Evidence of telomere attrition and a potential role for DNA damage in systemic sclerosis

Autor: Alicia Usategui, Cristina Municio, Elena G. Arias-Salgado, María Martín, Beatriz Fernández-Varas, Manuel J. Del Rey, Patricia Carreira, Antonio González, Gabriel Criado, Rosario Perona, José L. Pablos

Publikováno v: Immunity & Ageing, Vol 19, Iss 1, Pp 1-9 (2022)

Abstract Background To investigate the role of cell senescence in systemic sclerosis (SSc), we analyzed telomere shortening (TS) in SSc patients and the effect of targeting DNA damage in the bleomycin model of skin fibrosis. Results Telomere length (

Externí odkaz: https://doaj.org/article/c39d1f7ddcdd4e77af7df6790b4c5c07

TFAM-deficient mouse skin fibroblasts – an ex vivo model of mitochondrial dysfunction

Autor: Manuel J. Del Rey, Carolina Meroño, Cristina Municio, Alicia Usategui, María Mittelbrunn, Inés García-Consuegra, Gabriel Criado, José L. Pablos

Publikováno v: Disease Models & Mechanisms, Vol 14, Iss 8 (2021)

Mitochondrial dysfunction associates with several pathological processes and contributes to chronic inflammatory and ageing-related diseases. Mitochondrial transcription factor A (TFAM) plays a critical role in maintaining mtDNA integrity and functio

Externí odkaz: https://doaj.org/article/1976ea94fa7f478699300552ccb8d024

Hif-1α Knockdown Reduces Glycolytic Metabolism and Induces Cell Death of Human Synovial Fibroblasts Under Normoxic Conditions

Autor: Manuel J. Del Rey, Álvaro Valín, Alicia Usategui, Carmen M. García-Herrero, María Sánchez-Aragó, José M. Cuezva, María Galindo, Beatriz Bravo, Juan D. Cañete, Francisco J. Blanco, Gabriel Criado, José L. Pablos

Publikováno v: Scientific Reports, Vol 7, Iss 1, Pp 1-10 (2017)

Abstract Increased glycolysis and HIF-1α activity are characteristics of cells under hypoxic or inflammatory conditions. Besides, in normal O2 environments, elevated rates of glycolysis support critical cellular mechanisms such as cell survival. The

Externí odkaz: https://doaj.org/article/e4ee554040b04e408dfa0f0ad44bfcfc

Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants

Autor: Lucy Loong, Cankut Cubuk, Subin Choi, Sophie Allen, Beth Torr, Alice Garrett, Chey Loveday, Miranda Durkie, Alison Callaway, George J. Burghel, James Drummond, Rachel Robinson, Ian R. Berry, Andrew Wallace, Diana M. Eccles, Marc Tischkowitz, Sian Ellard, James S. Ware, Helen Hanson, Clare Turnbull, S. Samant, A. Lucassen, A. Znaczko, A. Shaw, A. Ansari, A. Kumar, A. Donaldson, A. Murray, A. Ross, A. Taylor-Beadling, A. Taylor, A. Innes, A. Brady, A. Kulkarni, A.-C. Hogg, A. Ramsay Bowden, A. Hadonou, B. Coad, B. McIldowie, B. Speight, B. DeSouza, B. Mullaney, C. McKenna, C. Brewer, C. Olimpio, C. Clabby, C. Crosby, C. Jenkins, C. Armstrong, C. Bowles, C. Brooks, C. Byrne, C. Maurer, D. Baralle, D. Chubb, D. Stobo, D. Moore, D. O'Sullivan, D. Donnelly, D. Randhawa, D. Halliday, E. Atkinson, E. Baple, E. Rauter, E. Johnston, E. Woodward, E. Maher, E. Sofianopoulou, E. Petrides, F. Lalloo, F. McRonald, F. Pelz, I. Frayling, G. Evans, G. Corbett, G. Rea, H. Clouston, H. Powell, H. Williamson, H. Carley, H.J.W. Thomas, I. Tomlinson, J. Cook, J. Hoyle, J. Tellez, J. Whitworth, J. Williams, J. Murray, J. Campbell, J. Tolmie, J. Field, J. Mason, J. Burn, J. Bruty, J. Callaway, J. Grant, J. Del Rey Jimenez, J. Pagan, J. VanCampen, J. Barwell, K. Monahan, K. Tatton-Brown, K.-R. Ong, K. Murphy, K. Andrews, K. Mokretar, K. Cadoo, K. Smith, K. Baker, K. Brown, K. Reay, K. McKay Bounford, K. Bradshaw, K. Russell, K. Stone, K. Snape, L. Crookes, L. Reed, L. Taggart, L. Yarram, L. Cobbold, L. Walker, L. Hawkes, L. Busby, L. Izatt, L. Kiely, L. Hughes, L. Side, L. Sarkies, K.-L. Greenhalgh, M. Shanmugasundaram, M. Duff, M. Bartlett, M. Watson, M. Owens, M. Bradford, M. Huxley, M. Slean, M. Ryten, M. Smith, M. Ahmed, N. Roberts, C. O'Brien, O. Middleton, P. Tarpey, P. Logan, P. Dean, P. May, P. Brace, R. Tredwell, R. Harrison, R. Hart, R. Kirk, R. Martin, R. Nyanhete, R. Wright, R. Davidson, R. Cleaver, S. Talukdar, S. Butler, J. Sampson, S. Ribeiro, S. Dell, S. Mackenzie, S. Hegarty, S. Albaba, S. McKee, S. Palmer-Smith, S. Heggarty, S. MacParland, S. Greville-Heygate, S. Daniels, S. Prapa, S. Abbs, S. Tennant, S. Hardy, S. MacMahon, T. McVeigh, T. Foo, T. Bedenham, T. Cranston, T. McDevitt, V. Clowes, V. Tripathi, V. McConnell, N. Woodwaer, Y. Wallis, Z. Kemp, G. Mullan, L. Pierson, L. Rainey, C. Joyce, A. Timbs, A.-M. Reuther, B. Frugtniet, C. Husher, C. Lawn, C. Corbett, D. Nocera-Jijon, D. Reay, E. Cross, F. Ryan, H. Lindsay, J. Oliver, J. Dring, J. Spiers, J. Harper, K. Ciucias, L. Connolly, M. Tsang, R. Brown, S. Shepherd, S. Begum, T. Tadiso, T. Linton-Willoughby, H. Heppell, K. Sahan, L. Worrillow, Z. Allen, M. Barlett, C. Watt, M. Hegarty

Publikováno v: Loong, L, Cubuk, C, Choi, S, Allen, S, Torr, B, Garrett, A, Loveday, C, Durkie, M, Callaway, A, Burghel, GJ, Drummond, J, Robinson, R, Berry, IR, Wallace, A & CanVIG-UK 2021, ' Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants. ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 24, no. 3, pp. 552-563 . https://doi.org/10.1016/j.gim.2021.11.011

Purpose: Conditions and thresholds applied for evidence weighting of within-codon concordance (PM5) for pathogenicity vary widely between laboratories and expert groups. Because of the sparseness of available clinical classifications, there is little

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a638418e559b935daf78b3ef4e1f05a
http://hdl.handle.net/10044/1/95227

Copy-number intratumor heterogeneity contributes to predict relapse in chemotherapy-naive stage II colon cancer

Autor: S. Lahoz, F. Nadeu, Rebeca Sanz-Pamplona, J. Del Rey, Jordi Camps, S. Lopez-Prades, Juan José Lozano, Eva Hernández-Illán, M. Cuatrecasas, E. Asensio, Antoni Castells, Q. Ferrer, I. Archilla

Optimal selection of high-risk patients with stage II colon cancer is crucial to ensure clinical benefit of adjuvant chemotherapy after surgery. Here, we investigate the prognostic and predictive value of genomic intratumor heterogeneity and aneuploi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0a0621de0d5efd91dfff315af521efed
https://doi.org/10.1101/2021.04.16.440177