(Q22008703)

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

9 December 2019

title

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

1 reference

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

ATPase H+ transporting V1 subunit B1

9 December 2019

main subject

1 reference

sensory perception of sound

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

renal tubular acidosis

1 reference

1 reference

1

F E Karet

F E

Karet

1 reference

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9 December 2019

Finberg KE

2

K E

Finberg

1 reference

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9 December 2019

Nelson RD

3

R D

Nelson

1 reference

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9 December 2019

Nayir A

4

A

Nayir

1 reference

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9 December 2019

Mocan H

5

H

Mocan

1 reference

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9 December 2019

Sanjad SA

6

S A

Sanjad

1 reference

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9 December 2019

Rodriguez-Soriano J

7

J

Rodriguez-Soriano

1 reference

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9 December 2019

Santos F

8

F

Santos

1 reference

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9 December 2019

Cremers CW

9

C W

Cremers

1 reference

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9 December 2019

Di Pietro A

10

A

Di Pietro

1 reference

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9 December 2019

Hoffbrand BI

11

B I

Hoffbrand

1 reference

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9 December 2019

Winiarski J

12

J

Winiarski

1 reference

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9 December 2019

Bakkaloglu A

13

A

Bakkaloglu

1 reference

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9 December 2019

Ozen S

14

S

Ozen

1 reference

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9 December 2019

Dusunsel R

15

R

Dusunsel

1 reference

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9 December 2019

Goodyer P

16

P

Goodyer

1 reference

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9 December 2019

Hulton SA

17

S A

Hulton

1 reference

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9 December 2019

Wu DK

18

D K

Wu

1 reference

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9 December 2019

Skvorak AB

19

A B

Skvorak

1 reference

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9 December 2019

Morton CC

20

C C

Morton

1 reference

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9 December 2019

Cunningham MJ

21

M J

Cunningham

1 reference

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9 December 2019

Jha V

22

V

Jha

1 reference

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9 December 2019

Lifton RP

23

R P

Lifton

1 reference

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9 December 2019

language of work or name

English

0 references

publication date

1 January 1999

1 reference

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9 December 2019

1 reference

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9 December 2019

volume

21

1 reference

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9 December 2019

page(s)

84-90

1 reference

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9 December 2019

issue

1

1 reference

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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

1 reference

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

1 reference

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

1 reference

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

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