Results 41 to 50 of about 459 (116)
American Journal of Biological Anthropology, Volume 180, Issue 2, Page 252-271, February 2023., 2023 Early humans were subjected to two opposing UVR/pigmentation clines; the first (folate driven) involved melanization as one moves closer to the equator (ancestral phenotype). The second (vitamin D driven) involved depigmentation following early human expansion out of Africa and changing cultural practices (agricultural development).
Mark D. Lucock
wiley +1 more source
Apolipoprotein M modulates erythrocyte efflux and tubular reabsorption of sphingosine-1-phosphate
Journal of Lipid Research, 2014 Sphingosine-1-phosphate (S1P) mediates several cytoprotective functions of HDL. apoM acts as a S1P binding protein in HDL. Erythrocytes are the major source of S1P in plasma. After glomerular filtration, apoM is endocytosed in the proximal renal tubules.
Iryna Sutter +7 more
doaj +1 more source
Cystinosis and two rare mutations in CTNS gene: two case reports
Journal of Medical Case Reports, 2022 Background Cystinosis is an autosomal recessive disorder characterized by an accumulation of the amino acid cystine in lysosomes throughout the body. Cystinosis is an inherited disease resulting from the failure of lysosomal cystine transport.
Sepideh Gholami Yarahmadi +2 more
doaj +1 more source
Genotypic and phenotypic features of the cystinosis patients from the South Eastern part of Turkey
The Turkish Journal of Pediatrics, 2016 We have conducted this study for the purposes of demonstrating the spectrum of mutations and of identifying their effects on the phenotype, with a particular focus on the clinical course, prognosis and response to treatment. A total of 25 patients
Neslihan Önenli-Mungan +10 more
doaj +1 more source
Molecular analysis of the CTNS gene in Jordanian families with nephropathic cystinosis
Nefrología (English Edition), 2015 Objective: Nephropathic cystinosis is an autosomal recessive lysosomal storage disorder that is characterised by the accumulation of the amino acid cystine in several body tissues due to a mutation in the CTNS gene, which encodes the cystinosin protein ...
Saied Jaradat +5 more
doaj +3 more sources
Nature Communications, 2023 Differentiation is critical for cell fate decisions, but the signals involved remain unclear. The kidney proximal tubule (PT) cells reabsorb disulphide-rich proteins through endocytosis, generating cystine via lysosomal proteolysis.
Marine Berquez +11 more
doaj +1 more source
Identification and subcellular localization of a new cystinosin isoform
American Journal of Physiology-Renal Physiology, 2008 Nephropathic cystinosis is a lysosomal disorder caused by functional defects of cystinosin, which mediates cystine efflux into the cytosol. The protein sequence contains at least two signals that target the protein to the lysosomal compartment, one of which is located at the carboxy terminal tail (GYDQL).
Taranta, A. +11 more
openaire +4 more sources
BMC Research Notes, 2023 Objective The study of the impact of some inherited defects in glycosylation on the biosynthesis of some lysosomal glycoproteins. Results description: Whole-exome sequencing revealed a homozygous variant; 428G > A; p. (R143K) in SRD5A3 in one patient and
Sahar Sabry +2 more
doaj +1 more source
BMC Genomics, 2000 Background Cystinosis is an autosomal recessive disorder characterised by an intralysosomal accumulation of cystine, and affected individuals progress to end-stage renal failure before the age of ten.
Poras Isabelle +4 more
doaj +1 more source