Results 81 to 90 of about 6,860 (229)

In Vitro and In Vivo Models to Study Nephropathic Cystinosis

Cells, 2021
The development over the past 50 years of a variety of cell lines and animal models has provided valuable tools to understand the pathophysiology of nephropathic cystinosis. Primary cultures from patient biopsies have been instrumental in determining the
Pang Yuk Cheung, Patrick T. Harrison, Alan J. Davidson, Jennifer A. Hollywood   +3 more
doaj   +1 more source

Evaluation of NACA and diNACA in human cystinosis fibroblast cell cultures as potential treatments for cystinosis

Orphanet Journal of Rare Diseases, 2022
Background Cystinosis is a rare autosomal recessive lysosomal storage disease, associated with high morbidity and mortality. Mutations in the CTNS gene disable a membrane protein responsible for the transport of cystine out of the lysosome.
E. Hector, D. Cairns, G. Michael Wall
semanticscholar   +1 more source

Unraveling Fanconi Syndrome: Severe Proximal Tubulopathy, Osteomalacia in a 27‐Year‐Old Male on TDF‐Based HIV Regimen: A Case Report

Case Reports in Nephrology, Volume 2026, Issue 1, 2026.
This case report delves into the complex presentation of Fanconi syndrome (FS) associated with tenofovir disoproxil fumarate (TDF) use in a 27‐year‐old male diagnosed with HIV. The patient exhibited severe proximal tubulopathy and osteomalacia, emphasizing the need for vigilant monitoring in individuals on TDF‐based regimens.
Lavender Otom, Ben Lomatayo, Farida Kaittany, Priyanka Panwar, Ze’ev Korzets   +4 more
wiley   +1 more source

Cystinosis : a new perspective

, 2016
Cystinosis is a rare, autosomal recessive inherited lysosomal storage disease. It is the most frequent and potentially treatable cause of the inherited renal Fanconi syndrome. If left untreated, renal function rapidly deteriorates towards end-stage renal
Casteels, Ingele, Besouw, Martine T.P., Levtchenko, Elena N, Veys, Koenraad RP, Van Dyck, Maria, BESOUW, MARTINE, Pinxten, Anne-Marie, Veys, Koenraad R.P., Levtchenko, Elena N., Dyck, Maria Van   +9 more
core   +1 more source

Engineered Plasmonic and Fluorescent Nanomaterials for Biosensing, Motion, Imaging, and Therapeutic Applications

Advanced Materials, Volume 37, Issue 49, December 10, 2025.
A schematic illustration of how noble metals can be used to create nanoparticles (NPs) or nanoclusters (NCs). Noble metal NPs, due to their plasmonic properties, enable photothermal therapy and surface‐enhanced Raman scattering (SERS). In contrast, NCs, which lack a plasmonic resonance band, exhibit fluorescence, making them ideal for bioimaging ...
David Esporrín‐Ubieto, Juan C. Fraire, Daniel Sánchez‐deAlcázar, Samuel Sánchez   +3 more
wiley   +1 more source

Infantile nephropathic cystinosis

, 2011
Introduction. Infantile nephropathic cystinosis (INC) is a metabolic disorder due to impaired carrier-mediated transport of cystine out of cellular lysosomes. Objective.
Kostić Mirjana, Kovačević Dragana, Spasojević Brankica, Bogdanović Radovan, Paripović Dušan, Peco-Antić Amira, Đorđević Maja   +6 more
core   +2 more sources

Quality of life and mental health status in caregivers of pediatric patients with nephropathic cystinosis

Orphanet Journal of Rare Diseases
There are few studies assessing psychological burden and quality of life (QoL) in caregivers of pediatric patients with nephropathic cystinosis, a severe chronic disease.
K. González, Teresa Eixarch, L. Núñez, Gema Ariceta   +3 more
semanticscholar   +1 more source

Cognitive functions and behavioural profiles in children with cystinosis treated with cysteamine and correlation with treatment duration

Middle East Current Psychiatry, 2022
Background Cystinosis is a rare autosomal recessive disease. Children with nephropathic cystinosis (NCTN) have evidence of intellectual dysfunction and behavioural abnormalities which are attributed to renal dysfunction, metabolic disarrangement, and ...
Fatma M. Atia, Weam Ryad Alfaleet, Somaya H. Shaheen, Neveen A. Soliman   +3 more
doaj   +1 more source

Use of Human Induced Pluripotent Stem Cells and Kidney Organoids To Develop a Cysteamine/mTOR Inhibition Combination Therapy for Cystinosis.

Journal of the American Society of Nephrology, 2020
BACKGROUND Mutations in CTNS-a gene encoding the cystine transporter cystinosin-cause the rare, autosomal, recessive, lysosomal-storage disease cystinosis.
J. Hollywood, Aneta Przepiorski, R. D’Souza, Sreevalsan Sreebhavan, E. Wolvetang, P. Harrison, A. Davidson, Teresa M. Holm   +7 more
semanticscholar   +1 more source

Swallowing dysfunction in patients with nephropathic cystinosis

, 2019
Contains fulltext : 204247.pdf (Publisher’s version ) (Open Access)INTRODUCTION: Nephropathic cystinosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene.
Rijssel, A.E. van, Janssen, M.C.H., Levtchenko, E.N., Knuijt, S., Veys, K.   +4 more
core   +1 more source