Results 61 to 70 of about 9,272 (239)
Cystinosis — a review of disease pathogenesis, management, and future treatment options
Journal of Rare DiseasesCystinosis is a rare autosomal recessive disease characterised by an accumulation of cystine in the lysosomes. It is caused by pathogenic variants of the cystinosin gene ( CTNS ), which interrupts the transport of cystine from the lysosomes into the ...
Lauren Devitt
semanticscholar +1 more source
Cysteamine–bicalutamide combination therapy corrects proximal tubule phenotype in cystinosis
EMBO Molecular Medicine, 2021 Nephropathic cystinosis is a severe monogenic kidney disorder caused by mutations in CTNS, encoding the lysosomal transporter cystinosin, resulting in lysosomal cystine accumulation. The sole treatment, cysteamine, slows down the disease progression, but
A. Jamalpoor +21 more
semanticscholar +1 more source
Prenatal diagnosis of cystinosis [PDF]
, 1975 Cystinosis was diagnosed in a small quantity of cultured amniotic cells from a 22-week-old fetus by a modified pulse-labeling technique in which intracellular 55Sl-cystine retention was measured.
Blazer, Bonnie +3 more
core +1 more source
Hematopoietic Stem Cell Gene Therapy for Cystinosis: From Bench-to-Bedside
Cells, 2021 Cystinosis is an autosomal recessive metabolic disease that belongs to the family of lysosomal storage disorders. The gene involved is the CTNS gene that encodes cystinosin, a seven-transmembrane domain lysosomal protein, which is a proton-driven cystine
S. Cherqui
semanticscholar +1 more source
Pediatric Transplantation, Volume 29, Issue 6, September 2025.Adolescent kidney transplant candidates, not preadolescent candidates, exhibited greater executive functioning difficulties and mental health concerns during the COVID‐19 pandemic compared to adolescent candidates evaluated before the pandemic.
Finola E. Kane‐Grade +5 more
wiley +1 more source
Macrophage polarization impacts tunneling nanotube formation and intercellular organelle trafficking. [PDF]
, 2019 Tunneling nanotubes (TNTs) are cellular extensions enabling cytosol-to-cytosol intercellular interaction between numerous cell types including macrophages.
Cherqui, Stephanie +4 more
core +1 more source
Transplantation in children [PDF]
, 1976 Kidney transplantation in very young children, less than 2 years of age, has usually failed, mainly because of difficulties maintaining these patients on hemodialysis long enough to permit retransplantation after loss of the original graft.
Charles W. Putnam +15 more
core +1 more source
Journal of Cachexia, Sarcopenia and Muscle, 2021 Ctns−/− mice, a mouse model of infantile nephropathic cystinosis, exhibit hypermetabolism with adipose tissue browning and profound muscle wasting. Inflammatory cytokines such as interleukin (IL)‐1 trigger inflammatory cascades and may be an important ...
W. Cheung +7 more
semanticscholar +1 more source
Macrophages: Subtypes, Distribution, Polarization, Immunomodulatory Functions, and Therapeutics
MedComm, Volume 6, Issue 8, August 2025.Macrophages originate from the yolk sac, fetal liver, and bone marrow, differentiating into two main subtypes: M1‐like (proinflammatory) and M2‐like (anti‐inflammatory). These subtypes exhibit high plasticity, allowing them to transform in response to environmental cues or therapeutic interventions.
Mengyuan Peng +10 more
wiley +1 more source
Interaction between galectin-3 and cystinosin uncovers a pathogenic role of inflammation in kidney involvement of cystinosis. [PDF]
, 2019 Inflammation is involved in the pathogenesis of many disorders. However, the underlying mechanisms are often unknown. Here, we test whether cystinosin, the protein involved in cystinosis, is a critical regulator of galectin-3, a member of the β ...
Antignac, Corinne +16 more
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