Molecular 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

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Molecular 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 is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1111/J.1399-0004.2006.00559.X
P698PubMed publication ID16433694

P2093author name stringM Feldman
A Elia
A Pierides
M Prikis
C C Deltas
Y Athanasiou
P2860cites workMutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafnessQ22008703
Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearingQ24290187
Localization and regulation of the ATP6V0A4 (a4) vacuolar H+-ATPase subunit defective in an inherited form of distal renal tubular acidosisQ24300618
Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing lossQ24315649
Localization of a gene for autosomal recessive distal renal tubular acidosis with normal hearing (rdRTA2) to 7q33-34Q24534382
Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) geneQ24561520
Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosisQ24647772
A simple salting out procedure for extracting DNA from human nucleated cellsQ27861086
Genetic diseases of acid-base transportersQ28217352
Carbonic anhydrase II deficiency in 12 families with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcificationQ28307228
Hereditary distal renal tubular acidosis: new understandingsQ34132029
Inherited distal renal tubular acidosis.Q34758982
Distal renal tubular acidosisQ35691281
Defective kidney anion-exchanger 1 (AE1, Band 3) trafficking in dominant distal renal tubular acidosis (dRTA).Q36008575
Bilateral spontaneous steinstrasse and nephrocalcinosi associated with distal renal tubular acidosis.Q39492113
Siblings with congenital renal tubular acidosis and nerve deafness.Q41321436
Bone histology and bone mineral density after correction of acidosis in distal renal tubular acidosisQ44213036
Novel compound heterozygous SLC4A1 mutations in Thai patients with autosomal recessive distal renal tubular acidosis.Q47307811
Confirmation of the ATP6B1 gene as responsible for distal renal tubular acidosis.Q50484806
ATP6B1 gene mutations associated with distal renal tubular acidosis and deafness in a child.Q50485261
Long-term follow-up in distal renal tubular acidosis with sensorineural deafness.Q50493654
Steinstrasse due to distal renal tubular acidosis with sensorineural deafness.Q50495305
Familial distal renal tubular acidosis with neurosensory deafness: early nephrocalcinosis.Q50560828
Dehydration and acidosis with calcification at renal tubulesQ60608942
The syndrome of renal tubular acidosis with nerve deafnessQ67437201
The development of steinstrassen after ESWL: frequency, natural history, and radiologic managementQ68099812
Familial infantile renal tubular acidosis and congenital nerve deafness: an autosomal recessive syndromeQ69630268
Siblings with renal tubular acidosis and nerve deafness. The first family in JapanQ70475325
Spontaneous steinstrasse due to renal tubular acidosisQ71456987
P433issue2
P407language of work or nameEnglishQ1860
P921main subjectdeafnessQ12133
ossificationQ1121544
renal tubular acidosisQ1516211
distal renal tubular acidosisQ2896802
ATPase H+ transporting V1 subunit B1Q21124712
P304page(s)135-44
P577publication date2006-02-01
P1433published inClinical GeneticsQ5133760
P1476titleMolecular 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
P478volume69

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cites work (P2860)
Q38911591Acidosis and Urinary Calcium Excretion: Insights from Genetic Disorders
Q56761595Clinical and genetic analysis of distal renal tubular acidosis in three Chinese children
Q88564133Distal renal tubular acidosis. Clinical manifestations in patients with different underlying gene mutations
Q42322736Endolymphatic sac enlargement in a girl with a novel mutation for distal renal tubular acidosis and severe deafness
Q50430940Homozygous and compound heterozygous mutations in the ATP6V1B1 gene in patients with renal tubular acidosis and sensorineural hearing loss.
Q36902993Mutations in ATP6V1B1 and ATP6V0A4 genes cause recessive distal renal tubular acidosis in Mexican families
Q49561626Targeted Deletion of the Ncoa7 Gene Results in Incomplete Distal Renal Tubular Acidosis in Mice
Q52585950The vacuolar-ATPase B1 subunit in distal tubular acidosis: novel mutations and mechanisms for dysfunction.
Q37879992Why is hypercalciuria absent at diagnosis in some children with ATP6V1B1 mutation?

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