Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene.
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The role of inbreeding in the extinction of a European royal dynastyHuman H+ATPase a4 subunit mutations causing renal tubular acidosis reveal a role for interaction with phosphofructokinase-1Molecular mechanisms and regulation of urinary acidificationMice deficient in H+-ATPase a4 subunit have severe hearing impairment associated with enlarged endolymphatic compartments within the inner ear.A mouse model for distal renal tubular acidosis reveals a previously unrecognized role of the V-ATPase a4 subunit in the proximal tubule.V-ATPase V1 sector is required for corpse clearance and neurotransmission in Caenorhabditis elegansAtp6v0a4 knockout mouse is a model of distal renal tubular acidosis with hearing loss, with additional extrarenal phenotypeSignification of distal urinary acidification defects in hypocitraturic patients.ATP6V1B1 mutations in distal renal tubular acidosis and sensorineural hearing loss: clinical and genetic spectrum of five familiesIncomplete distal renal tubular acidosis from a heterozygous mutation of the V-ATPase B1 subunit.Molecular investigation of distal renal tubular acidosis in Tunisia, evidence for founder mutationsMolecular diagnosis of distal renal tubular acidosis in Tunisian patients: proposed algorithm for Northern Africa populations for the ATP6V1B1, ATP6V0A4 and SCL4A1 genes.Inherited renal acidoses.Importance of early audiologic assessment in distal renal tubular acidosisMutations in ATP6V1B1 and ATP6V0A4 genes cause recessive distal renal tubular acidosis in Mexican families.Regulation of luminal acidification by the V-ATPase.The Function of V-ATPases in CancerTropical distal renal tubular acidosis: clinical and epidemiological studies in 78 patients.The long-term complications of the inherited tubulopathies: an adult perspective.Complicated pregnancies in inherited distal renal tubular acidosis: importance of acid-base balance.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.An expanded syndrome of dRTA with hearing loss, hyperoxaluria and beta2-microglobulinuria.Mutations 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.Endolymphatic sac enlargement in a girl with a novel mutation for distal renal tubular acidosis and severe deafnessPolymorphisms in Renal Ammonia Metabolism Genes Correlate With 24-Hour Urine pH.Hearing loss and renal syndromes.Hearing loss without overt metabolic acidosis in ATP6V1B1 deficient MRL mice, a new genetic model for non-syndromic deafness with enlarged vestibular aqueducts.Medullary sponge kidney associated with primary distal renal tubular acidosis and mutations of the H+-ATPase genes.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.Genetic causes and mechanisms of distal renal tubular acidosis.Val2Ala mutation in the Atp6v0a4 gene causes early-onset sensorineural hearing loss in children with recessive distal renal tubular acidosis: a case report.Homozygous and compound heterozygous mutations in the ATP6V1B1 gene in patients with renal tubular acidosis and sensorineural hearing loss.Novel ATP6V1B1 mutations in distal renal tubular acidosis and hearing loss.Familial autosomal recessive renal tubular acidosis: importance of early diagnosis.
P2860
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P2860
Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene.
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年学术文章
@wuu
2006年学术文章
@zh
2006年学术文章
@zh-cn
2006年学术文章
@zh-hans
2006年学术文章
@zh-my
2006年学术文章
@zh-sg
2006年學術文章
@yue
2006年學術文章
@zh-hant
name
Genetic investigation of autos ...... utations in the ATP6V0A4 gene.
@en
Genetic investigation of autos ...... utations in the ATP6V0A4 gene.
@nl
type
label
Genetic investigation of autos ...... utations in the ATP6V0A4 gene.
@en
Genetic investigation of autos ...... utations in the ATP6V0A4 gene.
@nl
prefLabel
Genetic investigation of autos ...... utations in the ATP6V0A4 gene.
@en
Genetic investigation of autos ...... utations in the ATP6V0A4 gene.
@nl
P2093
P356
P1476
Genetic investigation of autos ...... mutations in the ATP6V0A4 gene
@en
P2093
Anne Fargeot
Chantal Loirat
François Bouissou
François Nobili
Gilles Morin
Gwenaelle Roussey Kesler
Hubert Nivet
Laurence Strompf
Marie-Alice Macher
P304
P356
10.1681/ASN.2005121305
P577
2006-04-12T00:00:00Z