Genetic causes and mechanisms of distal renal tubular acidosis.
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Molecular mechanisms and regulation of urinary acidificationThe zebrafish merovingian mutant reveals a role for pH regulation in hair cell toxicity and function.Rhabdomyolysis as the first manifestation of human immunodeficiency virus infectionAutosomal dominant distal renal tubular acidosis caused by a mutation in the anion exchanger 1 gene in a Japanese family.Refractory rickets caused by mild distal renal tubular acidosis.Signification of distal urinary acidification defects in hypocitraturic patients.NBCe1 as a model carrier for understanding the structure-function properties of Na⁺ -coupled SLC4 transporters in health and disease.Molecular diagnosis of distal renal tubular acidosis in Tunisian patients: proposed algorithm for Northern Africa populations for the ATP6V1B1, ATP6V0A4 and SCL4A1 genes.Using the zebrafish lateral line to uncover novel mechanisms of action and prevention in drug-induced hair cell deathAnion exchanger 1b in stereocilia is required for the functioning of mechanotransducer channels in lateral-line hair cells of zebrafish.Discovery of a Small-Molecule Probe for V-ATPase FunctionAcid-Base HomeostasisProximal renal tubular acidosis: a not so rare disorder of multiple etiologiesA single nucleotide polymorphism in kidney anion exchanger 1 gene is associated with incomplete type 1 renal tubular acidosis.PDLIM5 links kidney anion exchanger 1 (kAE1) to ILK and is required for membrane targeting of kAE1.Structure, function, and regulation of the SLC4 NBCe1 transporter and its role in causing proximal renal tubular acidosis.Proximal renal tubular acidosis mediated by mutations in NBCe1-A: unraveling the transporter's structure-functional properties.Everything you need to know about distal renal tubular acidosis in autoimmune diseaseThe importance of the ionic product for water to understand the physiology of the acid-base balance in humans.Metabolic acidosis in renal transplantation: neglected but of potential clinical relevance.Clinical and molecular aspects of distal renal tubular acidosis in children.Tubular and genetic disorders associated with kidney stones.Development and Diseases of the Collecting Duct System.A novel splice-site mutation in ATP6V0A4 gene in two brothers with distal renal tubular acidosis from a consanguineous Tunisian family.Genetic kidney diseases: Caenorhabditis elegans as model system.A novel heterozygous mutation in the ATP6V0A4 gene encoding the V-ATPase a4 subunit in an adult patient with incomplete distal renal tubular acidosis.Carbonic Anhydrase II Deficiency in a Saudi Woman.Asymmetry of inverted-topology repeats in the AE1 anion exchanger suggests an elevator-like mechanism.Molecular mechanisms of cutis laxa and distal renal tubular acidosis-causing mutations in V-ATPase a subunits, ATP6V0A2 and ATP6V0A4.Hearing loss without overt metabolic acidosis in ATP6V1B1 deficient MRL mice, a new genetic model for non-syndromic deafness with enlarged vestibular aqueducts.New Findings on the Pathogenesis of Distal Renal Tubular Acidosis.Refining Diagnostic Approaches in Nephrolithiasis: Incomplete Distal Renal Tubular Acidosis.Metabolic Acidosis or Respiratory Alkalosis? Evaluation of a Low Plasma Bicarbonate Using the Urine Anion Gap.Intercalated Cell Depletion and Vacuolar H+-ATPase Mistargeting in an Ae1 R607H Knockin Model.An in vitro splicing assay reveals the pathogenicity of a novel intronic variant in ATP6V0A4 for autosomal recessive distal renal tubular acidosis.A distal (type 1) renal tubular acidosis case that mimic coronary ischemia.The Urine Anion Gap in Context.Primary distal renal tubular acidosis: novel findings in patients studied by next-generation sequencing.Mutation analysis and audiologic assessment in six Chinese children with primary distal renal tubular acidosis.Complete Hypokalemic Quadriparesis as a First Presentation of Sjögren Syndrome.
P2860
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P2860
Genetic causes and mechanisms of distal renal tubular acidosis.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
2012年學術文章
@zh-hant
name
Genetic causes and mechanisms of distal renal tubular acidosis.
@en
Genetic causes and mechanisms of distal renal tubular acidosis.
@nl
type
label
Genetic causes and mechanisms of distal renal tubular acidosis.
@en
Genetic causes and mechanisms of distal renal tubular acidosis.
@nl
prefLabel
Genetic causes and mechanisms of distal renal tubular acidosis.
@en
Genetic causes and mechanisms of distal renal tubular acidosis.
@nl
P2860
P356
P1476
Genetic causes and mechanisms of distal renal tubular acidosis.
@en
P2093
Daniel Batlle
Syed K Haque
P2860
P304
P356
10.1093/NDT/GFS442
P407
P577
2012-10-01T00:00:00Z