scholarly article | Q13442814 |
P356 | DOI | 10.1074/JBC.M400188200 |
P698 | PubMed publication ID | 14734552 |
P50 | author | Fiona E Karet | Q55691016 |
Frank Reimann | Q61094331 | ||
P2093 | author name string | Pa-Thai Yenchitsomanus | |
Varaporn Akkarapatumwong | |||
William M Bennett | |||
Mark A J Devonald | |||
Alan W Cuthbert | |||
Nanyawan Rungroj | |||
P2860 | cites work | Non-polarized targeting of AE1 causes autosomal dominant distal renal tubular acidosis | Q24293024 |
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 | ||
Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene | Q24561520 | ||
Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS) | Q24635921 | ||
Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis | Q24647772 | ||
Genetic diseases of acid-base transporters | Q28217352 | ||
New insights into the pathogenesis of renal tubular acidosis--from functional to molecular studies | Q34068233 | ||
Hereditary distal renal tubular acidosis: new understandings | Q34132029 | ||
Novel topology in C-terminal region of the human plasma membrane anion exchanger, AE1. | Q34160435 | ||
Inherited distal renal tubular acidosis. | Q34758982 | ||
Effects of primer-template mismatches on the polymerase chain reaction: human immunodeficiency virus type 1 model studies | Q35829749 | ||
Bicarbonate and chloride secretion in Calu-3 human airway epithelial cells | Q36420455 | ||
Novel AE1 mutations in recessive distal renal tubular acidosis. Loss-of-function is rescued by glycophorin A. | Q37388345 | ||
Structural aspects of the red cell anion exchange protein | Q39740466 | ||
Impaired trafficking of human kidney anion exchanger (kAE1) caused by hetero-oligomer formation with a truncated mutant associated with distal renal tubular acidosis | Q40704496 | ||
Impaired trafficking of distal renal tubular acidosis mutants of the human kidney anion exchanger kAE1. | Q40740083 | ||
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 | ||
A novel cellular phenotype for familial hypercholesterolemia due to a defect in polarized targeting of LDL receptor | Q40801530 | ||
A role for the beta-subunit in the expression of functional Na+-K+-ATPase in Xenopus oocytes | Q41782467 | ||
Comparison of the osmolyte transport properties induced by trAE1 versus IClswell in Xenopus oocytes | Q43916362 | ||
Autosomal recessive distal renal tubular acidosis caused by G701D mutation of anion exchanger 1 gene | Q44043669 | ||
A de novo R589C mutation of anion exchanger 1 causing distal renal tubular acidosis | Q44443649 | ||
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 | ||
Inhibitory interactions between two inward rectifier K+ channel subunits mediated by the transmembrane domains | Q49016947 | ||
The acid test for band 3 | Q60081254 | ||
Autosomal recessive distal renal tubular acidosis associated with Southeast Asian ovalocytosis | Q73205070 | ||
Atypical distal renal tubular acidosis confirmed by mutation analysis | Q73373645 | ||
A novel mutation in the anion exchanger 1 gene is associated with familial distal renal tubular acidosis and nephrocalcinosis | Q79342764 | ||
P433 | issue | 14 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | distal renal tubular acidosis | Q2896802 |
solute carrier family 4 member 1 (Diego blood group) | Q425149 | ||
renal tubular acidosis | Q1516211 | ||
P304 | page(s) | 13833-8 | |
P577 | publication date | 2004-04-02 | |
P1433 | published in | Journal of Biological Chemistry | Q867727 |
P1476 | title | A novel missense mutation in AE1 causing autosomal dominant distal renal tubular acidosis retains normal transport function but is mistargeted in polarized epithelial cells | |
P478 | volume | 279 |
Q80076621 | A mutant of the Arabidopsis phosphate transporter PHT1;1 displays enhanced arsenic accumulation |
Q42853667 | A novel SLC4A1 variant in an autosomal dominant distal renal tubular acidosis family with a severe phenotype |
Q38911591 | Acidosis and Urinary Calcium Excretion: Insights from Genetic Disorders |
Q46857168 | An analysis of renal tubular acidosis by the Stewart method |
Q33628362 | Autosomal dominant distal renal tubular acidosis caused by a mutation in the anion exchanger 1 gene in a Japanese family |
Q38255748 | Bicarbonate transport in health and disease |
Q48749168 | Cation transport activity of anion exchanger 1 mutations found in inherited distal renal tubular acidosis |
Q39680622 | Cell surface rescue of kidney anion exchanger 1 mutants by disruption of chaperone interactions |
Q39821916 | Compound mutations in human anion exchanger 1 are associated with complete distal renal tubular acidosis and hereditary spherocytosis |
Q88564133 | Distal renal tubular acidosis. Clinical manifestations in patients with different underlying gene mutations |
Q40253903 | Expression and interaction of two compound heterozygous distal renal tubular acidosis mutants of kidney anion exchanger 1 in epithelial cells |
Q24322913 | Functional analysis of a novel missense NBC1 mutation and of other mutations causing proximal renal tubular acidosis |
Q50358114 | Genetic causes and mechanisms of distal renal tubular acidosis |
Q39656914 | Human kidney anion exchanger 1 interacts with adaptor-related protein complex 1 μ1A (AP-1 mu1A) |
Q40531923 | Identification of a carboxyl-terminal motif essential for the targeting of Na+-HCO-3 cotransporter NBC1 to the basolateral membrane |
Q60303041 | Improving outcomes for patients with distal renal tubular acidosis: recent advances and challenges ahead |
Q36844436 | Inherited renal acidoses. |
Q42204923 | Loss of kAE1 expression in collecting ducts of end-stage kidneys from a family with SLC4A1 G609R-associated distal renal tubular acidosis |
Q40457704 | Missense mutations in Na+:HCO3- cotransporter NBC1 show abnormal trafficking in polarized kidney cells: a basis of proximal renal tubular acidosis. |
Q42614752 | Molecular Approach for Distal Renal Tubular Acidosis Associated AE1 Mutations |
Q90195760 | Molecular Simulations of Intact Anion Exchanger 1 Reveal Specific Domain and Lipid Interactions |
Q30400815 | Molecular analysis of sequence and splice variants of the human SLC13A4 sulfate transporter |
Q37241873 | Molecular mechanisms of autosomal dominant and recessive distal renal tubular acidosis caused by SLC4A1 (AE1) mutations |
Q36050939 | Mutation conferring apical-targeting motif on AE1 exchanger causes autosomal dominant distal RTA. |
Q50277888 | Primary distal renal tubular acidosis: novel findings in patients studied by next-generation sequencing |
Q90182842 | Red Blood Cell AE1/Band 3 Transports in Dominant Distal Renal Tubular Acidosis Patients |
Q37412431 | Regulated acid-base transport in the collecting duct |
Q36450027 | Regulation of transport in the connecting tubule and cortical collecting duct |
Q28484443 | Restoration of proper trafficking to the cell surface for membrane proteins harboring cysteine mutations |
Q36388616 | SLC4 base (HCO3 -, CO3 2-) transporters: classification, function, structure, genetic diseases, and knockout models |
Q91236096 | Structural mechanism of the active bicarbonate transporter from cyanobacteria |
Q42852253 | The activity of the thiazide-sensitive Na(+)-Cl(-) cotransporter is regulated by protein phosphatase PP4. |
Q40278577 | The human NBCe1-A mutant R881C, associated with proximal renal tubular acidosis, retains function but is mistargeted in polarized renal epithelia |
Q64092677 | The kidney anion exchanger 1 affects tight junction properties via claudin-4 |
Q38338952 | Trafficking defects of a novel autosomal recessive distal renal tubular acidosis mutant (S773P) of the human kidney anion exchanger (kAE1). |
Q36704530 | Unraveling trafficking of the kidney anion exchanger 1 in polarized MDCK epithelial cells |
Q40417631 | Zebrafish slc4a2/ae2 anion exchanger: cDNA cloning, mapping, functional characterization, and localization |
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