Results 71 to 80 of about 6,358 (193)
Kidney Fibrosis In Vitro and In Vivo Models: Path Toward Physiologically Relevant Humanized Models
Advanced Healthcare Materials, Volume 14, Issue 9, April 4, 2025.This review discusses kidney diseases with a focus on kidney fibrosis and the models currently used. It highlights the limitations of animal and 2D in vitro models in replicating human kidney anatomy and physiology. Consequently, there is a significant need for humanized 3D in vitro models, such as 3D cell aggregates, membranes and hydrogels, on‐chip ...
Gabriele Addario +2 more
wiley +1 more source
Cells, 2021 Mice lacking the functional cystinosin gene (Ctns−/−), a model of infantile nephropathic cystinosis (INC), exhibit the cachexia phenotype with adipose tissue browning and muscle wasting.
Alex Gonzalez +5 more
semanticscholar +1 more source
Nephropathic Cystinosis : First reported case in Oman
Sultan Qaboos University Medical Journal, 2011 Cystinosis is an autosomal recessive, lysosomal storage disease characterised by the accumulation of the amino acid cystine in different organs and tissues. It is a multisystemic disease that can present with renal and extra renal manifestations.
Dana Al-Nabhani +5 more
doaj
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 +9 more
wiley +1 more source
Testicular function in males with infantile nephropathic cystinosis
Human Reproduction, 2021 STUDY QUESTION Do males with the rare lysosomal storage disease infantile nephropathic cystinosis (INC) have a chance of biological fatherhood? SUMMARY ANSWER Cryostorage of semen could be an option for approximately 20% of young males with INC, with ...
J. Rohayem +7 more
semanticscholar +1 more source
Endocrine complications during and after adolescence in a patient with cystinosis [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2016 Cystinosis is a rare disease characterized by abnormal lysosomal cystine accumulation of cystine due to impaired lysosomal transport. We previously reported the first case of cystinosis in Korea in a 12-year-old boy with short stature, general weakness ...
Moon Bae Ahn +4 more
doaj +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 +5 more
wiley +1 more source
Comptes rendus. Chimie, 2021 Medical literature indicates clearly that cystinuria and cystinosis, two severe genetic pathologies, are related to the presence of abnormal L-cystine deposits.
Dominique Bazin +15 more
semanticscholar +1 more source
Neuropsychological and neuroanatomical phenotype in 17 patients with cystinosis
Orphanet Journal of Rare Diseases, 2020 Background Cystinosis is a rare autosomal recessive disorder caused by intracellular cystine accumulation. Proximal tubulopathy (Fanconi syndrome) is one of the first signs, leading to end-stage renal disease between the age of 12 and 16.
Aurore Curie +15 more
doaj +1 more source
Ophthalmic Evaluation of Diagnosed Cases of Eye Cystinosis: A Tertiary Care Center’s Experience
Diagnostics, 2020 Background: We aimed to identify diagnosed cases of ocular cystinosis and describe clinical, epidemiological and therapeutic characteristics. Methods: This is a descriptive and retrospective case series. All patients underwent a full check-up examination
Malgorzata Kowalczyk +5 more
doaj +1 more source