Associated Papers
Integration of metabolomic and genetic data reveals novel variants underpinning the human metabolome: the Coronary Artery Risk Development in Young Adults (CARDIA) study.
Krishnan M et al.
Medrxiv : the Preprint Server for Health Sciences, 2026
41646814 (PubMed )
Supplement: media-2.xlsx › TableS8
Identification of modifier gene variants overrepresented in familial hypomagnesemia with hypercalciuria and nephrocalcinosis patients with a more aggressive renal phenotype.
Vall-Palomar M et al.
Plos Genetics, 2025
40173198 (PubMed )
Supplement: pgen.1011568.s004.xlsx › Table_2
A genome-wide association analysis reveals new pathogenic pathways in gout.
Major TJ et al.
Nature Genetics, 2024
Whole exome sequencing and machine learning germline analysis of individuals presenting with extreme phenotypes of high and low risk of developing tobacco-associated lung adenocarcinoma.
Patiño-García A et al.
Ebiomedicine, 2024
38484556 (PubMed )
Supplement: mmc1.xlsx › Supp_Table_2
Linkage analysis using whole exome sequencing data implicates SLC17A1, SLC17A3, TATDN2 and TMEM131L in type 1 diabetes in Kuwaiti families.
Hebbar P et al.
Scientific Reports, 2023
Deciphering genetic signatures by whole exome sequencing in a case of co-prevalence of severe renal hypouricemia and diabetes with impaired insulin secretion.
Sekiya M et al.
Bmc Medical Genetics, 2020
Whole-exome sequencing identifies common and rare variant metabolic QTLs in a Middle Eastern population.
Yousri NA et al.
Nature Communications, 2018
NPT1/SLC17A1 is a renal urate exporter in humans and its common gain-of-function variant decreases the risk of renal underexcretion gout.
Chiba T et al.
Arthritis & Rheumatology (hoboken, N.j.), 2015
Type 1 sodium-dependent phosphate transporter acts as a membrane potential-driven urate exporter.
Miyaji T et al.
Current Molecular Pharmacology, 2013
Type 1 sodium-dependent phosphate transporter (SLC17A1 Protein) is a Cl(-)-dependent urate exporter.
Iharada M et al.
The Journal of Biological Chemistry, 2010
Recent insights into the pathogenesis of hyperuricaemia and gout.
Riches PL et al.
Human Molecular Genetics, 2009
Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study.
Dehghan A et al.
Lancet (london, England), 2008
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