Zobrazeno 1 - 10
of 103
pro vyhledávání: '"Rosa J. Torres"'
Autor:
Paula Escudero-Ferruz, Neus Ontiveros, Claudia Cano-Estrada, Diane J. Sutcliffe, H. A. Jinnah, Rosa J. Torres, José M. López
Publikováno v:
Molecular Medicine, Vol 30, Iss 1, Pp 1-20 (2024)
Abstract Background Lesch-Nyhan disease (LND) is a severe neurological disorder caused by the genetic deficiency of hypoxanthine–guanine phosphoribosyltransferase (HGprt), an enzyme involved in the salvage synthesis of purines. To compensate this d
Externí odkaz:
https://doaj.org/article/830ee5f58ba54cb1a6a2b21e4d1e1c43
Autor:
Kendrah Kidd, Petr Vylet’al, Céline Schaeffer, Eric Olinger, Martina Živná, Kateřina Hodaňová, Victoria Robins, Emily Johnson, Abbigail Taylor, Lauren Martin, Claudia Izzi, Sofia C. Jorge, Joaquim Calado, Rosa J. Torres, Karl Lhotta, Dominik Steubl, Daniel P. Gale, Christine Gast, Eva Gombos, Hannah C. Ainsworth, Ying Maggie Chen, Jorge Reis Almeida, Cintia Fernandes de Souza, Catarina Silveira, Rita Raposeiro, Nelson Weller, Peter J. Conlon, Susan L. Murray, Katherine A. Benson, Gianpiero L. Cavalleri, Miroslav Votruba, Alena Vrbacká, Antonio Amoroso, Daniela Gianchino, Gianluca Caridi, Gian Marco Ghiggeri, Jasmin Divers, Francesco Scolari, Olivier Devuyst, Luca Rampoldi, Stanislav Kmoch, Anthony J. Bleyer
Publikováno v:
Kidney International Reports, Vol 5, Iss 9, Pp 1472-1485 (2020)
Introduction: Autosomal dominant tubulo-interstitial kidney disease due to UMOD mutations (ADTKD-UMOD) is a rare condition associated with high variability in the age of end-stage kidney disease (ESKD). The minor allele of rs4293393, located in the p
Externí odkaz:
https://doaj.org/article/8ab1799f3ce441279d9513d18436243b
Autor:
Nicholas A. Sumpter, Riku Takei, Murray Cadzow, Ruth K. G. Topless, Amanda J. Phipps‐Green, Rinki Murphy, Janak de Zoysa, Huti Watson, Muhammad Qasim, Alexa S. Lupi, Abhishek Abhishek, Mariano Andrés, Tania O. Crișan, Michael Doherty, Lennart Jacobsson, Matthijs Janssen, Tim L. Jansen, Leo A. B. Joosten, Meliha Kapetanovic, Frédéric Lioté, Hirotaka Matsuo, Geraldine M. McCarthy, Fernando Perez‐Ruiz, Philip Riches, Pascal Richette, Edward Roddy, Blanka Stiburkova, Alexander So, Anne‐Kathrin Tausche, Rosa J. Torres, Till Uhlig, Tanya J. Major, Lisa K. Stamp, Nicola Dalbeth, Hyon K. Choi, Ana I. Vazquez, Megan P. Leask, Richard J. Reynolds, Tony R. Merriman
Publikováno v:
Arthritis & Rheumatology, 75, 816-825
Arthritis & Rheumatology, 75, 5, pp. 816-825
Arthritis & Rheumatology, 75, 5, pp. 816-825
Item does not contain fulltext OBJECTIVE: To determine whether a gout polygenic risk score (PRS) is associated with age at gout onset and tophaceous disease in European, East Polynesian, and West Polynesian men and women with gout. METHODS: A 19-vari
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::237258ce0f3468815af550aa92386a3d
https://hdl.handle.net/2066/292878
https://hdl.handle.net/2066/292878
Autor:
Daniel G Calame, Cristina Moreno Vadillo, Seth Berger, Timothy Lotze, Marwan Shinawi, Javaher Poupak, Corina Heller, Julie Cohen, Richard Person, Aida Telegrafi, Chalongchai Phitsanuwong, Kaylene Fiala, Isabelle Thiffault, Florencia Del Viso, Dihong Zhou, Emily A Fleming, Tomi Pastinen, Ali Fatemi, Sruthi Thomas, Samuel I Pascual, Rosa J Torres, Carmen Prior, Clara Gómez-González, Saskia Biskup, James R Lupski, Dragan Maric, Miguel Holmgren, Debra Regier, Sho T Yano
Publikováno v:
Brain.
ATP1A3 encodes the α3 subunit of the sodium-potassium ATPase, one of two isoforms responsible for powering electrochemical gradients in neurons. Heterozygous pathogenic ATP1A3 variants produce several distinct neurological syndromes, yet the molecul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::820c961c807b1c4c6560ab3f815afabe
https://doi.org/10.1093/brain/awad124
https://doi.org/10.1093/brain/awad124
Autor:
Katarina Štajer, Neja Kovač, Jaka Šikonja, Matej Mlinaric, Sara Bertok, Jernej Brecelj, Maruša Debeljak, Jernej Kovac, Gašper Markelj, David Neubauer, Rina Rus, Mojca Žerjav Tanšek, Ana Drole Torkar, Aleksandra Zver, Tadej Battelino, Rosa J. Torres, Urh Groselj
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::426a4ea4010e088de1b0a7af07792e1a
https://doi.org/10.2139/ssrn.4416283
https://doi.org/10.2139/ssrn.4416283
Autor:
Rosa J. Torres
Publikováno v:
Nucleosides, Nucleotides & Nucleic Acids. 39:1424-1431
Gout is the most common arthritis and it is associated to urate monosodium crystals deposits in articulations, kidney and soft tissue. The urate monosodium crystals deposit initiates an inflammatory response; mediated by NLRP3 inflammasome, with the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16f6f7263d2cce65041782e7d9cb006c
https://doi.org/10.1080/15257770.2020.1780438
https://doi.org/10.1080/15257770.2020.1780438
Autor:
Fernando Perez-Ruiz, Alexander So, Anne-Katherin Tausche, Fina A S Kurreeman, Philip Riches, Amanda Phipps-Green, Geraldine M. McCarthy, Greg G. Gamble, Jeffrey N. Miner, Leo A. B. Joosten, Faseeh Zaidi, Ravi K. Narang, Nicola Dalbeth, T.L.Th.A. Jansen, Matthijs Janssen, Lisa K. Stamp, Tony R. Merriman, Michael Doherty, Mariano Andrés, Rosa J. Torres
Publikováno v:
Rheumatology, 59, 2544-2549
Rheumatology, 59, 9, pp. 2544-2549
Rheumatology, 59, 9, pp. 2544-2549
Objective The aim of this study was to examine whether serum urate-associated genetic variants are associated with early-onset gout. Methods Participants with gout in the Genetics of Gout in Aotearoa study with available genotyping were included (n =
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::def0f1299465b1c86add3c73ffbaab04
https://hdl.handle.net/2066/225801
https://hdl.handle.net/2066/225801
Publikováno v:
Pediatric neurology. 127
Introduction Lesch-Nyhan disease (LND) is a disease of purine metabolism linked to chromosome X due to the absence or near-absence of enzyme HGPRT. LND patients have a compulsive autoaggressive behaviour that consists on self-mutilation by biting. Ob
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b2f3655285921261a030466dffe4b9f
https://pubmed.ncbi.nlm.nih.gov/34891105
https://pubmed.ncbi.nlm.nih.gov/34891105
Autor:
Rosa J. Torres
Publikováno v:
Expert Opinion on Orphan Drugs. 7:349-361
Introduction: Lesch–Nyhan disease (LND) is an inborn error of purine metabolism characterized by hyperuricemia, severe action dystonia, choreoathetosis, ballismus, cognitive and attention d...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f83bc888e513d6717120ce0eac1403ce
https://doi.org/10.1080/21678707.2019.1652597
https://doi.org/10.1080/21678707.2019.1652597
Autor:
Esther L Outtrim, Rong Fu, Hyder A. Jinnah, Diane J. Sutcliffe, Rosa J. Torres, José M. López
Publikováno v:
Proc Natl Acad Sci U S A
Lesch-Nyhan disease (LND), caused by a deficient salvage purine pathway, is characterized by severe neurological manifestations and uric acid overproduction. However, uric acid is not responsible for brain dysfunction, and it has been suggested that
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1669550e0746fc30dfda3115ca79372f
https://pubmed.ncbi.nlm.nih.gov/32430324
https://pubmed.ncbi.nlm.nih.gov/32430324