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ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism.
Desai R, Frazier AE, Durigon R, Patel H, Jones AW, Dalla Rosa I, Lake NJ, Compton AG, Mountford HS, Tucker EJ, Mitchell ALR, Jackson D, Sesay A, Di Re M, van den Heuvel LP, Burke D, Francis D, Lunke S, McGillivray G, Mandelstam S, Mochel F, Keren B, Jardel C, Turner AM, Ian Andrews P, Smeitink J, Spelbrink JN, Heales SJ, Kohda M, Ohtake A, Murayama K, Okazaki Y, Lombès A, Holt IJ, Thorburn DR, Spinazzola A. Desai R, et al. Among authors: patel h. Brain. 2017 Jun 1;140(6):1595-1610. doi: 10.1093/brain/awx094. Brain. 2017. PMID: 28549128 Free PMC article.
RTEL1 Regulates G4/R-Loops to Avert Replication-Transcription Collisions.
Kotsantis P, Segura-Bayona S, Margalef P, Marzec P, Ruis P, Hewitt G, Bellelli R, Patel H, Goldstone R, Poetsch AR, Boulton SJ. Kotsantis P, et al. Among authors: patel h. Cell Rep. 2020 Dec 22;33(12):108546. doi: 10.1016/j.celrep.2020.108546. Cell Rep. 2020. PMID: 33357438 Free PMC article.
N6-methyladenosine (m6A) reader Pho92 is recruited co-transcriptionally and couples translation to mRNA decay to promote meiotic fitness in yeast.
Varier RA, Sideri T, Capitanchik C, Manova Z, Calvani E, Rossi A, Edupuganti RR, Ensinck I, Chan VWC, Patel H, Kirkpatrick J, Faull P, Snijders AP, Vermeulen M, Ralser M, Ule J, Luscombe NM, van Werven FJ. Varier RA, et al. Among authors: patel h. Elife. 2022 Nov 24;11:e84034. doi: 10.7554/eLife.84034. Elife. 2022. PMID: 36422864 Free PMC article.
5,601 results