| 1 | Impaired trafficking and intracellular retention of m utant kidney anion exchanger 1 proteins (G701D and A858D) associated with dista l renal tubular acidosis. (20151848) | Ungsupravate D.... Yenchitsomanus P.T. | 2010 | SLC4A1 |
| 2 | Novel compound heterozygous ATP6V0A4 mutations in an infant with distal renal tubular acidosis. (20221774) | Saito T.... Kamoda T. | 2010 | ATP6V0A4 |
| 3 | Distal renal tubular acidosis in Filipino children, c aused by mutations of the anion-exchanger SLC4A1 (AE1, Band 3) gene. (20068363) | Anacleto F.E.... Wrong O. | 2010 | SLC4A1 |
| 4 | Genetic studies in a family with distal renal tubular acidosis and sensorineural deafness. (19478356) | Sethi S.K.... Bagga A. | 2009 | ATP6V1B1 |
| 5 | Southeast Asian AE1 associated renal tubular acidosis: cation leak is a class effect. (19289107) | Walsh S.... Guizouarn H. | 2009 | SLC4A1 |
| 6 | Medullary sponge kidney associated with primary dista l renal tubular acidosis and mutations of the H+-ATPase genes. (19364879) | Carboni I.... Giglio S. | 2009 | ATP6V0A4, ATP6V1B1 |
| 7 | Primary distal renal tubular acidosis (19297287) | Bouzidi H.... Najjar M.F. | 2009 | ATP6V0A4, ATP6V1B1 |
| 8 | Dominant-negative effect of Southeast Asian ovalocyto sis anion exchanger 1 in compound heterozygous distal renal tubular acidosis. (17941824) | Kittanakom S.... Reithmeier R.A. | 2008 | SLC4A1 |
| 9 | Atypical presentation of distal renal tubular acidosis in two siblings. (18386070) | Tasic V.... Cheong H.I. | 2008 | ATP6V1B1 |
| 10 | Immunohistochemical comparison of a case of inherited distal renal tubular acidosis (with a unique AE1 mutation) with an acquired case secondary to autoimmune disease. (17205967) | Walsh S.... Unwin R. | 2007 | SLC4A1 |
| 11 | Distal renal tubular acidosis associated with anion exchanger 1 mutations in children in Thailand. (17533027) | Khositseth S.... Yenchitsomanus P.T. | 2007 | SLC4A1 |
| 12 | Distal renal tubular acidosis in mice lacking the AE1 (band3) Cl-/HCO3- exchanger (slc4a1). (17409310) | Stehberger P.A.... Wagner C.A. | 2007 | SLC4A1 |
| 13 | Effects of human a3 and a4 mutations that result in osteopetrosis and distal renal tubular acidosis on yeast V-ATPase expression and activity. (16840787) | Ochotny N.... Manolson M.F. | 2006 | ATP6V0E1 |
| 14 | Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene. (16611712) | Vargas-Poussou R.... Blanchard A. | 2006 | ATP6V0A4, ATP6V1B1, MT-ATP6 |
| 15 | Dominant and recessive distal renal tubular acidosis mutations of kidney anion exchanger 1 induce distinct trafficking defects in MDCK cells. (16420521) | Cordat E.... Reithmeier R.A. | 2006 | SLC4A1 |
| 16 | Trafficking defect of mutant kidney anion exchanger 1 (kAE1) proteins associated with distal renal tubular acidosis and Southeast Asian ovalocytosis. (17027918) | Sawasdee N.... Yenchitsomanus P.T. | 2006 | SLC4A1 |
| 17 | Functional analysis of NBC1 mutants associated with proximal renal tubular acidosis and ocular abnormalities. (15930088) | Horita S.... Fujita T. | 2005 | SLC4A4 |
| 18 | Autoantibodies against carbonic anhydrase II are increased in renal tubular acidosis associated with Sjogren syndrome. (15694905) | Takemoto F.... Uchida S. | 2005 | CA2 |
| 19 | Defective kidney anion-exchanger 1 (AE1, Band 3) trafficking in dominant distal renal tubular acidosis (dRTA). (15649129) | Toye A.M. | 2005 | SLC4A1 |
| 20 | Clinical review: Renal tubular acidosis--a physicochemical approach. (16356241) | Ring T.... Nielsen S. | 2005 | SLC4A7 |
| 21 | Molecular mechanisms of autosomal dominant and recess ive distal renal tubular acidosis caused by SLC4A1 (AE1) mutations. (19565014) | Yenchitsomanus P.T.... Reithmeier R.A. | 2005 | SLC4A1 |
| 22 | Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype- phenotype correlation. (15300855) | Shah G.N.... Sly W.S. | 2004 | CA2 |
| 23 | A novel missense mutation in AE1 causing autosomal dominant distal renal tubular acidosis retains normal transport function but is mistargeted in polarized epithelial cells. (14734552) | Rungroj N.... Karet F.E. | 2004 | SLC4A1 |
| 24 | Possible association between cell membrane band 3 impairment function and renal tubular acidosis (liver diseases, malignancies and adverse drug reactions). (14764976) | Stakisaitis D.... Tschaika M. | 2004 | SLC4A2 |
| 25 | Defects in processing and trafficking of the AE1 Cl-/HCO3- exchanger associated with inherited distal renal tubular acidosis. (15067510) | Shayakul C.... Alper S.L. | 2004 | SLC4A1 |
| 26 | A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis. (12566520) | Borthwick K.J.... Karet F.E. | 2003 | CA2, TCIRG1 |
| 27 | ATP6B1 gene mutations associated with distal renal tubular acidosis and deafness in a child. (12500243) | Hahn H.... Choi Y. | 2003 | ATP6V1B1 |
| 28 | Non-polarized targeting of AE1 causes autosomal domin ant distal renal tubular acidosis. (12539048) | Devonald M.A.... Karet F.E. | 2003 | SLC4A1 |
| 29 | A de novo R589C mutation of anion exchanger 1 causing distal renal tubular acidosis. (12750988) | Sritippayawan S.... Yenchitsomanus P.T. | 2003 | SLC4A1 |
| 30 | Confirmation of the ATP6B1 gene as responsible for distal renal tubular acidosis. (12579397) | Ruf R.... Hildebrandt F. | 2003 | ATP6V1B1 |
| 31 | Autosomal recessive distal renal tubular acidosis caused by G701D mutation of anion exchanger 1 gene. (12087557) | Yenchitsomanus P.T.... Nimmannit S. | 2002 | SLC4A1 |
| 32 | Impaired trafficking of distal renal tubular acidosis mutants of the human kidney anion exchanger kAE1. (11934690) | Quilty J.A.... Reithmeier R.A. | 2002 | SLC4A1, SLC4A1AP |
| 33 | Impaired trafficking of human kidney anion exchanger (kAE1) caused by hetero-oligomer formation with a truncated mutant associated with distal renal tubular acidosis. (12227829) | Quilty J.A.... Reithmeier R.A. | 2002 | SLC4A1 |
| 34 | Osteopetrosis, renal tubular acidosis without urinary concentration abnormality, cerebral calcification and severe mental retardation in three Turkish brothers. (11795660) | Ocal G.... EvliyaoA9lu O. | 2001 | CA2 |
| 35 | Novel nonsense mutation in the Na+/HCO3- cotransporter gene (SLC4A4) in a patient with permanent isolated proximal renal tubular acidosis and bilateral glaucoma. (11274232) | Igarashi T.... Endou H. | 2001 | SLC4A4 |
| 36 | Hereditary distal renal tubular acidosis: new understandings. (11160790) | Batlle D.... Mitra A. | 2001 | SLC4A1, ATP6V1B1 |
| 37 | 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. (10926824) | Bruce L.J.... Tanner M.J.A. | 2000 | SLC4A1 |
| 38 | Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3. (10942416) | Ribeiro M.L.... Tamagnini G. | 2000 | SLC4A1 |
| 39 | Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116- kD subunit, cause recessive distal renal tubular acidosis with preserved hearing. (10973252) | Smith A.N.... Karet F.E. | 2000 | ATP6V0A4 |
| 40 | Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness. (9916796) | Karet F.E.... Lifton R.P. | 1999 | ATP6V1B1 |
| 41 | Environmental distal renal tubular acidosis in Thaila nd: an enigma. (10352213) | Tosukhowong P.... Sitprija V. | 1999 | DNAH8 |
| 42 | Novel AE1 mutations in recessive distal renal tubular acidosis: loss- of-function is rescued by glycophorin A. (9854053) | Tanphaichitr V.S.... Alper S.L. | 1998 | SLC4A1 |
| 43 | Renal tubular acidosis and osteopetrosis with carbonic anhydrase II deficiency. (9630052) | Repetto H.A. | 1998 | CA2 |
| 44 | A young woman with metabolic acidosis and recently discovered IDDM without ketonuria. A rare autoimmune (?) combination of hypothyroidism, diabetes mellitus and distal renal tubular acidosis (9771061) | Maeng M.... Pedersen K.M. | 1998 | GAD2 |
| 45 | Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis. (9600966) | Karet F.E.... Lifton R.P. | 1998 | SLC4A1 |
| 46 | Correction of renal tubular acidosis in carbonic anhydrase II-deficient mice with gene therapy. (9525974) | Lai L.W.... Lien Y.H. | 1998 | CA2 |
| 47 | Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene. (9312167) | Bruce L.J.... Tanner M.J. | 1997 | SLC4A1 |
| 48 | A case of Hashimoto's thyroiditis associated with renal tubular acidosis, SjAPgren syndrome and empty sella syndrome (1468597) | Yoshiiwa A.... Ogihara T. | 1992 | HSPG2 |
| 49 | Case report 668. Carbonic anhydrase II deficiency syndrome (osteopetrosis associated with renal tubular acidosis and cerebral calcification). (1925679) | Schwartz G.J.... Dorfman H.D. | 1991 | CA2 |
| 50 | Carbonic anhydrase II deficiency in 12 families with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification. (3925334) | Sly W.S.... Al-Mosawi M. | 1985 | CA2 |
Kidney -> Proximal Tubule -> 
