ArticleRare diseases (Austin, Tex.)2014
Roberts syndrome: A deficit in acetylated cohesin leads to nucleolar dysfunction.
Article in Rare diseases (Austin, Tex.), 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
21 citing papers in PubMed, 31 citations in OpenAlex.
- A global map of associations between types of protein posttranslational modifications and human genetic diseases.iScience · 2021Article
- Role of the DDX11 DNA Helicase in Warsaw Breakage Syndrome Etiology.International journal of molecular sciences · 2021Review
- Insights into the Conserved Regulatory Mechanisms of Human and Yeast Aging.Biomolecules · 2020Review
- A genetic interaction map centered on cohesin reveals auxiliary factors involved in sister chromatid cohesion inJournal of cell science · 2020Article
- Promotion of Hyperthermic-Induced rDNA Hypercondensation inGenetics · 2020Article
- Multivalent interaction of ESCO2 with the replication machinery is required for sister chromatid cohesion in vertebrates.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
- Pak1ip1 Loss-of-Function Leads to Cell Cycle Arrest, Loss of Neural Crest Cells, and Craniofacial Abnormalities.Frontiers in cell and developmental biology · 2020Article
- The expanding phenotypes of cohesinopathies: one ring to rule them all!Cell cycle (Georgetown, Tex.) · 2019Review
- The nature of meiotic chromosome dynamics and recombination in budding yeast.Journal of microbiology (Seoul, Korea) · 2019Review
- Keeping ribosomal DNA intact: a repeating challenge.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2019Review
- Condensins and cohesins - one of these things is not like the other!Journal of cell science · 2019Review
- Spotlight on Warsaw Breakage Syndrome.The application of clinical genetics · 2019Review
- Review
- Nucleolus and chromatin.Histochemistry and cell biology · 2018Review
- Multiple determinants and consequences of cohesion fatigue in mammalian cells.Molecular biology of the cell · 2018Article
- Cohesin mutations in myeloid malignancies made simple.Current opinion in hematology · 2018Review
- Cohesin mediates Esco2-dependent transcriptional regulation in a zebrafish regenerating fin model of Roberts Syndrome.Biology open · 2017Article
- Improved transcription and translation with L-leucine stimulation of mTORC1 in Roberts syndrome.BMC genomics · 2016Article
- Ribosomopathies: Global process, tissue specific defects.Rare diseases (Austin, Tex.) · 2015Review
- New insights into nucleolar structure and function.F1000prime reports · 2015Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
All living organisms must go through cycles of replicating their genetic information and then dividing the copies between two new cells. This cyclical process, in cells from bacteria and human alike, requires a protein complex known as cohesin. Cohesin is a structural maintenance of chromosomes (SMC) complex. While bacteria have one form of this complex, yeast have several SMC complexes, and humans have at least a dozen cohesin complexes alone. Therefore the ancient structure and function of SMC complexes has been both conserved and specialized over the course of evolution. These complexes play roles in replication, repair, organization, and segregation of the genome. Mutations in the genes that encode cohesin and its regulatory factors are associated with developmental disorders such as Roberts syndrome, Cornelia de Lange syndrome, and cancer. In this review, we focus on how acetylation of cohesin contributes to its function. In Roberts syndrome, the lack of cohesin acetylation contributes to nucleolar defects and translational inhibition. An understanding of basic SMC complex function will be essential to unraveling the molecular etiology of human diseases associated with defective SMC function.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.