21228764 |
Severe metabolic acidosis causes early lethality in NBC1 W516X knock-in mice as a model of human isolated proximal renal tubular acidosis
Horita, S,
Lin, SW,
Lo, YF,
Yamazaki, O,
Fujita, T,
Tsai, JD,
Lin, SH,
Yu, IS,
Usui, T,
Seki, G,
Yang, SS,
Yamada, H
|
Kidney Int. |
2011 |
15471865 |
A novel missense mutation in the sodium bicarbonate cotransporter (NBCe1/SLC4A4) causes proximal tubular acidosis and glaucoma through ion transport defects
Smith, BL,
Satoh, J,
Chang, MH,
Holtzman, EJ,
Angle, N,
Serban, I,
Knecht, A,
Dinour, D,
Romero, MF
|
J. Biol. Chem. |
2004 |
10545938 |
Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities
Tozawa, F,
Cha, SH,
Igarashi, T,
Satoh, H,
Kanai, Y,
Seki, G,
Shiobara, M,
Shimadzu, M,
Endou, H,
Kunimi, M,
Mori, T,
Tsukamoto, K,
Inatomi, J,
Sekine, T
|
Nat Genet |
1999 |
20798035 |
Defective membrane expression of the Na(+)-HCO(3)(-) cotransporter NBCe1 is associated with familial migraine
Horita, S,
Shimadzu, M,
Shiohara, M,
Fujita, T,
Van Paesschen, W,
Legius, E,
Mikoshiba, K,
De Jonghe, P,
Bergmans, BA,
Fujimoto, I,
Sekine, T,
Al-Gazali, L,
Riant, F,
Li, Y,
Seki, G,
Igarashi, T,
Suzuki, M,
Braverman, N,
Stalmans, I,
Yamada, H
|
Proc. Natl. Acad. Sci. U.S.A. |
2010 |
15930088 |
Functional analysis of NBC1 mutants associated with proximal renal tubular acidosis and ocular abnormalities
Moriyama, N,
Dasouki, M,
Horita, S,
Shimadzu, M,
Fujita, T,
Sekine, T,
Al-Gazali, L,
Endo, Y,
Ekim, M,
Inatomi, J,
Seki, G,
Igarashi, T,
Yamada, H
|
J. Am. Soc. Nephrol. |
2005 |