Results 111 to 120 of about 645,043 (338)

Multidimensional OMICs reveal ARID1A orchestrated control of DNA damage, splicing, and cell cycle in normal‐like and malignant urothelial cells

Molecular Oncology, EarlyView.
Loss of the frequently mutated chromatin remodeler ARID1A, a subunit of the SWI/SNF cBAF complex, results in less open chromatin, alternative splicing, and the failure to stop cells from progressing through the cell cycle after DNA damage in bladder (cancer) cells. Created in BioRender. Epigenetic regulators, such as the SWI/SNF complex, with important
Rebecca M. Schlösser, Florian Krumbach, Eyleen Corrales, Geoffroy Andrieux, Christian Preisinger, Franziska Liss, Alexandra Golzmann, Melanie Boerries, Kerstin Becker, Ruth Knüchel, Stefan Garczyk, Bernhard Lüscher   +11 more
wiley   +1 more source

tRNA ligase structure reveals kinetic competition between non-conventional mRNA splicing and mRNA decay. [PDF]

, 2019
Yeast tRNA ligase (Trl1) is an essential trifunctional enzyme that catalyzes exon-exon ligation during tRNA biogenesis and the non-conventional splicing of HAC1 mRNA during the unfolded protein response (UPR).
Peschek, Jirka, Walter, Peter
core  

Correction to the pathogenic alternative splicing, caused by the common GNB3 c.825C>T allele, using a novel, antisense morpholino [PDF]

, 2016
The very common GNB3 c.825C>T polymorphism (rs5443), is present in approximately half of all human chromosomes. Significantly the presence of the GNB3 825T allele has been strongly associated, with predisposition to essential hypertension ...
Lester, Douglas H., McGlinchey, Jonathan C. P., Tummala, Hemanth   +2 more
core   +3 more sources

Accurate clinical detection of exon copy number variants in a targeted NGS panel using DECoN [version 1; referees: 2 approved]

Wellcome Open Research, 2016
Background: Targeted next generation sequencing (NGS) panels are increasingly being used in clinical genomics to increase capacity, throughput and affordability of gene testing.
Anna Fowler, Shazia Mahamdallie, Elise Ruark, Sheila Seal, Emma Ramsay, Matthew Clarke, Imran Uddin, Harriet Wylie, Ann Strydom, Gerton Lunter, Nazneen Rahman   +10 more
doaj   +1 more source

Exon Skipping Therapy

Cell, 2016
Exondys 51 is the first therapy for Duchenne muscular dystrophy (DMD) to have been granted accelerated approval by the FDA. Approval was granted based on using dystrophin expression as a surrogate marker. Exondys 51 targets DMD exon 51 for skipping to restore the reading frame for 13% of Duchenne patients.
Courtney S. Young, April D. Pyle
openaire   +3 more sources

Assembly and mobility of exon–exon junction complexes in living cells [PDF]

RNA, 2009
The exon–exon junction complex (EJC) forms via association of proteins during splicing of mRNA in a defined manner. Its organization provides a link between biogenesis, nuclear export, and translation of the transcripts. The EJC proteins accumulate in nuclear speckles alongside most other splicing-related factors.
Malte Wachsmuth, Kang-Bin Im, Peter Lichter, Karsten Rippe, Ute Schmidt, Carola Benzing, Snjezana Janjetovic   +6 more
openaire   +3 more sources

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

Identification of a novel TSC2 c.3610G > A, p.G1204R mutation contribute to aberrant splicing in a patient with classical tuberous sclerosis complex: a case report [PDF]

, 2018
Background: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by hamartomas in any organ systems. Mutations in the TSC1 or TSC2 gene lead to the dysfunction of hamartin or tuberin proteins, which cause tuberous sclerosis ...
Bottillo, I, Han, Y, Lang, Y, Liu, X, Shao, L., Wang, J, Wang, Q, Zhang, R   +7 more
core   +2 more sources

An anciently diverged family of RNA binding proteins maintain correct splicing of a class of ultra-long exons through cryptic splice site repression

eLife
Previously, we showed that the germ cell-specific nuclear protein RBMXL2 represses cryptic splicing patterns during meiosis and is required for male fertility (Ehrmann et al., 2019).
Chileleko Siachisumo, Sara Luzzi, Saad Aldalaqan, Gerald Hysenaj, Caroline Dalgliesh, Kathleen Cheung, Matthew R Gazzara, Ivaylo D Yonchev, Katherine James, Mahsa Kheirollahi Chadegani, Ingrid E Ehrmann, Graham R Smith, Simon J Cockell, Jennifer Munkley, Stuart A Wilson, Yoseph Barash, David J Elliott   +16 more
doaj   +1 more source

Discovery of tissue-specific exons using comprehensive human exon microarrays [PDF]

Genome Biology, 2007
Abstract Background Higher eukaryotes express a diverse population of messenger RNAs generated by alternative splicing. Large-scale methods for monitoring gene expression must adapt in order to accurately detect the transcript variation generated by this splicing.
Anthony C. Schweitzer, John E. Blume, Alan Williams, Tina X. Chen, Tyson A. Clark, Michelle K. Staples, Hui Wang, Gang Lu   +7 more
openaire   +3 more sources