RNA mis-splicing in disease
MM Scotti, MS Swanson - Nature Reviews Genetics, 2016 - nature.com
The human transcriptome is composed of a vast RNA population that undergoes further
diversification by splicing. Detecting specific splice sites in this large sequence pool is the …
diversification by splicing. Detecting specific splice sites in this large sequence pool is the …
Deep intronic mutations and human disease
R Vaz-Drago, N Custódio, M Carmo-Fonseca - Human genetics, 2017 - Springer
Next-generation sequencing has revolutionized clinical diagnostic testing. Yet, for a
substantial proportion of patients, sequence information restricted to exons and exon–intron …
substantial proportion of patients, sequence information restricted to exons and exon–intron …
A day in the life of the spliceosome
One of the most amazing findings in molecular biology was the discovery that eukaryotic
genes are discontinuous, with coding DNA being interrupted by stretches of non-coding …
genes are discontinuous, with coding DNA being interrupted by stretches of non-coding …
Frequent pathway mutations of splicing machinery in myelodysplasia
K Yoshida, M Sanada, Y Shiraishi, D Nowak, Y Nagata… - Nature, 2011 - nature.com
Myelodysplastic syndromes and related disorders (myelodysplasia) are a heterogeneous
group of myeloid neoplasms showing deregulated blood cell production with evidence of …
group of myeloid neoplasms showing deregulated blood cell production with evidence of …
Lessons from non-canonical splicing
Recent improvements in experimental and computational techniques that are used to study
the transcriptome have enabled an unprecedented view of RNA processing, revealing many …
the transcriptome have enabled an unprecedented view of RNA processing, revealing many …
Children born small for gestational age: differential diagnosis, molecular genetic evaluation, and implications
MJJ Finken, M van der Steen, CCJ Smeets… - Endocrine …, 2018 - academic.oup.com
Children born small for gestational age (SGA), defined as a birth weight and/or length
below− 2 SD score (SDS), comprise a heterogeneous group. The causes of SGA are …
below− 2 SD score (SDS), comprise a heterogeneous group. The causes of SGA are …
The significant other: splicing by the minor spliceosome
The removal of non‐coding sequences, introns, from the mRNA precursors is an essential
step in eukaryotic gene expression. U12‐type introns are a minor subgroup of introns …
step in eukaryotic gene expression. U12‐type introns are a minor subgroup of introns …
Pre-mRNA splicing in disease and therapeutics
In metazoans, alternative splicing of genes is essential for regulating gene expression and
contributing to functional complexity. Computational predictions, comparative genomics, and …
contributing to functional complexity. Computational predictions, comparative genomics, and …
The spliceosome as a target of novel antitumour drugs
S Bonnal, L Vigevani, J Valcárcel - Nature reviews Drug discovery, 2012 - nature.com
Several bacterial fermentation products and their synthetic derivatives display antitumour
activities and bind tightly to components of the spliceosome, which is the complex molecular …
activities and bind tightly to components of the spliceosome, which is the complex molecular …
Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome
The exon-junction complex (EJC) performs essential RNA processing tasks 1, 2, 3, 4, 5.
Here, we describe the first human disorder, thrombocytopenia with absent radii (TAR) 6 …
Here, we describe the first human disorder, thrombocytopenia with absent radii (TAR) 6 …