Hereditary distal renal tubular acidosis: new understandings

scientific article

Hereditary distal renal tubular acidosis: new understandings is …
instance of (P31):
scholarly articleQ13442814
review articleQ7318358

External links are
P356DOI10.1146/ANNUREV.MED.52.1.471
P698PubMed publication ID11160790

P2093author name stringJain S
Mitra A
Batlle D
Ghanekar H
P921main subjectrenal tubular acidosisQ1516211
distal renal tubular acidosisQ2896802
P304page(s)471-484
P577publication date2001-01-01
P1433published inAnnual Review of MedicineQ567363
P1476titleHereditary distal renal tubular acidosis: new understandings
P478volume52

Reverse relations

cites work (P2860)
Q47144254A child with distal (type 1) renal tubular acidosis presenting with progressive gross motor developmental regression and acute paralysis.
Q44443649A de novo R589C mutation of anion exchanger 1 causing distal renal tubular acidosis
Q48728351A mathematical model of rat collecting duct. III. Paradigms for distal acidification defects
Q24305531A novel missense mutation in AE1 causing autosomal dominant distal renal tubular acidosis retains normal transport function but is mistargeted in polarized epithelial cells
Q34726853Aldosterone requires vasopressin V1a receptors on intercalated cells to mediate acid-base homeostasis
Q36699847Altered V-ATPase expression in renal intercalated cells isolated from B1 subunit-deficient mice by fluorescence-activated cell sorting
Q44561218Anion exchanger 1 mutations associated with distal renal tubular acidosis in the Thai population
Q39680622Cell surface rescue of kidney anion exchanger 1 mutants by disruption of chaperone interactions
Q28588238Compensatory membrane expression of the V-ATPase B2 subunit isoform in renal medullary intercalated cells of B1-deficient mice
Q40900005Distal renal tubular acidosis in mice that lack the forkhead transcription factor Foxi1
Q88564133Distal renal tubular acidosis. Clinical manifestations in patients with different underlying gene mutations
Q40142123Effect of block deletions in the C-terminus on the functional expression of human anion exchanger 1 (AE1).
Q50358114Genetic causes and mechanisms of distal renal tubular acidosis
Q30244548Heterogeneity of Hereditary Hearing Loss in Iran: a Comprehensive Review
Q41848405Hypokalemic quadriparesis and rhabdomyolysis as a rare presentation of distal renal tubular acidosis.
Q40740083Impaired trafficking of distal renal tubular acidosis mutants of the human kidney anion exchanger kAE1.
Q40704496Impaired trafficking of human kidney anion exchanger (kAE1) caused by hetero-oligomer formation with a truncated mutant associated with distal renal tubular acidosis
Q36856556Importance of early audiologic assessment in distal renal tubular acidosis
Q37403141Inactivation of Notch signaling in the renal collecting duct causes nephrogenic diabetes insipidus in mice
Q36945018Increased propensity for calcium phosphate kidney stones with topiramate use.
Q28207921Molecular 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
Q24301941Molecular 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
Q37241873Molecular mechanisms of autosomal dominant and recessive distal renal tubular acidosis caused by SLC4A1 (AE1) mutations
Q41678790Mutations in exons 3 and 7 resulting in truncated expression of human ATP6V1B1 gene showing structural variations contributing to poor substrate binding-causative reason for distal renal tubular acidosis with sensorineural deafness
Q51924446Protein p0071, an armadillo plaque protein of adherens junctions, is predominantly expressed in distal renal tubules.
Q36740984Proximal renal tubular acidosis: a not so rare disorder of multiple etiologies
Q34350645Renal vacuolar H+-ATPase
Q92267719Severe metabolic alkalosis due to diuretic treatment in a patient with distal renal tubular acidosis: a rare association
Q37526569Severe osteomalacia presenting with multiple vertebral fractures: a case report and review of the literature
Q37588679Successful Management of Refractory Type 1 Renal Tubular Acidosis with Amiloride
Q30434681The zebrafish merovingian mutant reveals a role for pH regulation in hair cell toxicity and function
Q50521636dRTA and hemolytic anemia: first detailed description of SLC4A1 A858D mutation in homozygous state.

Search more.