Results 21 to 30 of about 20,236 (164)

Therapy with 2′-O-Me Phosphorothioate Antisense Oligonucleotides Causes Reversible Proteinuria by Inhibiting Renal Protein Reabsorption

Molecular Therapy: Nucleic Acids, 2019
Antisense oligonucleotide therapy has been reported to be associated with renal injury. Here, the mechanism of reversible proteinuria was investigated by combining clinical, pre-clinical, and in vitro data.
Manoe J. Janssen, Tom T.G. Nieskens, Tessa A.M. Steevels, Pedro Caetano-Pinto, Dirk den Braanker, Melissa Mulder, Yolanda Ponstein, Shaun Jones, Rosalinde Masereeuw, Cathaline den Besten, Martijn J. Wilmer   +10 more
doaj   +1 more source

Megalin Knockout Mice as an Animal Model of Low Molecular Weight Proteinuria [PDF]

The American Journal of Pathology, 1999
Megalin is an endocytic receptor expressed on the luminal surface of the renal proximal tubules. The receptor is believed to play an important role in the tubular uptake of macromolecules filtered through the glomerulus. To elucidate the role of megalin in vivo and to identify its endogenous ligands, we analyzed the proximal tubular function in mice ...
Leheste, J.-R., Rolinski, B., Vorum, Henrik, Hilpert, J., Nykjær, Anders, Jacobsen, Christian, Aucouturier, P., Moskaug, J.Ø., Otto, A., Christensen, Erik Ilsø, Willnow, T.E.   +10 more
openaire   +3 more sources

Next-Generation Sequencing in Early Diagnosis of Dent Disease 1: Two Case Reports

Frontiers in Medicine, 2018
Dent disease 1 is a rare X-linked recessive inherited disease, caused by pathogenic variants in the chloride voltage-gated channel 5 (CLCN5) gene. Dent disease 1 is characterized by low molecular weight (LMW) proteinuria, hypercalciuria, nephrocalcinosis,
Min Wen, Min Wen, Tian Shen, Tian Shen, Ying Wang, Ying Wang, Yongzhen Li, Yongzhen Li, Xiaoliu Shi, Xiqiang Dang, Xiqiang Dang   +10 more
doaj   +1 more source

The long-term use of enalapril and hydrochlorothiazide in two novel mutations patients with Dent's disease type 1

Brazilian Journal of Nephrology, 2012
Dent's disease type 1 is an X-linked tubular disease caused by mutations in the renal chloride channel CLCN-5, and it is characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis, and renal failure.
Maria Helena Vaisbich, Luciana dos Santos Henriques, Takashi Igarashi, Takashi Sekine, George Seki, Vera H Koch   +5 more
doaj   +1 more source

Generation of a human induced pluripotent stem cell line from a patient with dent disease

Stem Cell Research, 2023
Dent disease, an X-linked tubular disorder, is a rare condition that leads to low-molecular-weight proteinuria, hypercalciuria, kidney stones, and chronic kidney disease.
Xianying Fang, Ji Hyun Kim, Sheng Cui, Yoo Jin Shin, Hanbi Lee, Eun Jeong Ko, Hae Il Cheong, Sejoong Kim, Hoon Seok Kim, Myungshin Kim, Chul Woo Yang, Sun Woo Lim, Byung Ha Chung   +12 more
doaj   +1 more source

Renal Effects and Underlying Molecular Mechanisms of Long-Term Salt Content Diets in Spontaneously Hypertensive Rats. [PDF]

PLoS ONE, 2015
Several evidences have shown that salt excess is an important determinant of cardiovascular and renal derangement in hypertension. The present study aimed to investigate the renal effects of chronic high or low salt intake in the context of hypertension ...
Rebeca Caldeira Machado Berger, Paula Frizera Vassallo, Renato de Oliveira Crajoinas, Marilene Luzia Oliveira, Flávia Letícia Martins, Breno Valentim Nogueira, Daisy Motta-Santos, Isabella Binotti Araújo, Ludimila Forechi, Adriana Castello Costa Girardi, Robson Augusto Souza Santos, José Geraldo Mill   +11 more
doaj   +1 more source

Decoding Hypercalcemia and Renal Stones in a Young Adult: Could it be Dent’s Disease?

Clinical Medicine Insights: Case Reports, 2023
Dent’s disease is a rare genetic kidney disorder characterized by proximal tubular dysfunction, nephrocalcinosis, recurrent nephrolithiasis, and chronic kidney disease. Hypercalcemia is a rare finding in this disease. In this report, we present a case of
Meriam Hajji, Hayet Kaaroud, Fethi Ben Hamida, Ezzeddine Abderrahim   +3 more
doaj   +1 more source

Dent Disease 1 Presented Early with Bartter-Like Syndrome Features and Rickets: A Case Report

Case Reports in Nephrology and Dialysis
Introduction: Dent disease (DD) is characterized by a triad of low-molecular-weight proteinuria, hypercalciuria, and nephrocalcinosis/nephrolithiasis.
Cahyani Gita Ambarsari, Habibah Azzahra Putri Agianda, Meilania Saraswati, Jon Jin Kim   +3 more
doaj   +1 more source

Characterization of pre-mRNA Splicing Defects Caused by CLCN5 and OCRL Mutations and Identification of Novel Variants Associated with Dent Disease

Biomedicines, 2023
Dent disease (DD) is an X-linked renal tubulopathy characterized by low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis and progressive renal failure.
Glorián Mura-Escorche, Ana Perdomo-Ramírez, Elena Ramos-Trujillo, Carmen Jane Trujillo-Frías, Félix Claverie-Martín   +4 more
doaj   +1 more source

Effect of growth hormone replacement therapy in a boy with Dent's disease: a case report

Journal of Medical Case Reports, 2011
Introduction Dent's disease is an X-linked recessive proximal tubulopathy characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis and progressive renal failure.
Ludwig Michael, Pavicevic Snezana, Samardzic Mira, Bogdanovic Radovan   +3 more
doaj   +1 more source