Nizon M, Laugel V, Flanigan KM, et al. Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect. Genet Med. 2019;21(12):2713-2722. Published correction appears in Genet Med. 2019;21(11):2663. https://doi.org/10.1038/s41436-019-0557-3.
Purchase one-time access:
Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online accessOne-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
ACMG Member Login
Are you an ACMG Member? Sign in for online access.Subscribe:
Subscribe to Genetics in MedicineReferences
Nizon M, Laugel V, Flanigan KM, et al. Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect. Genet Med. 2019;21(12):2713-2722. Published correction appears in Genet Med. 2019;21(11):2663. https://doi.org/10.1038/s41436-019-0557-3.
- Panorama of ancient metazoan macromolecular complexes.Nature. 2015; 525: 339-344https://doi.org/10.1038/nature14877
- Spatial and temporal regulation of condensins I and II in mitotic chromosome assembly in human cells.Mol Biol Cell. 2004; 15: 3296-3308https://doi.org/10.1091/mbc.e04-03-0242
- Condensin I stabilizes chromosomes mechanically through a dynamic interaction in live cells.Curr Biol. 2006; 16: 333-344https://doi.org/10.1016/j.cub.2005.12.040
Martin CA, Murray JE, Carroll P, et al. Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis. Genes Dev. 2016;30(19):2158-2172. Published correction appears in Genes Dev. 2017;31(9):953. https://doi.org/10.1101/gad.286351.116.
- Contrasting roles of condensin I and condensin II in mitotic chromosome formation.J Cell Sci. 2012; 125: 1591-1604https://doi.org/10.1242/jcs.097790
- RNA polymerase II is required for spatial chromatin reorganization following exit from mitosis.Sci Adv. 2021; 7eabg8205https://doi.org/10.1126/sciadv.abg8205
- The Mediator complex: a central integrator of transcription.Nat Rev Mol Cell Biol. 2015; 16: 155-166https://doi.org/10.1038/nrm3951
Article info
Publication history
Identification
Copyright
ScienceDirect
Access this article on ScienceDirectLinked Article
- Response to Kossmann Ferraz et alGenetics in MedicineVol. 24Issue 10
- PreviewIn their letter, Kossmann Ferraz et al1 reported a patient affected by a neurodevelopmental disorder and carrying a germline de novo loss-of-function variant (c.971del;p.(pro324Glnfs∗18)) in MED12L. This boy also carries 2 de novo chromosomal balanced reciprocal translocations: 46,XY,t(1;2)(p33;p22),t(5;9)(p15;q21). This lead them to ask if a loss-of-function MED12L variant could induce chromosomal instability and be responsible for a de novo rearrangement.
- Full-Text
- Preview
