MET exon 14 skipping mutation is a hepatocyte growth factor (HGF)-dependent oncogenic driver in vitro and in humanized HGF knock-in mice.
Sign Up to like & getrecommendations! Published in 2023 at "Molecular oncology"
DOI: 10.1002/1878-0261.13397
Abstract: Exon skipping mutations of the MET receptor tyrosine kinase (METex14), increasingly reported in cancers, occur in 3-4% of non-small cell lung cancer (NSCLC). Only 50% of patients have a beneficial response to treatment with MET-tyrosine… read more here.
Keywords: factor hgf; humanized hgf; hgf; hepatocyte growth ... See more keywords
Update of genetic variants in CEP120 and CC2D2A-With an emphasis on genotype-phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies.
Sign Up to like & getrecommendations! Published in 2021 at "Molecular genetics & genomic medicine"
DOI: 10.1002/mgg3.1603
Abstract: BACKGROUND Mutations in ciliary genes cause a spectrum of both overlapping and distinct clinical syndromes (ciliopathies). CEP120 and CC2D2A are paradigmatic examples for this genetic heterogeneity and pleiotropy as mutations in both cause Joubert syndrome… read more here.
Keywords: tissue specific; genetic variants; exon; cep120 cc2d2a ... See more keywords
Invention and Early History of Exon Skipping and Splice Modulation.
Sign Up to like & getrecommendations! Published in 2018 at "Methods in molecular biology"
DOI: 10.1007/978-1-4939-8651-4_1
Abstract: Since its discovery in 1977, much has been known about RNA splicing and how it plays a central role in human development, function, and, notably, disease. Defects in RNA splicing account for at least 10%… read more here.
Keywords: modulation; exon skipping; splice modulation; invention ... See more keywords
Systemic Injection of Peptide-PMOs into Humanized DMD Mice and Evaluation by RT-PCR and ELISA.
Sign Up to like & getrecommendations! Published in 2018 at "Methods in molecular biology"
DOI: 10.1007/978-1-4939-8651-4_16
Abstract: Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder due to the lack of dystrophin production. The disease is characterized by muscle wasting, with the most common causes of death being respiratory failure or heart… read more here.
Keywords: dmd; injection peptide; pcr; humanized dmd ... See more keywords
An Overview of Recent Advances and Clinical Applications of Exon Skipping and Splice Modulation for Muscular Dystrophy and Various Genetic Diseases.
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DOI: 10.1007/978-1-4939-8651-4_2
Abstract: Exon skipping is a therapeutic approach that is feasible for various genetic diseases and has been studied and developed for over two decades. This approach uses antisense oligonucleotides (AON) to modify the splicing of pre-mRNA… read more here.
Keywords: muscular dystrophy; dystrophy; various genetic; genetic diseases ... See more keywords
Dysferlin Exon 32 Skipping in Patient Cells.
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DOI: 10.1007/978-1-4939-8651-4_31
Abstract: Dysferlinopathies are rare genetic diseases affecting muscles due to mutations in DYSF. Exon 32 of DYSF has been shown to be dispensable for dysferlin functions. Here we present a method to visualize the skipping of… read more here.
Keywords: patient cells; biology; skipping patient; dysferlin exon ... See more keywords
Exon Skipping Using Antisense Oligonucleotides for Laminin-Alpha2-Deficient Muscular Dystrophy.
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DOI: 10.1007/978-1-4939-8651-4_36
Abstract: Phosphorodiamidate morpholino oligomer (PMO)-mediated exon skipping is among the more promising approaches available for the treatment of several neuromuscular disorders, including Duchenne muscular dystrophy. The main weakness of this treatment arises from the low efficiency… read more here.
Keywords: muscle; laminin alpha2; muscular dystrophy; pmo ... See more keywords
Tips to Design Effective Splice-Switching Antisense Oligonucleotides for Exon Skipping and Exon Inclusion.
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DOI: 10.1007/978-1-4939-8651-4_5
Abstract: Antisense-mediated exon skipping and exon inclusion have proven to be powerful tools for treating neuromuscular diseases. The approval of Exondys 51 (eteplirsen) and Spinraza (nusinersen) for the treatment of patients with Duchenne muscular dystrophy (DMD)… read more here.
Keywords: exon inclusion; exon skipping; skipping exon; muscular dystrophy ... See more keywords
Quantitative Evaluation of Exon Skipping in Immortalized Muscle Cells In Vitro.
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DOI: 10.1007/978-1-4939-8651-4_7
Abstract: Exon skipping through the use of antisense oligonucleotides (AOs) is currently one of the most promising approaches for treating Duchenne muscular dystrophy (DMD). While we now have a number of AO drug candidates in clinical… read more here.
Keywords: dmd; muscle cells; exon; exon skipping ... See more keywords
Tepotinib for advanced non-small-cell lung cancer with MET exon 14 skipping mutations
Sign Up to like & getrecommendations! Published in 2022 at "ESMO Open"
DOI: 10.1016/j.esmoop.2022.100449
Abstract: On 16 December 2021, the Committee for Medicinal Products for Human Use (CHMP) issued a positive opinion, recommending a marketing authorisation for tepotinib (Tepmetko, Merck KGaA, Darmstadt, Germany), an oral, highly selective mesenchymaleepithelial transition (MET)… read more here.
Keywords: skipping mutations; met gene; cell; lung cancer ... See more keywords
Highly sensitive screening of antisense sequences for different types of DMD mutations in patients' urine-derived cells
Sign Up to like & getrecommendations! Published in 2021 at "Journal of the Neurological Sciences"
DOI: 10.1016/j.jns.2021.117337
Abstract: Exon skipping using short antisense oligonucleotides (AONs) is a promising treatment for Duchenne muscular dystrophy (DMD). Several exon-skipping drugs, including viltolarsen (NS-065/NCNP-01), have been approved worldwide. Immortalized human skeletal muscle cell lines, such as rhabdomyosarcoma… read more here.
Keywords: rhabdomyosarcoma cells; highly sensitive; derived cells; exon skipping ... See more keywords