Results 61 to 70 of about 2,800 (183)

An Isogenic Human Myoblast Cell Model for Cystinosis Myopathy Reveals Alteration of Key Myogenic Regulatory Proteins

Journal of Cachexia, Sarcopenia and Muscle, Volume 16, Issue 6, December 2025.
ABSTRACT Background Cystinosis is a rare multisystem, autosomal recessive disease caused by dysfunction or loss of cystinosin (CTNS), which results in lysosomal cystine accumulation, primarily affecting the kidneys. Advances in renal transplantation, cysteamine treatment and improved medical care have increased life expectancy, revealing additional ...
Louise Medaer, Roger Mora, Zhuoheng Zhou, Nefele Giarratana, Laura Yedigaryan, Rita La Rovere, Elena Levtchenko, Vincent Mouly, Els Verhoeyen, Sebastiaan Eeltink, Achim Treumann, Tim Vervliet, Maurilio Sampaolesi, Rik Gijsbers   +13 more
wiley   +1 more source

Cysteamine–bicalutamide combination therapy corrects proximal tubule phenotype in cystinosis

EMBO Molecular Medicine, 2021
Nephropathic cystinosis is a severe monogenic kidney disorder caused by mutations in CTNS, encoding the lysosomal transporter cystinosin, resulting in lysosomal cystine accumulation. The sole treatment, cysteamine, slows down the disease progression, but
Amer Jamalpoor, Charlotte AGH van Gelder, Fjodor A Yousef Yengej, Esther A Zaal, Sante P Berlingerio, Koenraad R Veys, Carla Pou Casellas, Koen Voskuil, Khaled Essa, Carola ME Ammerlaan, Laura Rita Rega, Reini EN van der Welle, Marc R Lilien, Maarten B Rookmaaker, Hans Clevers, Judith Klumperman, Elena Levtchenko, Celia R Berkers, Marianne C Verhaar, Maarten Altelaar, Rosalinde Masereeuw, Manoe J Janssen   +21 more
doaj   +1 more source

Chiari I Malformation in Nephropathic Cystinosis [PDF]

The Journal of Pediatrics, 2015
To determine the relative incidence of Chiari I malformations in children with cystinosis compared with those in the general population.Magnetic resonance imaging scans were performed on 53 patients with nephropathic cystinosis and 120 controls, age range 3-18 years.Ten of 53 (18.9%) patients with cystinosis had Chiari I or tonsillar ectopia, and only ...
Kavya I. Rao, John Hesselink, Doris A. Trauner   +2 more
openaire   +2 more sources

Unlocking the Mysteries of Rare Disease Drug Development: A Beginner's Guide for Clinical Pharmacologists

Clinical and Translational Science, Volume 18, Issue 4, April 2025.
ABSTRACT Clinical pharmacologists face unique challenges when developing drugs for rare diseases. These conditions are characterized by small patient populations, diverse disease progression patterns, and a limited understanding of underlying pathophysiology.
Mariam A. Ahmed, Bilal AbuAsal, Jeffrey S. Barrett, Karim Azer, Yuen Yi Hon, Salwa Albusaysi, Elizabeth Shang, Meng Wang, Maria Burian, Noha Rayad   +9 more
wiley   +1 more source

mRNA therapy: A new frontier in regenerative medicine

Interdisciplinary Medicine, Volume 3, Issue 2, March 2025.
This review discussed the potential of mRNA drugs in regenearative medicine, highlighting the key processes of mRNA therapy, focusing on therapeutic mRNA modification and delivery carriers. The preclinical and clinical studies of mRNA therapeutics for regeneration of cardiac, lung, liver, kidney, locomotor system, skin lesions and neurological ...
Ding‐Ding Xue, Yue Zhang, An‐Ran Shen, Tao‐Tao Tang, Bi‐Cheng Liu, Lin‐Li Lv   +5 more
wiley   +1 more source

Development of the Dutch translational knowledge agenda for inherited metabolic diseases

JIMD Reports, Volume 66, Issue 1, January 2025.
Abstract Background Inherited metabolic diseases (IMDs) may have considerable implications for patients and their families. Despite their individual rarity, covering a spectrum of over 1800 distinct diseases, the diseases collectively exert a significant impact, with often lifelong disabilities.
I. J. Hieltjes, J. H. van der Lee, M. C. Groenendijk, G. van Haaften, P. M. van Hasselt, R. J. Lunsing, G. J. J. van Prooijen, E. M. de Ruiter, F. J. van Spronsen, N. M. Verhoeven‐Duif, A. de Vreugd, M. Wagenmakers, H. Zweers, H. Dekker, H. R. Waterham, C. D. van Karnebeek, R. J. A. Wanders, R. A. Wevers   +17 more
wiley   +1 more source

Liver Transplant From a Deceased Donor With Cystinosis: A Case Report

JIMD Reports, Volume 66, Issue 1, January 2025.
ABSTRACT Many inherited metabolic disorders (IMD) are associated with end‐organ damage necessitating organ transplantation. Although utilization of deceased donors with history of IMD warrants caution, there may be circumstances under which such donors could be considered as suitable organ donor candidates.
Raeda Taj, Kim Ng, Sanmati R. Cuddapah, Elizabeth B. Rand, Melissa Bleicher, Sandra Amaral, Maarouf A. Hoteit, Rajendar K. Reddy, Eyob Feyssa, Emma E. Furth, Kim M. Olthoff, Samir Abu‐Gazala, Matthew H. Levine, Frederick Vyas, Peter L. Abt   +14 more
wiley   +1 more source

CTNS mutations in publicly-available human cystinosis cell lines

Molecular Genetics and Metabolism Reports, 2015
Patient samples play an important role in the study of inherited metabolic disorders. Open-access biorepositories distribute such samples. Unfortunately, not all clinically-characterized samples come with reliable genotype information.
Artem Zykovich, Renee Kinkade, Gary Royal, Todd Zankel   +3 more
doaj   +1 more source

Multimodal imaging of infantile nephropathic cystinosis

Indian Journal of Ophthalmology. Case Reports, 2021
Cystinosis is a lysosomal storage disorder characterized by cystine crystal accumulation in different parts of body including the eyes. The purpose of this article was to describe different ophthalmological abnormalities in cystinosis using multimodal ...
Krishna K Roy, P Sen, M Lakshmipathy, Raj S Paul   +3 more
doaj   +1 more source

Improving Patient Understanding of Glomerular Disease Terms With ChatGPT

International Journal of Clinical Practice, Volume 2025, Issue 1, 2025.
Background: Glomerular disease is complex and difficult for patients to understand, as it involves various pathophysiology, immunology, and pharmacology areas. Objective: This study explored whether ChatGPT can maintain accuracy while simplifying glomerular disease terms to enhance patient comprehension.
Yasir H. Abdelgadir, Charat Thongprayoon, Iasmina M. Craici, Wisit Cheungpasitporn, Jing Miao, Harry H. X. Wang   +5 more
wiley   +1 more source