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Discovery of recessive effect of human polymerase δ proofreading deficiency through mutational analysis of POLD1-mutated normal and cancer cells.
Andrianova MA, Seplyarskiy VB, Terradas M, Sánchez-Heras AB, Mur P, Soto JL, Aiza G, Borràs E, Kondrashov FA, Kondrashov AS, Bazykin GA, Valle L. Andrianova MA, et al. Among authors: mur p. Eur J Hum Genet. 2024 Apr 24. doi: 10.1038/s41431-024-01598-8. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38658779
miR-543 regulates the epigenetic landscape of myelofibrosis by targeting TET1 and TET2.
Fuentes-Mattei E, Bayraktar R, Manshouri T, Silva AM, Ivan C, Gulei D, Fabris L, Soares do Amaral N, Mur P, Perez C, Torres-Claudio E, Dragomir MP, Badillo-Perez A, Knutsen E, Narayanan P, Golfman L, Shimizu M, Zhang X, Zhao W, Ho WT, Estecio MR, Bartholomeusz G, Tomuleasa C, Berindan-Neagoe I, Zweidler-McKay PA, Estrov Z, Zhao ZJ, Verstovsek S, Calin GA, Redis RS. Fuentes-Mattei E, et al. Among authors: mur p. JCI Insight. 2024 Feb 8;9(3):e178762. doi: 10.1172/jci.insight.178762. JCI Insight. 2024. PMID: 38329131 Free PMC article. No abstract available.
Exploring Co-occurring POLE Exonuclease and Non-exonuclease Domain Mutations and Their Impact on Tumor Mutagenicity.
Shah SM, Demidova EV, Ringenbach S, Faezov B, Andrake M, Gandhi A, Mur P, Viana-Errasti J, Xiu J, Swensen J, Valle L, Dunbrack RL Jr, Hall MJ, Arora S. Shah SM, et al. Among authors: mur p. Cancer Res Commun. 2024 Jan 26;4(1):213-225. doi: 10.1158/2767-9764.CRC-23-0312. Epub 2024 Jan 8. Cancer Res Commun. 2024. PMID: 38282550 Free PMC article.
Impact of climate change-related environmental factors on the allergens production and the epidemiology and severity of allergic pathologies.
Montoro J, Antolín-Amérigo D, Artés M, Izquierdo-Domínguez A, Zapata JJ, Mur P, Carrillo T, Antépara I, Feo F, Moral A, Valero A. Montoro J, et al. Among authors: mur p. J Investig Allergol Clin Immunol. 2024 Jan 11:0. doi: 10.18176/jiaci.0988. Online ahead of print. J Investig Allergol Clin Immunol. 2024. PMID: 38221868 Free article. Review.
Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel.
Spier I, Yin X, Richardson M, Pineda M, Laner A, Ritter D, Boyle J, Mur P, Hansen TVO, Shi X, Mahmood K, Plazzer JP, Ognedal E, Nordling M, Farrington SM, Yamamoto G, Baert-Desurmont S, Martins A, Borras E, Tops C, Webb E, Beshay V, Genuardi M, Pesaran T, Capellá G, Tavtigian SV, Latchford A, Frayling IM, Plon SE, Greenblatt M, Macrae FA, Aretz S; InSiGHT-ClinGen Hereditary Colon Cancer/Polyposis Variant Curation Expert Panel. Spier I, et al. Among authors: mur p. Genet Med. 2024 Feb;26(2):100992. doi: 10.1016/j.gim.2023.100992. Epub 2023 Oct 4. Genet Med. 2024. PMID: 37800450 Free article.
Wnt genes in colonic polyposis predisposition.
Quintana I, Terradas M, Mur P, Te Paske IBAW, Peters S, Spier I, Steinke-Lange V, Maestro C, Torrents D, Puiggròs M, Royo R, Tonda R, Parra G, Piscia D, Beltrán S, Navarro M, Piñol V, Brunet J, Gonzalez-Abuin N, Aiza G, Sommer A, van Herwaarden Y, Astuti G, Holinski-Feder E, Hoogerbrugge N, de Voer RM, Aretz S, Capellá G, Valle L. Quintana I, et al. Among authors: mur p. Genes Dis. 2022 Dec 29;10(3):753-757. doi: 10.1016/j.gendis.2022.12.002. eCollection 2023 May. Genes Dis. 2022. PMID: 37396538 Free PMC article. No abstract available.
72 results