(Q50358114)

6 March 2018

editorial

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title

Genetic causes and mechanisms of distal renal tubular acidosis. (English)

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6 March 2018

author name string

Daniel Batlle

series ordinal

1

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6 March 2018

Syed K Haque

series ordinal

2

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6 March 2018

language of work or name

English

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publication date

1 October 2012

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6 March 2018

Nephrology Dialysis Transplantation

published in

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6 March 2018

volume

27

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6 March 2018

issue

10

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6 March 2018

page(s)

3691-3704

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6 March 2018

Creative Commons Attribution-NonCommercial 3.0 Unported

copyright license

start time

6 October 2016

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Distal renal tubular acidosis: pathogenesis and classification

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS442

Hereditary distal renal tubular acidosis: new understandings

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS442

Renal tubular acidosis: the clinical entity

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS442

Renal tubular acidosis in infants: the several kinds, including bicarbonate-wasting, classic renal tubular acidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS442

Inherited renal acidoses.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS442

Water excrtion in potassium-deficient man

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS442

Molecular physiology and genetics of Na+-independent SLC4 anion exchangers

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS442

Distal renal tubular acidosis and the potassium enigma

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS442

Amelioration of Metabolic Acidosis with Fludrocortisone Therapy in Hyporeninemic Hypoaldosteronism

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS442

Function and regulation of collecting duct intercalated cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS442

Subtypes of intercalated cells in rat kidney collecting duct defined by antibodies against erythroid band 3 and renal vacuolar H+-ATPase

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS442

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS442

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS442

Band 3 mutations, renal tubular acidosis and South-East Asian ovalocytosis in Malaysia and Papua New Guinea: loss of up to 95% band 3 transport in red cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS442

Novel AE1 mutations in recessive distal renal tubular acidosis. Loss-of-function is rescued by glycophorin A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS442

Trafficking defects of a novel autosomal recessive distal renal tubular acidosis mutant (S773P) of the human kidney anion exchanger (kAE1).

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS442

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.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS442

Hemolytic anemia and distal renal tubular acidosis in two Indian patients homozygous for SLC4A1/AE1 mutation A858D

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS442

Distal renal tubular acidosis and ovalocytosis: a case report

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS442

Compound mutations in human anion exchanger 1 are associated with complete distal renal tubular acidosis and hereditary spherocytosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS442

Band 3 Courcouronnes (Ser667Phe): a trafficking mutant differentially rescued by wild-type band 3 and glycophorin A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS442

Recessive distal renal tubular acidosis in Sarawak caused by AE1 mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS442

Impaired trafficking of distal renal tubular acidosis mutants of the human kidney anion exchanger kAE1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS442

Dominant and recessive distal renal tubular acidosis mutations of kidney anion exchanger 1 induce distinct trafficking defects in MDCK cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS442

Glycophorin A: Band 3 aid.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS442

Regions of human kidney anion exchanger 1 (kAE1) required for basolateral targeting of kAE1 in polarised kidney cells: mis-targeting explains dominant renal tubular acidosis (dRTA).

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS442

A novel missense mutation in AE1 causing autosomal dominant distal renal tubular acidosis retains normal transport function but is mistargeted in polarized epithelial cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS442

Mutation conferring apical-targeting motif on AE1 exchanger causes autosomal dominant distal RTA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS442

Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS442

Adaptation to metabolic acidosis and its recovery are associated with changes in anion exchanger distribution and expression in the cortical collecting duct

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS442

Deletion of hensin/DMBT1 blocks conversion of beta- to alpha-intercalated cells and induces distal renal tubular acidosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS442

Catalysis and inhibition of human carbonic anhydrase IV.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS442

The role of carbonic anhydrases in renal physiology

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS442

Evaluation of carbonic anhydrase isozymes in disorders involving osteopetrosis and/or renal tubular acidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS442

Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype-phenotype correlation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS442

Carbonic anhydrase II (CA II) deficiency in Maghrebian patients: evidence for founder effect and genomic recombination at the CA II locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS442

A splice junction mutation in intron 2 of the carbonic anhydrase II gene of osteopetrosis patients from Arabic countries

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS442

A unique mutation underlying carbonic anhydrase II deficiency syndrome in patients of Arab descent

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS442

Osteopetrosis, renal tubular acidosis and basal ganglia calcification in three sisters

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS442

A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS442

Marble brain disease in two Saudi Arabian siblings.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS442

Nephrocalcinosis and urolithiasis in carbonic anhydrase II deficiency syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS442

Osteoclastic bone resorption by a polarized vacuolar proton pump

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS442

Regulation and isoform function of the V-ATPases

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS442

An extended nomenclature for mammalian V-ATPase subunit genes and splice variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS442

The vacuolar (H+)-ATPases--nature's most versatile proton pumps

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS442

Function of a subunit isoforms of the V-ATPase in pH homeostasis and in vitro invasion of MDA-MB231 human breast cancer cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS442

21 January 2018

Renal vacuolar H+-ATPase

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS442

Localization of a gene for autosomal recessive distal renal tubular acidosis with normal hearing (rdRTA2) to 7q33-34

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS442

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS442

Audiometric and imaging characteristics of distal renal tubular acidosis and deafness.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS442

Novel ATP6V1B1 mutations in distal renal tubular acidosis and hearing loss.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS442

Novel compound heterozygous ATP6V0A4 mutations in an infant with distal renal tubular acidosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS442

Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS442

The vacuolar-ATPase B1 subunit in distal tubular acidosis: novel mutations and mechanisms for dysfunction.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS442

Human H+ATPase a4 subunit mutations causing renal tubular acidosis reveal a role for interaction with phosphofructokinase-1

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS442

Vacuolar H+ -ATPase B1 subunit mutations that cause inherited distal renal tubular acidosis affect proton pump assembly and trafficking in inner medullary collecting duct cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS442

Medullary sponge kidney associated with primary distal renal tubular acidosis and mutations of the H+-ATPase genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS442

Targeted disruption of the murine erythroid band 3 gene results in spherocytosis and severe haemolytic anaemia despite a normal membrane skeleton

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS442

The B1-subunit of the H(+) ATPase is required for maximal urinary acidification

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS442

N-ethyl-N-nitrosourea-induced null mutation at the mouse Car-2 locus: an animal model for human carbonic anhydrase II deficiency syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS442

Functional significance of channels and transporters expressed in the inner ear and kidney

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS442

Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS442

Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS442

Dosage of potassium citrate in the correction of urinary abnormalities in pediatric distal renal tubular acidosis patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS442

21 January 2018

Identifiers

DOI

10.1093/NDT/GFS442

1 reference

6 March 2018

1 reference

6 March 2018