Diagnostic Approach in Cystinuria: A Case Report
Trends in Pediatrics, 2021 Cystinuria is an, inherited metabolic disorder progressing with recurrent kidney stones due to impaired reabsorption of dibasic amino acids and arises from mutations in the SLC3A1 and SLC7A9 on chromosome 2.
Selda Bülbül +2 more
doaj +1 more source
Genomic Structure and Organization of the HumanrBATGene (SLC3A1)
Genomics, 1996 Cystinuria is an autosomal recessive disorder of amino acid transport, manifesting as three phenotypes (I, II, and III). An amino acid transport gene, rBAT, is responsible for cystinuria. Mutation and linkage analyses have demonstrated the disease to be heterogeneous, with rBAT being the defective gene in type I cystinuria. The genomic structure of the
J. PURROY +9 more
openaire +3 more sources
Meta-analysis of genome-wide association studies of anxiety disorders. [PDF]
, 2016 Anxiety disorders (ADs), namely generalized AD, panic disorder and phobias, are common, etiologically complex conditions with a partially genetic basis.
Adkins, D. +46 more
core +2 more sources
Cysteine promotion of breast cancer tumorigenesis is dependent of the solute carrier SLC3A1
Genes and Diseases, 2017 Yuan Cao
doaj +2 more sources
The zebrafish cationic amino acid transporter/glycoprotein-associated family: sequence and spatiotemporal distribution during development of the transport system b 0,+ (slc3a1/slc7a9) [PDF]
, 2021 System b0,+ absorbs lysine, arginine, ornithine, and cystine, as well as some (large) neutral amino acids in the mammalian kidney and intestine. It is a heteromeric amino acid transporter made of the heavy subunit SLC3A1/rBAT and the light subunit SLC7A9/
Ellingsen, Ståle +4 more
core +1 more source
PLoS ONE, 2022 Forms of embryonic nutrition are highly diverse in cartilaginous fishes, which contain oviparity, yolk-sac viviparity and several types of matrotrophic viviparity (histotrophy, oophagy, and placentotrophy). The molecular mechanisms of embryonic nutrition
Yuki Honda +6 more
doaj +3 more sources
Exploring the Contribution of the Transporter AGT1/rBAT in Cystinuria Progression : Insights from Mouse Models and a Retrospective Cohort Study [PDF]
, 2023 More than 20 years have passed since the identification of SLC3A1 and SLC7A9 as causative genes for cystinuria. However, cystinuria patients exhibit significant variability in the age of lithiasis onset, recurrence, and response to treatment, suggesting ...
Angerri, Oriol +15 more
core +3 more sources
MRF4 negatively regulates adult skeletal muscle growth by repressing MEF2 activity [PDF]
, 2016 The myogenic regulatory factor MRF4 is highly expressed in adult skeletal muscle but its function is unknown. Here we show that Mrf4 knockdown in adult muscle induces hypertrophy and prevents denervation-induced atrophy.
Abraham, Reimar +15 more
core +5 more sources
Cystinuria: an inborn cause of urolithiasis
Orphanet Journal of Rare Diseases, 2012 Cystinuria (OMIM 220100) is an inborn congenital disorder characterised by a defective cystine metabolism resulting in the formation of cystine stones.
Eggermann Thomas +2 more
doaj +1 more source
BMC Genomics, 2017 Background Cystinuria is an inherited disease that results in the formation of cystine stones in the kidney, which can have serious health complications.
Henry J. Martell +5 more
doaj +1 more source