Results 31 to 40 of about 5,039 (197)
, 2022 Understanding the unique susceptibility of the human kidney to pH dysfunction and injury in cystinosis is paramount to develop new therapies to preserve renal function.
Pineda Sanjuan, Silvia +13 more
core +1 more source
Health‐related quality of life and patient‐reported outcome measurements in patients with cystinosis
JIMD Reports, 2023 Nephropathic cystinosis is a rare autosomal recessive lysosomal storage disorder. With the availability of treatment and renal replacement therapy, nephropathic cystinosis has evolved from an early fatal disease to a chronic, progressive disorder with ...
Stefanie Witt +3 more
doaj +1 more source
Orphanet Journal of Rare Diseases, 2021 Background Cystinosis, a rare lysosomal storage disease, is characterized by cystine crystallization and accumulation within tissues and organs, including the kidneys and brain.
Ana A. Francisco +4 more
doaj +1 more source
Ophthalmology and Therapy, 2018 Cystinosis, a rare autosomal recessive disease caused by intracellular cystine accumulation, occurs in an estimated 1/100,000–200,000 live births. Ocular non-nephropathic cystinosis is typically diagnosed during adulthood, when patients present with ...
Susmito Biswas +5 more
doaj +1 more source
Iraqi Journal of Pharmaceutical Sciences, 2021 Background: Cystinosis is a rare autosomal recessive lysosomal storage disease with high morbidity and mortality. It is caused by mutations in the CTNS gene that encodes the cystine transporter, cystinosin, which leads to lysosomal cystine accumulation ...
Zainab A. Al-Kinani, Shatha H. Ali
doaj +1 more source
Nephropathic cystinosis: an update on genetic conditioning
, 2021 Cystinosis is an autosomal recessive lysosomal storage disorder caused byCTNSgene mutations. TheCTNSgene encodes the protein cystinosin, which transports free cystine from lysosomes to cytoplasm.
TOPALOĞLU, REZAN
core +1 more source
Biomarkers in Nephropathic Cystinosis: Current and Future Perspectives [PDF]
, 2022 Early diagnosis and effective therapy are essential for improving the overall prognosis and quality of life of patients with nephropathic cystinosis. The severity of kidney dysfunction and the multi-organ involvement as a consequence of the increased ...
Elena Levtchenko +29 more
core +1 more source
Extrarenal complications of cystinosis
, 2023 Cystinosis is a rare autosomal recessive disease with an incidence 1 per 100,000–200,000 live births. It is caused by pathogenic variants of the cystinosin (CTNS) gene that lead to impaired cystine transport from lysosomes to cystosol, resulting in ...
TOPALOĞLU, REZAN
core +1 more source
Repression of Virulence in Staphylococcus aureus by 2‐Aminothiol‐Mediated Quorum Quenching
Angewandte Chemie, Volume 138, Issue 37, 7 September 2026.Simple analogues of cysteine that can eliminate the native autoinducing peptides (AIPs) of staphylococci extracellularly, before they activate their receptor, and turn off quorum sensing in different Staphylococcus aureus. The elimination of AIPs occurs through a mechanism similar to native chemical ligation (NCL). Further, this strategy showed promise
Bengt H. Gless +5 more
wiley +2 more sources
Pulmonary dysfunction in children with Cystinosis: single center study, original article
Egyptian Pediatric Association Gazette, 2022 Background Cystinosis is a rare autosomal recessive disorder involving lysosomal storage of the amino acid cystine due to a defect in the membrane transport protein, cystinosin.
Dina H. Hamed +4 more
doaj +1 more source