Results 61 to 70 of about 4,878 (206)
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
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Aging Cell, Volume 24, Issue 5, May 2025.Tgm2 is highly expressed in senescent microglia. The Tgm2‐NF‐κB‐SASP loop facilitates senescence in microglia. Tgm2‐catalyzed covalent crosslinking of IκBα at K22 and Q248 in the cytoplasm of senescent microglia leads to a reduction in IκBα levels and NF‐κB nuclear translocation.
Zhiqiang Li +12 more
wiley +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
Molecular based newborn screening in Germany: Follow-up for cystinosis
Molecular Genetics and Metabolism Reports, 2019 Background: Newborn screening (NBS) programs for treatable metabolic disorders have been enormously successful, but molecular-based screening has not been broadly implemented so far.
Katharina Hohenfellner +12 more
doaj +1 more source
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
Renal Transplantation in Patients with Cystinosis – A Case Series
Indian Journal of TransplantationCystinosis is a rare autosomal recessive lysosomal storage disorder causing intracellular accumulation of cystine in different organs, leading to several organ dysfunctions. Renal involvement is the most serious manifestation of cystinosis leading to end-
Yashwanth Raj Thiagarajan +3 more
doaj +1 more source
Kurdistan Journal of Applied Research, 2018 Cystinosis is a rare metabolic autosomal recessive disorder which characterized by intralysosomal accumulation of cystine. There are three forms; infantile nephropathic is the commonest forms.
Hunar Jamal Hussein +2 more
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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
Computational Drug Repositioning in Cardiorenal Disease: Opportunities, Challenges, and Approaches
PROTEOMICS, Volume 25, Issue 11-12, June 2025.
Paul Perco +7 more
wiley +1 more source
Treatment of corneal cystine crystal accumulation in patients with cystinosis
Clinical Ophthalmology, 2014 Fatemeh Shams, Iain Livingstone, Dilys Oladiwura, Kanna Ramaesh Department of Ophthalmology, Gartnavel General Hospital, Glasgow, Scotland Abstract: Cystinosis is a rare autosomal recessive disorder characterized by the accumulation of cystine within ...
Shams F +3 more
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