Regulation of ribosomal RNA gene copy number, transcription and nucleolus organization in eukaryotes
One of the first biological machineries to be created seems to have been the ribosome.
Since then, organisms have dedicated great efforts to optimize this apparatus. The …
Since then, organisms have dedicated great efforts to optimize this apparatus. The …
Nucleolar stress: From development to cancer
MC Lafita-Navarro, M Conacci-Sorrell - Seminars in cell & developmental …, 2023 - Elsevier
The nucleolus is a large nuclear membraneless organelle responsible for ribosome
biogenesis. Ribosomes are cytoplasmic macromolecular complexes comprising RNA and …
biogenesis. Ribosomes are cytoplasmic macromolecular complexes comprising RNA and …
Identification of rare and common regulatory variants in pluripotent cells using population-scale transcriptomics
Induced pluripotent stem cells (iPSCs) are an established cellular system to study the impact
of genetic variants in derived cell types and developmental contexts. However, in their …
of genetic variants in derived cell types and developmental contexts. However, in their …
Genetic susceptibility loci in genomewide association study of cluster headache
AVE Harder, BS Winsvold, R Noordam… - Annals of …, 2021 - Wiley Online Library
Objective Identifying common genetic variants that confer genetic risk for cluster headache.
Methods We conducted a case–control study in the Dutch Leiden University Cluster …
Methods We conducted a case–control study in the Dutch Leiden University Cluster …
RNA polymerases I and III in development and disease
KEN Watt, J Macintosh, G Bernard… - Seminars in cell & …, 2023 - Elsevier
Ribosomes are macromolecular machines that are globally required for the translation of all
proteins in all cells. Ribosome biogenesis, which is essential for cell growth, proliferation …
proteins in all cells. Ribosome biogenesis, which is essential for cell growth, proliferation …
Cryo-EM structures of human RNA polymerase I
Abstract RNA polymerase I (Pol I) specifically synthesizes ribosomal RNA. Pol I upregulation
is linked to cancer, while mutations in the Pol I machinery lead to developmental disorders …
is linked to cancer, while mutations in the Pol I machinery lead to developmental disorders …
Dynamic regulation and requirement for ribosomal RNA transcription during mammalian development
KT Falcon, KEN Watt, S Dash, R Zhao… - Proceedings of the …, 2022 - National Acad Sciences
Ribosomal RNA (rRNA) transcription by RNA polymerase I (Pol I) is a critical rate-limiting
step in ribosome biogenesis, which is essential for cell survival. Despite its global function …
step in ribosome biogenesis, which is essential for cell survival. Despite its global function …
A systematic review on Treacher Collins syndrome: Correlation between molecular genetic findings and clinical severity
Abstract Treacher Collins syndrome (TCS, OMIM: 154500) is a rare congenital craniofacial
disorder that is caused by variants in the genes TCOF1, POLR1D, POLR1C, and POLR1B …
disorder that is caused by variants in the genes TCOF1, POLR1D, POLR1C, and POLR1B …
How altered ribosome production can cause or contribute to human disease: the spectrum of ribosomopathies
G Venturi, L Montanaro - Cells, 2020 - mdpi.com
A number of different defects in the process of ribosome production can lead to a diversified
spectrum of disorders that are collectively identified as ribosomopathies. The specific factors …
spectrum of disorders that are collectively identified as ribosomopathies. The specific factors …
rRNA transcription is integral to phase separation and maintenance of nucleolar structure
Transcription of ribosomal RNA (rRNA) by RNA Polymerase (Pol) I in the nucleolus is
necessary for ribosome biogenesis, which is intimately tied to cell growth and proliferation …
necessary for ribosome biogenesis, which is intimately tied to cell growth and proliferation …