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Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis.
Altunoglu U, Palencia-Campos A, Güneş N, Turgut GT, Nevado J, Lapunzina P, Valencia M, Iturrate A, Otaify G, Elhossini R, Ashour A, K Amin A, Elnahas RF, Fernandez-Nuñez E, Flores CL, Arias P, Tenorio J, Chamorro Fernández CI, Güven Y, Özsu E, Eklioğlu BS, Ibarra-Ramirez M, Diness BR, Burnyte B, Ajmi H, Yüksel Z, Yıldırım R, Ünal E, Abdalla E, Aglan M, Kayserili H, Tuysuz B, Ruiz-Pérez V. Altunoglu U, et al. Among authors: palencia campos a. J Med Genet. 2024 Mar 26:jmg-2023-109546. doi: 10.1136/jmg-2023-109546. Online ahead of print. J Med Genet. 2024. PMID: 38531627
Targeting cancer stem cell OXPHOS with tailored ruthenium complexes as a new anti-cancer strategy.
Alcalá S, Villarino L, Ruiz-Cañas L, Couceiro JR, Martínez-Calvo M, Palencia-Campos A, Navarro D, Cabezas-Sainz P, Rodriguez-Arabaolaza I, Cordero-Barreal A, Trilla-Fuertes L, Rubiolo JA, Batres-Ramos S, Vallespinos M, González-Páramos C, Rodríguez J, Gámez-Pozo A, Vara JÁF, Fernández SF, Berlinches AB, Moreno-Mata N, Redondo AMT, Carrato A, Hermann PC, Sánchez L, Torrente S, Fernández-Moreno MÁ, Mascareñas JL, Sainz B Jr. Alcalá S, et al. Among authors: palencia campos a. J Exp Clin Cancer Res. 2024 Jan 27;43(1):33. doi: 10.1186/s13046-023-02931-7. J Exp Clin Cancer Res. 2024. PMID: 38281027 Free PMC article.
EVC-EVC2 complex stability and ciliary targeting are regulated by modification with ubiquitin and SUMO.
Barbeito P, Martin-Morales R, Palencia-Campos A, Cerrolaza J, Rivas-Santos C, Gallego-Colastra L, Caparros-Martin JA, Martin-Bravo C, Martin-Hurtado A, Sánchez-Bellver L, Marfany G, Ruiz-Perez VL, Garcia-Gonzalo FR. Barbeito P, et al. Among authors: palencia campos a. Front Cell Dev Biol. 2023 Jul 27;11:1190258. doi: 10.3389/fcell.2023.1190258. eCollection 2023. Front Cell Dev Biol. 2023. PMID: 37576597 Free PMC article.
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.
Luque J, Mendes I, Gómez B, Morte B, López de Heredia M, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F; CIBERER Network; Lapunzina P. Luque J, et al. Clin Genet. 2022 May;101(5-6):481-493. doi: 10.1111/cge.14113. Epub 2022 Feb 4. Clin Genet. 2022. PMID: 35060122 Free PMC article. Review.
Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.
Palencia-Campos A, Aoto PC, Machal EMF, Rivera-Barahona A, Soto-Bielicka P, Bertinetti D, Baker B, Vu L, Piceci-Sparascio F, Torrente I, Boudin E, Peeters S, Van Hul W, Huber C, Bonneau D, Hildebrand MS, Coleman M, Bahlo M, Bennett MF, Schneider AL, Scheffer IE, Kibæk M, Kristiansen BS, Issa MY, Mehrez MI, Ismail S, Tenorio J, Li G, Skålhegg BS, Otaify GA, Temtamy S, Aglan M, Jønch AE, De Luca A, Mortier G, Cormier-Daire V, Ziegler A, Wallis M, Lapunzina P, Herberg FW, Taylor SS, Ruiz-Perez VL. Palencia-Campos A, et al. Am J Hum Genet. 2020 Nov 5;107(5):977-988. doi: 10.1016/j.ajhg.2020.09.005. Epub 2020 Oct 14. Am J Hum Genet. 2020. PMID: 33058759 Free PMC article.
Common atrium/atrioventricular canal defect and postaxial polydactyly: A mild clinical subtype of Ellis-van Creveld syndrome caused by hypomorphic mutations in the EVC gene.
Piceci-Sparascio F, Palencia-Campos A, Soto-Bielicka P, D'Anzi A, Guida V, Rosati J, Caparros-Martin JA, Torrente I, D'Asdia MC, Versacci P, Briuglia S, Lapunzina P, Tartaglia M, Marino B, Digilio MC, Ruiz-Perez VL, De Luca A. Piceci-Sparascio F, et al. Among authors: palencia campos a. Hum Mutat. 2020 Dec;41(12):2087-2093. doi: 10.1002/humu.24112. Epub 2020 Oct 14. Hum Mutat. 2020. PMID: 32906221
Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B.
Palencia-Campos A, Martínez-Fernández ML, Altunoglu U, Soto-Bielicka P, Torres A, Marín P, Aller E, Şentürk L, Berköz Ö, Yıldıran M, Kayserili H, Gil-Camarero E, Colli-Lista G, Sanchís-Calvo A, Carretero A; ECEMC Working Group on Polydactyly; Guillén-Navarro E, López-González V, Ballesta-Martínez M, Rosell J, Aglan MS, Temtamy S, Otaify GA, Cuevas-Catalina L, Torres-Saavedra MN, Nevado J, Tenorio J, Lapunzina P, Bermejo-Sánchez E, Ruiz-Pérez VL. Palencia-Campos A, et al. Hum Mutat. 2020 Jan;41(1):265-276. doi: 10.1002/humu.23921. Epub 2019 Nov 6. Hum Mutat. 2020. PMID: 31549748