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Recently Formed Polyploid Plants Diversify at Lower Rates
Likelihood-based analyses indicate that polyploids generally exhibit lower speciation rates and higher extinction rates than diploids, providing the first quantitative corroboration of the dead-end hypothesis.
Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.
Mutations in EZH2 cause Weaver syndrome.
A novel recurrent mutation in ATP1A3 causes CAPOS syndrome
- M. Demos, C. V. van Karnebeek, +9 authors J. Friedman
- MedicineOrphanet Journal of Rare Diseases
- 28 January 2014
This study shows that an allelic mutation in ATP1A3 produces CAPOS syndrome, a condition previously demonstrated to cause rapid-onset dystonia-parkinsonism or alternating hemiplegia of childhood.
Aberrant patterns of H3K4 and H3K27 histone lysine methylation occur across subgroups in medulloblastoma
- A. Dubuc, M. Remke, +24 authors Michael D. Taylor
- Biology, MedicineActa Neuropathologica
- 1 March 2013
Targeted re-sequencing identified mutations of MLL2 in 8% of MBs, and found that PRC2-mediated aberrant methylation of H3K27 has recently been targeted for therapy in other diseases, and represents an actionable target for a substantial percentage of medulloblastoma patients with aggressive forms of the disease.
One thousand plant transcriptomes and the phylogenomics of green plants
- James H. Michael S. Eric J. Michael K. Matthew A. Sean W Leebens-Mack Barker Carpenter Deyholos Gitzendanne, J. Leebens-Mack, +192 authors G. Wong
- 7 October 2019
It is found that large expansions of gene families preceded the origins of green plants, land plants and vascular plants, whereas whole-genome duplications are inferred to have occurred repeatedly throughout the evolution of flowering plants and ferns.
GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome.
Exome sequencing identifies a novel variant in ACTC1 associated with familial atrial septal defect.
Comparative analysis reveals that polyploidy does not decelerate diversification in fish
- S. Zhan, L. Glick, C. Tsigenopoulos, S. Otto, I. Mayrose
- Biology, MedicineJournal of evolutionary biology
- 1 February 2014
The results suggest that polyploidy is generally not associated with decreased diversification in fish – a pattern that stands in contrast to that previously observed in plants.
Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm
- P. Chetaille, Christoph Preuss, +30 authors G. Andelfinger
- Medicine, BiologyNature Genetics
- 1 November 2014
It is shown that a single shared homozygous founder mutation in SGOL1, a component of the cohesin complex, causes CAID syndrome, a new syndrome characterized by Chronic Atrial and Intestinal Dysrhythmia in 16 French Canadians and 1 Sweden.