(Q42853667)

8 November 2017

title

A novel SLC4A1 variant in an autosomal dominant distal renal tubular acidosis family with a severe phenotype (English)

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distal renal tubular acidosis

8 November 2017

main subject

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inferred from title

renal tubular acidosis

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Leping Shao

1

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8 November 2017

Yan Xu

2

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8 November 2017

Qian Dong

3

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8 November 2017

Yanhua Lang

4

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8 November 2017

Shaoheng Yue

5

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8 November 2017

Zhimin Miao

6

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8 November 2017

publication date

17 April 2010

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8 November 2017

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8 November 2017

volume

37

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8 November 2017

issue

3

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8 November 2017

page(s)

473-478

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https://scigraph.springernature.com/pub.10.1007/s12020-010-9340-6

8 November 2017

exact match

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cites work

Effects of citrate on the different phases of calcium oxalate crystallization

1 reference

12 December 2020

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

12 December 2020

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

1 reference

12 December 2020

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

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12 December 2020

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

12 December 2020

Cloning and characterization of band 3, the human erythrocyte anion-exchange protein (AE1)

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12 December 2020

Distal renal tubular acidosis in Filipino children, caused by mutations of the anion-exchanger SLC4A1 (AE1, Band 3) gene

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12 December 2020

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

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12 December 2020

Effect of metabolic acidosis on the expression of insulin-like growth factor and growth hormone receptor

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12 December 2020

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

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12 December 2020

Metabolic acidosis inhibits growth hormone secretion in rats: mechanism of growth retardation

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12 December 2020

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

1 reference

12 December 2020

Localization of the gene for the erythroid anion exchange protein, band 3 (EMPB3), to human chromosome 17.

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12 December 2020

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

1 reference

12 December 2020

Hereditary spherocytosis due to a novel frameshift mutation in AE1 cytoplasmic COOH terminal tail: band 3 Vesuvio

1 reference

12 December 2020

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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12 December 2020

Prevention of recurrent calcium stone formation with potassium citrate therapy in patients with distal renal tubular acidosis

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Inherited distal renal tubular acidosis.

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12 December 2020

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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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Potassium citrate/citric acid intake improves renal function in rats with polycystic kidney disease

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Autosomal recessive distal renal tubular acidosis associated with Southeast Asian ovalocytosis

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12 December 2020

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

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12 December 2020

10.1007/S12020-010-9340-6

Identifiers

DOI

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Dimensions Publication ID

8 November 2017

1036527412

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