Kidney stones (also known as urinary stones or nephrolithiasis) are highly prevalent,
affecting approximately 10% of adults worldwide, and the incidence of stone disease is …

Amino acids are necessary for all living cells and organisms. Specialized transporters
mediate the transfer of amino acids across plasma membranes. Malfunction of these …

The primary causes of chronic kidney disease (CKD) in children differ from those of CKD in
adults. In the USA the most common diagnostic groups of renal disease that manifest before …

The transport of amino acids in kidney and intestine is critical for the supply of amino acids to
all tissues and the homeostasis of plasma amino acid levels. This is illustrated by a number …

Background The cost of genomic information has fallen steeply, but the clinical translation of
genetic risk estimates remains unclear. We aimed to undertake an integrated analysis of a …

The SLC7 family is divided into two subgroups, the cationic amino acid transporters (the
CAT family, SLC7A1–4) and the glycoprotein-associated amino acid transporters (the gpaAT …

The small intestine mediates the absorption of amino acids after ingestion of protein and
sustains the supply of amino acids to all tissues. The small intestine is an important …

Palacı́n, Manuel, Raúl Estévez, Joan Bertran, and Antonio Zorzano. Molecular Biology of
Mammalian Plasma Membrane Amino Acid Transporters. Physiol. Rev. 78: 969–1054, 1998 …

Gouty diathesis—10–20% of patients with stones have gout. 14 The stones are uric acid,
calcium oxalate or phosphate, or a mixture of the two. Invariably, the urinary acidity is low …

Nephrolithiasis is a prevalent condition with a high morbidity. Although dozens of
monogenic causes have been identified, the fraction of single-gene disease has not been …