(Q47761284)

5 February 2018

title

Mutational and functional analysis of SLC4A4 in a patient with proximal renal tubular acidosis (English)

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5 February 2018

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Jun Inatomi

1

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5 February 2018

Shoko Horita

2

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5 February 2018

Nancy Braverman

3

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5 February 2018

Takashi Sekine

4

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5 February 2018

Hideomi Yamada

5

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5 February 2018

Yoshiro Suzuki

6

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5 February 2018

Katsumasa Kawahara

7

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5 February 2018

Nobuo Moriyama

8

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5 February 2018

Akihiko Kudo

9

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5 February 2018

Hayato Kawakami

10

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5 February 2018

Mitsunobu Shimadzu

11

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5 February 2018

Hitoshi Endou

12

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5 February 2018

Toshiro Fujita

13

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5 February 2018

George Seki

14

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5 February 2018

Takashi Igarashi

15

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5 February 2018

publication date

14 April 2004

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5 February 2018

published in

Pfluegers Archiv

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5 February 2018

volume

448

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5 February 2018

issue

4

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5 February 2018

page(s)

438-444

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5 February 2018

https://scigraph.springernature.com/pub.10.1007/s00424-004-1278-1

exact match

0 references

cites work

Cell pH and transepithelial H/HCO3 transport in the renal proximal tubule

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Persistent isolated proximal renal tubular acidosis--a systemic disease with a distinct clinical entity.

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Localization of Na+-HCO-3 cotransporter (NBC-1) variants in rat and human pancreas

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Proximal renal tubular acidosis. A defect in bicarbonate reabsorption with normal urinary acidification

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Impaired chloride secretion, as well as bicarbonate secretion, underlies the fluid secretory defect in the cystic fibrosis pancreas

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An electrogenic Na(+)-HCO(-)(3) cotransporter (NBC) with a novel COOH-terminus, cloned from rat brain

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12 December 2020

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

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12 December 2020

Familial proximal renal tubular acidosis. A distinct clinical entity

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12 December 2020

Localization of NBC-1 variants in human kidney and renal cell carcinoma

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12 December 2020

Acid and mineral balances and bone in familial proximal renal tubular acidosis

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12 December 2020

The renal Na-HCO3-cotransporter expressed in Xenopus laevis oocytes: inhibition by tenidap and benzamil and effect of temperature on transport rate and stoichiometry

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12 December 2020

A case report and review of band keratopathy.

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12 December 2020

Pancreatic acinar cell dysfunction in CFTR(-/-) mice is associated with impairments in luminal pH and endocytosis

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12 December 2020

Structural organization of the human NBC1 gene: kNBC1 is transcribed from an alternative promoter in intron 3.

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12 December 2020

Immunolocalization of the electrogenic Na+-HCO-3 cotransporter in mammalian and amphibian kidney.

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12 December 2020

Renal tubular acidosis in infants and children. Clinical course, response to treatment, and prognosis

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12 December 2020

Stoichiometry of the rat kidney Na+-HCO3- cotransporter expressed in Xenopus laevis oocytes.

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12 December 2020

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

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12 December 2020

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

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12 December 2020

Physiologic and molecular aspects of the Na+:HCO3- cotransporter in health and disease processes

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12 December 2020

Physiologic and molecular aspects of the Na+/H+ exchangers in health and disease processes.

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12 December 2020

Unraveling the molecular pathogenesis of isolated proximal renal tubular acidosis

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12 December 2020

Molecular cloning, chromosomal localization, tissue distribution, and functional expression of the human pancreatic sodium bicarbonate cotransporter

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12 December 2020

Cloning and characterization of a human electrogenic Na+-HCO-3 cotransporter isoform (hhNBC)

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12 December 2020

Electrogenic Na+/HCO3- cotransporters: cloning and physiology

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12 December 2020

Molecular basis of ocular abnormalities associated with proximal renal tubular acidosis

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12 December 2020

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

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12 December 2020

Novel nonsense mutation in the Na+/HCO3- cotransporter gene (SLC4A4) in a patient with permanent isolated proximal renal tubular acidosis and bilateral glaucoma.

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12 December 2020

Functional and molecular evidence for Na(+)-HCO3- cotransporter in human corneal endothelial cells

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12 December 2020

A case of bicarbonate-losing renal tubular acidosis with defective carboanhydrase activity

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12 December 2020

Bicarbonate reabsorption and hydrogen ionexcretion in children with renal tubular acidosis

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12 December 2020

Cloning and functional expression of a human kidney Na+:HCO3- cotransporter

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12 December 2020

10.1007/S00424-004-1278-1

Identifiers

DOI

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5 February 2018

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5 February 2018