10 documents found, page 1 of 1
Autosomal Dominant Polycystic Kidney Disease Inflammation Biomarkers in the Tol...
Lapão, Tânia; Barata, Rui; Jorge, Cristina; Flores, Carlos; Calado, JoaquimWith the approval of tolvaptan as the first specific medicine for the treatment of rapidly progressive Autosomal Dominant Polycystic Kidney Disease (ADPKD), biomarker discovery has gained renewed interest as it is widely recognized that these will be crucial in clinical decision-making, serving as either prognostic or predictive tools. Since the marketing authorization was first issued in 2015 for ADPKD, tolvap...
Outcomes from the International Society of Nephrology Hemolytic Uremic Syndrome...
Kavanagh, David; Ardissino, Gianluigi; Brocklebank, Vicky; Bouwmeester, Romy N.; Bagga, Arvind; ter Heine, Rob; Johnson, Sally; Licht, ChristophFunding Information: D.K. has received advisory board payments from Idorsia, Novartis, Chemocentryx, Alexion, Samsung, Sobi, Gyroscope Therapeutics, Purespring and Apellis. G.A. has received honoraria from Alexion Pharmaceuticals, Alnylam, Roche Novartis and Sobi for giving lectures, and for participating in advisory boards. C.L. has received honoraria as advisor or speaker from Alexion, AstraZeneca Rare Diseas...
Bi-allelic variants in COQ8B, a gene involved in the biosynthesis of coenzyme Q...
Iglesias-Romero, Ana Belén; Kaminska, Karolina; Quinodoz, Mathieu; Folcher, Marc; Lin, Siying; Arno, Gavin; Calado, Joaquim; Webster, Andrew RCopyright © 2024 The Authors. Published by Elsevier Inc. All rights reserved.; Retinitis pigmentosa (RP) is a Mendelian disease characterized by gradual loss of vision, due to the progressive degeneration of retinal cells. Genetically, it is highly heterogeneous, with pathogenic variants identified in more than 100 genes so far. Following a large-scale sequencing screening, we identified five individuals (four ...
Performance of the ACMG-AMP criteria in a large familial renal glucosuria cohor...
Barata, Rui; Fila, Marc; Dalla-Vale, Fabienne; Bogarin, Roberto; Nunes, Paula; Ramalho, José; Rueff, Jose; Calado, JoaquimFunding Information: This work was supported by grant UID/BIM/00009/2016, Portuguese Science and Technology Foundation. Publisher Copyright: © 2023 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.; Familial Renal Glucosuria (FRG) is a co-dominantly inherited trait characterized by orthoglycaemic glucosuria. From 2003 to 2015 we have reported several cohorts validating SLC5A2 (16p11.2), encoding SGLT2 ...
Oxalate (dys)Metabolism
Baltazar, Pedro; de Melo Junior, Antonio Ferreira; Fonseca, Nuno Moreira; Lança, Miguel Brito; Faria, Ana; Sequeira, Catarina O.; Teixeira-Santos, LuísaFunding Information: The authors would like to thank the Associação Portuguesa de Urologia, for funding the project “Precision Urology: Metabolic Phenotype of Patients with Metabolic Syndrome Traits and Recurrent Nephrolithiasis—Metabolomics and Recurrence Assessment”. iNOVA4Health research program (UIDP/04462/2020) is also acknowledged to support Judit Morello. Publisher Copyright: © 2023 by the authors.; Oxal...
Cysteine as a Multifaceted Player in Kidney, the Cysteine-Related Thiolome and ...
Correia, Maria João; Pimpão, António B.; Fernandes, Dalila G.F.; Morello, Judit; Sequeira, Catarina O.; Calado, Joaquim; Antunes, Alexandra M.M.Funding Information: This research was supported by Fundação para a Ciência e Tecnologia (PTDC/MED-TOX/30418/2017) and iNOVA4Health (UID/Multi/04462/2013). M.J.C., D.G.F.F. and J.M. were supported by FCT (PhD grant SFRH/BD/131331/2017, PhD grant PD/BD/135484/2018 and postdoctoral contract PTDC/MED-TOX/30418/2017, respectively).; In this review encouraged by original data, we first provided in vivo evidence that...
Zebrafish model as a screen to prevent cyst inflation in autosomal dominant pol...
Oliveira, Inês; Jacinto, Raquel; Pestana, Sara; Nolasco, Fernando; Calado, Joaquim; Lopes, Susana Santos; Roxo-Rosa, MónicaFunding Information: Funding: This work was supported by Sociedade Portuguesa de Nefrologia, iNOVA4Health-UID/Multi/04462/2013 (a program financially supported by Fundação para a Ciência e Tecnolo-gia (FCT)/Ministério da Educação e Ciência, through national funds and co-funded by FEDER under the PT2020 Partnership Agreement) and FCT-ANR/BEX-BID/0153/2012 and PTDC/BEX-BID/1411/2014 research grants. M.R.R. was su...
Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Do...
Kidd, Kendrah; Vylet'al, Petr; Schaeffer, Céline; Olinger, Eric; Živná, Martina; Hodaňová, Kateřina; Robins, Victoria; Johnson, Emily; Taylor, AbbigailIntroduction: 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 promoter of the UMOD gene, is present in 19% of the population and downregulates uromodulin production by approximately 50% and might affect the age of ESKD. The goa...
Efeito da empagliflozina para além do controlo glicémico
Monteiro, Pedro; Aguiar, Carlos; Matos, Pedro; Silva‐Nunes, José; Birne, Rita; Branco, Patrícia; Calado, Joaquim; Melo, Miguel; Polónia, JorgeThe prevalence of type 2 diabetes (T2D) continues to increase, and its association with cardiovascular (CV) disease has led to the inclusion of CV endpoints in clinical trials on the treatment of T2D. This article explores the various trials already performed and under development in this field, with particular focus on the EMPA‐REG OUTCOME trial. In this trial, empagliflozin, a sodium‐glucose co‐transporter 2 ...
A novel heterozygous missense mutation in the UMOD gene responsible for Familia...
Calado, Joaquim; Gaspar, Augusta; Clemente, Carla; Rueff, JoseBackground: Familial Juvenile Hyperuricemic Nephropathy is an autosomal dominant nephropathy, characterized by decreased urate excretion and progressive interstitial nephritis. Mutations in the uromodulin coding UMOD gene have been found responsible for the disease in some families. Case presentation: We here describe a novel heterozygous p. K307T mutation in an affected female with hyperuricemia, renal cysts a...