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Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome.
Paolacci S, Li Y, Agolini E, Bellacchio E, Arboleda-Bustos CE, Carrero D, Bertola D, Al-Gazali L, Alders M, Altmüller J, Arboleda G, Beleggia F, Bruselles A, Ciolfi A, Gillessen-Kaesbach G, Krieg T, Mohammed S, Müller C, Novelli A, Ortega J, Sandoval A, Velasco G, Yigit G, Arboleda H, Lopez-Otin C, Wollnik B, Tartaglia M, Hennekam RC. Paolacci S, et al. J Med Genet. 2018 Dec;55(12):837-846. doi: 10.1136/jmedgenet-2018-105528. Epub 2018 Oct 15. J Med Genet. 2018. PMID: 30323018
Nucleolar disruption, activation of P53 and premature senescence in POLR3A-mutated Wiedemann-Rautenstrauch syndrome fibroblasts.
Báez-Becerra CT, Valencia-Rincón E, Velásquez-Méndez K, Ramírez-Suárez NJ, Guevara C, Sandoval-Hernandez A, Arboleda-Bustos CE, Olivos-Cisneros L, Gutiérrez-Ospina G, Arboleda H, Arboleda G. Báez-Becerra CT, et al. Among authors: arboleda bustos ce. Mech Ageing Dev. 2020 Dec;192:111360. doi: 10.1016/j.mad.2020.111360. Epub 2020 Sep 22. Mech Ageing Dev. 2020. PMID: 32976914
Genome-Wide Analysis of Copy Number Variation in Latin American Parkinson's Disease Patients.
Sarihan EI, Pérez-Palma E, Niestroj LM, Loesch D, Inca-Martinez M, Horimoto ARVR, Cornejo-Olivas M, Torres L, Mazzetti P, Cosentino C, Sarapura-Castro E, Rivera-Valdivia A, Dieguez E, Raggio V, Lescano A, Tumas V, Borges V, Ferraz HB, Rieder CR, Schumacher-Schuh AF, Santos-Lobato BL, Velez-Pardo C, Jimenez-Del-Rio M, Lopera F, Moreno S, Chana-Cuevas P, Fernandez W, Arboleda G, Arboleda H, Arboleda-Bustos CE, Yearout D, Zabetian CP, Thornton TA, O'Connor TD, Lal D, Mata IF; Latin American Research Consortium on the Genetics of Parkinson's Disease (LARGE-PD)‡. Sarihan EI, et al. Among authors: arboleda bustos ce. Mov Disord. 2021 Feb;36(2):434-441. doi: 10.1002/mds.28353. Epub 2020 Nov 5. Mov Disord. 2021. PMID: 33150996 Free PMC article.
17 results