(Q24305531)

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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

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scholarly article

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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 (English)

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Solute carrier family 4 member 1 (Diego blood group)

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GOA release 2020-03-11

distal renal tubular acidosis

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based on heuristic

inferred from title

renal tubular acidosis

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based on heuristic

inferred from title

object named as

Fiona E Karet

8

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object named as

Frank Reimann

4

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author name string

Nanyawan Rungroj

1

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Mark A J Devonald

2

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Alan W Cuthbert

3

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Varaporn Akkarapatumwong

5

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Pa-Thai Yenchitsomanus

6

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William M Bennett

7

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language of work or name

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publication date

2 April 2004

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Journal of Biological Chemistry

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279

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14

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13833-8

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New insights into the pathogenesis of renal tubular acidosis--from functional to molecular studies

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M400188200

21 January 2018

Hereditary distal renal tubular acidosis: new understandings

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M400188200

21 January 2018

Inherited distal renal tubular acidosis.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M400188200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M400188200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M400188200

21 January 2018

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

https://api.crossref.org/works/10.1074%2FJBC.M400188200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M400188200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M400188200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M400188200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M400188200

21 January 2018

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.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M400188200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M400188200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M400188200

21 January 2018

Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M400188200

21 January 2018

Effects of primer-template mismatches on the polymerase chain reaction: human immunodeficiency virus type 1 model studies

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M400188200

21 January 2018

Bicarbonate and chloride secretion in Calu-3 human airway epithelial cells

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M400188200

21 January 2018

Inhibitory interactions between two inward rectifier K+ channel subunits mediated by the transmembrane domains.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M400188200

21 January 2018

Comparison of the osmolyte transport properties induced by trAE1 versus IClswell in Xenopus oocytes

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M400188200

21 January 2018

Structural aspects of the red cell anion exchange protein

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M400188200

21 January 2018

Novel topology in C-terminal region of the human plasma membrane anion exchanger, AE1.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M400188200

21 January 2018

Genetic diseases of acid-base transporters

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M400188200

21 January 2018

A novel cellular phenotype for familial hypercholesterolemia due to a defect in polarized targeting of LDL receptor

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M400188200

21 January 2018

Atypical distal renal tubular acidosis confirmed by mutation analysis

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M400188200

7 January 2021

based on heuristic

inferred from DOI database lookup

A de novo R589C mutation of anion exchanger 1 causing distal renal tubular acidosis

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M400188200

7 January 2021

based on heuristic

inferred from DOI database lookup

The acid test for band 3

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M400188200

7 January 2021

based on heuristic

inferred from DOI database lookup

Autosomal recessive distal renal tubular acidosis associated with Southeast Asian ovalocytosis

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M400188200

7 January 2021

based on heuristic

inferred from DOI database lookup

A role for the beta-subunit in the expression of functional Na+-K+-ATPase in Xenopus oocytes

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M400188200

7 January 2021

based on heuristic

inferred from DOI database lookup

A novel mutation in the anion exchanger 1 gene is associated with familial distal renal tubular acidosis and nephrocalcinosis

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M400188200

7 January 2021

based on heuristic

inferred from DOI database lookup

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10.1074/JBC.M400188200

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