Zobrazeno 1 - 10
of 158
pro vyhledávání: '"Juan G. Puig"'
Autor:
Juan G. Puig, Rosa J. Torres
Publikováno v:
Nucleosides, Nucleotides and Nucleic Acids. 37:261-272
The neurological manifestations of Lesch-Nyhan disease (LND) have been attributed to the effect of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency on nervous system development. An increase has been reported in the levels of 5-aminoi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b558a0a04ebccaaf510e8a6f23becf6b
https://doi.org/10.1080/15257770.2018.1453073
https://doi.org/10.1080/15257770.2018.1453073
Autor:
Juan G. Puig, Rosa J. Torres
Publikováno v:
Journal of Human Genetics. 62:1079-1083
X chromosome inactivation (XCI) ratios of normal females can range from a highly skewed ratio of 0:100 to a 50:50 ratio. In several X-linked disorders, female carriers present skewed X inactivation. Hypoxanthine–guanine phosphoribosyltransferase (H
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc1726f6c8701762eda17fab45834b1b
https://doi.org/10.1038/jhg.2017.88
https://doi.org/10.1038/jhg.2017.88
Publikováno v:
Nucleosides, Nucleotides & Nucleic Acids. 35:507-516
Lesch-Nyhan disease is caused by HGprt deficiency, however, the mechanism by which enzyme deficiency leads to the severe neurological manifestations is still unknown. We hypothesized that hypoxanthine excess leads, directly or indirectly, through its
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1967eb71eb517d73eef3a939cc09451
https://doi.org/10.1080/15257770.2016.1147579
https://doi.org/10.1080/15257770.2016.1147579
Autor:
Rosa J. Torres, Juan G. Puig
Publikováno v:
International journal of rheumatic diseases. 21(6)
Background Patients with deficient hypoxanthine-guanine phosphoribosyltransferase (HPRT) activity present hyperuricemia and/or hyperuricosuria, with a variable degree of neurological manifestations. Hyperuricemia in HPRT deficiency is due to uric aci
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d097a64419dc376eca5f0d4c8885de21
https://pubmed.ncbi.nlm.nih.gov/29879316
https://pubmed.ncbi.nlm.nih.gov/29879316
Autor:
Hyder A. Jinnah, Juan G. Puig, Rosa J. Torres, Christopher C. Porter, Gul Yalcin-Cakmakli, Araceli Menendez, Hasan Fatih Çakmaklı
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Purpose Lesch-Nyhan disease (LND) is an inherited metabolic disorder characterized by overproduction of uric acid and neurobehavioral abnormalities. The purpose of this study is to describe macrocytic erythrocytes as another common aspect of the phen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a460909824dc2eb9c4d397868c88c1b2
https://pubmed.ncbi.nlm.nih.gov/29875418
https://pubmed.ncbi.nlm.nih.gov/29875418
Autor:
Rosa J. Torres, Juan G. Puig
Publikováno v:
Journal of Inherited Metabolic Disease. 38:1109-1118
Neurological manifestations in Lesch-Nyhan disease (LND) are attributed to the effect of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency on the nervous system development. HPRT deficiency causes the excretion of increased amounts of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e49dd02a9f4ca6d302d4c5d658fbc0b8
https://doi.org/10.1007/s10545-015-9854-4
https://doi.org/10.1007/s10545-015-9854-4
Autor:
Celso Amodeo, Marco Antonio Alcocer Gamba, Irina Chazova, Jean-Jacques Mourad, Juan G. Puig, Stefano Taddei, Roland Asmar, Giuseppe Mancia
Publikováno v:
Journal of Hypertension. 33:401-411
Objectives: An international double-blind, parallel-group, randomized controlled trial was performed to determine the efficacy and safety of a new first-line strategy in mild to moderate hypertension based on a single-pill combination of perindopril/
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fe6db5b63f6a10e117dd57d5fe31f08
https://doi.org/10.1097/hjh.0000000000000409
https://doi.org/10.1097/hjh.0000000000000409
Autor:
Matthijs Janssen, Alexander So, Marilyn E. Merriman, Edward Roddy, Lisa K. Stamp, Philip Riches, Ruth Topless, Robert J. Walker, Twj Huizinga, Tony R. Merriman, Lab Joosten, Mariano Andrés, Murray Cadzow, J. de Zoysa, Matthew A. Brown, Geraldine M. McCarthy, Karel Pavelka, Christopher Hill, Fernando Perez-Ruiz, E. de Guzman, Donia Macartney-Coxson, Blanka Stiburkova, Nicola Dalbeth, Ken Yamamoto, Rosa J. Torres, Amanda Phipps-Green, T.L. Jansen, T R D J Radstake, Katie Cremin, Fina A S Kurreeman, S. Lester, Rinki Murphy, R. Stubbs, Linda A. Bradbury, Michael Doherty, E Stahl, Russell R C Buchanan, Abhishek Abhishek, A.-K. Tausche, Hirotaka Matsuo, Sally P.A. McCormick, Hyon K. Choi, Tanya J Flynn, Frédéric Lioté, Maureen Rischmueller, Juan G. Puig, Malcolm D. Smith
Publikováno v:
Poster Presentations.
Background Gout progresses through three stages: hyperuricemia, deposition of monosodium urate (MSU) crystals, and innate immune system response to MSU crystals. Genome wide association studies (GWAS) have provided insight into the molecular control
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0b7fc887f8950742f971d64b7120e1da
https://doi.org/10.1136/annrheumdis-2017-eular.5634
https://doi.org/10.1136/annrheumdis-2017-eular.5634
Publikováno v:
The Journal of Rheumatology. 41:1863-1870
Objective.Primary gout has been associated with single-nucleotide polymorphisms (SNP) in several tubular urate transporter genes. No study has assessed the association of reabsorption and secretion urate transporter gene SNP with gout in a single coh
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2aa5bee0fb6f3e7695be1d01664835d
https://doi.org/10.3899/jrheum.140126
https://doi.org/10.3899/jrheum.140126
Autor:
M Teresa Rodríguez, Juan G. Puig, M Luisa Llena, Nicolás M González Senac, Rosa J. Torres, Marta Migoya, Rebeca Bailén, Mónica M López, Eugenio de Miguel
Publikováno v:
Nucleosides, Nucleotides and Nucleic Acids. 33:174-180
Pharmacologic urate lowering therapy (ULT), at full maintenance doses, has been associated with acute gout arthritis (in up to 80% of patients). The American College of Rheumatology has recently advocated gradually titrating the maintenance dose upwa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a9859e0d52a3685f8be21476be7bfbe
https://doi.org/10.1080/15257770.2013.853786
https://doi.org/10.1080/15257770.2013.853786