Results 41 to 50 of about 617,774 (332)

Acquired cystic disease and renal cell carcinoma in hemodialysis patients: A case report on three patients [PDF]

Vojnosanitetski Pregled, 2015
Introduction. Renal cell carcinoma (RCC) is derived from renal tubular epithelial cells and represents approximately 3.8% of all malignancies in adults. The incidence of renal cell carcinoma has been growing steadily and ranging from 0.6 to 14.7
Mijušković Mirjana, Milović Novak, Kovačević Božidar, Jovanović Dragan, Stefanović Dara, Ignjatović Ljiljana, Terzić Brankica, Tadić-Pilčević Jelena, Petrović Marijana, Pilčević Dejan, Obrenčević Katarina, Cerović Snežana   +11 more
doaj   +1 more source

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

Unraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw, Karishma Randhave, Ekta Anand, Ziang (Debbie) Song, Wangzhen Shen, Jing‐Qiong Kang   +5 more
wiley   +1 more source

Ciliopathies and the Kidney: A Review.

American Journal of Kidney Diseases, 2020
Primary cilia are specialized sensory organelles that protrude from the apical surface of most cell types. Over the past two decades, they have been found to play important roles in tissue development and signal transduction, with mutations in ciliary ...
Dominique J. Mcconnachie, J. Stow, A. Mallett   +2 more
semanticscholar   +1 more source

Bacteria‐Responsive Nanostructured Drug Delivery Systems for Targeted Antimicrobial Therapy

Advanced Materials, EarlyView.
Bacteria‐responsive nanocarriers are designed to release antimicrobials only in the presence of infection‐specific cues. This selective activation ensures drug release precisely at the site of infection, avoiding premature or indiscriminate release, and enhancing efficacy.
Guillermo Landa, Gracia Mendoza, Silvia Irusta, Manuel Arruebo   +3 more
wiley   +1 more source

Emerging Therapies for Childhood Polycystic Kidney Disease

Frontiers in Pediatrics, 2017
Cystic kidney diseases comprise a varied collection of hereditary disorders, where renal cysts comprise a major element of their pleiotropic phenotype.
William E. Sweeney, Ellis D. Avner
doaj   +1 more source

Primary URECs: a source to better understand the pathology of renal tubular epithelia in pediatric hereditary cystic kidney diseases

Orphanet Journal of Rare Diseases, 2022
Background In pediatric hereditary cystic kidney diseases, epithelial cell defects mostly result from rare, autosomal recessively inherited pathogenic variants in genes encoding proteins of the cilia-centrosome complex.
Wolfgang H. Ziegler, Sarah Lüdiger, Fatima Hassan, Margarita E. Georgiadis, Kathrin Swolana, Amrit Khera, Arne Mertens, Doris Franke, Kai Wohlgemuth, Mareike Dahmer-Heath, Jens König, Claudia Dafinger, Max C. Liebau, Metin Cetiner, Carsten Bergmann, Birga Soetje, Dieter Haffner   +16 more
doaj   +1 more source

Ultrasound‐Actuated Gene Editing in Human Kidney Organoids

Advanced Science, EarlyView.
Peptide‐stabilized nanoemulsions enable spatially controlled, ultrasound‐triggered delivery of gene‐editing proteins deep within human kidney organoid tissues. Focused acoustic pulses drive droplet vaporization, propelling cargo into target renal cells while preserving native tissue microarchitecture. This non‐viral platform improves both the depth and
Michael A. Miller, Nicole Vo, Utkarsh, Ivan Sokirniy, Justin Pritchard, Benjamin S. Freedman, Scott H. Medina   +6 more
wiley   +1 more source

FUCA2 Sustains AKT Signaling and Suppresses Senescence by Antagonizing FUT3‐Mediated ErbB3 Fucosylation in Lung Adenocarcinoma

Advanced Science, EarlyView.
ABSTRACT While targeted therapies have improved outcomes in lung adenocarcinoma (LUAD), many patients still lack targetable mutations. Here, we identified alpha‐L‐fucosidase 2 (FUCA2) as a crucial driver of LUAD by preventing cellular senescence. Mechanistically, through the restriction of fucosyltransferase 3 (FUT3)‐mediated α‐1,3‐fucosylation of ...
Lu Chen, Jintao Guo, Fei Li, Mingjie Gao, Runyang Li, Zhaozhang Huang, Yaolin Zheng, Chunyi Gao, Jihuan Hou, Qiang Yu, Bowen Zheng, Xuemei Chen, Wenqing Zhang, Xiaoting Hong, Yali Zheng, Daxuan Wang, Qiyuan Li, Tianhui Hu, Yan‐yan Zhan   +18 more
wiley   +1 more source

Cystic diseases of the kidney: ciliary dysfunction and cystogenic mechanisms

Pediatric nephrology (Berlin, West), 2010
Ciliary dysfunction has emerged as a common factor underlying the pathogenesis of both syndromic and isolated kidney cystic disease, an observation that has contributed to the unification of human genetic disorders of the cilium, the ciliopathies.
C. Gascue, N. Katsanis, José L. Badano
semanticscholar   +1 more source