Results 71 to 80 of about 419,485 (330)

A spotter’s guide to SNPtic exons: The common splice variants underlying some SNP–phenotype correlations

Molecular Genetics & Genomic Medicine, 2022
Background Cryptic exons are typically characterised as deleterious splicing aberrations caused by deep intronic mutations. However, low‐level splicing of cryptic exons is sometimes observed in the absence of any pathogenic mutation.
Niall Patrick Keegan, Sue Fletcher
doaj   +1 more source

ShcD adaptor protein drives invasion of triple negative breast cancer cells by aberrant activation of EGFR signaling

Molecular Oncology, EarlyView.
We identified adaptor protein ShcD as upregulated in triple‐negative breast cancer and found its expression to be correlated with reduced patient survival and increased invasion in cell models. Using a proteomic screen, we identified novel ShcD binding partners involved in EGFR signaling pathways.
Hayley R. Lau, Hayley S. Smith, Begüm Alural, Claire E. Martin, Laura A. New, Manali Tilak, Sara L. Banerjee, Hannah N. Robeson, Nicolas Bisson, Anne‐Claude Gingras, Jasmin Lalonde, Nina Jones   +11 more
wiley   +1 more source

Unusual Intron Conservation near Tissue-Regulated Exons Found by Splicing Microarrays. [PDF]

PLoS Computational Biology, 2006
Alternative splicing contributes to both gene regulation and protein diversity. To discover broad relationships between regulation of alternative splicing and sequence conservation, we applied a systems approach, using oligonucleotide microarrays ...
Charles W Sugnet, Karpagam Srinivasan, Tyson A Clark, Georgeann O'Brien, Melissa S Cline, Hui Wang, Alan Williams, David Kulp, John E Blume, David Haussler, Manuel Ares   +10 more
doaj   +2 more sources

Approaches to Evaluate Whole Exome Sequencing Data That Incorporate Genetic Intolerance Scores for Congenital Anomalies, Including Intronic Regions Adjacent to Exons

Molecular Genetics & Genomic Medicine
Background Whole exome sequencing (WES) aids in diagnosing monogenic diseases, yet > 50% of all cases remain undiagnosed. We aimed to improve diagnostic precision by developing an effective WES‐based strategy for detecting congenital anomalies.
Kosuke Taniguchi, Fuyuki Hasegawa, Yuka Okazaki, Asuka Hori, Hiroko Ogata‐Kawata, Saki Aoto, Ohsuke Migita, Tomoko Kawai, Kazuhiko Nakabayashi, Kohji Okamura, Kana Fukui, Seiji Wada, Katsusuke Ozawa, Yushi Ito, Haruhiko Sago, Kenichiro Hata   +15 more
doaj   +1 more source

Microsatellite Content in 397 Nuclear Exons and Their Flanking Regions in the Fern Family Ophioglossaceae

Plants
Microsatellites or SSRs are small tandem repeats that are 1–6 bp long. They are usually highly polymorphic and form important portions of genomes. They have been extensively analyzed in humans, animals and model plants; however, information from non ...
Darina Koubínová, GoFlag Consortium, Jason R. Grant   +2 more
doaj   +1 more source

Diverse splicing patterns of exonized Alu elements in human tissues. [PDF]

PLoS Genetics, 2008
Exonization of Alu elements is a major mechanism for birth of new exons in primate genomes. Prior analyses of expressed sequence tags show that almost all Alu-derived exons are alternatively spliced, and the vast majority of these exons have low ...
Lan Lin, Shihao Shen, Anne Tye, James J Cai, Peng Jiang, Beverly L Davidson, Yi Xing   +6 more
doaj   +1 more source

Arginyltransferase, Its Specificity, Putative Substrates, Bidirectional Promoter, and Splicing-derived Isoforms [PDF]

, 2006
Substrates of the N-end rule pathway include proteins with destabilizing N-terminal residues. Three of them, Asp, Glu, and (oxidized) Cys, function through their conjugation to Arg, one of destabilizing N-terminal residues that are recognized directly by
Brower, Christopher S., Davydov, Ilia V., Hu, Rong-Gui, Kwon, Yong Tae, Sheng, Jun, Varshavsky, Alexander, Wang, Haiqing, Zhou, Jianmin   +7 more
core   +2 more sources

Exon cloning: immunoenzymatic identification of exons of the chicken lysozyme gene. [PDF]

Proceedings of the National Academy of Sciences, 1982
A 10-kilobase DNA fragment containing exons 1 and 2 of the chicken lysozyme gene has been randomly cleaved with DNase I. After tailing and cloning into the plasmid pUK230, Lac+ colonies were selected. Colonies harboring expressed fragments of the exons could be detected by an immunoenzymatic assay using antibodies against lysozyme.
Rüther, U., Koenen, M., Sippel, A., Müller−Hill, B.   +3 more
openaire   +4 more sources

MET and NF2 alterations confer primary and early resistance to first‐line alectinib treatment in ALK‐positive non‐small‐cell lung cancer

Molecular Oncology, EarlyView.
Alectinib resistance in ALK+ NSCLC depends on treatment sequence and EML4‐ALK variants. Variant 1 exhibited off‐target resistance after first‐line treatment, while variant 3 and later lines favored on‐target mutations. Early resistance involved off‐target alterations, like MET and NF2, while on‐target mutations emerged with prolonged therapy.
Jie Hu, Ning Ding, Xiaobo Xu, Yedan Chen, Yong Zhang, Jingwen Liu, Jiebai Zhou, Hairong Bao, Donghui Zhang, Yijun Song, Yang Shao, Yuanlin Song   +11 more
wiley   +1 more source

Computational prediction of splicing regulatory elements shared by Tetrapoda organisms [PDF]

, 2009
Background: auxiliary splicing sequences play an important role in ensuring accurate and efficient splicing by promoting or repressing recognition of authentic splice sites.
Churbanov, Alexander, Hicks, Chindo, Vořechovský, Igor   +2 more
core   +3 more sources