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Page 1
Identification of a de novo mutation in TLK1 associated with a neurodevelopmental disorder and immunodeficiency.
Villamor-Payà M, Sanchiz-Calvo M, Smak J, Pais L, Sud M, Shankavaram U, Lovgren AK, Austin-Tse C, Ganesh VS, Gay M, Vilaseca M, Arauz-Garofalo G, Palenzuela L, VanNoy G, O'Donnell-Luria A, Stracker TH. Villamor-Payà M, et al. Among authors: palenzuela l. medRxiv [Preprint]. 2023 Aug 24:2023.08.22.23294267. doi: 10.1101/2023.08.22.23294267. medRxiv. 2023. Update in: iScience. 2024 May 18;27(6):109984. doi: 10.1016/j.isci.2024.109984 PMID: 37662408 Free PMC article. Updated. Preprint.
De novo TLK1 and MDM1 mutations in a patient with a neurodevelopmental disorder and immunodeficiency.
Villamor-Payà M, Sanchiz-Calvo M, Smak J, Pais L, Sud M, Shankavaram U, Lovgren AK, Austin-Tse C, Ganesh VS, Gay M, Vilaseca M, Arauz-Garofalo G, Palenzuela L, VanNoy G, O'Donnell-Luria A, Stracker TH. Villamor-Payà M, et al. Among authors: palenzuela l. iScience. 2024 May 18;27(6):109984. doi: 10.1016/j.isci.2024.109984. eCollection 2024 Jun 21. iScience. 2024. PMID: 38868186 Free PMC article.
pTINCR microprotein promotes epithelial differentiation and suppresses tumor growth through CDC42 SUMOylation and activation.
Boix O, Martinez M, Vidal S, Giménez-Alejandre M, Palenzuela L, Lorenzo-Sanz L, Quevedo L, Moscoso O, Ruiz-Orera J, Ximénez-Embún P, Ciriaco N, Nuciforo P, Stephan-Otto Attolini C, Albà MM, Muñoz J, Tian TV, Varela I, Vivancos A, Ramón Y Cajal S, Muñoz P, Rivas C, Abad M. Boix O, et al. Among authors: palenzuela l. Nat Commun. 2022 Nov 11;13(1):6840. doi: 10.1038/s41467-022-34529-6. Nat Commun. 2022. PMID: 36369429 Free PMC article.
Differential requirements for Tousled-like kinases 1 and 2 in mammalian development.
Segura-Bayona S, Knobel PA, González-Burón H, Youssef SA, Peña-Blanco A, Coyaud É, López-Rovira T, Rein K, Palenzuela L, Colombelli J, Forrow S, Raught B, Groth A, de Bruin A, Stracker TH. Segura-Bayona S, et al. Among authors: palenzuela l. Cell Death Differ. 2017 Nov;24(11):1872-1885. doi: 10.1038/cdd.2017.108. Epub 2017 Jul 14. Cell Death Differ. 2017. PMID: 28708136 Free PMC article.
GEMC1 is a critical regulator of multiciliated cell differentiation.
Terré B, Piergiovanni G, Segura-Bayona S, Gil-Gómez G, Youssef SA, Attolini CS, Wilsch-Bräuninger M, Jung C, Rojas AM, Marjanović M, Knobel PA, Palenzuela L, López-Rovira T, Forrow S, Huttner WB, Valverde MA, de Bruin A, Costanzo V, Stracker TH. Terré B, et al. Among authors: palenzuela l. EMBO J. 2016 May 2;35(9):942-60. doi: 10.15252/embj.201592821. Epub 2016 Mar 1. EMBO J. 2016. PMID: 26933123 Free PMC article.
CEP63 deficiency promotes p53-dependent microcephaly and reveals a role for the centrosome in meiotic recombination.
Marjanović M, Sánchez-Huertas C, Terré B, Gómez R, Scheel JF, Pacheco S, Knobel PA, Martínez-Marchal A, Aivio S, Palenzuela L, Wolfrum U, McKinnon PJ, Suja JA, Roig I, Costanzo V, Lüders J, Stracker TH. Marjanović M, et al. Among authors: palenzuela l. Nat Commun. 2015 Jul 9;6:7676. doi: 10.1038/ncomms8676. Nat Commun. 2015. PMID: 26158450 Free PMC article.
Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene.
Melià MJ, Kubota A, Ortolano S, Vílchez JJ, Gámez J, Tanji K, Bonilla E, Palenzuela L, Fernández-Cadenas I, Pristoupilová A, García-Arumí E, Andreu AL, Navarro C, Hirano M, Martí R. Melià MJ, et al. Among authors: palenzuela l. Brain. 2013 May;136(Pt 5):1508-17. doi: 10.1093/brain/awt074. Epub 2013 Mar 29. Brain. 2013. PMID: 23543484 Free PMC article.
22 results