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Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective.
Cuinat S, Quélin C, Effray C, Dubourg C, Le Bouar G, Cabaret-Dufour AS, Loget P, Proisy M, Sauvestre F, Sarreau M, Martin-Berenguer S, Beneteau C, Naudion S, Michaud V, Arveiler B, Trimouille A, Macé P, Sigaudy S, Glazunova O, Torrents J, Raymond L, Saint-Frison MH, Attié-Bitach T, Lefebvre M, Capri Y, Bourgon N, Thauvin-Robinet C, Tran Mau-Them F, Bruel AL, Vitobello A, Denommé-Pichon AS, Faivre L, Brehin AC, Goldenberg A, Patrier-Sallebert S, Perani A, Dauriat B, Bourthoumieu S, Yardin C, Marquet V, Barnique M, Fiorenza-Gasq M, Marey I, Tournadre D, Doumit R, Nugues F, Barakat TS, Bustos F, Jaillard S, Launay E, Pasquier L, Odent S. Cuinat S, et al. Among authors: bustos f. J Med Genet. 2024 Aug 29;61(9):824-832. doi: 10.1136/jmg-2024-109854. J Med Genet. 2024. PMID: 38849204 Free PMC article.
RSPO/LGR signaling regulates proliferation of adult hippocampal neural stem cells.
Valenzuela-Bezanilla D, Mardones MD, Galassi M, Arredondo SB, Santibanez SH, Gutierrez-Jimenez S, Merino-Véliz N, Bustos FJ, Varela-Nallar L. Valenzuela-Bezanilla D, et al. Among authors: bustos fj. Stem Cells. 2024 Oct 21:sxae065. doi: 10.1093/stmcls/sxae065. Online ahead of print. Stem Cells. 2024. PMID: 39432578
Impact of KDM6B mosaic brain knockout on synaptic function and behavior.
Brauer B, Ancatén-González C, Ahumada-Marchant C, Meza RC, Merino-Veliz N, Nardocci G, Varela-Nallar L, Arriagada G, Chávez AE, Bustos FJ. Brauer B, et al. Among authors: bustos fj. Sci Rep. 2024 Sep 2;14(1):20416. doi: 10.1038/s41598-024-70728-5. Sci Rep. 2024. PMID: 39223259 Free PMC article.
Deletion of VPS50 protein in mouse brain impairs synaptic function and behavior.
Ahumada-Marchant C, Ancatén-Gonzalez C, Haensgen H, Brauer B, Merino-Veliz N, Droste R, Arancibia F, Horvitz HR, Constantine-Paton M, Arriagada G, Chávez AE, Bustos FJ. Ahumada-Marchant C, et al. Among authors: bustos fj. BMC Biol. 2024 Jun 26;22(1):142. doi: 10.1186/s12915-024-01940-y. BMC Biol. 2024. PMID: 38926759 Free PMC article.
From Entry to the Nucleus: How Retroviruses Commute.
Osega CE, Bustos FJ, Arriagada G. Osega CE, et al. Among authors: bustos fj. Annu Rev Virol. 2024 Sep;11(1):89-104. doi: 10.1146/annurev-virology-100422-023502. Epub 2024 Aug 30. Annu Rev Virol. 2024. PMID: 38848600 Review.
Skeletal myotubes expressing ALS mutant SOD1 induce pathogenic changes, impair mitochondrial axonal transport, and trigger motoneuron death.
Martínez P, Silva M, Abarzúa S, Tevy MF, Jaimovich E, Constantine-Paton M, Bustos FJ, van Zundert B. Martínez P, et al. Among authors: bustos fj. bioRxiv [Preprint]. 2024 May 26:2024.05.24.595817. doi: 10.1101/2024.05.24.595817. bioRxiv. 2024. Update in: Mol Med. 2024 Oct 25;30(1):185. doi: 10.1186/s10020-024-00942-4. PMID: 38826246 Free PMC article. Updated. Preprint.
263 results