Results 101 to 110 of about 3,932,181 (346)

Heterozygous loss‐of‐function alleles associate the conserved 3′‐5′ exoribonuclease EXOSC10 with hypersensitivity to the anticancer drug 5‐fluorouracil

Molecular Oncology, EarlyView.
EXOSC10, an essential nuclear RNA exosome‐associated 3′‐5′ exoribonuclease, is inhibited by the anticancer drug 5‐fluorouracil (5‐FU), and EXOSC10 depletion increases 5‐FU sensitivity. The colon‐cancer variant EXOSC10S402T, located in a proteolysis motif, is stable and nuclear but nonfunctional in vivo.
Radhika Sain, Yann Le Page, Frédéric Percevault, Emmanuelle Becker, Luc Negroni, Almudena Fernandez, Marta Cantero, Diego Muñoz‐Santos, Lluís Montoliu, Cyrille Garnier, Michael Primig   +10 more
wiley   +1 more source

Alternative splicing and extensive RNA editing of human TPH2 transcripts. [PDF]

, 2010
Brain serotonin (5-HT) neurotransmission plays a key role in the regulation of mood and has been implicated in a variety of neuropsychiatric conditions. Tryptophan hydroxylase (TPH) is the rate-limiting enzyme in the biosynthesis of 5-HT.
Bondy, Brigitta, Bondy, B., Baghai Thomas C., Brigitta Bondy, Peter Zill, Zill, P., Schüle Cornelius, Hammer, P., Grohmann Maik, Büttner, A., Walther Maria, Priller, Josef, Hammer Paul, Baghai, Thomas C., Maik Grohmann, Wolfgang Eisenmenger, Baghai, T., Priller Josef, Josef Priller, Walther, D.J., Eisenmenger, Wolfgang, Bader, Michael, Zill, Peter, Paul Hammer, Hammer, Paul, Rupprecht Rainer, Büttner, Andreas, Michael Bader, Andreas Büttner, Diego J Walther, Cornelius Schüle, Paulmann, Nils, Zill Peter, Bader Michael, Eisenmenger, W., Schüle, Cornelius, Maria Walther, Rainer Rupprecht, Thomas C Baghai, Paulmann Nils, Schuele, C., Walther, Diego J., Rupprecht, R., Nils Paulmann, Baghai, T.C., Eisenmenger Wolfgang, Walther, Maria, Grohmann, M., Bondy Brigitta, Walther Diego J., Bader, M., Priller, J., Paulmann, N., Büttner Andreas, Walther, M., Grohmann, Maik, Rupprecht, Rainer, Schüle, C., Walther, D., Buettner, A.   +59 more
core   +1 more source

An alternative definition of splicing

Theoretical Computer Science, 2006
zbMATH Open Web Interface contents unavailable due to conflicting licenses.
openaire   +1 more source

Interpreting the effects of DNA polymerase variants at the structural level

Molecular Oncology, EarlyView.
Using MAVISp and molecular dynamics simulations, we analyzed over 60 000 missense variants in POLE and POLD1 from ClinVar, COSMIC, cBioPortal, and saturation mutagenesis. Identified mechanistic indicators, including stability, binding, and long‐range, enable structural interpretation, providing ACMG‐like evidence for possible reclassification of VUS ...
Matteo Arnaudi, Karolina Krzesińska, Ludovica Beltrame, Pablo Sánchez‐Izquierdo Besora, Matteo Tiberti, Mef Nilbert, Anna Rohlin, Elena Papaleo   +7 more
wiley   +1 more source

Cell-specific exon methylation and CTCF binding in neurons regulate calcium ion channel splicing and function

eLife, 2020
Cell-specific alternative splicing modulates myriad cell functions and is disrupted in disease. The mechanisms governing alternative splicing are known for relatively few genes and typically focus on RNA splicing factors.
Eduardo Javier López Soto, Diane Lipscombe   +1 more
doaj   +1 more source

Crosstalk between m6A modification and alternative splicing during cancer progression

Clinical and Translational Medicine, 2023
Background N6‐methyladenosine (m6A), the most prevalent internal mRNA modification in eukaryotes, is added by m6A methyltransferases, removed by m6A demethylases and recognised by m6A‐binding proteins.
Zhi‐Man Zhu, Fu‐Chun Huo, Jian Zhang, Hong‐Jian Shan, Dong‐Sheng Pei   +4 more
doaj   +1 more source

Predicting the Impact of Alternative Splicing on Plant MADS Domain Protein Function

, 2012
Several genome-wide studies demonstrated that alternative splicing (AS) significantly increases the transcriptome complexity in plants. However, the impact of AS on the functional diversity of proteins is difficult to assess using genome-wide approaches.
Morabito, G., Dijk, A.D.J., van, Severing, E.I., Busscher-Lange, J., Ham, R.C.H.J., van, Immink, G.H.   +5 more
core   +1 more source

Alternative splicing: The lord of the rings

Nature Plants, 2017
Fil: Ariel, Federico Damian. Consejo Nacional de Investigaciones Cientificas y Tecnicas. Centro Cientifico Tecnologico Conicet - Santa Fe. Instituto de Agrobiotecnologia del Litoral. Universidad Nacional del Litoral.
Ariel, Federico, Crespi, Martin
openaire   +5 more sources

Oncogenic DMTF1β promotes cancer cell motility by regulating autophagy through ULK1 stabilization

Molecular Oncology, EarlyView.
In the current study, we demonstrate that the oncogene DMTF1β regulates ULK1 stability by reducing its proteasomal degradation in cancer cells. This stabilization enables ULK1 to induce autophagy, which in turn facilitates cancer cell migration. Consequently, reduced DMTF1β levels lead to decreased autophagy and impaired cancer cell migration.
Jun Xu, Nicolas J. Niklaus, Anna M. Schläfli, Igor Tokarchuk, Magali Humbert, Federico La Manna, Bich Vu, David Maul, Ramin Radpour, Marianna Kruithof‐de Julio, Inti Zlobec, Jörn Dengjel, Bruce E. Torbett, Mario P. Tschan   +13 more
wiley   +1 more source

Therapeutic potential of alternative splicing in cardiovascular diseases

EBioMedicine
Summary: RNA splicing is an important RNA processing step required by multiexon protein-coding mRNAs and some noncoding RNAs. Precise RNA splicing is required for maintaining gene and cell function; however, mis-spliced RNA transcripts can lead to loss ...
Jun Cao, Ziyu Wei, Yu Nie, Hou-Zao Chen
doaj   +1 more source