Localization of a gene for autosomal recessive distal renal tubular acidosis with normal hearing (rdRTA2) to 7q33-34
about
V1 and V0 domains of the human H+-ATPase are linked by an interaction between the G and a subunitsNovel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing lossMolecular mechanisms and regulation of urinary acidificationCollecting duct intercalated cell function and regulationDistal renal tubular acidosis with severe hypokalaemia, probably caused by colonic H(+)-K(+)-ATPase deficiencyMolecular cloning and characterization of Atp6n1b: a novel fourth murine vacuolar H+-ATPase a-subunit geneThe vacuolar-ATPase complex and assembly factors, TMEM199 and CCDC115, control HIF1α prolyl hydroxylation by regulating cellular iron levels.Autosomal dominant distal renal tubular acidosis caused by a mutation in the anion exchanger 1 gene in a Japanese family.Renal vacuolar H+-ATPase.Renal tubular acidosis: a new look at an old problem.Regulation of transport in the connecting tubule and cortical collecting ductInherited renal acidoses.Mutations in ATP6V1B1 and ATP6V0A4 genes cause recessive distal renal tubular acidosis in Mexican families.The calcium-sensing receptor promotes urinary acidification to prevent nephrolithiasisA single nucleotide polymorphism in kidney anion exchanger 1 gene is associated with incomplete type 1 renal tubular acidosis.Bicaudal-C spatially controls translation of vertebrate maternal mRNAs.Genetic determinants of urolithiasis.Tropical distal renal tubular acidosis: clinical and epidemiological studies in 78 patients.Renal acid-base regulation: new insights from animal models.Disorders of lysosomal acidification-The emerging role of v-ATPase in aging and neurodegenerative disease.Acidosis and Urinary Calcium Excretion: Insights from Genetic Disorders.Functional coupling of V-ATPase and CLC-5.Tetracycline-inducible gene expression in cultured rat renal CD cells and in intact CD from transgenic mice.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.Proteomic changes in response to crystal formation in Drosophila Malpighian tubules.Band 3Tambaú: a de novo mutation in the AE1 gene associated with hereditary spherocytosis. Implications for anion exchange and insertion into the red blood cell membrane.Pathophysiology, diagnosis and treatment of inherited distal renal tubular acidosis.Investigation of ATP6V1B1 and ATP6V0A4 genes causing hereditary hearing loss associated with distal renal tubular acidosis in Iranian families.Genetic causes and mechanisms of distal renal tubular acidosis.
P2860
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P2860
Localization of a gene for autosomal recessive distal renal tubular acidosis with normal hearing (rdRTA2) to 7q33-34
description
1999 nî lūn-bûn
@nan
1999 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Localization of a gene for aut ...... al hearing (rdRTA2) to 7q33-34
@ast
Localization of a gene for aut ...... al hearing (rdRTA2) to 7q33-34
@en
Localization of a gene for aut ...... al hearing (rdRTA2) to 7q33-34
@en-gb
Localization of a gene for aut ...... al hearing (rdRTA2) to 7q33-34
@nl
type
label
Localization of a gene for aut ...... al hearing (rdRTA2) to 7q33-34
@ast
Localization of a gene for aut ...... al hearing (rdRTA2) to 7q33-34
@en
Localization of a gene for aut ...... al hearing (rdRTA2) to 7q33-34
@en-gb
Localization of a gene for aut ...... al hearing (rdRTA2) to 7q33-34
@nl
prefLabel
Localization of a gene for aut ...... al hearing (rdRTA2) to 7q33-34
@ast
Localization of a gene for aut ...... al hearing (rdRTA2) to 7q33-34
@en
Localization of a gene for aut ...... al hearing (rdRTA2) to 7q33-34
@en-gb
Localization of a gene for aut ...... al hearing (rdRTA2) to 7q33-34
@nl
P2093
P2860
P3181
P356
P1476
Localization of a gene for aut ...... al hearing (rdRTA2) to 7q33-34
@en
P2093
A Bakkaloglu
E A Al-Sabban
J F Medina
K E Finberg
R P Lifton
S A Hulton
S A Sanjad
P2860
P304
P3181
P356
10.1086/302679
P407
P577
1999-12-01T00:00:00Z