| 1 | Tropical distal renal tubular acidosis: clinical and e pidemiological studies in 78 patients. (22919024) | Khositseth S.... Wrong O. | 2012 | SLC4A1 |
| 2 | Founder mutations in the ATP6V1B1 gene explain most C ypriot cases of distal renal tubular acidosis: first prenatal diagnosis. (20805693) | Elia A.... Deltas C. | 2011 | ATP6V1B1 |
| 3 | 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 |
| 4 | Distal renal tubular acidosis and its relationship wi th hearing loss in children: preliminary report. (20622307) | Sharifian M.... Hassas-Yeganeh M. | 2010 | ATP6V1B1 |
| 5 | A novel SLC4A1 variant in an autosomal dominant dista l renal tubular acidosis family with a severe phenotype. (20960171) | Shao L.... Miao Z. | 2010 | SLC4A1 |
| 6 | 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 |
| 7 | Southeast Asian AE1 associated renal tubular acidosis: cation leak is a class effect. (19289107) | Walsh S.... Guizouarn H. | 2009 | SLC4A1 |
| 8 | Primary distal renal tubular acidosis (19297287) | Bouzidi H.... Najjar M.F. | 2009 | ATP6V0A4, ATP6V1B1 |
| 9 | Hematological abnormalities in patients with distal renal tubular acidosis and hemoglobinopathies. (18266205) | Khositseth S.... Yenchitsomanus P.T. | 2008 | SLC4A1 |
| 10 | Familial pure proximal renal tubular acidosis--a clinical and genetic study. (17881426) | Katzir Z.... Holtzman E. | 2008 | CA2, CA4, SLC4A4 |
| 11 | 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 |
| 12 | Human H+ATPase a4 subunit mutations causing renal tubular acidosis reveal a role for interaction with phosphofructokinase-1. (18632794) | Su Y.... Karet F.E. | 2008 | ATP6V0A4, DNAH8 |
| 13 | Distal renal tubular acidosis associated with anion exchanger 1 mutations in children in Thailand. (17533027) | Khositseth S.... Yenchitsomanus P.T. | 2007 | SLC4A1 |
| 14 | Sibling cases of Vici syndrome: sleep abnormalities and complications of renal tubular acidosis. (17163544) | Miyata R.... Kohyama J. | 2007 | NPPB |
| 15 | 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 |
| 16 | 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 |
| 17 | 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. (16433694) | Feldman M.... Deltas C.C. | 2006 | ATP6V1B1 |
| 18 | Recessive distal renal tubular acidosis in Sarawak caused by AE1 mutations. (16252102) | Choo K.E.... Wrong O.M. | 2006 | SLC4A1 |
| 19 | Expression and interaction of two compound heterozygous distal renal tubular acidosis mutants of kidney anion exchanger 1 in epithelial cells. (16849697) | Cordat E.... Reithmeier R.A. | 2006 | SLC4A1 |
| 20 | Autoantibodies against carbonic anhydrase II are increased in renal tubular acidosis associated with Sjogren syndrome. (15694905) | Takemoto F.... Uchida S. | 2005 | CA2 |
| 21 | Defective kidney anion-exchanger 1 (AE1, Band 3) trafficking in dominant distal renal tubular acidosis (dRTA). (15649129) | Toye A.M. | 2005 | SLC4A1 |
| 22 | 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 |
| 23 | Characterization of a highly polymorphic marker adjacent to the SLC4A1 gene and of kidney immunostaining in a family with distal renal tubular acidosis. (14736961) | Shayakul C.... Alper S.L. | 2004 | SLC4A1 |
| 24 | 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 |
| 25 | 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 |
| 26 | Mutational and functional analysis of SLC4A4 in a patient with proximal renal tubular acidosis. (15085340) | Inatomi J.... Igarashi T. | 2004 | SLC4A4 |
| 27 | 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 |
| 28 | High prevalence of Southeast Asian ovalocytosis in Malays with distal renal tubular acidosis. (14618420) | Yusoff N.M.... Matsuo M. | 2003 | SLC4A1 |
| 29 | Human anion exchanger1 mutations and distal renal tubular acidosis. (15115146) | 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 | 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. (12384298) | Smith A.N.... Karet F.E. | 2002 | ATP6V1C1, ATP6V0A4, ATP6V1B1 |
| 32 | Deafness and renal tubular acidosis in mice lacking the K-Cl co-transporter Kcc4. (11976689) | Boettger T.... Jentsch T.J. | 2002 | SLC12A7 |
| 33 | Molecular basis of proximal renal tubular acidosis. (12027212) | Igarashi T.... Watanabe H. | 2002 | SLC4A4 |
| 34 | Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss. (12414817) | Stover E.H.... Karet F.E. | 2002 | ATP6V0A4, ATP6V1B1 |
| 35 | 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 |
| 36 | Rapid improvement of osteomalacia by treatment in a case with SjAPgren's syndrome, rheumatoid arthritis and renal tubular acidosis type 1. (11518137) | Okada M.... Ohsuzu F. | 2001 | HSPG2 |
| 37 | Molecular basis of ocular abnormalities associated with proximal renal tubular acidosis. (11435462) | Usui T.... Seki G. | 2001 | SLC4A4 |
| 38 | Sensorineural hearing loss in distal renal tubular acidosis, nephrocalcinosis and microcytic anemia (11139892) | Ptok M. | 2000 | ATP6V1B1 |
| 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 | Distal renal tubular acidosis and high urine carbon dioxide tension in a patient with southeast Asian ovalocytosis. (10352205) | Kaitwatcharachai C.... Nimmannit S. | 1999 | SLC4A1 |
| 41 | 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 |
| 42 | Environmental distal renal tubular acidosis in Thaila nd: an enigma. (10352213) | Tosukhowong P.... Sitprija V. | 1999 | DNAH8 |
| 43 | 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. (9497368) | Jarolim P.... Alper S.L. | 1998 | SLC4A1 |
| 44 | Correction of renal tubular acidosis in carbonic anhydrase II-deficient mice with gene therapy. (9525974) | Lai L.W.... Lien Y.H. | 1998 | CA2 |
| 45 | Incomplete distal renal tubular acidosis coinherited with a mutation in the band 3 (AE1) gene. (9306337) | Rysava R.... Jarolim P. | 1997 | SLC4A1 |
| 46 | Rate-dependent distal renal tubular acidosis and carnitine palmitoyltransferase I deficiency. (7877875) | Bergman A.J.... Poll-The B.T. | 1994 | CPT1A |
| 47 | A case of Hashimoto's thyroiditis associated with renal tubular acidosis, SjAPgren syndrome and empty sella syndrome (1468597) | Yoshiiwa A.... Ogihara T. | 1992 | HSPG2 |
| 48 | A case of primary SjAPgren's syndrome presenting as osteomalacia secondary to renal tubular acidosis (1857996) | Okazaki H.... Kano S. | 1991 | 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 -> 
