A novel SLC4A1 variant in an autosomal dominant distal renal tubular acidosis family with a severe phenotype

scientific article published on April 17, 2010

A novel SLC4A1 variant in an autosomal dominant distal renal tubular acidosis family with a severe phenotype is …
instance of (P31):
scholarly articleQ13442814

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P6179Dimensions Publication ID1036527412
P356DOI10.1007/S12020-010-9340-6
P953full work available at URLhttp://link.springer.com/content/pdf/10.1007/s12020-010-9340-6.pdf
http://link.springer.com/article/10.1007/s12020-010-9340-6/fulltext.html
http://link.springer.com/content/pdf/10.1007/s12020-010-9340-6
P698PubMed publication ID20960171

P2093author name stringYan Xu
Qian Dong
Leping Shao
Shaoheng Yue
Yanhua Lang
Zhimin Miao
P2860cites workAmerican Journal of PhysiologyQ2160146
Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafnessQ22008703
Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearingQ24290187
A novel missense mutation in AE1 causing autosomal dominant distal renal tubular acidosis retains normal transport function but is mistargeted in polarized epithelial cellsQ24305531
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 cellsQ24532109
Localization of a gene for autosomal recessive distal renal tubular acidosis with normal hearing (rdRTA2) to 7q33-34Q24534382
Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) geneQ24561520
Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosisQ24647772
Identification of the carbonic anhydrase II binding site in the Cl(-)/HCO(3)(-) anion exchanger AE1Q28144854
Carbonic anhydrase II binds to the carboxyl terminus of human band 3, the erythrocyte C1-/HCO3- exchangerQ28285560
Cloning and characterization of band 3, the human erythrocyte anion-exchange protein (AE1)Q28609272
Inherited distal renal tubular acidosis.Q34758982
Novel AE1 mutations in recessive distal renal tubular acidosis. Loss-of-function is rescued by glycophorin A.Q37388345
Trafficking defects of a novel autosomal recessive distal renal tubular acidosis mutant (S773P) of the human kidney anion exchanger (kAE1).Q38338952
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.Q40760916
Effects of citrate on the different phases of calcium oxalate crystallizationQ40818602
The structure and function of band 3 (AE1): recent developments (review).Q41716122
Autosomal recessive distal renal tubular acidosis caused by G701D mutation of anion exchanger 1 geneQ44043669
Metabolic acidosis inhibits growth hormone secretion in rats: mechanism of growth retardationQ45090647
Effect of metabolic acidosis on the expression of insulin-like growth factor and growth hormone receptorQ45091484
Novel compound heterozygous SLC4A1 mutations in Thai patients with autosomal recessive distal renal tubular acidosis.Q47307811
Localization of the gene for the erythroid anion exchange protein, band 3 (EMPB3), to human chromosome 17.Q48338876
Autosomal dominant distal renal tubular acidosis is associated in three families with heterozygosity for the R589H mutation in the AE1 (band 3) Cl-/HCO3- exchangerQ48943537
Recessive distal renal tubular acidosis in Sarawak caused by AE1 mutations.Q50750926
Autosomal recessive distal renal tubular acidosis associated with Southeast Asian ovalocytosisQ73205070
Potassium citrate/citric acid intake improves renal function in rats with polycystic kidney diseaseQ74720172
Hereditary spherocytosis due to a novel frameshift mutation in AE1 cytoplasmic COOH terminal tail: band 3 VesuvioQ77214596
A novel mutation in the anion exchanger 1 gene is associated with familial distal renal tubular acidosis and nephrocalcinosisQ79342764
Distal renal tubular acidosis in Filipino children, caused by mutations of the anion-exchanger SLC4A1 (AE1, Band 3) geneQ82480043
Prevention of recurrent calcium stone formation with potassium citrate therapy in patients with distal renal tubular acidosisQ93578439
P433issue3
P407language of work or nameEnglishQ1860
P921main subjectrenal tubular acidosisQ1516211
distal renal tubular acidosisQ2896802
P304page(s)473-478
P577publication date2010-04-17
P1433published inEndocrineQ15757048
P1476titleA novel SLC4A1 variant in an autosomal dominant distal renal tubular acidosis family with a severe phenotype
P478volume37

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cites work (P2860)
Q92200827A novel homozygous deletion in ATP6V0A4 causes distal renal tubular acidosis: A case report
Q33628362Autosomal dominant distal renal tubular acidosis caused by a mutation in the anion exchanger 1 gene in a Japanese family
Q88564133Distal renal tubular acidosis. Clinical manifestations in patients with different underlying gene mutations
Q28487020Functional rescue of a kidney anion exchanger 1 trafficking mutant in renal epithelial cells
Q60303041Improving outcomes for patients with distal renal tubular acidosis: recent advances and challenges ahead
Q50354882Mutation analysis and audiologic assessment in six Chinese children with primary distal renal tubular acidosis
Q60044371Novel compound heterozygous ATP6V1B1 mutations in a Chinese child patient with primary distal renal tubular acidosis: a case report
Q52730639Progressive glomerular and tubular damage in sickle cell trait and sickle cell anemia mouse models.
Q36450027Regulation of transport in the connecting tubule and cortical collecting duct
Q89983217Screening and function discussion of a hereditary renal tubular acidosis family pathogenic gene
Q38785677The carboxyl-terminally truncated kidney anion exchanger 1 R901X dRTA mutant is unstable at the plasma membrane