Results for &quot;&quot;Nonsense Mediated mRNA Decay&quot;&quot;[mesh_terms]

PHIP gene variants with protein modeling, interactions, and clinical phenotypes.

Jordan Dietrich, Merlin G Butler, Olivia J Veatch, Scott Lovell

American journal of medical genetics. Part A 2022;188(2):579-589

Ribosome dynamics and mRNA turnover, a complex relationship under constant cellular scrutiny.

Emiliano P Ricci, David Cluet, Christelle Morris

Wiley interdisciplinary reviews. RNA 2022;12(6):e1658

Nonsense Mutations in Rare and Ultra-Rare Human Disorders: An Overview.

Davide Ricci, Ivana Pibiri, Pietro Salvatore Carollo, Ignazio Fiduccia, Federica Corrao, Emanuele Vitale, Ilenia Cruciata, Alessio Branchini, Laura Lentini

IUBMB life 2025;77(6):e70031

Nonsense-mediated mRNA decay and metal ion homeostasis and detoxification in Saccharomyces cerevisiae.

Bessie W Kebaara, Xinyi Zhang

Biometals : an international journal on the role of metal ions in biology, biochemistry, and medicine 2022;35(6):1145-1156

When "loss-of-function" means proteostasis burden: Thinking again about coding DNA variants.

Claire L Shovlin, Micheala A Aldred

American journal of human genetics 2025;112(1):3-10

A De Novo heterozygous frameshift mutation identified in BCL11B causes neurodevelopmental disorder by whole exome sequencing.

Zhengfeng Xu, Ping Hu, Binbin Shao, Yan Wang, Chunyu Luo, Jianxin Tan, Fengchang Qiao, Chen Wang

Molecular genetics & genomic medicine 2020;7(9):e897

Suppression of Nonsense Mutations by New Emerging Technologies.

Yi-Tao Yu, Hironori Adachi, Pedro Morais

International journal of molecular sciences 2021;21(12):4394

Deciphering HERG mutation in long QT syndrome type 2 using antisense oligonucleotide-mediated techniques: Lessons from cystic fibrosis.

Xuerui Tan, Yongfei Song, Zequn Zheng

Heart rhythm 2023;20(8):1169-1177

Modulation of nonsense mediated decay by rapamycin.

Joanne Bailey, Jeremy R Sanford, Tilman Sanchez-Elsner, Katrin Deinhardt, Sol Katzman, Hanane Ennajdaoui, Miles Rush, Linnea Jansson, Doyle Coyne, Andrew Wallace, Rocio T Martinez-Nunez

Nucleic acids research 2017;45(6):3448-3459

Involvement of non-coding RNAs and transcription factors in the induction of Transglutaminase isoforms by ATRA.

Ornella Franzese, Linda Minotti, Gianluca Aguiari, Fabio Corrà, Carlo Cervellati, Carlo Ferrari, Stefano Volinia, Carlo M Bergamini, Nicoletta Bianchi

Amino acids 2020;51(9):1273-1288

Environment-dependent regulation of spliceosome activity by the LSM2-8 complex in Arabidopsis.

Julio Salinas, Rafael Catalá, David Abia, Carlos Perea-Resa, Tamara Hernández-Verdeja, Cristian Carrasco-López

Nucleic acids research 2017;45(12):7416-7431

Molecular cloning of novel alternatively spliced variants of BCL2L12, a new member of the BCL2 gene family, and their expression analysis in cancer cells.

Andreas Scorilas, Christos K Kontos

Gene 2012;505(1):153-66

TAB2 c.1398dup variant leads to haploinsufficiency and impairs extracellular matrix homeostasis.

Silvia Morlino, Annalucia Carbone, Marco Ritelli, Carmela Fusco, Vincenzo Giambra, Grazia Nardella, Angelantonio Notarangelo, Patrizio Panelli, Gianluigi Mazzoccoli, Nicoletta Zoppi, Paola Grammatico, Emma M Wade, Marina Colombi, Marco Castori, Lucia Micale

Human mutation 2020;40(10):1886-1898

Efficient generation of mutations mediated by CRISPR/Cas9 in the hairy root transformation system of Brassica carinata.

Thomas W Kirchner, Markus Niehaus, Thomas Debener, Manfred K Schenk, Marco Herde

PloS one 2017;12(9):e0185429