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2022 2
2023 2
2024 2

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Page 1
Pathogenic effects of Leu200Pro and Arg387His VRK1 protein variants on phosphorylation targets and H4K16 acetylation in distal hereditary motor neuropathy.
Campos-Díaz A, Morejón-García P, Monte-Serrano E, Ros-Pardo D, Marcos-Alcalde I, Gómez-Puertas P, Lazo PA. Campos-Díaz A, et al. Among authors: ros pardo d. J Mol Med (Berl). 2024 Jun;102(6):801-817. doi: 10.1007/s00109-024-02442-8. Epub 2024 Mar 30. J Mol Med (Berl). 2024. PMID: 38554151 Free PMC article.
Distinct GSDMB protein isoforms and protease cleavage processes differentially control pyroptotic cell death and mitochondrial damage in cancer cells.
Oltra SS, Colomo S, Sin L, Pérez-López M, Lázaro S, Molina-Crespo A, Choi KH, Ros-Pardo D, Martínez L, Morales S, González-Paramos C, Orantes A, Soriano M, Hernández A, Lluch A, Rojo F, Albanell J, Gómez-Puertas P, Ko JK, Sarrió D, Moreno-Bueno G. Oltra SS, et al. Among authors: ros pardo d. Cell Death Differ. 2023 May;30(5):1366-1381. doi: 10.1038/s41418-023-01143-y. Epub 2023 Mar 11. Cell Death Differ. 2023. PMID: 36899106 Free PMC article.
A Novel Intragenic Duplication in the HDAC8 Gene Underlying a Case of Cornelia de Lange Syndrome.
Lucia-Campos C, Valenzuela I, Latorre-Pellicer A, Ros-Pardo D, Gil-Salvador M, Arnedo M, Puisac B, Castells N, Plaja A, Tenes A, Cuscó I, Trujillano L, Ramos FJ, Tizzano EF, Gómez-Puertas P, Pié J. Lucia-Campos C, et al. Among authors: ros pardo d. Genes (Basel). 2022 Aug 8;13(8):1413. doi: 10.3390/genes13081413. Genes (Basel). 2022. PMID: 36011323 Free PMC article.
Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder.
Christensen MB, Levy AM, Mohammadi NA, Niceta M, Kaiyrzhanov R, Dentici ML, Al Alam C, Alesi V, Benoit V, Bhatia KP, Bierhals T, Boßelmann CM, Buratti J, Callewaert B, Ceulemans B, Charles P, De Wachter M, Dehghani M, D'haenens E, Doco-Fenzy M, Geßner M, Gobert C, Guliyeva U, Haack TB, Hammer TB, Heinrich T, Hempel M, Herget T, Hoffmann U, Horvath J, Houlden H, Keren B, Kresge C, Kumps C, Lederer D, Lermine A, Magrinelli F, Maroofian R, Vahidi Mehrjardi MY, Moudi M, Müller AJ, Oostra AJ, Pletcher BA, Ros-Pardo D, Samarasekera S, Tartaglia M, Van Schil K, Vogt J, Wassmer E, Winkelmann J, Zaki MS, Zech M, Lerche H, Radio FC, Gomez-Puertas P, Møller RS, Tümer Z. Christensen MB, et al. Among authors: ros pardo d. Clin Genet. 2022 Aug;102(2):98-109. doi: 10.1111/cge.14165. Epub 2022 Jun 8. Clin Genet. 2022. PMID: 35616059 Free PMC article.