scholarly article | Q13442814 |
P6179 | Dimensions Publication ID | 1036527412 |
P356 | DOI | 10.1007/S12020-010-9340-6 |
P953 | full work available at URL | http://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 | ||
P698 | PubMed publication ID | 20960171 |
P2093 | author name string | Yan Xu | |
Qian Dong | |||
Leping Shao | |||
Shaoheng Yue | |||
Yanhua Lang | |||
Zhimin Miao | |||
P2860 | cites work | American Journal of Physiology | Q2160146 |
Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness | Q22008703 | ||
Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing | Q24290187 | ||
A novel missense mutation in AE1 causing autosomal dominant distal renal tubular acidosis retains normal transport function but is mistargeted in polarized epithelial cells | Q24305531 | ||
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 | Q24532109 | ||
Localization of a gene for autosomal recessive distal renal tubular acidosis with normal hearing (rdRTA2) to 7q33-34 | Q24534382 | ||
Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene | Q24561520 | ||
Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis | Q24647772 | ||
Identification of the carbonic anhydrase II binding site in the Cl(-)/HCO(3)(-) anion exchanger AE1 | Q28144854 | ||
Carbonic anhydrase II binds to the carboxyl terminus of human band 3, the erythrocyte C1-/HCO3- exchanger | Q28285560 | ||
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 crystallization | Q40818602 | ||
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 gene | Q44043669 | ||
Metabolic acidosis inhibits growth hormone secretion in rats: mechanism of growth retardation | Q45090647 | ||
Effect of metabolic acidosis on the expression of insulin-like growth factor and growth hormone receptor | Q45091484 | ||
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- exchanger | Q48943537 | ||
Recessive distal renal tubular acidosis in Sarawak caused by AE1 mutations. | Q50750926 | ||
Autosomal recessive distal renal tubular acidosis associated with Southeast Asian ovalocytosis | Q73205070 | ||
Potassium citrate/citric acid intake improves renal function in rats with polycystic kidney disease | Q74720172 | ||
Hereditary spherocytosis due to a novel frameshift mutation in AE1 cytoplasmic COOH terminal tail: band 3 Vesuvio | Q77214596 | ||
A novel mutation in the anion exchanger 1 gene is associated with familial distal renal tubular acidosis and nephrocalcinosis | Q79342764 | ||
Distal renal tubular acidosis in Filipino children, caused by mutations of the anion-exchanger SLC4A1 (AE1, Band 3) gene | Q82480043 | ||
Prevention of recurrent calcium stone formation with potassium citrate therapy in patients with distal renal tubular acidosis | Q93578439 | ||
P433 | issue | 3 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | renal tubular acidosis | Q1516211 |
distal renal tubular acidosis | Q2896802 | ||
P304 | page(s) | 473-478 | |
P577 | publication date | 2010-04-17 | |
P1433 | published in | Endocrine | Q15757048 |
P1476 | title | A novel SLC4A1 variant in an autosomal dominant distal renal tubular acidosis family with a severe phenotype | |
P478 | volume | 37 |
Q92200827 | A novel homozygous deletion in ATP6V0A4 causes distal renal tubular acidosis: A case report |
Q33628362 | Autosomal dominant distal renal tubular acidosis caused by a mutation in the anion exchanger 1 gene in a Japanese family |
Q88564133 | Distal renal tubular acidosis. Clinical manifestations in patients with different underlying gene mutations |
Q28487020 | Functional rescue of a kidney anion exchanger 1 trafficking mutant in renal epithelial cells |
Q60303041 | Improving outcomes for patients with distal renal tubular acidosis: recent advances and challenges ahead |
Q50354882 | Mutation analysis and audiologic assessment in six Chinese children with primary distal renal tubular acidosis |
Q60044371 | Novel compound heterozygous ATP6V1B1 mutations in a Chinese child patient with primary distal renal tubular acidosis: a case report |
Q52730639 | Progressive glomerular and tubular damage in sickle cell trait and sickle cell anemia mouse models. |
Q36450027 | Regulation of transport in the connecting tubule and cortical collecting duct |
Q89983217 | Screening and function discussion of a hereditary renal tubular acidosis family pathogenic gene |
Q38785677 | The carboxyl-terminally truncated kidney anion exchanger 1 R901X dRTA mutant is unstable at the plasma membrane |