Hallmarks of ribosomopathies

KR Kampen, SO Sulima, S Vereecke… - Nucleic acids …, 2020 - academic.oup.com
Ribosomopathies are diseases caused by defects in ribosomal constituents or in factors with
a role in ribosome assembly. Intriguingly, congenital ribosomopathies display a paradoxical …

Ribosomopathies: human disorders of ribosome dysfunction

A Narla, BL Ebert - Blood, The Journal of the American Society …, 2010 - ashpublications.org
Ribosomopathies compose a collection of disorders in which genetic abnormalities cause
impaired ribosome biogenesis and function, resulting in specific clinical phenotypes …

The highways and byways of mRNA decay

NL Garneau, J Wilusz, CJ Wilusz - Nature reviews Molecular cell …, 2007 - nature.com
When considering the control of gene expression, the focus has traditionally been on
transcriptional regulation. Recently, however, the large contribution made by mRNA decay …

Computational tools for prioritizing candidate genes: boosting disease gene discovery

Y Moreau, LC Tranchevent - Nature Reviews Genetics, 2012 - nature.com
At different stages of any research project, molecular biologists need to choose—often
somewhat arbitrarily, even after careful statistical data analysis—which genes or proteins to …

The expanding RNA polymerase III transcriptome

G Dieci, G Fiorino, M Castelnuovo, M Teichmann… - TRENDS in …, 2007 - cell.com
The role of RNA polymerase (Pol) III in eukaryotic transcription is commonly thought of as
being restricted to a small set of highly expressed, housekeeping non–protein-coding (nc) …

Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation

A Rauch, J Hoyer, S Guth, C Zweier… - American journal of …, 2006 - Wiley Online Library
The underlying cause of mental retardation remains unknown in up to 80% of patients. As
chromosomal aberrations are the most common known cause of mental retardation, several …

Inactivation of the tumor suppressor p53 by long noncoding RNA RMRP

Y Chen, Q Hao, S Wang, M Cao… - Proceedings of the …, 2021 - National Acad Sciences
p53 inactivation is highly associated with tumorigenesis and drug resistance. Here, we
identify a long noncoding RNA, the RNA component of mitochondrial RNA-processing …

The modular nature of genetic diseases

M Oti, HG Brunner - Clinical genetics, 2007 - Wiley Online Library
Evidence from many sources suggests that similar phenotypes are begotten by functionally
related genes. This is most obvious in the case of genetically heterogeneous diseases such …

Improving the diagnostic yield of exome-sequencing by predicting gene–phenotype associations using large-scale gene expression analysis

P Deelen, S van Dam, JC Herkert… - Nature …, 2019 - nature.com
The diagnostic yield of exome and genome sequencing remains low (8–70%), due to
incomplete knowledge on the genes that cause disease. To improve this, we use RNA-seq …

RNA polymerase III transcription as a disease factor

M Yeganeh, N Hernandez - Genes & development, 2020 - genesdev.cshlp.org
RNA polymerase (Pol) III is responsible for transcription of different noncoding genes in
eukaryotic cells, whose RNA products have well-defined functions in translation and other …