Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness (Q22008703)

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9 December 2019

title

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

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ATPase H+ transporting V1 subunit B1

9 December 2019

main subject

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sensory perception of sound

GOA release 2020-03-11

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GOA release 2020-03-11

renal tubular acidosis

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1 reference

1

F E Karet

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Karet

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Finberg KE

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Finberg

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Nelson RD

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Nelson

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Nayir A

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Nayir

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Mocan H

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Mocan

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Sanjad SA

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Sanjad

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Rodriguez-Soriano J

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Santos F

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Santos

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Cremers CW

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Cremers

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Di Pietro A

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Hoffbrand BI

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Hoffbrand

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Winiarski J

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Winiarski

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Bakkaloglu A

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Bakkaloglu

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Ozen S

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Dusunsel R

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Goodyer P

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Hulton SA

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Hulton

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Wu DK

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Wu

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Skvorak AB

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Skvorak

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Morton CC

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Cunningham MJ

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Cunningham

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Jha V

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Lifton RP

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Lifton

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9 December 2019

language of work or name

English

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publication date

1 January 1999

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9 December 2019

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9 December 2019

volume

21

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issue

1

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9 December 2019

page(s)

84-90

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Clinical and pathophysiologic spectrum of acquired distal renal tubular acidosis

9 December 2019

cites work

1 reference

7 January 2021

British Paediatric Association: Proceedings of the Eighth Annual General Meeting

1 reference

7 January 2021

Dehydration and acidosis with calcification at renal tubules

1 reference

7 January 2021

The syndrome of renal tubular acidosis with nerve deafness

1 reference

7 January 2021

Progressive sensorineural hearing loss in association with distal renal tubular acidosis

1 reference

7 January 2021

Hearing impairment in association with distal renal tubular acidosis among Saudi children.

1 reference

7 January 2021

Measurement of the pH of the endolymph in the cochlea of guinea pigs

1 reference

7 January 2021

Stria vascularis as source of endocochlear potential

1 reference

7 January 2021

Production and role of inner ear fluid

1 reference

7 January 2021

Renal tubular acidosis. A family with an autosomal dominant genetic defect in renal hydrogen ion transport, with proximal tubular and collecting duct dysfunction and increased metabolism of citrate and ammonia

1 reference

7 January 2021

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

1 reference

7 January 2021

Autosomal dominant distal renal tubular acidosis is associated in three families with heterozygosity for the R589H mutation in the AE1 (band 3) Cl-/HCO3- exchanger.

1 reference

7 January 2021

Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis

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7 January 2021

Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children

1 reference

7 January 2021

Selectively amplified expression of an isoform of the vacuolar H(+)-ATPase 56-kilodalton subunit in renal intercalated cells

1 reference

7 January 2021

Structure, function and regulation of the vacuolar (H+)-ATPase

1 reference

7 January 2021

The ATP synthase--a splendid molecular machine

1 reference

7 January 2021

Human endomembrane H+ pump strongly resembles the ATP-synthetase of Archaebacteria

1 reference

7 January 2021

Coupling of phosphorylation to electron and hydrogen transfer by a chemi-osmotic type of mechanism

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7 January 2021

Heterogeneity of vacuolar H(+)-ATPase: differential expression of two human subunit B isoforms

1 reference

7 January 2021

Structure at 2.8 A resolution of F1-ATPase from bovine heart mitochondria

1 reference

7 January 2021

Underlying defects in distal renal tubular acidosis: new understandings

1 reference

7 January 2021

Localization of pH regulating proteins H+ATPase and Cl-/HCO3- exchanger in the guinea pig inner ear.

1 reference

7 January 2021

Mechanically induced length changes of isolated outer hair cells are metabolically dependent

1 reference

7 January 2021

Renal tubular acidosis and sensorineural deafness: an autosomal recessive syndrome

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7 January 2021

Polymorphic DNA region adjacent to the 5' end of the human insulin gene

1 reference

7 January 2021

Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27.

1 reference

7 January 2021

Thermal asymmetric interlaced PCR: automatable amplification and sequencing of insert end fragments from P1 and YAC clones for chromosome walking

1 reference

7 January 2021

Liddle's syndrome: heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel

1 reference

7 January 2021

Prediction of protein secondary structure at better than 70% accuracy

1 reference

7 January 2021

Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening

1 reference

7 January 2021

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

1 reference

7 January 2021

Unconventional myosins in inner-ear sensory epithelia

1 reference

7 January 2021

Identifiers

DOI

10.1038/5022

2 references

Consolidated OpenCitations Corpus – April 2017

285079

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9916796%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

9 December 2019

1024933828

0 references

285079

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

2 references

285079

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