minigene #Exonic splicing enhancer #Computational biology #RNA
28. Characterization of a major histocompatibility class II A gene (Clha‐DAA) with an embedded microsatellite marker in Atlantic herring (Clupea harengus L.)
    2008/07/29 by R.J.M. Stet, R. J. M. Stet, K. Mudde +10 · 1 citation
    Biochemistry, Genetics and Molecular Biology · Immunology and Microbiology · #Allele #Aquaculture disease management and microbiota #Atlantic herring #Biology #Clupea #Exon #Fishery #Gene #Genetic and phenotypic traits in livestock #Genetics #Haplotype #Herring #Identification and Quantification in Food #Intron #Locus (genetics) #Microsatellite #Molecular biology
29. Assignment of the human α-tropomyosin gene TPM3 to 1q22→q23 by fluorescence in situ hybridisation
    2008/05/15 by Steve D. Wilton, H.J. Eyre, P. Anthony Akkari +4 · 1 citation
    Medicine · Biochemistry, Genetics and Molecular Biology · #Cardiomyopathy and Myosin Studies #Microtubule and mitosis dynamics #Muscle Physiology and Disorders #Biology #Gene #Genetics #Exon #Coding region #Locus (genetics) #Fluorescence in situ hybridization #Gene mapping #Tropomyosin #Gene product #Molecular biology #Actin #Chromosome #Gene expression
30. Phylogeny, diversity, and classification of the Accipitridae based on DNA sequences of the RAG-1 exon
    2007/08/21 by Carole S. Griffiths, George F. Barrowclough, Jeff G. Groth +1 · 2 citations
    Biochemistry, Genetics and Molecular Biology · Environmental Science · #Genetic diversity and population structure #Genomics and Phylogenetic Studies #Avian ecology and behavior #Biology #Accipitridae #Evolutionary biology #Phylogenetics #Genetics #Exon #DNA sequencing #Diversity (politics) #Computational biology #DNA #Gene #Ecology #Anthropology

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