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204 results

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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: borras e. 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
Non-destructive method to classify walnut kernel freshness from volatile organic compound (VOC) emissions using gas chromatography-differential mobility spectrometry (GC-DMS) and machine learning analysis.
Chakraborty P, Borras E, Rajapakse MY, McCartney MM, Bustamante M, Mitcham EJ, Davis CE. Chakraborty P, et al. Among authors: borras e. Appl Food Res. 2023 Dec;3(2):100308. doi: 10.1016/j.afres.2023.100308. Epub 2023 Jul 8. Appl Food Res. 2023. PMID: 38566846
Bioaugmentation and vermicompost facilitated the hydrocarbon bioremediation: scaling up from lab to field for petroleum-contaminated soils.
Curiel-Alegre S, Khan AHA, Rad C, Velasco-Arroyo B, Rumbo C, Rivilla R, Durán D, Redondo-Nieto M, Borràs E, Molognoni D, Martín-Castellote S, Juez B, Barros R. Curiel-Alegre S, et al. Among authors: borras e. Environ Sci Pollut Res Int. 2024 Mar 22. doi: 10.1007/s11356-024-32916-8. Online ahead of print. Environ Sci Pollut Res Int. 2024. PMID: 38517632
Next-generation sequencing-based gene panel tests for the detection of rare variants and hypomorphic alleles associated with primary open-angle glaucoma.
Milla E, Laguna J, Alforja MS, Pascual B, Gamundi MJ, Borràs E, Hernán I, Muniesa MJ, Pazos M, Duch S, Carballo M, Jodar M; EMEIGG group. Milla E, et al. Among authors: borras e. PLoS One. 2024 Jan 19;19(1):e0282133. doi: 10.1371/journal.pone.0282133. eCollection 2024. PLoS One. 2024. PMID: 38241218 Free PMC article.
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: borras e. 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.
IκB kinase-α coordinates BRD4 and JAK/STAT signaling to subvert DNA damage-based anticancer therapy.
Pecharromán I, Solé L, Álvarez-Villanueva D, Lobo-Jarne T, Alonso-Marañón J, Bertran J, Guillén Y, Montoto Á, Martínez-Iniesta M, García-Hernández V, Giménez G, Salazar R, Santos C, Garrido M, Borràs E, Sabidó E, Bonfill-Teixidor E, Iurlaro R, Seoane J, Villanueva A, Iglesias M, Bigas A, Espinosa L. Pecharromán I, et al. Among authors: borras e. EMBO J. 2023 Nov 2;42(21):e114719. doi: 10.15252/embj.2023114719. Epub 2023 Sep 22. EMBO J. 2023. PMID: 37737566 Free article.
Molecular signature associated with cladribine treatment in patients with multiple sclerosis.
Fissolo N, Calvo-Barreiro L, Eixarch H, Boschert U, Villar LM, Costa-Frossard L, Ferrer M, Sanchez A, Borràs E, Sabidó E, Espejo C, Montalban X, Comabella M. Fissolo N, et al. Among authors: borras e. Front Immunol. 2023 Jul 25;14:1233546. doi: 10.3389/fimmu.2023.1233546. eCollection 2023. Front Immunol. 2023. PMID: 37559720 Free PMC article.
204 results