Results 91 to 100 of about 7,801 (251)
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 +3 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
Negative modulation of the GABAAρ1 receptor function by l-cysteine [PDF]
, 2017 l-Cysteine is an endogenous sulfur-containing amino acid with multiple and varied roles in the central nervous system, including neuroprotection and the maintenance of the redox balance.
Beltrán González, Andrea Natalia +2 more
core +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
Clinical predictors of neurocognitive deficits in children with chronic kidney disease [PDF]
, 2007 The purpose of the study was to explore associations between neurocognitive function and chronic kidney disease (CKD)-related clinical characteristics. Twenty-nine children, ages 7 to 19years, with an estimated creatinine clearance (eCrCl) of 4–89ml/min ...
Slickers, Jennifer +3 more
core +2 more sources
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
Genome-Wide Association Scan for Diabetic Nephropathy Susceptibility Genes in Type 1 Diabetes [PDF]
, 2011 OBJECTIVE—Despite extensive evidence for genetic susceptibility to diabetic nephropathy, the identification of susceptibility genes and their variants has had limited success.
Barati, Michelle T. +28 more
core +1 more source
Rocaglates as dual-targeting agents for experimental cerebral malaria [PDF]
, 2018 Cerebral malaria (CM) is a severe and rapidly progressing complication of infection by Plasmodium parasites that is associated with high rates of mortality and morbidity.
Ayi, Kodjo +12 more
core +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