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Results: 1 to 20 of 204

1.

Unraveling the molecular pathogenesis of isolated proximal renal tubular acidosis.

Igarashi T, Sekine T, Inatomi J, Seki G.

J Am Soc Nephrol. 2002 Aug;13(8):2171-7. Review.

PMID:
12138151
[PubMed - indexed for MEDLINE]
Free Article
2.

Molecular basis of proximal renal tubular acidosis.

Igarashi T, Sekine T, Watanabe H.

J Nephrol. 2002 Mar-Apr;15 Suppl 5:S135-41. Review.

PMID:
12027212
[PubMed - indexed for MEDLINE]
3.

Familial pure proximal renal tubular acidosis--a clinical and genetic study.

Katzir Z, Dinour D, Reznik-Wolf H, Nissenkorn A, Holtzman E.

Nephrol Dial Transplant. 2008 Apr;23(4):1211-5. Epub 2007 Sep 19.

PMID:
17881426
[PubMed - indexed for MEDLINE]
Free Article
4.

New insights into the pathogenesis of renal tubular acidosis--from functional to molecular studies.

Rodríguez-Soriano J.

Pediatr Nephrol. 2000 Oct;14(12):1121-36. Review.

PMID:
11045400
[PubMed - indexed for MEDLINE]
5.

Mutational and functional analysis of SLC4A4 in a patient with proximal renal tubular acidosis.

Inatomi J, Horita S, Braverman N, Sekine T, Yamada H, Suzuki Y, Kawahara K, Moriyama N, Kudo A, Kawakami H, Shimadzu M, Endou H, Fujita T, Seki G, Igarashi T.

Pflugers Arch. 2004 Jul;448(4):438-44. Epub 2004 Apr 14.

PMID:
15085340
[PubMed - indexed for MEDLINE]
6.

Severe metabolic acidosis causes early lethality in NBC1 W516X knock-in mice as a model of human isolated proximal renal tubular acidosis.

Lo YF, Yang SS, Seki G, Yamada H, Horita S, Yamazaki O, Fujita T, Usui T, Tsai JD, Yu IS, Lin SW, Lin SH.

Kidney Int. 2011 Apr;79(7):730-41. doi: 10.1038/ki.2010.523. Epub 2011 Jan 12.

PMID:
21228764
[PubMed - indexed for MEDLINE]
7.

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, Angle N, Knecht A, Serban I, Holtzman EJ, Romero MF.

J Biol Chem. 2004 Dec 10;279(50):52238-46. Epub 2004 Oct 7.

PMID:
15471865
[PubMed - indexed for MEDLINE]
Free Article
8.

Proximal renal tubular acidosis and ocular pathology: a novel missense mutation in the gene (SLC4A4) for sodium bicarbonate cotransporter protein (NBCe1).

Demirci FY, Chang MH, Mah TS, Romero MF, Gorin MB.

Mol Vis. 2006 Apr 10;12:324-30.

PMID:
16636648
[PubMed - indexed for MEDLINE]
Free Article
9.

The human NBCe1-A mutant R881C, associated with proximal renal tubular acidosis, retains function but is mistargeted in polarized renal epithelia.

Toye AM, Parker MD, Daly CM, Lu J, Virkki LV, Pelletier MF, Boron WF.

Am J Physiol Cell Physiol. 2006 Oct;291(4):C788-801. Epub 2006 May 17.

PMID:
16707554
[PubMed - indexed for MEDLINE]
Free Article
10.

Novel nonsense mutation in the Na+/HCO3- cotransporter gene (SLC4A4) in a patient with permanent isolated proximal renal tubular acidosis and bilateral glaucoma.

Igarashi T, Inatomi J, Sekine T, Seki G, Shimadzu M, Tozawa F, Takeshima Y, Takumi T, Takahashi T, Yoshikawa N, Nakamura H, Endou H.

J Am Soc Nephrol. 2001 Apr;12(4):713-8.

PMID:
11274232
[PubMed - indexed for MEDLINE]
Free Article
11.

Functional analysis of NBC1 mutants associated with proximal renal tubular acidosis and ocular abnormalities.

Horita S, Yamada H, Inatomi J, Moriyama N, Sekine T, Igarashi T, Endo Y, Dasouki M, Ekim M, Al-Gazali L, Shimadzu M, Seki G, Fujita T.

J Am Soc Nephrol. 2005 Aug;16(8):2270-8. Epub 2005 Jun 1.

PMID:
15930088
[PubMed - indexed for MEDLINE]
Free Article
12.

Familial renal tubular acidosis.

Alper SL.

J Nephrol. 2010 Nov-Dec;23 Suppl 16:S57-76. Review.

PMID:
21170890
[PubMed - indexed for MEDLINE]
13.

Functional analysis of a novel missense NBC1 mutation and of other mutations causing proximal renal tubular acidosis.

Suzuki M, Vaisbich MH, Yamada H, Horita S, Li Y, Sekine T, Moriyama N, Igarashi T, Endo Y, Cardoso TP, de Sá LC, Koch VH, Seki G, Fujita T.

Pflugers Arch. 2008 Jan;455(4):583-93. Epub 2007 Jul 28.

PMID:
17661077
[PubMed - indexed for MEDLINE]
14.

Genetic and long-term data on a patient with permanent isolated proximal renal tubular acidosis.

Shiohara M, Igarashi T, Mori T, Komiyama A.

Eur J Pediatr. 2000 Dec;159(12):892-4.

PMID:
11131345
[PubMed - indexed for MEDLINE]
15.

Proximal renal tubular acidosis: a not so rare disorder of multiple etiologies.

Haque SK, Ariceta G, Batlle D.

Nephrol Dial Transplant. 2012 Dec;27(12):4273-87. doi: 10.1093/ndt/gfs493. Review.

PMID:
23235953
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Renal tubular acidosis--underrated problem?

Golembiewska E, Ciechanowski K.

Acta Biochim Pol. 2012;59(2):213-7. Epub 2012 Jun 11. Review.

PMID:
22693689
[PubMed - indexed for MEDLINE]
Free Article
17.

Proximal renal tubular acidosis.

Quigley R.

J Nephrol. 2006 Mar-Apr;19 Suppl 9:S41-5. Review.

PMID:
16736440
[PubMed - indexed for MEDLINE]
18.

Missense mutation T485S alters NBCe1-A electrogenicity causing proximal renal tubular acidosis.

Zhu Q, Shao XM, Kao L, Azimov R, Weinstein AM, Newman D, Liu W, Kurtz I.

Am J Physiol Cell Physiol. 2013 Aug 15;305(4):C392-405. doi: 10.1152/ajpcell.00044.2013. Epub 2013 May 1.

PMID:
23636456
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Inherited renal tubular acidosis.

Shayakul C, Alper SL.

Curr Opin Nephrol Hypertens. 2000 Sep;9(5):541-6. Review.

PMID:
10990375
[PubMed - indexed for MEDLINE]
20.

[Molecular mechanism in biological transport in the kidney : Na+/H+ exchanger and Na(+)-HCO3- cotransporter].

Seki G, Horita S, Yamada H.

Nihon Rinsho. 2006 Feb;64 Suppl 2:141-4. Review. Japanese. No abstract available.

PMID:
16523876
[PubMed - indexed for MEDLINE]

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