(Q36844436)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17557941%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

review article

1 reference

title

Inherited renal acidoses (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17557941%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17557941%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

Fiona E Karet

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17557941%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

author name string

Andrew C Fry

series ordinal

1

1 reference

16 August 2017

Fiona E Karet

series ordinal

2

1 reference

16 August 2017

publication date

1 June 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17557941%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17557941%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

volume

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17557941%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

page(s)

202-211

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17557941%20AND%20SRC:MED&resulttype=core&format=json

Molecular physiology of SLC4 anion exchangers

31 December 2019

cites work

1 reference

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Molecular cloning and characterization of a novel form of the human vacuolar H+-ATPase e-subunit: an essential proton pump component

21 January 2018

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Deafness and renal tubular acidosis in mice lacking the K-Cl co-transporter Kcc4.

21 January 2018

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

21 January 2018

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Familial proximal renal tubular acidosis. A distinct clinical entity

21 January 2018

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The B1 subunit of the H+ATPase is a PDZ domain-binding protein. Colocalization with NHE-RF in renal B-intercalated cells

21 January 2018

1 reference

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

21 January 2018

1 reference

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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

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Identification of a critical ankyrin-binding loop on the cytoplasmic domain of erythrocyte membrane band 3 by crystal structure analysis and site-directed mutagenesis

21 January 2018

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Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1

21 January 2018

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

21 January 2018

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Non-polarized targeting of AE1 causes autosomal dominant distal renal tubular acidosis

21 January 2018

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A novel missense mutation in the sodium bicarbonate cotransporter (NBCe1/SLC4A4) causes proximal tubular acidosis and glaucoma through ion transport defects

21 January 2018

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Nephrocalcinosis: another cause of renal erythrocytosis

21 January 2018

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A novel clathrin adaptor complex mediates basolateral targeting in polarized epithelial cells

21 January 2018

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Red cell membrane disorders

21 January 2018

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Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I

21 January 2018

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Functional analysis of NBC1 mutants associated with proximal renal tubular acidosis and ocular abnormalities

21 January 2018

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

21 January 2018

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Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities

21 January 2018

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Unraveling the molecular pathogenesis of isolated proximal renal tubular acidosis

21 January 2018

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Defective anion transport and marked spherocytosis with membrane instability caused by hereditary total deficiency of red cell band 3 in cattle due to a nonsense mutation

21 January 2018

1 reference

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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

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Chloride transport in the kidney: lessons from human disease and knockout mice.

21 January 2018

1 reference

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WNK4 regulates the balance between renal NaCl reabsorption and K+ secretion

21 January 2018

1 reference

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Inherited distal renal tubular acidosis.

21 January 2018

1 reference

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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/10.1152%2FPHYSIOL.00044.2006

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/10.1152%2FPHYSIOL.00044.2006

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/10.1152%2FPHYSIOL.00044.2006

Disease-associated mutations affect intracellular traffic and paracellular Mg2+ transport function of Claudin-16

21 January 2018

1 reference

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Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOL.00044.2006

Missense mutations in Na+:HCO3- cotransporter NBC1 show abnormal trafficking in polarized kidney cells: a basis of proximal renal tubular acidosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOL.00044.2006

Interaction between aldolase and vacuolar H+-ATPase: evidence for direct coupling of glycolysis to the ATP-hydrolyzing proton pump

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOL.00044.2006

Acid-base status determines the renal expression of Ca2+ and Mg2+ transport proteins.

21 January 2018

1 reference

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Salt handling and hypertension.

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOL.00044.2006

Allogeneic stem cell transplantation for the treatment of diseases associated with a deficiency in bone marrow products

21 January 2018

1 reference

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Impaired trafficking of human kidney anion exchanger (kAE1) caused by hetero-oligomer formation with a truncated mutant associated with distal renal tubular acidosis

21 January 2018

1 reference

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The clinical spectrum of renal tubular acidosis

21 January 2018

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Renal tubular acidosis: the clinical entity

21 January 2018

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Expression cloning and characterization of a renal electrogenic Na+/HCO3- cotransporter

21 January 2018

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Renal tubular acidosis: a new look at an old problem

21 January 2018

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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

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Trafficking defect of mutant kidney anion exchanger 1 (kAE1) proteins associated with distal renal tubular acidosis and Southeast Asian ovalocytosis.

21 January 2018

1 reference

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Renal and intestinal absorptive defects in mice lacking the NHE3 Na+/H+ exchanger

21 January 2018

1 reference

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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

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Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption

21 January 2018

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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

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Molecular cloning and characterization of novel tissue-specific isoforms of the human vacuolar H(+)-ATPase C, G and d subunits, and their evaluation in autosomal recessive distal renal tubular acidosis

21 January 2018

1 reference

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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

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Novel compound heterozygous SLC4A1 mutations in Thai patients with autosomal recessive distal renal tubular acidosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOL.00044.2006

Localization and regulation of the ATP6V0A4 (a4) vacuolar H+-ATPase subunit defective in an inherited form of distal renal tubular acidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOL.00044.2006

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/10.1152%2FPHYSIOL.00044.2006

A novel splice-site mutation in the gamma subunit of the epithelial sodium channel gene in three pseudohypoaldosteronism type 1 families

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOL.00044.2006

The a-subunit of the V-type H+-ATPase interacts with phosphofructokinase-1 in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOL.00044.2006

The structure and function of band 3 (AE1): recent developments (review).

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOL.00044.2006

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/10.1152%2FPHYSIOL.00044.2006

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/10.1152%2FPHYSIOL.00044.2006

Band 3 Walton, a C-terminal deletion associated with distal renal tubular acidosis, is expressed in the red cell membrane but retained internally in kidney cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOL.00044.2006

The human NBCe1-A mutant R881C, associated with proximal renal tubular acidosis, retains function but is mistargeted in polarized renal epithelia

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOL.00044.2006

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/10.1152%2FPHYSIOL.00044.2006

Carbonic anhydrase II binds to the carboxyl terminus of human band 3, the erythrocyte C1-/HCO3- exchanger

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOL.00044.2006

Identification of the carbonic anhydrase II binding site in the Cl(-)/HCO(3)(-) anion exchanger AE1

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOL.00044.2006

21 January 2018

Renal vacuolar H+-ATPase

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOL.00044.2006

Partial characterization of the cytoplasmic domain of human kidney band 3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOL.00044.2006

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOL.00044.2006

Human hypertension caused by mutations in WNK kinases

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOL.00044.2006

Autosomal recessive distal renal tubular acidosis caused by G701D mutation of anion exchanger 1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOL.00044.2006

10.1152/PHYSIOL.00044.2006

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17557941%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

1 reference