To NMD or Not To NMD: Nonsense-Mediated mRNA Decay in Cancer and Other Genetic Diseases

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

Escape from nonsense-mediated decay associates with anti-tumor immunogenicity

(2020) Kevin Litchfield et al.   Nature Communications

Single-Molecule Imaging Uncovers Rules Governing Nonsense-Mediated mRNA Decay

(2019) Tim A. Hoek et al.   MOLECULAR CELL

Quality and quantity control of gene expression by nonsense-mediated mRNA decay

(2019) Tatsuaki Kurosaki et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Advances in cancer immunotherapy 2019 – latest trends

(2019) Stephan Kruger et al.   JOURNAL OF EXPERIMENTAL & CLINICAL CANCER RESEARCH

A dominant-negative effect drives selection of TP53 missense mutations in myeloid malignancies

(2019) Steffen Boettcher et al.   SCIENCE

The impact of nonsense-mediated mRNA decay on genetic disease, gene editing and cancer immunotherapy

(2019) Rik G. H. Lindeboom et al.   NATURE GENETICS

Biological plasticity rescues target activity in CRISPR knock outs

(2019) Arne H. Smits et al.   NATURE METHODS

CRISPR-Cas9-based mutagenesis frequently provokes on-target mRNA misregulation

(2019) Rubina Tuladhar et al.   Nature Communications

Evolution of the nonsense-mediated decay pathway is associated with decreased cytolytic immune infiltration

(2019) Boyang Zhao et al.   PLoS Computational Biology

Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles

(2018) Zeynep Coban-Akdemir et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Targeting nonsense-mediated mRNA decay in colorectal cancers with microsatellite instability

(2018) A’dem Bokhari et al.   Oncogenesis

Insertion-and-deletion-derived tumour-specific neoantigens and the immunogenic phenotype: a pan-cancer analysis

(2017) Samra Turajlic et al.   LANCET ONCOLOGY

Bayesian inference of negative and positive selection in human cancers

(2017) Donate Weghorn et al.   NATURE GENETICS

Simultaneous epitope and transcriptome measurement in single cells

(2017) Marlon Stoeckius et al.   NATURE METHODS

Using ALoFT to determine the impact of putative loss-of-function variants in protein-coding genes

(2017) Suganthi Balasubramanian et al.   Nature Communications

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

(2017) Zhiyuan Hu et al.   Nature Communications

Control of gene expression through the nonsense-mediated RNA decay pathway

(2017) Andrew Nickless et al.   Cell and Bioscience

Allelic imbalance of somatic mutations in cancer genomes and transcriptomes

(2017) Je-Keun Rhee et al.   Scientific Reports

Leveraging Rules of Nonsense-Mediated mRNA Decay for Genome Engineering and Personalized Medicine

(2016) Maximilian W. Popp et al.   CELL

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

The rules and impact of nonsense-mediated mRNA decay in human cancers

(2016) Rik G H Lindeboom et al.   NATURE GENETICS

Transcriptome-wide identification of NMD-targeted human mRNAs reveals extensive redundancy between SMG6- and SMG7-mediated degradation pathways

(2016) Martino Colombo et al.   RNA

Nonsense-mediated mRNA decay: novel mechanistic insights and biological impact

(2016) Evangelos D. Karousis et al.   Wiley Interdisciplinary Reviews-RNA

Polypyrimidine tract binding protein 1 protects mRNAs from recognition by the nonsense-mediated mRNA decay pathway

(2016) Zhiyun Ge et al.   eLife

Integrated genome and transcriptome sequencing of the same cell

(2015) Siddharth S Dey et al.   NATURE BIOTECHNOLOGY

Intron retention is a widespread mechanism of tumor-suppressor inactivation

(2015) Hyunchul Jung et al.   NATURE GENETICS

Gene expression analysis identifies global gene dosage sensitivity in cancer

(2015) Rudolf S N Fehrmann et al.   NATURE GENETICS

Nonsense-mediated mRNA decay: an intricate machinery that shapes transcriptomes

(2015) Søren Lykke-Andersen et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Resistance of mRNAs with AUG-proximal nonsense mutations to nonsense-mediated decay reflects variables of mRNA structure and translational activity

(2015) Francisco J.C. Pereira et al.   NUCLEIC ACIDS RESEARCH

Identification of elements in human long 3′ UTRs that inhibit nonsense-mediated decay

(2015) Kalodiah G. Toma et al.   RNA

Effect of predicted protein-truncating genetic variants on the human transcriptome

(2015) M. A. Rivas et al.   SCIENCE

Identification and characterization of essential genes in the human genome

(2015) T. Wang et al.   SCIENCE

Identification and Characterization of Small Molecules That Inhibit Nonsense-Mediated RNA Decay and Suppress Nonsense p53 Mutations

(2014) L. Martin et al.   CANCER RESEARCH

Synonymous Mutations Frequently Act as Driver Mutations in Human Cancers

(2014) Fran Supek et al.   CELL

Nonsense-mediated decay in genetic disease: Friend or foe?

(2014) Jake N. Miller et al.   MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH

Rational design of highly active sgRNAs for CRISPR-Cas9–mediated gene inactivation

(2014) John G Doench et al.   NATURE BIOTECHNOLOGY

Tug-of-war between driver and passenger mutations in cancer and other adaptive processes

(2014) Christopher D. McFarland et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Dissecting Disease Inheritance Modes in a Three-Dimensional Protein Network Challenges the “Guilt-by-Association” Principle

(2013) Yu Guo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Patients With Colorectal Tumors With Microsatellite Instability and Large Deletions in HSP110 T17 Have Improved Response to 5-Fluorouracil–Based Chemotherapy

(2013) Ada Collura et al.   GASTROENTEROLOGY

Transcriptome and genome sequencing uncovers functional variation in humans

(2013) Tuuli Lappalainen et al.   NATURE

In situ sequencing for RNA analysis in preserved tissue and cells

(2013) Rongqin Ke et al.   NATURE METHODS

Early LQT2 nonsense mutation generates N-terminally truncated hERG channels with altered gating properties by the reinitiation of translation

(2012) Matthew R. Stump et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Rescue of nonsense mutations by amlexanox in human cells

(2012) Sara Gonzalez-Hilarion et al.   Orphanet Journal of Rare Diseases

Identification of hundreds of novel UPF1 target transcripts by direct determination of whole transcriptome stability

(2012) Hidenori Tani et al.   RNA Biology

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

(2012) D. G. MacArthur et al.   SCIENCE

A whole-genome analysis of premature termination codons

(2011) Elizabeth T. Cirulli et al.   GENOMICS

Inhibition of Nonsense-Mediated RNA Decay by the Tumor Microenvironment Promotes Tumorigenesis

(2011) D. Wang et al.   MOLECULAR AND CELLULAR BIOLOGY

Expression of a mutant HSP110 sensitizes colorectal cancer cells to chemotherapy and improves disease prognosis

(2011) Coralie Dorard et al.   NATURE MEDICINE

Rare and Common Regulatory Variation in Population-Scale Sequenced Human Genomes

(2011) Stephen B. Montgomery et al.   PLoS Genetics

Induction of tumour immunity by targeted inhibition of nonsense-mediated mRNA decay

(2010) Fernando Pastor et al.   NATURE

A meta-analysis of nonsense mutations causing human genetic disease

(2008) Matthew Mort et al.   HUMAN MUTATION