Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Domingo Aguilera-Garcia"'
Autor:
Peter Schraml, Fabio Aimi, Martin Zoche, Domingo Aguilera‐Garcia, Fabian Arnold, Holger Moch, Michael O Hottiger
Publikováno v:
The Journal of Pathology: Clinical Research, Vol 9, Iss 4, Pp 273-284 (2023)
Abstract ADP‐ribosylation (ADPR) of proteins is catalyzed by ADP‐ribosyltransferases, which are targeted by inhibitors (i.e. poly(ADP‐ribose) polymerase inhibitors [PARPi]). Although renal cell carcinoma (RCC) cells are sensitive in vitro to PA
Externí odkaz:
https://doaj.org/article/55e05afe0c5e466fb804e85911cafbf8
Autor:
Raphael O. Betschart, Alexandre Thiéry, Domingo Aguilera-Garcia, Martin Zoche, Holger Moch, Raphael Twerenbold, Tanja Zeller, Stefan Blankenberg, Andreas Ziegler
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-11 (2022)
Abstract Rapid advances in high-throughput DNA sequencing technologies have enabled the conduct of whole genome sequencing (WGS) studies, and several bioinformatics pipelines have become available. The aim of this study was the comparison of 6 WGS da
Externí odkaz:
https://doaj.org/article/e28a449f484640c3b5dbb2ca21b8eaaa
Autor:
Lara Planas‐Paz, Alicia Pliego‐Mendieta, Catherine Hagedorn, Domingo Aguilera‐Garcia, Martina Haberecker, Fabian Arnold, Marius Herzog, Lorenz Bankel, Roman Guggenberger, Sabrina Steiner, Yanjiang Chen, Abdullah Kahraman, Martin Zoche, Mark A Rubin, Holger Moch, Christian Britschgi, Chantal Pauli
Publikováno v:
EMBO Molecular Medicine, Vol 15, Iss 4, Pp n/a-n/a (2023)
Abstract Defects in homologous recombination repair (HRR) in tumors correlate with poor prognosis and metastases development. Determining HRR deficiency (HRD) is of major clinical relevance as it is associated with therapeutic vulnerabilities and rem
Externí odkaz:
https://doaj.org/article/d874520ba4d8464eacd895ed33371d67
Autor:
Peter Schraml, Fabio Aimi, Martin Zoche, Domingo Aguilera‐Garcia, Fabian Arnold, Holger Moch, Michael O Hottiger
Publikováno v:
The Journal of Pathology: Clinical Research.
Autor:
Rosa Riveiro-Alvarez, Domingo Aguilera-Garcia, Fiona Blanco-Kelly, Ana Arteche, Inmaculada Martin-Merida, Marta Corton, I. Lorda-Sánchez, Almudena Avila-Fernandez, Marta Del Pozo-Valero, María José Trujillo-Tiebas, Blanca Garcia-Sandoval, Raquel Perez-Carro, Saoud Tahsin-Swafiri, Olga Zurita, Carmen Ayuso, Elvira Rodriguez-Pinilla
Publikováno v:
Ophthalmology. 126:1181-1188
Purpose We aimed to unravel the molecular basis of sporadic retinitis pigmentosa (sRP) in the largest cohort reported to date. Design Case series. Participants A cohort of 877 unrelated Spanish sporadic cases with a clinical diagnosis of retinitis pi
Autor:
Patricia Ramos, María José Sánchez-Soler, Alison Stewart, Nicolas Chassaing, Jonathan Bruty, Patrick Calvas, Domingo Aguilera-Garcia, Helen Stewart, Dominic J. McMullan, Dorine Bax, Yvonne Wallis, Alan Fryer, Anand Saggar, Carmen Ayuso, Cristina Villaverde, Fabiola Ceroni, Marta Corton, Luciana Rodrigues Jacy da Silva, Lisa Cooper-Charles, Michael J. Griffiths, Victoria McKay, Jonathan Hoffman, Maria Tarilonte, David J. Bunyan, María Juliana Ballesta-Martínez, Nicola K. Ragge, Richard J. Holt, Katherine Lachlan, Fiona Blanco-Kelly, Joelle Roume, Pascal Dureau
Publikováno v:
Human Genetics
Human Genetics, 2019, 138 (8-9), pp.1027-1042. ⟨10.1007/s00439-018-1875-2⟩
Human Genetics, 2019, 138 (8-9), pp.1027-1042. ⟨10.1007/s00439-018-1875-2⟩
International audience; GJA8 encodes connexin 50 (Cx50), a transmembrane protein involved in the formation of lens gap junctions. GJA8 mutations have been linked to early onset cataracts in humans and animal models. In mice, missense mutations and ho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::122f27747b3dc12ebac73973e54e0086
https://ut3-toulouseinp.hal.science/hal-03542896
https://ut3-toulouseinp.hal.science/hal-03542896
Autor:
Inmaculada, Martin-Merida, Almudena, Avila-Fernandez, Marta, Del Pozo-Valero, Fiona, Blanco-Kelly, Olga, Zurita, Raquel, Perez-Carro, Domingo, Aguilera-Garcia, Rosa, Riveiro-Alvarez, Ana, Arteche, Maria Jose, Trujillo-Tiebas, Saoud, Tahsin-Swafiri, Elvira, Rodriguez-Pinilla, Isabel, Lorda-Sanchez, Blanca, Garcia-Sandoval, Marta, Corton, Carmen, Ayuso
Publikováno v:
Ophthalmology. 126(8)
We aimed to unravel the molecular basis of sporadic retinitis pigmentosa (sRP) in the largest cohort reported to date.Case series.A cohort of 877 unrelated Spanish sporadic cases with a clinical diagnosis of retinitis pigmentosa (RP) and negative fam
Autor:
Almudena Avila-Fernandez, Jose P Fernandez-San, Berta Almoguera, Carmen Ayuso, Blanca Garcia-Sandoval, Miguel Carballo, Fiona Blanco-Kelly, Inmaculada Martin-Merida, Domingo Aguilera-Garcia, Marta Corton, Ana Arteche, Olga Zurita, Pablo Minguez
Publikováno v:
Investigative ophthalmologyvisual science. 59(6)
Purpose To provide a comprehensive overview of the molecular basis of autosomal dominant retinitis pigmentosa (adRP) in Spanish families. Thus, we established the molecular characterization rate, gene prevalence, and mutational spectrum in the larges