Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Theona Natisvili"'
Autor:
Theona Natisvili, Cihangir Yandim, Raquel Silva, Giulia Emanuelli, Felix Krueger, Sathiji Nageshwaran, Richard Festenstein
Publikováno v:
PLoS ONE, Vol 11, Iss 11, p e0165873 (2016)
Heterochromatinisation of pericentromeres, which in mice consist of arrays of major satellite repeats, are important for centromere formation and maintenance of genome stability. The dysregulation of this process has been linked to genomic stress and
Externí odkaz:
https://doaj.org/article/f40a1451f4c04e17a3b39ef7ec217906
Publikováno v:
Journal of Neurochemistry. 126:21-42
This is an exciting time in the study of Friedreich's ataxia. Over the last 10 years much progress has been made in uncovering the mechanisms, whereby the Frataxin gene is silenced by (GAA)n repeat expansions and several of the findings are now ripe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ad4e5e858c96e713ce90bc42cac6de4
https://doi.org/10.1111/jnc.12254
https://doi.org/10.1111/jnc.12254
Autor:
Konstantinos Agiannitopoulos, Theona Natisvili, Ourania Peraki, Konstantinos Pantos, Iakovos Litridis, Klea Lamnissou, Neoptolemos Kapnoulas, Panagiotis Ntostis
Publikováno v:
Archives of Gynecology and Obstetrics. 283:289-293
The CYP17 gene encodes the enzyme cytochrome P450c17α, which functions at key steps in the synthesis process of human sex steroid hormones. A T/C polymorphism in the 5′ promoter region of the CYP17 gene has been described previously. Serum levels
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68f03bf6bb4e1a5da6a57d492ee375ae
https://doi.org/10.1007/s00404-009-1348-x
https://doi.org/10.1007/s00404-009-1348-x
Autor:
Aravind V Ramesh, Theona Natisvili, Marta Mauri, Jackson P. K. Chan, Richard Festenstein, Piu Pik Law, Santiago Uribe Lewis, Cihangir Yandim
Publikováno v:
Genomic Medicine: Principles and Practice
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3cb8991b033f11e838f64c53c63ce9d8
https://doi.org/10.1093/med/9780199896028.003.0004
https://doi.org/10.1093/med/9780199896028.003.0004
Autor:
James Leiper, Cihangir Yandim, Theona Natisvili, Stavros Athanasopoulos, Marta Mauri, Kin Tung Tam, Pui Pik Law, Aravind V Ramesh, Les Huson, Vincenzo Libri, Paola Giunti, Richard Festenstein, Naomi Loyse, Michael H Parkinson, Sophie Piper, Tariq Mohammad, Ping Kei Chan
SummaryBackgroundFriedreich's ataxia is a progressive degenerative disorder caused by deficiency of the frataxin protein. Expanded GAA repeats within intron 1 of the frataxin (FXN) gene lead to its heterochromatinisation and transcriptional silencing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b7cada2d265a37508ad48506ca2fcb5
https://eprints.gla.ac.uk/152994/1/152994.pdf
https://eprints.gla.ac.uk/152994/1/152994.pdf