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Volumn 34, Issue 3, 2003, Pages 651-658

Human anion exchanger1 mutations and distal renal tubular acidosis

Author keywords

[No Author keywords available]

Indexed keywords

ERYTHROCYTE BAND 3 PROTEIN;

EID: 0348230738     PISSN: 01251562     EISSN: 26975718     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (18)

References (41)
  • 1
    • 0033024133 scopus 로고    scopus 로고
    • Prevention of cerebral malaria in children in Papua New Guinea by Southeast Asian ovalocytosis band 3
    • Allen SJ, O'Donnell A, Alexander ND, et al. Prevention of cerebral malaria in children in Papua New Guinea by Southeast Asian ovalocytosis band 3. Am J Trop Med Hyg 1999; 60: 1056-60.
    • (1999) Am J Trop Med Hyg , vol.60 , pp. 1056-1060
    • Allen, S.J.1    O'Donnell, A.2    Alexander, N.D.3
  • 2
    • 0036197399 scopus 로고    scopus 로고
    • Genetic diseases of acid-base transporters
    • Alper SL. Genetic diseases of acid-base transporters. Annu Rev Physiol 2002; 64: 899-923.
    • (2002) Annu Rev Physiol , vol.64 , pp. 899-923
    • Alper, S.L.1
  • 4
    • 0014277448 scopus 로고
    • Hereditary elliptocytosis and primary renal tubular acidosis in a single family
    • Baehner RL, Cilchrist GS, Anderson EJ. Hereditary elliptocytosis and primary renal tubular acidosis in a single family. Am J Dis Child 1968; 115: 414-9.
    • (1968) Am J Dis Child , vol.115 , pp. 414-419
    • Baehner, R.L.1    Cilchrist, G.S.2    Anderson, E.J.3
  • 5
    • 0029949982 scopus 로고    scopus 로고
    • Underlying defects in distal renal tubular acidosis: New understandings
    • Batlle D, Flores G. Underlying defects in distal renal tubular acidosis: new understandings. Am J Kidney Dis 1996; 27: 896-915.
    • (1996) Am J Kidney Dis , vol.27 , pp. 896-915
    • Batlle, D.1    Flores, G.2
  • 6
    • 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
  • 7
    • 0027327067 scopus 로고
    • The pattern of spontaneous germ-line mutation: Relative rates of mutation at or near CpG dinucleotides in the factor IX gene
    • Bottema CD, Ketterling RP, Vielhaber E, et al. The pattern of spontaneous germ-line mutation: relative rates of mutation at or near CpG dinucleotides in the factor IX gene. Hum Genet 1993; 91: 496-503.
    • (1993) Hum Genet , vol.91 , pp. 496-503
    • Bottema, C.D.1    Ketterling, R.P.2    Vielhaber, E.3
  • 8
    • 0030923557 scopus 로고    scopus 로고
    • Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene
    • Bruce LJ, Cope DL, Jones GK, et al. Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene. J Clin Invest 1997; 100: 1693-707.
    • (1997) J Clin Invest , vol.100 , pp. 1693-1707
    • Bruce, L.J.1    Cope, D.L.2    Jones, G.K.3
  • 9
    • 85060355599 scopus 로고    scopus 로고
    • Structure-function relationships of band 3 variants
    • Bruce LJ, Tanner MJ. Structure-function relationships of band 3 variants. Cell Mol Biol 1996; 42: 975-84.
    • (1996) Cell Mol Biol , vol.42 , pp. 975-984
    • Bruce, L.J.1    Tanner, M.J.2
  • 10
    • 0034663483 scopus 로고    scopus 로고
    • Band 3 mutations, renal tubular acidosis and South-East Asian ovalocytosis in Malaysia and Papua New Guinea: Loss of up to 95% band 3 transport in red cells
    • Bruce LJ, Wrong O, Toye AM, Young MT, et al. Band 3 mutations, renal tubular acidosis and South-East Asian ovalocytosis in Malaysia and Papua New Guinea: loss of up to 95% band 3 transport in red cells. Biochem J 2000; 350: 41-51.
    • (2000) Biochem J , vol.350 , pp. 41-51
    • Bruce, L.J.1    Wrong, O.2    Toye, A.M.3    Young, M.T.4
  • 11
    • 0019198357 scopus 로고
    • Mutagenic deamination of cytosine residues in DNA
    • Duncan BK, Miller JH. Mutagenic deamination of cytosine residues in DNA. Nature 1980; 287: 560-1.
    • (1980) Nature , vol.287 , pp. 560-561
    • Duncan, B.K.1    Miller, J.H.2
  • 12
    • 0026354679 scopus 로고
    • Deletion in erythrocyte band 3 gene in malaria-resistant Southeast Asian ovalocytosis
    • Jarolim P, Palek J, Amato D, et al. Deletion in erythrocyte band 3 gene in malaria-resistant Southeast Asian ovalocytosis. Proc Natl Acad Sci USA 1991; 88: 11022-6.
    • (1991) Proc Natl Acad Sci USA , vol.88 , pp. 11022-11026
    • Jarolim, P.1    Palek, J.2    Amato, D.3
  • 13
    • 0032513292 scopus 로고    scopus 로고
    • Autosomal dominant distal renal tubular acidosis is associated in three families with heterozygosity for the R589H mutation in the AE1 (band 3) Cl-/HCO3-exchanger
    • Jarolim P, Shayakul C, Prabakaran D, et al. Autosomal dominant distal renal tubular acidosis is associated in three families with heterozygosity for the R589H mutation in the AE1 (band 3) Cl-/HCO3-exchanger. J Biol Chem 1998; 273: 6380-8.
    • (1998) J Biol Chem , vol.273 , pp. 6380-6388
    • Jarolim, P.1    Shayakul, C.2    Prabakaran, D.3
  • 14
    • 0032943534 scopus 로고    scopus 로고
    • +-ATPase cause renal tubular acidosis with sensorineural deafness
    • +-ATPase cause renal tubular acidosis with sensorineural deafness. Nat Genet 1999; 21: 84-90.
    • (1999) Nat Genet , vol.21 , pp. 84-90
    • Karet, F.E.1    Finberg, K.E.2    Nelson, R.D.3
  • 15
    • 13144262840 scopus 로고    scopus 로고
    • Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis
    • Karet FE, Gainza FJ, Gyory AZ, et al. Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis. Proc Natl Acad Sci USA 1998; 95: 6337-42.
    • (1998) Proc Natl Acad Sci USA , vol.95 , pp. 6337-6342
    • Karet, F.E.1    Gainza, F.J.2    Gyory, A.Z.3
  • 16
    • 0029029602 scopus 로고
    • Molecular basis of altered red blood cell membrane properties in Southeast Asian ovalocytosis: Role of the mutant band 3 protein in band 3 oligomerization and retention by the membrane skeleton
    • Liu SC, Palek J, Yi SJ, Nichols PE, et al. Molecular basis of altered red blood cell membrane properties in Southeast Asian ovalocytosis: role of the mutant band 3 protein in band 3 oligomerization and retention by the membrane skeleton. Blood 1995; 86: 349-58.
    • (1995) Blood , vol.86 , pp. 349-358
    • Liu, S.C.1    Palek, J.2    Yi, S.J.3    Nichols, P.E.4
  • 17
    • 0029896092 scopus 로고    scopus 로고
    • Occurrence of the erythrocyte band 3 (AE1) gene deletion in relation to malaria endemicity in Papua New Guinea
    • Mgone CS, Koki G, Paniu MM, et al. Occurrence of the erythrocyte band 3 (AE1) gene deletion in relation to malaria endemicity in Papua New Guinea. Trans R Soc Trop Med Hyg 1996; 90: 228-31.
    • (1996) Trans R Soc Trop Med Hyg , vol.90 , pp. 228-231
    • Mgone, C.S.1    Koki, G.2    Paniu, M.M.3
  • 19
    • 0024948587 scopus 로고
    • CpG dinucleotides are "hotspots" for mutation in the antithrombin IE gene. Twelve variants identified using the polymerase chain reaction
    • Perry DJ, Carrell RW. CpG dinucleotides are "hotspots" for mutation in the antithrombin IE gene. Twelve variants identified using the polymerase chain reaction. Mol Biol Med 1989; 6: 239-43.
    • (1989) Mol Biol Med , vol.6 , pp. 239-243
    • Perry, D.J.1    Carrell, R.W.2
  • 20
    • 0034732883 scopus 로고    scopus 로고
    • P53 mutational spectra and the role of methylated CpG sequences
    • Pfeifer GP. P53 mutational spectra and the role of methylated CpG sequences. Mutat Res 2000; 450: 155-66.
    • (2000) Mutat Res , vol.450 , pp. 155-166
    • Pfeifer, G.P.1
  • 21
    • 0036086387 scopus 로고    scopus 로고
    • Impaired trafficking of distal renal tubular acidosis mutants of the human kidney anion exchanger kAE1
    • Quilty JA, Li J, Reithmeier RA. Impaired trafficking of distal renal tubular acidosis mutants of the human kidney anion exchanger kAE1. Am J Physiol Renal Physiol 2002a; 282: F810-F820.
    • (2002) Am J Physiol Renal Physiol , vol.282
    • Quilty, J.A.1    Li, J.2    Reithmeier, R.A.3
  • 22
    • 0037115749 scopus 로고    scopus 로고
    • Impaired trafficking of human kidney anion exchanger (kAE1) caused by hetero-oligomer formation with a truncated mutant associated with distal renal tubular acidosis
    • Quilty JA, Cordat E, Reithmeier RA. Impaired trafficking of human kidney anion exchanger (kAE1) caused by hetero-oligomer formation with a truncated mutant associated with distal renal tubular acidosis. Biochem J 2002b; 368: 895-903.
    • (2002) Biochem J , vol.368 , pp. 895-903
    • Quilty, J.A.1    Cordat, E.2    Reithmeier, R.A.3
  • 23
    • 0034663120 scopus 로고    scopus 로고
    • Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3
    • Ribeiro ML, Alloisio N, Almeida H, et al. Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3. Blood 2000; 96: 1602-4.
    • (2000) Blood , vol.96 , pp. 1602-1604
    • Ribeiro, M.L.1    Alloisio, N.2    Almeida, H.3
  • 24
    • 0033813663 scopus 로고    scopus 로고
    • New insights into the pathogenesis of renal tubular acidosis - From functional to molecular studies
    • Rodriguez-Soriano J. New insights into the pathogenesis of renal tubular acidosis - from functional to molecular studies. Pediatr Nephrol 2000; 14: 1121-36.
    • (2000) Pediatr Nephrol , vol.14 , pp. 1121-1136
    • Rodriguez-Soriano, J.1
  • 25
    • 0028585820 scopus 로고
    • The structure and organization of the human erythroid anion exchanger (AE1) gene
    • Sahr KE, Taylor WM, Daniels BP, Rubin HL, Jarolim P. The structure and organization of the human erythroid anion exchanger (AE1) gene. Genomics 1994; 24: 491-501.
    • (1994) Genomics , vol.24 , pp. 491-501
    • Sahr, K.E.1    Taylor, W.M.2    Daniels, B.P.3    Rubin, H.L.4    Jarolim, P.5
  • 26
    • 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
  • 27
    • 0033812944 scopus 로고    scopus 로고
    • Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing
    • Smith AN, Skaug J, Choate KA, et al. Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing. Nat Genet 2000; 26: 71-5.
    • (2000) Nat Genet , vol.26 , pp. 71-75
    • Smith, A.N.1    Skaug, J.2    Choate, K.A.3
  • 28
    • 0038015690 scopus 로고    scopus 로고
    • A de novo R589C mutation of anion exchanger 1 causing distal renal tubular acidosis in a Thai pediatric patient
    • Sritippayawan S, Kirdpon S, Vasuvattakul S, et al. A de novo R589C mutation of anion exchanger 1 causing distal renal tubular acidosis in a Thai pediatric patient. Pediatr Nephrol 2002; 18: 644-8.
    • (2002) Pediatr Nephrol , vol.18 , pp. 644-648
    • Sritippayawan, S.1    Kirdpon, S.2    Vasuvattakul, S.3
  • 29
    • 18744379726 scopus 로고    scopus 로고
    • Novel ATP6V1B1 and ATP6VOA4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss
    • Stover EH, Borthwick KJ, Bavalia C, et al. Novel ATP6V1B1 and ATP6VOA4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss. J Med Genet 2002; 39: 796-803.
    • (2002) J Med Genet , vol.39 , pp. 796-803
    • Stover, E.H.1    Borthwick, K.J.2    Bavalia, C.3
  • 30
    • 0027410647 scopus 로고
    • Molecular and cellular biology of the erythrocyte anion exchanger (AE1)
    • Tanner MJA. Molecular and cellular biology of the erythrocyte anion exchanger (AE1). Sem Hematol 1993; 30: 34-57.
    • (1993) Sem Hematol , vol.30 , pp. 34-57
    • Tanner, M.J.A.1
  • 31
    • 0031466796 scopus 로고    scopus 로고
    • The structure and function of band 3 (AE1): Recent developments
    • Tanner MJ. The structure and function of band 3 (AE1): recent developments. Mol Membr Biol 1997; 14: 155-65.
    • (1997) Mol Membr Biol , vol.14 , pp. 155-165
    • Tanner, M.J.1
  • 32
    • 0032535372 scopus 로고    scopus 로고
    • Novel AE1 mutations in recessive distal renal tubular acidosis: Loss-of- function is rescued by glycophorin A
    • Tanphaichitr VS, Sumboonnanonda A, Ideguchi H, et al. Novel AE1 mutations in recessive distal renal tubular acidosis: loss-of-function is rescued by glycophorin A. J Clin Invest 1998; 102: 2173-9.
    • (1998) J Clin Invest , vol.102 , pp. 2173-2179
    • Tanphaichitr, V.S.1    Sumboonnanonda, A.2    Ideguchi, H.3
  • 34
    • 0036090376 scopus 로고    scopus 로고
    • Band 3 Walton, a C-terminal deletion associated with distal renal tubular acidosis, is expressed in the red cell membrane but retained internally in kidney cells
    • Toye AM, Bruce LJ, Unwin RJ, Wrong O, Tanner MJ. Band 3 Walton, a C-terminal deletion associated with distal renal tubular acidosis, is expressed in the red cell membrane but retained internally in kidney cells. Blood 2002; 99: 342-7.
    • (2002) Blood , vol.99 , pp. 342-347
    • Toye, A.M.1    Bruce, L.J.2    Unwin, R.J.3    Wrong, O.4    Tanner, M.J.5
  • 35
    • 0032907043 scopus 로고    scopus 로고
    • Red blood cell membrane disorders
    • Tse WT, Lux SE. Red blood cell membrane disorders. Br J Haematol 1999; 104: 2-13.
    • (1999) Br J Haematol , vol.104 , pp. 2-13
    • Tse, W.T.1    Lux, S.E.2
  • 36
    • 0032704679 scopus 로고    scopus 로고
    • Autosomal recessive distal renal tubular acidosis associated with Southeast Asian ovalocytosis
    • Vasuvattakul S, Yenchitsomanus P, Vachuanichsanong P, et al. Autosomal recessive distal renal tubular acidosis associated with Southeast Asian ovalocytosis. Kidney Int 1999; 56: 1674-82.
    • (1999) Kidney Int , vol.56 , pp. 1674-1682
    • Vasuvattakul, S.1    Yenchitsomanus, P.2    Vachuanichsanong, P.3
  • 37
    • 0033638694 scopus 로고    scopus 로고
    • Atypical distal renal tubular acidosis confirmed by mutation analysis
    • Weber S, Soergel M, Jeck N, Konrad M. Atypical distal renal tubular acidosis confirmed by mutation analysis. Pediatr Nephrol 2000; 15: 201-4
    • (2000) Pediatr Nephrol , vol.15 , pp. 201-204
    • Weber, S.1    Soergel, M.2    Jeck, N.3    Konrad, M.4
  • 38
    • 0142032855 scopus 로고    scopus 로고
    • Renal tubular acidosis, anion exchanger 1 (AE1) mutations, Southeast Asian ovalocytosis: A malaria connection?
    • Wilairat P. Renal tubular acidosis, anion exchanger 1 (AE1) mutations, Southeast Asian ovalocytosis: a malaria connection? FAOPS Newsl 2000; 9: 3-6, 8.
    • (2000) FAOPS Newsl , vol.9 , pp. 3-6
    • Wilairat, P.1
  • 39
    • 0036318471 scopus 로고    scopus 로고
    • Band 3 mutations, distal renal tubular acidosis, and Southeast Asian ovalocytosis
    • Wrong O, Bruce L, Unwin RJ, Toye AM, Tanner MJA. Band 3 mutations, distal renal tubular acidosis, and Southeast Asian ovalocytosis. Kidney Int 2002; 62: 10-9.
    • (2002) Kidney Int , vol.62 , pp. 10-19
    • Wrong, O.1    Bruce, L.2    Unwin, R.J.3    Toye, A.M.4    Tanner, M.J.A.5
  • 40
    • 0029823248 scopus 로고    scopus 로고
    • Unravelling of the molecular mechanisms of kidney stones
    • Wrong O, Unwin RJ, Cohen E, et al. Unravelling of the molecular mechanisms of kidney stones. Lancet 1996; 348: 1561-5.
    • (1996) Lancet , vol.348 , pp. 1561-1565
    • Wrong, O.1    Unwin, R.J.2    Cohen, E.3
  • 41
    • 0036280660 scopus 로고    scopus 로고
    • Autosomal recessive distal renal tubular acidosis caused by G701D mutation of anion exchanger 1 gene
    • Yenchitsomanus P, Vasuvattakul S, Kirdpon S, et al. Autosomal recessive distal renal tubular acidosis caused by G701D mutation of anion exchanger 1 gene. Am J Kidney Dis 2002; 40: 21-9.
    • (2002) Am J Kidney Dis , vol.40 , pp. 21-29
    • Yenchitsomanus, P.1    Vasuvattakul, S.2    Kirdpon, S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.