Results 101 to 110 of about 667,667 (355)

STAT1 activation in association with JAK2 exon 12 mutations [PDF]

, 2015
La inclusión de la perspectiva de género en la actividad jurisdiccional es una demanda sostenida de los colectivos feministas y de mujeres, dado que las sentencias tienen un poder performativo y envían un mensaje a la sociedad: “[…] tienen un poder ...
Godfrey, A.L., Chen, E., Massie, C.E., Silber, Y., Pagano, F., Bellosillo, B., Guglielmelli, P., Harrison, C.N., Reilly, J.T., Stegelmann, F., Bijou, F., Lippert, E., Boiron, J.M., Dohner, K., Vannucchi, A.M., Besses, C., Green, A.R., Godfrey, A.L., Chen, E., Massie, C.E., Silber, Y., Pagano, F., Bellosillo, B., Guglielmelli, P., Harrison, C.N., Reilly, J.T., Stegelmann, F., Bijou, F., Lippert, E., Boiron, J.M., Dohner, K., Vannucchi, A.M., Besses, C., Green, A.R.   +33 more
core   +4 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

Predictors of response and rational combinations for the novel MCL‐1 inhibitor MIK665 in acute myeloid leukemia

Molecular Oncology, EarlyView.
This study characterizes the responses of primary acute myeloid leukemia (AML) patient samples to the MCL‐1 inhibitor MIK665. The results revealed that monocytic differentiation is associated with MIK665 sensitivity. Conversely, elevated ABCB1 expression is a potential biomarker of resistance to the treatment, which can be overcome by the combination ...
Joseph Saad, Rhiannon Newman, Elmira Khabusheva, Sofia Aakko, Eric Durand, Mahesh Tambe, Heikki Kuusanmäki, Alun Parsons, Juho J. Miettinen, Komal Kumar Javarappa, Ezgi June Olgac, Nemo Ikonen, Mika Kontro, Kimmo Porkka, Heiko Maacke, Janghee Woo, Ensar Halilovic, Caroline A. Heckman   +17 more
wiley   +1 more source

Origin of exon skipping-rich transcriptomes in animals driven by evolution of gene architecture

Genome Biology, 2018
Background Alternative splicing, particularly through intron retention and exon skipping, is a major layer of pre-translational regulation in eukaryotes.
Xavier Grau-Bové, Iñaki Ruiz-Trillo, Manuel Irimia   +2 more
doaj   +1 more source

Duplications of KIAA1549 and BRAF screening by Droplet Digital PCR from formalin-fixed paraffin-embedded DNA is an accurate alternative for KIAA1549-BRAF fusion detection in pilocytic astrocytomas [PDF]

, 2018
Pilocytic astrocytomas represent the most common glioma subtype in young patients and account for 5.4% of all gliomas. They are characterized by alterations in the RAS–MAP kinase pathway, the most frequent being a tandem duplication on chromosome 7q34 ...
Appay, Romain, Badiali, Manuela, Barets, Doriane, Colin, Carole, Figarella-Branger, Dominique, Fina, Frédéric, Giangaspero, Felice, Korshunov, Andrey, M. Pfister, Stefan, Macagno, Nicolas, Ordioni, Joanna, Padovani, Laëtitia, Scavarda, Didier, T. W. Jones, David   +13 more
core   +2 more sources

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

Feasibility of a ctDNA multigenic panel for non‐small‐cell lung cancer early detection and disease surveillance

Molecular Oncology, EarlyView.
Plasma‐based detection of actionable mutations is a promising approach in lung cancer management. Analysis of ctDNA with a multigene NGS panel identified TP53, KRAS, and EGFR as the most frequently altered, with TP53 and KRAS in treatment‐naïve patients and TP53 and EGFR in previously treated patients.
Giovanna Maria Stanfoca Casagrande, Marcela de Oliveira Silva, Mariana Bisarro dos Reis, Rodrigo de Oliveira Cavagna, Luciane Sussuchi, Icaro Alves Pinto, Natalia Zampieri Pontes, Rodrigo Sampaio Chiarantano, Flavio Augusto Ferreira da Silva, Pedro de Marchi, Letícia Ferro Leal, Rui M. Reis   +11 more
wiley   +1 more source

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

αCP binding to a cytosine-rich subset of polypyrimidine tracts drives a novel pathway of cassette exon splicing in the mammalian transcriptome. [PDF]

, 2016
Alternative splicing (AS) is a robust generator of mammalian transcriptome complexity. Splice site specification is controlled by interactions of cis-acting determinants on a transcript with specific RNA binding proteins.
Bahrami-Samani, Emad, Duncan-Lewis, Christopher, Ji, Xinjun, Liebhaber, Stephen A, Lin, Lan, Park, Juw Won, Pherribo, Gordon, Xing, Yi   +7 more
core   +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