Results 121 to 130 of about 59,267 (253)

Növényi RNS degradációs rendszerek: a nonsense-mediated decay rendszer molekuláris biológiája = RNA degradation systems in plants: the molecular biology of nonsense-mediated decay system [PDF]

, 2010
A program célja a növényi Nonsense-mediated mRNA decay (NMD) rendszer molekuláris biológiájának megismerése volt. Az NMD egy ősi eukarióta minőségbiztosítási rendszer, amely felismeri és lebontja a korai stop kodonokat (PTC) tartalmazó mRNS-eket, ezáltal
Hangyáné Benkovics, Anna, Kerényi, Zoltán, Mérai, Zsuzsanna, Nyikó, Tünde, Silhavy, Dániel   +4 more
core  

5‐azacytidine inhibits nonsense‐mediated decay in a MYC‐dependent fashion

EMBO Molecular Medicine, 2014
Nonsense‐mediated RNA decay (NMD) is an RNA‐based quality control mechanism that eliminates transcripts bearing premature translation termination codons (PTC).
Madhuri Bhuvanagiri, Joe Lewis, Kerstin Putzker, Jonas P Becker, Stefan Leicht, Jeroen Krijgsveld, Richa Batra, Brad Turnwald, Bogdan Jovanovic, Christian Hauer, Jana Sieber, Matthias W Hentze, Andreas E Kulozik   +12 more
doaj   +1 more source

Integrated high‐resolution copy number and histomolecular analysis of diffuse hemispheric glioma, H3 G34‐mutant reveals universal TP53 abnormalities

Brain Pathology, EarlyView.
This integrated high‐resolution copy number and histomolecular analysis of diffuse hemispheric glioma, H3 G34‐mutant expands the spectrum of associated genetic changes and underscores the presence of universal TP53 abnormalities at copy number, sequence, and protein expression level, with frequent yet largely unrecognized TP53 copy‐neutral loss of ...
Jorge A. Trejo‐Lopez, Cinthya Zepeda Mendoza, Thomas M. Kollmeyer, Kristen L. Drucker, Vanessa M. Pazdernik, Paul A. Decker, Corinne E. Praska, Jayson Hardcastle, Stephanie Smoley, Matthew Isaacson, Mallika Gandham, Surendra Dasari, Aditya Raghunathan, Caterina Giannini, Gang Zheng, Aaron Wagner, M. Beatriz Lopes, Kar‐Ming A. Fung, JoElle G. Peterson, Andreana L. Rivera, Christopher Rossi, Meggen A. Walsh, Zied Abdullaev, Kenneth Aldape, Martha Quezado, Drew Pratt, Patrick Joseph Cimino, Robert B. Jenkins, Cristiane M. Ida   +28 more
wiley   +1 more source

The interplay between mRNA translation and nonsense-mediated decay in AUG-proximal nonsense-mutated transcripts [PDF]

, 2014
Nonsense-mediated mRNA decay (NMD) is a surveillance pathway that recognizes and rapidly degrades mRNAs containing premature termination codons (PTC).
Romão, Luísa
core  

Relationship Between PTBP1 and Pancreatic Cancer Based on microRNA and Behavior During TYMS‐Mediated Carcinogenesis

Cancer Science, EarlyView.
Corresponding Author and colleagues identify a pancreas‐enriched microRNA, miR‐216b‐5p, that suppresses PTBP1 and its downstream effector TYMS. Their findings reveal a novel miR‐216b‐5p/PTBP1/TYMS regulatory axis driving pancreatic cancer progression and establish PTBP1 as a central molecular regulator of tumor biology beyond its metabolic role ...
Shigenori Suzuki, Hiroaki Hase, Yosuke Inomata, Jun Arima, Kentaro Jingushi, Atsushi Tomioka, Nao Kawaguchi, Hiroki Hamamoto, Ryo Tanaka, Yoshiro Imai, Mitsuhiro Asakuma, Tomohito Tanaka, Kazutake Tsujikawa, Kohei Taniguchi, Sang‐Woong Lee   +14 more
wiley   +1 more source

A pan-cancer genome-wide analysis reveals tumour dependencies by induction of nonsense-mediated decay

Nature Communications, 2017
Nonsense-mediated decay (NMD) eliminates transcripts with premature stop codons and has been linked to cancer genesis. Here, the authors develop an algorithm to predict NMD and perform a pan-cancer analysis that finds that some hypermutated cancers are ...
Zhiyuan Hu, Christopher Yau, Ahmed Ashour Ahmed   +2 more
doaj   +1 more source

Deep‐Intronic Variant in RUNX2 Causing Pseudo‐Exon Inclusion in a Family With Cleidocranial Dysplasia

Clinical Genetics, EarlyView.
A deep‐intronic single nucleotide variant in RUNX2 causes the characteristic clinical features of cleidocranial dysplasia (CCD) in a family via pseudo‐exon inclusion into the mRNA. The pseudo‐exon contains a premature stop codon and triggers mRNA decay, which results in RUNX2 haploinsufficiency, the known disease mechanism.
Dorothea Stojanovic, Dorota Garczarczyk‐Asim, Julia Vodopiutz, Andreas R. Janecke   +3 more
wiley   +1 more source

Nonsense-mediated decay machinery in Plasmodium falciparum is inefficient and non-essential. [PDF]

mSphere, 2023
McHugh E, Bulloch MS, Batinovic S, Patrick CJ, Sarna DK, Ralph SA.   +5 more
europepmc   +1 more source

The role of mRNA translation on nonsense-mediated decay inhibition in disorders due to nonsense mutations [PDF]

, 2011
Resumo de apresentação ...
Barbosa, Crsitina, Peixeiro, Isabel, Romão, Luísa, Silva, Ana Luísa   +3 more
core  

The Diagnostic Odyssey of a Biochemically Confirmed Case of ML II: The First Western Patient With LYSET Deficiency

Clinical Genetics, EarlyView.
We identify a female patient with a homozygous nonsense variant (p.Gln38Ter) in the LYSET gene. This is the first western report of a challenging case of an extensive diagnostic odyssey and demonstrates that the LYSET gene must be considered in the differential diagnosis when M6P‐labeled lysosomal enzymes are altered.
Fernanda Sperb‐Ludwig, Taciane Alegra, Leonardo Martinello da Rosa, Nataniel Floriano Ludwig, Renata Voltolini Velho, Ida Vanessa Doederlein Schwartz   +5 more
wiley   +1 more source