Mariona Terradas
Overview
Explore the profile of Mariona Terradas including associated specialties, affiliations and a list of published articles.
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Articles
31
Citations
453
Followers
0
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Recent Articles
1.
Terradas M, Schubert S, Viana-Errasti J, Ruano D, Aiza G, Nielsen M, et al.
Eur J Hum Genet
. 2024 May;
32(7):871-875.
PMID: 38778081
Two independent exome sequencing initiatives aimed to identify new genes involved in the predisposition to nonpolyposis colorectal cancer led to the identification of heterozygous loss-of-function variants in NPAT, a gene...
2.
Andrianova M, Seplyarskiy V, Terradas M, Sanchez-Heras A, Mur P, Soto J, et al.
Eur J Hum Genet
. 2024 Apr;
32(7):837-845.
PMID: 38658779
Constitutional heterozygous pathogenic variants in the exonuclease domain of POLE and POLD1, which affect the proofreading activity of the corresponding polymerases, cause a cancer predisposition syndrome characterized by increased risk...
3.
Gonzalez-Abuin N, Pons T, Fuster T, Quintana I, Terradas M, Aiza G, et al.
Genes Dis
. 2023 Sep;
11(2):524-527.
PMID: 37692519
No abstract available.
4.
Terradas M, Gonzalez-Abuin N, Garcia-Mulero S, Viana-Errasti J, Aiza G, Piulats J, et al.
Eur J Hum Genet
. 2023 Jul;
31(10):1185-1189.
PMID: 37402954
Germline mutations in MBD4, which, like MUTYH and NTHL1, encodes a glycosylase of the DNA based excision repair system, cause an autosomal recessive syndrome characterised by increased risk of acute...
5.
Quintana I, Terradas M, Mur P, Te Paske I, Peters S, Spier I, et al.
Genes Dis
. 2023 Jul;
10(3):753-757.
PMID: 37396538
No abstract available.
6.
Gonzalez-Bermudez L, Genesca A, Terradas M, Martin M
Biogerontology
. 2022 Jul;
23(4):499-514.
PMID: 35851632
Increased frequency of DNA double strand breaks (DSBs) with aging suggests an age-associated decline in DSB repair efficiency, which is also influenced by the epigenetic landscape. H4 acetylation at lysine...
7.
Quintana I, Mur P, Terradas M, Garcia-Mulero S, Aiza G, Navarro M, et al.
Cancers (Basel)
. 2022 Feb;
14(3).
PMID: 35158968
The ALFRED (Allelic Loss Featuring Rare Damaging) in silico method was developed to identify cancer predisposition genes through the identification of somatic second hits. By applying ALFRED to ~10,000 tumor...
8.
Daca Alvarez M, Quintana I, Terradas M, Mur P, Balaguer F, Valle L
Cells
. 2021 Apr;
10(3).
PMID: 33806975
Early-onset colorectal cancer (EOCRC), defined as that diagnosed before the age of 50, accounts for 10-12% of all new colorectal cancer (CRC) diagnoses. Epidemiological data indicate that EOCRC incidence is...
9.
Repulles J, Terradas M, Fuster G, Genesca A, Anglada T
J Vis Exp
. 2020 Oct;
(163).
PMID: 33044448
Tumorigenesis is a multi-step process in which cells acquire capabilities that allow their growth, survival, and dissemination under hostile conditions. Different tests seek to identify and quantify these hallmarks of...
10.
Terradas M, Mur P, Belhadj S, Woodward E, Burghel G, Munoz-Torres P, et al.
Gut
. 2020 Oct;
70(6):1139-1146.
PMID: 32998877
Objective: Germline pathogenic (P) variants cause Li-Fraumeni syndrome (LFS), an aggressive multitumor-predisposing condition. Due to the implementation of multigene panel testing, variants have been detected in individuals without LFS suspicion,...