메뉴 건너뛰기




Volumn 88, Issue 4, 2012, Pages 350-355

dRTA and hemolytic anemia: First detailed description of SLC4A1 A858D mutation in homozygous state

Author keywords

Acanthocytosis; Band 3; DRTA; EAE1; Hereditary; KAE1; Oman

Indexed keywords

ANTIPORTER; EOSIN 5' MALEIMIDE; MALEIMIDE DERIVATIVE; SOLUTE CARRIER FAMILY 4 ANION EXCHANGER MEMBER 1 PROTEIN; UNCLASSIFIED DRUG;

EID: 84858292840     PISSN: 09024441     EISSN: 16000609     Source Type: Journal    
DOI: 10.1111/j.1600-0609.2011.01739.x     Document Type: Article
Times cited : (23)

References (17)
  • 1
    • 0028065446 scopus 로고
    • The structure of the human red blood cell anion exchanger (EPB3, AE1, band 3) gene
    • Schofield AE, Martin PG, Spillett D, Tanner MJ. The structure of the human red blood cell anion exchanger (EPB3, AE1, band 3) gene. Blood 1994;84:2000-12.
    • (1994) Blood , vol.84 , pp. 2000-2012
    • Schofield, A.E.1    Martin, P.G.2    Spillett, D.3    Tanner, M.J.4
  • 2
    • 0023637333 scopus 로고
    • Immunochemical characterization of a band 3-like anion exchanger in collecting duct of human kidney
    • Wagner S, Vogel R, Lietzke R, et al. Immunochemical characterization of a band 3-like anion exchanger in collecting duct of human kidney. Am J Physiol 1987;253:F213-21.
    • (1987) Am J Physiol , vol.253
    • Wagner, S.1    Vogel, R.2    Lietzke, R.3
  • 3
    • 1042286852 scopus 로고
    • Subtypes of intercalated cells in rat kidney collecting duct defined by antibodies against erythroid band 3 and renal vacuolar H-ATPase
    • Alper SL, Natale J, Gluck S, et al. Subtypes of intercalated cells in rat kidney collecting duct defined by antibodies against erythroid band 3 and renal vacuolar H-ATPase. Proc Natl Acad Sci U S A 1989;86:5429-33.
    • (1989) Proc Natl Acad Sci U S A , vol.86 , pp. 5429-5433
    • Alper, S.L.1    Natale, J.2    Gluck, S.3
  • 4
    • 41949103722 scopus 로고    scopus 로고
    • Hematological abnormalities in patients with distal renal tubular acidosis and hemoglobinopathies
    • Khositseth S, Sirkanaerat A, Khoprasert S, et al. Hematological abnormalities in patients with distal renal tubular acidosis and hemoglobinopathies. Am J Hematol 2008;83:465-71.
    • (2008) Am J Hematol , vol.83 , pp. 465-471
    • Khositseth, S.1    Sirkanaerat, A.2    Khoprasert, S.3
  • 5
    • 33749998791 scopus 로고    scopus 로고
    • Molecular mechanisms of autosomal dominant and recessive distal renal tubular acidosis caused by SLC4A1 (AE1) mutation
    • Yenchitsomanus PT, Kittanakom S, Rungroj N, Cordat E, Reithmeier RAF. Molecular mechanisms of autosomal dominant and recessive distal renal tubular acidosis caused by SLC4A1 (AE1) mutation. Am J Hematol 2005;1:49-62.
    • (2005) Am J Hematol , vol.1 , pp. 49-62
    • Yenchitsomanus, P.T.1    Kittanakom, S.2    Rungroj, N.3    Cordat, E.4    Reithmeier, R.A.F.5
  • 6
    • 0348230738 scopus 로고    scopus 로고
    • Human anion exchanger1 mutations and distal renal tubular acidosis
    • Yenchitsomanus PT. Human anion exchanger1 mutations and distal renal tubular acidosis. Southeast Asian J Trop Med Public Health 2003;34:651-8.
    • (2003) Southeast Asian J Trop Med Public Health , vol.34 , pp. 651-658
    • Yenchitsomanus, P.T.1
  • 7
    • 50849126820 scopus 로고    scopus 로고
    • Clinical and hematologic features of 300 patients affected by hereditary spherocytosis grouped according to the type of the membrane protein defect
    • Mariani M, Barcellin W, Vercellati C, Marcello AP, Fermo E, Pedotti P, Boschetti C, Zanella A. Clinical and hematologic features of 300 patients affected by hereditary spherocytosis grouped according to the type of the membrane protein defect. Haematologica 2008;93:1310-7.
    • (2008) Haematologica , vol.93 , pp. 1310-1317
    • Mariani, M.1    Barcellin, W.2    Vercellati, C.3    Marcello, A.P.4    Fermo, E.5    Pedotti, P.6    Boschetti, C.7    Zanella, A.8
  • 8
    • 0035123512 scopus 로고    scopus 로고
    • Hereditary distal renal tubular acidosis: new understandings
    • Batlle D, Ghanekar H, Jain S, Mitra A. Hereditary distal renal tubular acidosis: new understandings. Annu Rev Med 2001;52:471-84.
    • (2001) Annu Rev Med , vol.52 , pp. 471-484
    • Batlle, D.1    Ghanekar, H.2    Jain, S.3    Mitra, A.4
  • 11
    • 0034106974 scopus 로고    scopus 로고
    • A study of consanguinity in the sultanate of Oman
    • Rajab A, Patton MA. A study of consanguinity in the sultanate of Oman. Ann Hum Biol 2000;27:321-6.
    • (2000) Ann Hum Biol , vol.27 , pp. 321-326
    • Rajab, A.1    Patton, M.A.2
  • 12
    • 30944467117 scopus 로고    scopus 로고
    • Recessive distal renal tubular acidosis in Sarawak caused by AE1 mutation
    • Choo KE, Nicoli TK, Bruce LJ, et al. Recessive distal renal tubular acidosis in Sarawak caused by AE1 mutation. Pediatr Nephrol 2006;21:212-7.
    • (2006) Pediatr Nephrol , vol.21 , pp. 212-217
    • Choo, K.E.1    Nicoli, T.K.2    Bruce, L.J.3
  • 13
    • 0034663483 scopus 로고    scopus 로고
    • Band 3 mutations, renal tubular acidosis and South- East Asian ovalocytosis in Malaysia and Pupa New Guinea: loss of up to 95% band 3 transport in red cells
    • Bruce LJ, Wrong O, Toye AM, et al. Band 3 mutations, renal tubular acidosis and South- East Asian ovalocytosis in Malaysia and Pupa New Guinea: loss of up to 95% band 3 transport in red cells. Biochem J 2000;15:41-51.
    • (2000) Biochem J , vol.15 , pp. 41-51
    • Bruce, L.J.1    Wrong, O.2    Toye, A.M.3
  • 15
    • 70350550328 scopus 로고    scopus 로고
    • Development of mesial temporal lobe epilepsy in chorea-acanthocytosis
    • Scheid R, Bader B, Ott DV, Merkenschlager A, Danek A. Development of mesial temporal lobe epilepsy in chorea-acanthocytosis. Neurology 2009;73:1419-22.
    • (2009) Neurology , vol.73 , pp. 1419-1422
    • Scheid, R.1    Bader, B.2    Ott, D.V.3    Merkenschlager, A.4    Danek, A.5
  • 16
    • 23944446139 scopus 로고    scopus 로고
    • Familial temporal lobe epilepsy as a presenting feature of choreoacanthocytosis
    • Al-Asmi A, Jansen AC, Badhwar A, et al. Familial temporal lobe epilepsy as a presenting feature of choreoacanthocytosis. Epilepsia 2005;46:1256-63.
    • (2005) Epilepsia , vol.46 , pp. 1256-1263
    • Al-Asmi, A.1    Jansen, A.C.2    Badhwar, A.3
  • 17
    • 41449091581 scopus 로고    scopus 로고
    • Audiometric and imaging characteristics of distal renal tubular acidosis and deafness
    • Joshua B, Kaplan DM, Raveh E, Lotan D, Anikster Y. Audiometric and imaging characteristics of distal renal tubular acidosis and deafness. J Laryngol 2008;122:193-8.
    • (2008) J Laryngol , vol.122 , pp. 193-198
    • Joshua, B.1    Kaplan, D.M.2    Raveh, E.3    Lotan, D.4    Anikster, Y.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.