(Q48749168)

15 February 2018

title

Cation transport activity of anion exchanger 1 mutations found in inherited distal renal tubular acidosis. (English)

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15 February 2018

author

Franck Borgese

2

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15 February 2018

author name string

Stephen Walsh

1

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15 February 2018

Nicole Gabillat

3

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15 February 2018

Robert Unwin

4

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15 February 2018

Helene Guizouarn

5

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15 February 2018

publication date

4 June 2008

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15 February 2018

American Journal of Physiology - Renal Physiology

published in

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15 February 2018

volume

295

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15 February 2018

issue

2

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15 February 2018

page(s)

F343-50

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15 February 2018

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

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Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1

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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

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

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Expression and interaction of two compound heterozygous distal renal tubular acidosis mutants of kidney anion exchanger 1 in epithelial cells

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Transporters as channels.

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Point mutations involved in red cell stomatocytosis convert the electroneutral anion exchanger 1 to a nonselective cation conductance.

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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.

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Distal renal tubular acidosis associated with anion exchanger 1 mutations in children in Thailand.

21 January 2018

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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

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

21 January 2018

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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

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Anion exchanger 1 mutations associated with distal renal tubular acidosis in the Thai population

21 January 2018

1 reference

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10.1152/AJPRENAL.00587.2007

21 January 2018

Identifiers

DOI

1 reference

15 February 2018

PubMed ID

18524859

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15 February 2018