Genetic causes and mechanisms of distal renal tubular acidosis. - Wikidata - awgldk - TriplyDB

Genetic causes and mechanisms of distal renal tubular acidosis.

Genetic causes and mechanisms of distal renal tubular acidosis.

http://www.wikidata.org/entity/Q50358114

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Molecular mechanisms and regulation of urinary acidification The zebrafish merovingian mutant reveals a role for pH regulation in hair cell toxicity and function.Rhabdomyolysis as the first manifestation of human immunodeficiency virus infection Autosomal 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 death Anion 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 Function Acid-Base Homeostasis Proximal renal tubular acidosis: a not so rare disorder of multiple etiologies A 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 disease The 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.

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Genetic causes and mechanisms of distal renal tubular acidosis.

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2012年学术文章

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Genetic causes and mechanisms of distal renal tubular acidosis.

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Genetic causes and mechanisms of distal renal tubular acidosis.

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Genetic causes and mechanisms of distal renal tubular acidosis.

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Genetic causes and mechanisms of distal renal tubular acidosis.

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Genetic causes and mechanisms of distal renal tubular acidosis.

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Genetic causes and mechanisms of distal renal tubular acidosis.

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Nephrology Dialysis Transplantation

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Genetic causes and mechanisms of distal renal tubular acidosis.

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Daniel Batlle

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Syed K Haque

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P2860

Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness

Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing

A novel missense mutation in AE1 causing autosomal dominant distal renal tubular acidosis retains normal transport function but is mistargeted in polarized epithelial cells

Targeted disruption of the murine erythroid band 3 gene results in spherocytosis and severe haemolytic anaemia despite a normal membrane skeleton

Human H+ATPase a4 subunit mutations causing renal tubular acidosis reveal a role for interaction with phosphofructokinase-1

Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss

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

Localization of a gene for autosomal recessive distal renal tubular acidosis with normal hearing (rdRTA2) to 7q33-34

Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene

Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification

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10.1093/NDT/GFS442

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