Results 81 to 90 of about 645,043 (338)

Exons, Introns, and DNA Thermodynamics [PDF]

Physical Review Letters, 2005
4 pages, 8 figures - Final version as published. See also Phys. Rev.
Carlon, Enrico, Malki, Mehdi Lejard, Blossey, Ralf   +2 more
openaire   +7 more sources

MET variants with activating N‐lobe mutations identified in hereditary papillary renal cell carcinomas still require ligand stimulation

Molecular Oncology, EarlyView.
MET variants in the N‐lobe of the kinase domain, found in hereditary papillary renal cell carcinoma, require ligand stimulation to promote cell transformation, in contrast to other RTK variants. This suggests that HGF expression in the microenvironment is important for tumor growth in such patients. Their sensitivity to MET inhibitors opens the way for
Célia Guérin, Audrey Vinchent, Marie Fernandes, Isabelle Damour, Agathe Laratte, Rémi Tellier, Gabriella O. Estevam, Jean‐Pascal Meneboo, Céline Villenet, Clotilde Descarpentries, James S. Fraser, Martin Figeac, Alexis B. Cortot, Etienne Rouleau, David Tulasne   +14 more
wiley   +1 more source

A unified mechanism for intron and exon definition and back-splicing. [PDF]

, 2019
The molecular mechanisms of exon definition and back-splicing are fundamental unanswered questions in pre-mRNA splicing. Here we report cryo-electron microscopy structures of the yeast spliceosomal E complex assembled on introns, providing a view of the ...
Cui, Yanxiang, Das, Rhiju, Espinosa, Sara, Hansen, Kirk C, Hill, Ryan C, Issaian, Aaron, Kappel, Kalli, Li, Xueni, Liu, Shiheng, Shi, Shasha, Zhang, Lingdi, Zhao, Rui, Zhou, Z Hong   +12 more
core  

Expression of the plasma prekallikrein gene: utilization of multiple transcription start sites and alternative promoter regions [PDF]

, 2005
The plasma prekallikrein gene is expressed in many different human tissues at distinctly different levels and therefore tissue-specific control of the gene transcription is likely.
Akita, Bhoola, Colman, Davie, DiScipio, Hauert, Ichinose, Motta, Motta, Neth, Schapira, Smale, Suzuki   +12 more
core   +1 more source

Prime editing strategies to mediate exon skipping in DMD gene

Frontiers in Medicine, 2023
Duchenne muscular dystrophy is a rare and lethal hereditary disease responsible for progressive muscle wasting due to mutations in the DMD gene. We used the CRISPR-Cas9 Prime editing technology to develop different strategies to correct frameshift ...
Cedric Happi Mbakam, Cedric Happi Mbakam, Jeanne Roustant, Joel Rousseau, Joel Rousseau, Pouire Yameogo, Pouire Yameogo, Yaoyao Lu, Yaoyao Lu, Anne Bigot, Kamel Mamchaoui, Vincent Mouly, Gabriel Lamothe, Gabriel Lamothe, Jacques P. Tremblay, Jacques P. Tremblay   +15 more
doaj   +1 more source

Splicing of designer exons informs a biophysical model for exon definition [PDF]

RNA, 2014
Pre-mRNA molecules in humans contain mostly short internal exons flanked by longer introns. To explain the removal of such introns, exon recognition instead of intron recognition has been proposed. We studied this exon definition using designer exons (DEs) made up of three prototype modules of our own design: an exonic splicing enhancer (ESE), an ...
Mauricio A. Arias, Ashira Lubkin, Lawrence A. Chasin   +2 more
openaire   +3 more sources

Analysis of comprehensive genomic profiling of solid tumors with a novel assay for broad analysis in clinical diagnostics

Molecular Oncology, EarlyView.
In molecular cancer diagnostics, comprehensive genomic profiling (CGP) is going to replace the small NGS panels since it provides all clinically relevant somatic variants as well as genomic biomarkers with clinical value. Here, we compared two CGP assays and demonstrate that the choice for diagnostic implementation will depend on the specific ...
Guy Froyen, Pieter‐Jan Volders, Ellen Geerdens, Severine Berden, Joni Van der Meulen, Aaron De Cock, Stefanie Vermeire, Jacques Van Huysse, Marie de Barsy, Gabriela Beniuga, Wendy W. J. de Leng, Anne M. L. Jansen, Imke Demers, Zeliha Ozgur, Hendrikus Jan Dubbink, Ernst‐Jan M. Speel, Wilfred F. J. van IJcken, Brigitte Maes   +17 more
wiley   +1 more source

Investigating synthetic oligonucleotide targeting of miR31 in Duchenne muscular dystrophy [PDF]

, 2016
Exon-skipping via synthetic antisense oligonucleotides represents one of the most promising potential therapies for Duchenne muscular dystrophy (DMD), yet this approach is highly sequence-specific and thus each oligonucleotide is of benefit to only a ...
Hildyard, J C W, Wells, D J
core   +1 more source

Survival Analysis of Lung Adenocarcinoma Patients with Exon 19 Del and 21 L858R Mutations Receiving EGFR-TKI Treatment

Jurnal Respirasi, 2023
Introduction: Patients with adenocarcinoma of the lung that have a common EGFR mutation, the Exon 19 Del mutation, survive better than those with the Exon 21 L858R mutation.
Stephen Johan Prasetyo, Noni Novisari Soeroso, Setia Putra Tarigan, Erna Mutiara, Novia Nurul Faizah   +4 more
doaj   +1 more source

ExInt: an Exon/Intron database [PDF]

Nucleic Acids Research, 2000
The Exon/Intron (ExInt) database incorporates information on the exon/intron structure of eukaryotic genes. Features in the database include: intron nucleotide sequence, amino acid sequence of the corresponding protein, position of the introns at the amino acid level and intron phase.
Sakharkar, M., Passetti, F., De Souza, J.E., Long, M., De Souza, S.J.   +4 more
openaire   +4 more sources