Transcription-coupled RNA surveillance in human genetic diseases caused by splice site mutations

mRNA quality control goes transcriptional

(2015) Cornelia Kilchert et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

Organizing Principles of Mammalian Nonsense-Mediated mRNA Decay

(2013) Maximilian Wei-Lin Popp et al.   Annual Review of Genetics

Stalled Spliceosomes Are a Signal for RNAi-Mediated Genome Defense

(2013) Phillip A. Dumesic et al.   CELL

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

(2013) Peter D. Stenson et al.   HUMAN GENETICS

Tricellulin deficiency affects tight junction architecture and cochlear hair cells

(2013) Gowri Nayak et al.   JOURNAL OF CLINICAL INVESTIGATION

Tafazzin splice variants and mutations in Barth syndrome

(2013) Susan M. Kirwin et al.   MOLECULAR GENETICS AND METABOLISM

4-thiouridine inhibits rRNA synthesis and causes a nucleolar stress response

(2013) Kaspar Burger et al.   RNA Biology

The Xist lncRNA Exploits Three-Dimensional Genome Architecture to Spread Across the X Chromosome

(2013) J. M. Engreitz et al.   SCIENCE

Co-transcriptional degradation of aberrant pre-mRNA by Xrn2

(2012) Lee Davidson et al.   EMBO JOURNAL

Ultrashort and progressive 4sU-tagging reveals key characteristics of RNA processing at nucleotide resolution

(2012) L. Windhager et al.   GENOME RESEARCH

Rrp6p Controls mRNA Poly(A) Tail Length and Its Decoration with Poly(A) Binding Proteins

(2012) Manfred Schmid et al.   MOLECULAR CELL

The UCSC Genome Browser database: extensions and updates 2013

(2012) Laurence R. Meyer et al.   NUCLEIC ACIDS RESEARCH

Pre-mRNA splicing in disease and therapeutics

(2012) Ravi K. Singh et al.   TRENDS IN MOLECULAR MEDICINE

A Pre-mRNA Degradation Pathway that Selectively Targets Intron-Containing Genes Requires the Nuclear Poly(A)-Binding Protein

(2011) Caroline Lemieux et al.   MOLECULAR CELL

Using positional distribution to identify splicing elements and predict pre-mRNA processing defects in human genes

(2011) K. H. Lim et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Inhibition of eukaryotic translation elongation by cycloheximide and lactimidomycin

(2010) Tilman Schneider-Poetsch et al.   Nature Chemical Biology

A link between nuclear RNA surveillance, the human exosome and RNA polymerase II transcriptional termination

(2010) Sérgio F. de Almeida et al.   NUCLEIC ACIDS RESEARCH

AltAnalyze and DomainGraph: analyzing and visualizing exon expression data

(2010) Dorothea Emig et al.   NUCLEIC ACIDS RESEARCH

Co-transcriptional splicing of constitutive and alternative exons

(2009) A. Pandya-Jones et al.   RNA

XPC initiation codon mutation in xeroderma pigmentosum patients with and without neurological symptoms

(2008) Sikandar G. Khan et al.   DNA REPAIR

A 5′ Splice Site Enhances the Recruitment of Basal Transcription Initiation Factors In Vivo

(2008) Christian Kroun Damgaard et al.   MOLECULAR CELL

Analyzing real-time PCR data by the comparative CT method

(2008) Thomas D Schmittgen et al.   Nature Protocols

Splicing Factors Facilitate RNAi-Directed Silencing in Fission Yeast

(2008) E. H. Bayne et al.   SCIENCE