Compound mutations in human anion exchanger 1 are associated with complete distal renal tubular acidosis and hereditary spherocytosis (Q39821916)

14 September 2017

title

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

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distal renal tubular acidosis

14 September 2017

main subject

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inferred from title

renal tubular acidosis

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Yu-Hsiang Chang

1

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14 September 2017

Chen-Fu Shaw

2

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14 September 2017

Shu-Huei Jian

3

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14 September 2017

Kai-Hsien Hsieh

4

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14 September 2017

Yee-Hsuan Chiou

5

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14 September 2017

Pei-Jung Lu

6

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14 September 2017

language of work or name

English

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publication date

22 July 2009

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14 September 2017

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14 September 2017

volume

76

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14 September 2017

issue

7

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14 September 2017

page(s)

774-783

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Red blood cell membrane disorders

14 September 2017

cites work

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Genetic diseases of acid-base transporters

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7 January 2021

Inherited distal renal tubular acidosis.

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7 January 2021

Renal epithelial traffic jams and one-way streets

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7 January 2021

Defects in processing and trafficking of the AE1 Cl-/HCO3- exchanger associated with inherited distal renal tubular acidosis

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Autosomal recessive distal renal tubular acidosis associated with Southeast Asian ovalocytosis

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

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7 January 2021

Band 3 Cape Town (E90K) causes severe hereditary spherocytosis in combination with band 3 Prague III.

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7 January 2021

Duplication of 10 nucleotides in the erythroid band 3 (AE1) gene in a kindred with hereditary spherocytosis and band 3 protein deficiency (band 3PRAGUE).

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7 January 2021

Novel band 3 variants (bands 3 Foggia, Napoli I and Napoli II) associated with hereditary spherocytosis and band 3 deficiency: status of the D38A polymorphism within the EPB3 locus

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7 January 2021

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

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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.

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7 January 2021

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

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7 January 2021

Unraveling trafficking of the kidney anion exchanger 1 in polarized MDCK epithelial cells

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7 January 2021

Incomplete distal renal tubular acidosis coinherited with a mutation in the band 3 (AE1) gene

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7 January 2021

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

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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

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7 January 2021

Anion exchanger 1 (band 3) is required to prevent erythrocyte membrane surface loss but not to form the membrane skeleton

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7 January 2021

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

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7 January 2021

Distal renal tubular acidosis in mice lacking the AE1 (band3) Cl-/HCO3- exchanger (slc4a1)

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7 January 2021

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).

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7 January 2021

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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7 January 2021

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

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7 January 2021

Shisa promotes head formation through the inhibition of receptor protein maturation for the caudalizing factors, Wnt and FGF.

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7 January 2021

Polarisation, key to good localisation

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7 January 2021

Trafficking defects of the Southeast Asian ovalocytosis deletion mutant of anion exchanger 1 membrane proteins

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7 January 2021

ER quality control: the cytoplasmic connection

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7 January 2021

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7 January 2021

The proteasome is involved in the degradation of different aquaporin-2 mutants causing nephrogenic diabetes insipidus

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7 January 2021

Membrane topology and insertion of membrane proteins: search for topogenic signals

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7 January 2021

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

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https://api.crossref.org/works/10.1038%2FKI.2009.258

7 January 2021

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

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7 January 2021

Function of WW domains as phosphoserine- or phosphothreonine-binding modules

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7 January 2021

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7 January 2021

The prolyl isomerase Pin1 restores the function of Alzheimer-associated phosphorylated tau protein

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7 January 2021

Critical role of WW domain phosphorylation in regulating phosphoserine binding activity and Pin1 function

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7 January 2021

The prolyl isomerase Pin1 regulates amyloid precursor protein processing and amyloid-beta production

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7 January 2021

FLJ10540-elicited cell transformation is through the activation of PI3-kinase/AKT pathway

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7 January 2021

A comparative quantitative analysis of laminin-5 in the basement membrane of normal, hyperplastic, and malignant oral mucosa by confocal immunofluorescence imaging

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7 January 2021

Identifiers

DOI

10.1038/KI.2009.258

1 reference

14 September 2017

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