Results 61 to 70 of about 240,839 (324)

The role of transposable elements in the evolution of non-mammalian vertebrates and invertebrates [PDF]

Genome Biology 2010, 11:R59, 2010
Background: Transposable elements (TEs) have played an important role in the diversification and enrichment of mammalian transcriptomes through various mechanisms such as exonization and intronization (the birth of new exons/introns from previously intronic/exonic sequences, respectively), and insertion into first and last exons.
arxiv   +1 more source

Evaluation of the Pharmacokinetic Drug Interaction of Capmatinib With Itraconazole and Rifampicin and Potential Impact on Renal Transporters in Healthy Subjects

The Journal of Clinical Pharmacology, Volume 63, Issue 2, Page 228-238, February 2023., 2023
Abstract Capmatinib is a highly specific, potent, and selective mesenchymal–epithelial transition factor inhibitor predominantly eliminated by cytochrome P450 (CYP) 3A4 and aldehyde oxidase. Here, we investigated the effects of a strong CYP3A inhibitor (itraconazole) and a strong CYP3A inducer (rifampicin) on single‐dose pharmacokinetics of capmatinib.
Xiaoming Cui, Xinhui Chen, Nathalie Pognan, Tirtha Sengupta, Gholamreza Rahmanzadeh, Ruediger Kornberger, Monica Giovannini   +6 more
wiley   +1 more source

Clinical significance of ERBB2 exon 16 skipping: analysis of a real-world retrospective observational cohort study

ESMO Open, 2020
Background ERBB2 exon 16 skipping is an alternatively spliced isoform of ERBB2, which was reported to lead to oncogenic activation of ERBB2 and could potentially cause tyrosine kinase inhibitor (TKI) resistance in non-small cell lung cancer (NSCLC) in ...
Xue Wu, Lei Shi, Yang Shao, Caihua Xu, Yutong Ma, Qiuxiang Ou, Songhua Lu, Renhua Guo, Jinliang Kong   +8 more
doaj   +1 more source

SERpredict: Detection of tissue- or tumor-specific isoforms generated through exonization of transposable elements [PDF]

BMC Genetics 2007 8:78, 2008
Background: Transposed elements (TEs) are known to affect transcriptomes, because either new exons are generated from intronic transposed elements (this is called exonization), or the element inserts into the exon, leading to a new transcript. Several examples in the literature show that isoforms generated by an exonization are specific to a certain ...
arxiv   +1 more source

A BRCA1 Nonsense Mutation Causes Exon Skipping [PDF]

The American Journal of Human Genetics, 1998
The authors would like to thank the family members. We also thank C. Bonnardel, L. Boutrand, T. Conway, J. Lynch, S. Slominski, and P. Watson, for their expert assistance. This work was supported by program grants from le Comite Departemental de l'Ain de La Ligue contre le Cancer, the Council for Tobacco Research (grant 127DR@), the U.S.
Henry T. Lynch, Nadine Puget, Nadine Puget, Laure Perrin-Vidoz, Gilbert M. Lenoir, Gilbert M. Lenoir, Olga M. Serova-Sinilnikova, Olga M. Serova-Sinilnikova, Sylvie Mazoyer, Sylvie Mazoyer   +9 more
openaire   +3 more sources

Development of an exon skipping therapy for X-linked Alport syndrome with truncating variants in COL4A5

Nature Communications, 2020
Currently, there are no treatments for Alport syndrome, which is the second most commonly inherited kidney disease. Here we report the development of an exon-skipping therapy using an antisense-oligonucleotide (ASO) for severe male X-linked Alport ...
Tomohiko Yamamura, T. Horinouchi, Tomomi Adachi, M. Terakawa, Y. Takaoka, K. Omachi, M. Takasato, K. Takaishi, Takao Shoji, Yoshiyuki Onishi, Yoshito Kanazawa, M. Koizumi, Y. Tomono, A. Sugano, A. Shono, Shogo Minamikawa, C. Nagano, Nana Sakakibara, Shinya Ishiko, Y. Aoto, Misato Kamura, Y. Harita, K. Miura, Shoichiro Kanda, N. Morisada, Rini Rossanti, M. Ye, Yoshimi Nozu, M. Matsuo, H. Kai, K. Iijima, K. Nozu   +31 more
semanticscholar   +1 more source

Biased exonization of transposed elements in duplicated genes: A lesson from the TIF-IA gene [PDF]

BMC Molecular Biology 2007, 8:109, 2008
Background: Gene duplication and exonization of intronic transposed elements are two mechanisms that enhance genomic diversity. We examined whether there is less selection against exonization of transposed elements in duplicated genes than in single-copy genes.
arxiv   +1 more source

Compound heterozygous loss‐of‐function variants in BRAT1 cause lethal neonatal rigidity and multifocal seizure syndrome

Molecular Genetics &Genomic Medicine, Volume 11, Issue 1, January 2023., 2023
Trio‐based whole‐exome sequencing (WES) and Sanger sequencing identified a novel splicing mutation c.431‐2A>G and a heterozygous truncating mutation c.1359_1361del in BRAT1 in the proband. In addition, our research demonstrated the intronic mutation could lead to aberrant mRNA splicing and further contributed to a better understanding and establishment
Shan Li, Shunan Yu, Yanzhuo Zhang, Ying Wang, Xu Jiang, Chengai Wu   +5 more
wiley   +1 more source

Antisense-induced exon skipping for duplications in Duchenne muscular dystrophy

BMC Medical Genetics, 2007
Background Antisense-mediated exon skipping is currently one of the most promising therapeutic approaches for Duchenne muscular dystrophy (DMD). Using antisense oligonucleotides (AONs) targeting specific exons the DMD reading frame is restored and ...
van Ommen Gert-Jan B, Janson Anneke AM, Aartsma-Rus Annemieke, van Deutekom Judith CT   +3 more
doaj   +1 more source

Alzheimer’s Disease-Associated Alternative Splicing of CD33 Is Regulated by the HNRNPA Family Proteins

Cells, 2023
Genetic variations of CD33 have been implicated as a susceptibility factor of Alzheimer’s disease (AD). A polymorphism on exon 2 of CD33, rs12459419, affects the alternative splicing of this exon.
Riho Komuro, Yuka Honda, Motoaki Yanaizu, Masami Nagahama, Yoshihiro Kino   +4 more
doaj   +1 more source