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Acidosis, Renal Tubular

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  1. Carbonic anhydrase II deficiency in 12 families with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification. Sly, W.S., Whyte, M.P., Sundaram, V., Tashian, R.E., Hewett-Emmett, D., Guibaud, P., Vainsel, M., Baluarte, H.J., Gruskin, A., Al-Mosawi, M. N. Engl. J. Med. (1985) [Pubmed]
  2. Impaired renal conservation of sodium and chloride during sustained correction of systemic acidosis in patients with type 1, classic renal tubular acidosis. Sebastian, A., McSherry, E., Morris, R.C. J. Clin. Invest. (1976) [Pubmed]
  3. WNK1, a kinase mutated in inherited hypertension with hyperkalemia, localizes to diverse Cl- -transporting epithelia. Choate, K.A., Kahle, K.T., Wilson, F.H., Nelson-Williams, C., Lifton, R.P. Proc. Natl. Acad. Sci. U.S.A. (2003) [Pubmed]
  4. Dent Disease with mutations in OCRL1. Hoopes, R.R., Shrimpton, A.E., Knohl, S.J., Hueber, P., Hoppe, B., Matyus, J., Simckes, A., Tasic, V., Toenshoff, B., Suchy, S.F., Nussbaum, R.L., Scheinman, S.J. Am. J. Hum. Genet. (2005) [Pubmed]
  5. Autoantibodies against carbonic anhydrase II are increased in renal tubular acidosis associated with Sjogren syndrome. Takemoto, F., Hoshino, J., Sawa, N., Tamura, Y., Tagami, T., Yokota, M., Katori, H., Yokoyama, K., Ubara, Y., Hara, S., Takaichi, K., Yamada, A., Uchida, S. Am. J. Med. (2005) [Pubmed]
  6. Carbonic anhydrase II (CA II) deficiency in Maghrebian patients: evidence for founder effect and genomic recombination at the CA II locus. Fathallah, D.M., Bejaoui, M., Lepaslier, D., Chater, K., Sly, W.S., Dellagi, K. Hum. Genet. (1997) [Pubmed]
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  9. Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing. Smith, A.N., Skaug, J., Choate, K.A., Nayir, A., Bakkaloglu, A., Ozen, S., Hulton, S.A., Sanjad, S.A., Al-Sabban, E.A., Lifton, R.P., Scherer, S.W., Karet, F.E. Nat. Genet. (2000) [Pubmed]
  10. Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities. Igarashi, T., Inatomi, J., Sekine, T., Cha, S.H., Kanai, Y., Kunimi, M., Tsukamoto, K., Satoh, H., Shimadzu, M., Tozawa, F., Mori, T., Shiobara, M., Seki, G., Endou, H. Nat. Genet. (1999) [Pubmed]
  11. Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness. Karet, F.E., Finberg, K.E., Nelson, R.D., Nayir, A., Mocan, H., Sanjad, S.A., Rodriguez-Soriano, J., Santos, F., Cremers, C.W., Di Pietro, A., Hoffbrand, B.I., Winiarski, J., Bakkaloglu, A., Ozen, S., Dusunsel, R., Goodyer, P., Hulton, S.A., Wu, D.K., Skvorak, A.B., Morton, C.C., Cunningham, M.J., Jha, V., Lifton, R.P. Nat. Genet. (1999) [Pubmed]
  12. Brief report: renal tubular acidosis in carnitine palmitoyltransferase type 1 deficiency. Falik-Borenstein, Z.C., Jordan, S.C., Saudubray, J.M., Brivet, M., Demaugre, F., Edmond, J., Cederbaum, S.D. N. Engl. J. Med. (1992) [Pubmed]
  13. Validation of the difference in urine and blood carbon dioxide tension during bicarbonate loading as an index of distal nephron acidification in experimental models of distal renal tubular acidosis. DuBose, T.D., Caflisch, C.R. J. Clin. Invest. (1985) [Pubmed]
  14. Trafficking defects of a novel autosomal recessive distal renal tubular acidosis mutant (S773P) of the human kidney anion exchanger (kAE1). Kittanakom, S., Cordat, E., Akkarapatumwong, V., Yenchitsomanus, P.T., Reithmeier, R.A. J. Biol. Chem. (2004) [Pubmed]
  15. Alkali absorption and citrate excretion in calcium nephrolithiasis. Sakhaee, K., Williams, R.H., Oh, M.S., Padalino, P., Adams-Huet, B., Whitson, P., Pak, C.Y. J. Bone Miner. Res. (1993) [Pubmed]
  16. Hyperkalemic distal renal tubular acidosis and selective aldosterone deficiency. Combination in a patient with lead nephropathy. Ashouri, O.S. Arch. Intern. Med. (1985) [Pubmed]
  17. Missense mutations in Na+:HCO3- cotransporter NBC1 show abnormal trafficking in polarized kidney cells: a basis of proximal renal tubular acidosis. Li, H.C., Szigligeti, P., Worrell, R.T., Matthews, J.B., Conforti, L., Soleimani, M. Am. J. Physiol. Renal Physiol. (2005) [Pubmed]
  18. Prevalence and characterization of renal tubular acidosis in patients with osteopenia and osteoporosis and in non-porotic controls. Weger, W., Kotanko, P., Weger, M., Deutschmann, H., Skrabal, F. Nephrol. Dial. Transplant. (2000) [Pubmed]
  19. Progressive sensorineural hearing loss in association with distal renal tubular acidosis. Brown, M.T., Cunningham, M.J., Ingelfinger, J.R., Becker, A.N. Arch. Otolaryngol. Head Neck Surg. (1993) [Pubmed]
  20. Promoter activity of carbonic anhydrase II regulatory regions in cultured renal proximal tubular cells. Lai, L.W., Erickson, R.P., Venta, P.J., Tashian, R.E., Lien, Y.H. Life Sci. (1998) [Pubmed]
  21. The forkhead transcription factor Foxi1 directly activates the AE4 promoter. Kurth, I., Hentschke, M., Hentschke, S., Borgmeyer, U., Gal, A., Hübner, C.A. Biochem. J. (2006) [Pubmed]
  22. Transfusion of carbonic anhydrase-replete erythrocytes fails to correct the acidification defect in the syndrome of osteopetrosis, renal tubular acidosis, and cerebral calcification (carbonic anhydrase-II deficiency). Whyte, M.P., Hamm, L.L., Sly, W.S. J. Bone Miner. Res. (1988) [Pubmed]
  23. Calculi complicating a renal transplant. Rosenberg, J.C., Arnstein, A.R., Ing, T.S., Pierce, J.M., Rosenberg, B., Silva, Y., Walt, A.J. Am. J. Surg. (1975) [Pubmed]
  24. Carbonic anhydrase II deficiency. Whyte, M.P. Clin. Orthop. Relat. Res. (1993) [Pubmed]
  25. Possible association between cell membrane band 3 impairment function and renal tubular acidosis (liver diseases, malignancies and adverse drug reactions). Stakisaitis, D., Didziapetriene, J., Maciulaitis, R., Tschaika, M. Medicina (Kaunas, Lithuania) (2004) [Pubmed]
  26. Distal renal tubular acidosis in mice that lack the forkhead transcription factor Foxi1. Blomqvist, S.R., Vidarsson, H., Fitzgerald, S., Johansson, B.R., Ollerstam, A., Brown, R., Persson, A.E., Bergström G, G., Enerbäck, S. J. Clin. Invest. (2004) [Pubmed]
  27. 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, M.A., Cuthbert, A.W., Reimann, F., Akkarapatumwong, V., Yenchitsomanus, P.T., Bennett, W.M., Karet, F.E. J. Biol. Chem. (2004) [Pubmed]
  28. Molecular cloning and characterization of novel tissue-specific isoforms of the human vacuolar H(+)-ATPase C, G and d subunits, and their evaluation in autosomal recessive distal renal tubular acidosis. Smith, A.N., Borthwick, K.J., Karet, F.E. Gene (2002) [Pubmed]
  29. Molecular investigation and long-term clinical progress in Greek Cypriot families with recessive distal renal tubular acidosis and sensorineural deafness due to mutations in the ATP6V1B1 gene. Feldman, M., Prikis, M., Athanasiou, Y., Elia, A., Pierides, A., Deltas, C.C. Clin. Genet. (2006) [Pubmed]
  30. Evaluation of carbonic anhydrase isozymes in disorders involving osteopetrosis and/or renal tubular acidosis. Sly, W.S., Sato, S., Zhu, X.L. Clin. Biochem. (1991) [Pubmed]
  31. Persistent and transient distal renal tubular acidosis with bicarbonate wasting. Leumann, E.P., Steinmann, B. Pediatr. Res. (1975) [Pubmed]
  32. Syndrome of cleft palate, microcephaly, large ears, and short stature (Say syndrome). Abu-Libdeh, B., Fujimoto, A., Ehinger, M. Am. J. Med. Genet. (1993) [Pubmed]
  33. A study of immune responses to Tamm-Horsfall glycoprotein in the sera of patients with renal tubular acidosis. Duffy, F.A., Marshall, R.D., Wrong, O. Clin. Nephrol. (1987) [Pubmed]
  34. Citrate and mineral metabolism: kidney stones and bone disease. Caudarella, R., Vescini, F., Buffa, A., Stefoni, S. Front. Biosci. (2003) [Pubmed]
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