Výsledky vyhledávání - "Elena Bueno Martínez"

Akademický článek

Chloroquine-induced DNA damage synergizes with DNA repair inhibitors causing cancer cell death

Autor: Diego Iglesias-Corral, Paula García-Valles, Nuria Arroyo-Garrapucho, Elena Bueno-Martínez, Juan Manuel Ruiz-Robles, María Ovejero-Sánchez, Rogelio González-Sarmiento, Ana Belén Herrero

Publikováno v: Frontiers in Oncology, Vol 14 (2024)

BackgroundCancer is a global health problem accounting for nearly one in six deaths worldwide. Conventional treatments together with new therapies have increased survival to this devastating disease. However, the persistent challenges of treatment re

Externí odkaz: https://doaj.org/article/5ded0b4c56a84217a57b3ff5d47829be

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Akademický článek

Predominantly Pro-Inflammatory Phenotype with Mixed M1/M2 Polarization of Peripheral Blood Classical Monocytes and Monocyte-Derived Macrophages among Patients with Excessive Ethanol Intake

Autor: María Fernández-Regueras, Cristina Carbonell, Daniel Salete-Granado, Juan-Luis García, Marcos Gragera, María-Ángeles Pérez-Nieto, Francisco-Javier Morán-Plata, Andrea Mayado, Jorge-Luis Torres, Luis-Antonio Corchete, Ricardo Usategui-Martín, Elena Bueno-Martínez, Maura Rojas-Pirela, Guadalupe Sabio, Rogelio González-Sarmiento, Alberto Orfao, Francisco-Javier Laso, Julia Almeida, Miguel Marcos

Publikováno v: Antioxidants, Vol 12, Iss 9, p 1708 (2023)

Excessive alcohol consumption impairs the immune system, induces oxidative stress, and triggers the activation of peripheral blood (PB) monocytes, thereby contributing to alcoholic liver disease (ALD). We analyzed the M1/M2 phenotypes of circulating

Externí odkaz: https://doaj.org/article/668f4fe7ec5f428fa733612f830390be

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The p.Pro2232Leu variant in the ChEL domain of thyroglobulin gene causes intracellular transport disorder and congenital hypothyroidism

Autor: Sofia Siffo, Mauricio Gomes Pio, Elena Bueno Martínez, Katherine Lachlan, Joanna Walker, Jacques Weill, Rogelio González-Sarmiento, Carina M. Rivolta, Héctor M. Targovnik

Thyroglobulin (TG), the predominant glycoprotein of the thyroid gland, functions as matrix protein in thyroid hormonegenesis. TG deficiency results in thyroid dyshormonogenesis. These variants produce a heterogeneous spectrum of congenital goitre, wi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cfc9c15f53de688bd83a5f5679ac4697
https://doi.org/10.21203/rs.3.rs-2167457/v1

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Minigene-based splicing analysis and ACMG/AMP-based tentative classification of 56 ATM variants

Autor: Elena Bueno‐Martínez, Lara Sanoguera‐Miralles, Alberto Valenzuela‐Palomo, Ada Esteban‐Sánchez, Víctor Lorca, Inés Llinares‐Burguet, Jamie Allen, Alicia García‐Álvarez, Pedro Pérez‐Segura, Mercedes Durán, Douglas F Easton, Peter Devilee, Maaike PG Vreeswijk, Miguel de la Hoya, Eladio A Velasco‐Sampedro

Publikováno v: Digital.CSIC. Repositorio Institucional del CSIC
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The Journal of Pathology, 258(1), 83-101. WILEY

The ataxia telangiectasia-mutated (ATM) protein is a major coordinator of the DNA damage response pathway. ATM loss-of-function variants are associated with 2-fold increased breast cancer risk. We aimed at identifying and classifying spliceogenic ATM

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14fbed054193fc8de9b8884d6a963382

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Minigene splicing assays identify 20 spliceogenic variants of the breast/Ovarian cancer susceptibility gene RAD51C

Autor: Lara Sanoguera-Miralles, Elena Bueno-Martínez, Alberto Valenzuela-Palomo, Ada Esteban-Sánchez, Inés Llinares-Burguet, Pedro Pérez-Segura, Alicia García-Álvarez, Miguel de la Hoya, Eladio A. Velasco-Sampedro

Publikováno v: Digital.CSIC. Repositorio Institucional del CSIC
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Cancers; Volume 14; Issue 12; Pages: 2960

RAD51C loss-of-function variants are associated with an increased risk of breast and ovarian cancers. Likewise, splicing disruptions are a frequent mechanism of gene inactivation. Taking advantage of a previous splicing-reporter minigene with exons 2

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a08efc1652da86ebe3076a3520d43f79
http://hdl.handle.net/10261/281637

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Splicing analysis of 16 PALB2 clinVar variants by minigene assays: identification of six likely pathogenic variants

Autor: Alberto Valenzuela-Palomo, Lara Sanoguera-Miralles, Elena Bueno-Martínez, Ada Esteban-Sánchez, Inés Llinares-Burguet, Alicia García-Álvarez, Pedro Pérez-Segura, Susana Gómez-Barrero, Miguel de la Hoya, Eladio A. Velasco-Sampedro

Publikováno v: Digital.CSIC. Repositorio Institucional del CSIC
instname
Cancers; Volume 14; Issue 18; Pages: 4541

PALB2 loss-of-function variants are associated with significant increased risk of breast cancer as well as other types of tumors. Likewise, splicing disruptions are a common mechanism of disease susceptibility. Indeed, we previously showed, by minige

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::460668b18447c16827e0cf17cde97746
http://hdl.handle.net/10261/282544

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Germline Variants of

Autor: Lizhen, Zhu, Beiping, Miao, Dagmara, Dymerska, Magdalena, Kuswik, Elena, Bueno-Martínez, Lara, Sanoguera-Miralles, Eladio A, Velasco, Nagarajan, Paramasivam, Matthias, Schlesner, Abhishek, Kumar, Ying, Yuan, Jan, Lubinski, Obul Reddy, Bandapalli, Kari, Hemminki, Asta, Försti

Publikováno v: Cancers. 14(3)

Familial colorectal cancer (CRC) is only partially explained by known germline predisposing genes. We performed whole-genome sequencing in 15 Polish families of many affected individuals, without mutations in known CRC predisposing genes. We focused

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::3dfcdf21c89a3200663ddda2af26dc58
https://pubmed.ncbi.nlm.nih.gov/35158942

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