Sentences with phrase «cohesin mutations»
Currently, extensive research is conducted to better understand the role of certain cohesin mutations in cancers such as glioblastoma, or Ewing's sarcoma.
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Mutations in the genes encoding proteins that regulate cohesin and cohesin protein itself cause the developmental disorder Cornelia de Lange syndrome (CdLS).
«This also raises the possibility that mild mutations in cohesin genes may be the cause of some fraction of congenital heart defects in the general population,» she says.
CdLS is known to result from mutations in subunits or regulators of cohesin, a group of linked proteins necessary for cell division and other cell processes.
By only analysing DNA sequences that bind to cohesin, roughly one per cent of the genome, it would allow us to analyse an individual's mutations and make it much easier to conduct studies to identify novel harmful mutations,» Martin Enge concludes.
CSIC researcher adds: «We have confirmed that mutation is found in both copies of the gene, one inherited from the father and the other one inherited from the mother, in the four women affected by the disease, causing an absolute absence of STAG3 protein and meiotic cohesin complex in these women.