Results 101 to 110 of about 9,272 (239)
Nephropathic cystinosis presenting with uveitis: Report of a “Can't See, Can't Pee” situation
Indian Journal of Pathology and Microbiology, 2019 Nephropathic cystinosis is a rare autosomal recessive lysosomal disease characterized by accumulation of pathognomonic cystine crystals in renal and other tissues of the body.
Smita Mary Matthai +4 more
doaj +1 more source
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
Dedifferentiation and aberrations of the endolysosomal compartment characterize the early stage of nephropathic cystinosis [PDF]
, 2017 Nephropathic cystinosis, a lysosomal storage disease caused by mutations in the CTNS gene encoding the lysosomal cystine transporter cystinosin, is characterized by generalized proximal tubule (PT) dysfunction that progresses, if untreated, to end-stage ...
Antignac, Corinne +5 more
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Clinical &Experimental Ophthalmology, Volume 53, Issue 3, Page 232-245, April 2025.ABSTRACT Corneal dystrophies are a group of predominantly rare inherited disorders. They are by definition bilateral, relatively symmetrical, and without systemic involvement, affecting corneal transparency and/or refraction. Traditional classification of corneal dystrophies is based on slit‐lamp appearance, affected corneal layer and histological ...
Petra Liskova +3 more
wiley +1 more source
Pressure for drug development in lysosomal storage disorders – a quantitative analysis thirty years beyond the US orphan drug act [PDF]
, 2015 Background: Lysosomal storage disorders are a heterogeneous group of approximately 50 monogenically inherited orphan conditions. A defect leads to the storage of complex molecules in the lysosome, and patients develop a complex multisystemic phenotype of
Hoffmann, Georg Friedrich +3 more
core +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
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 +7 more
semanticscholar +1 more source
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
Combined liver-kidney transplantation: Analysis of patients with preformed lymphocytotoxic antibody [PDF]
, 1988 In this report, we address combined liver-kidney transplantation, with particular attention to the apparent phenomenon of protection of kidney allografts to antibody mediated destruction by liver allografts.
Duquesnoy, R +8 more
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CRISPR-Cas9 Gene Editing of Hematopoietic Stem Cells from Patients with Friedreich's Ataxia. [PDF]
, 2020 Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disorder caused by expansion of GAA repeats in intron 1 of the frataxin (FXN) gene, leading to significant decreased expression of frataxin, a mitochondrial iron-binding protein.
Cherqui, Stephanie +7 more
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