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Summary Literature (4)
Literature for DOID 14219: renal tubular acidosis


Xenbase Articles :
( Denotes literature images)
A novel missense mutation in the sodium bicarbonate cotransporter (NBCe1/SLC4A4) causes proximal tubular acidosis and glaucoma through ion transport defects., Dinour D,Chang MH,Satoh J,Smith BL,Smith BL,Angle N,Knecht A,Serban I,Holtzman EJ,Romero MF, J Biol Chem. December 10, 2004; 279(50):1083-351X.
A novel missense mutation in AE1 causing autosomal dominant distal renal tubular acidosis retains normal transport function but is mistargeted in polarized epithelial cells., Rungroj N,Devonald MA,Cuthbert AW,Reimann F,Akkarapatumwong V,Yenchitsomanus PT,Bennett WM,Karet FE, J Biol Chem. April 2, 2004; 279(14):1083-351X.
A novel mutant Na + /HCO3 - cotransporter NBCe1 in a case of compound-heterozygous inheritance of proximal renal tubular acidosis., Myers EJ,Yuan L,Felmlee MA,Lin YY,Jiang Y,Pei Y,Wang O,Li M,Xing XP,Marshall A,Xia WB,Parker MD, J Physiol. November 1, 2016; 594(21):0022-3751.
A novel I551F variant of the Na+/HCO3- cotransporter NBCe1-A shows reduced cell surface expression, resulting in diminished transport activity., Yamazaki O,Yamashita M,Li J,Ochiai-Homma F,Yoshida T,Hirahashi J,Furukawa T,Kozuma K,Fujigaki Y,Seki G,Hayashi M,Shibata S, Am J Physiol Renal Physiol. December 1, 2021; 321(6):1522-1466.