ABCMdb

PMID: 25811787

Huffman JE, Albrecht E, Teumer A, Mangino M, Kapur K, Johnson T, Kutalik Z, Pirastu N, Pistis G, Lopez LM, Haller T, Salo P, Goel A, Li M, Tanaka T, Dehghan A, Ruggiero D, Malerba G, Smith AV, Nolte IM, Portas L, Phipps-Green A, Boteva L, Navarro P, Johansson A, Hicks AA, Polasek O, Esko T, Peden JF, Harris SE, Murgia F, Wild SH, Tenesa A, Tin A, Mihailov E, Grotevendt A, Gislason GK, Coresh J, D'Adamo P, Ulivi S, Vollenweider P, Waeber G, Campbell S, Kolcic I, Fisher K, Viigimaa M, Metter JE, Masciullo C,
Modulation of genetic associations with serum urate levels by body-mass-index in humans.
PLoS One. 2015 Mar 26;10(3):e0119752. doi: 10.1371/journal.pone.0119752. eCollection 2015., [PubMed]

Sentences

No. Mutations Sentence Comment

252 ABCG2 p.Gln141Lys The ATP-binding cassette transporter ABCG2 has been established as a high capacity urate transporter, is expressed in renal proximal tubules, liver and intestines, and the hyperuricemia causal Q141K mutation has been shown to reduce urate transport rates [39]. Login to comment 254 ABCG2 p.Gln141Lys Interestingly, BMI-dependent effects of Q141K on urate response to acute fructose exposure have been recently reported [41]. Login to comment