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Page 1
The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture.
Vazquez N, Lee C, Valenzuela I, Phan TP, Derderian C, Chávez M, Mooney NA, Demeter J, Aziz-Zanjani MO, Cusco I, Codina M, Martínez-Gil N, Valverde D, Solarat C, Buel AL, Thauvin-Robinet C, Steichen E, Filges I, Joset P, De Geyter J, Vaidyanathan K, Gardner T, Toriyama M, Marcotte EM, Roberson EC, Jackson PK, Reiter JF, Tizzano EF, Wallingford JB. Vazquez N, et al. Among authors: martinez gil n. bioRxiv [Preprint]. 2024 Sep 26:2024.09.25.614984. doi: 10.1101/2024.09.25.614984. bioRxiv. 2024. PMID: 39386566 Free PMC article. Preprint.
Chromatin assembly factor subunit CHAF1A as a monogenic cause for oculo-auriculo-vertebral spectrum.
Pingault V, Neiva-Vaz C, de Oliveira J, Martínez-Gil N, Lasa-Aranzasti A, Campos B, Lakeman IMM, Nibbeling EAR, Stoeva R, Jayakar P, Dabir T, Elloumi HZ, Strong A, Hanein S, Picard A, Ochsenbein F, Blanc P, Amiel J. Pingault V, et al. Among authors: martinez gil n. Eur J Hum Genet. 2024 Sep 27. doi: 10.1038/s41431-024-01698-5. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39333427
Evolutionary and functional analyses of LRP5 in archaic and extant modern humans.
Roca-Ayats N, Maceda I, Bruque CD, Martínez-Gil N, Garcia-Giralt N, Cozar M, Mellibovsky L, Van Hul W, Lao O, Grinberg D, Balcells S. Roca-Ayats N, et al. Among authors: martinez gil n. Hum Genomics. 2024 May 27;18(1):53. doi: 10.1186/s40246-024-00616-6. Hum Genomics. 2024. PMID: 38802968 Free PMC article.
Ischemia-Reperfusion Increases TRPM7 Expression in Mouse Retinas.
Martínez-Gil N, Kutsyr O, Fernández-Sánchez L, Sánchez-Sáez X, Albertos-Arranz H, Sánchez-Castillo C, Vidal-Gil L, Cuenca N, Lax P, Maneu V. Martínez-Gil N, et al. Int J Mol Sci. 2023 Nov 8;24(22):16068. doi: 10.3390/ijms242216068. Int J Mol Sci. 2023. PMID: 38003256 Free PMC article.
Prph2 knock-in mice recapitulate human central areolar choroidal dystrophy retinal degeneration and exhibit aberrant synaptic remodeling and microglial activation.
Ruiz-Pastor MJ, Sánchez-Sáez X, Kutsyr O, Albertos-Arranz H, Sánchez-Castillo C, Ortuño-Lizarán I, Martínez-Gil N, Vidal-Gil L, Méndez L, Sánchez-Martín M, Maneu V, Lax P, Cuenca N. Ruiz-Pastor MJ, et al. Among authors: martinez gil n. Cell Death Dis. 2023 Nov 1;14(11):711. doi: 10.1038/s41419-023-06243-8. Cell Death Dis. 2023. PMID: 37914688 Free PMC article.
Pathogenic RAB34 variants impair primary cilium assembly and cause a novel oral-facial-digital syndrome.
Bruel AL, Ganga AK, Nosková L, Valenzuela I, Martinovic J, Duffourd Y, Zikánová M, Majer F, Kmoch S, Mohler M, Sun J, Sweeney LK, Martínez-Gil N, Thauvin-Robinet C, Breslow DK. Bruel AL, et al. Among authors: martinez gil n. Hum Mol Genet. 2023 Sep 5;32(18):2822-2831. doi: 10.1093/hmg/ddad109. Hum Mol Genet. 2023. PMID: 37384395 Free PMC article.
Microglia activation and neuronal alterations in retinas from COVID-19 patients: correlation with clinical parameters.
Albertos-Arranz H, Martínez-Gil N, Sánchez-Sáez X, Noailles A, Monferrer Adsuara C, Remolí Sargues L, Pérez-Santonja JJ, Lax P, Calvo Andrés R, Cuenca N. Albertos-Arranz H, et al. Among authors: martinez gil n. Eye Vis (Lond). 2023 Mar 1;10(1):12. doi: 10.1186/s40662-023-00329-2. Eye Vis (Lond). 2023. PMID: 36855168 Free PMC article.
37 results