Results 61 to 70 of about 1,485 (158)
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
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Micro‐ and nanomotors in biomedical applications
Responsive Materials, Volume 3, Issue 3, August 2025.Micro‐ and nanomotors (MNMs), as autonomous devices converting chemical or external energy into mechanical propulsion, have emerged as transformative drug delivery platforms in biomedicine. This review systematically outlines the design principles governing MNMs' propulsion and operation, highlights the applications of MNMs in disease treatment, and ...
Xiangyu Meng, Yuqi Tang, Quan Li
wiley +1 more source
Harnessing the Potential of mRNA Vaccines Against Infectious Diseases
Microbial Biotechnology, Volume 18, Issue 8, August 2025.RNA vaccines are promising because of their flexible design, strong immunogenicity, safety and rapid development. Recent advances have enabled mRNA vaccines to target various pathogens, including viruses such as influenza and HIV, bacteria such as Mycobacteria and Pseudomonas aeruginosa, and parasites such as those causing malaria.
Nouran Rezk, Siobhán McClean
wiley +1 more source
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
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Biology Open, 2016 Cystine and cysteine are important molecules for pathways such as redox signaling and regulation, and thus identifying cellular deficits upon deletion of the Saccharomyces cerevisiae cystine transporter Ers1p allows for a further understanding of cystine
Jessica A. Simpkins +10 more
doaj +1 more source
Diabetes, Obesity and Metabolism, Volume 27, Issue S8, Page 3-6, September 2025.
Kevin Yau +2 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 +3 more
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Phenotypic variability in cystinosis: Lessons from an atypical case
Nefrología (English Edition)Cystinosis is a rare monogenic autosomal recessive disorder caused by pathogenic variants in the CTNS gene, encoding cystinosin. Loss-of-function of cystinosin leads to intralysosomal cystine accumulation, resulting in cellular dysfunction and ...
Diego Toso +5 more
doaj +1 more source
Antioxidants, 2018 Cystinosin is a lysosomal transmembrane protein which facilitates transport of the disulphide amino acid cystine (CySS) from the lysosomes of the cell.
Rodolfo Sumayao +2 more
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Response inhibition and error-monitoring in cystinosis (CTNS gene mutations): Behavioral and electrophysiological evidence of a diverse set of difficulties [PDF]
, 2023 Ana A. Francisco +4 more
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