Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III (Q24317311)

GOA release 2020-03-11

excretion

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GOA release 2020-03-11

author name string

D B Simon

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R S Bindra

2

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T A Mansfield

3

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C Nelson-Williams

4

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E Mendonca

5

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R Stone

6

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S Schurman

7

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A Nayir

8

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H Alpay

9

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A Bakkaloglu

10

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J Rodriguez-Soriano

11

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J M Morales

12

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S A Sanjad

13

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C M Taylor

14

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D Pilz

15

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A Brem

16

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H Trachtman

17

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W Griswold

18

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G A Richard

19

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E John

20

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R P Lifton

https://scigraph.springernature.com/pub.10.1038/ng1097-171

21

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language of work or name

English

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publication date

October 1997

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published in

Nature Genetics

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volume

17

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page(s)

171-8

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issue

2

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exact match

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cites work

Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2

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Assignment of the genes encoding the human chloride channels, CLCNKA and CLCNKB, to 1p36 and of CLCN3 to 4q32-q33 by in situ hybridization

20 April 2017

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Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter

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Liddle's syndrome: heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel

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Hypertension caused by a truncated epithelial sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome

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Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1

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Use of calcium excretion values to distinguish two forms of primary renal tubular hypokalemic alkalosis: Bartter and Gitelman syndromes

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Hypercalciuric Bartter syndrome: resolution of nephrocalcinosis with indomethacin

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Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK

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Sodium and potassium ion pump in kidney tubules

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Two highly homologous members of the ClC chloride channel family in both rat and human kidney

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Chloride channels: an emerging molecular picture

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Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

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Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children

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Properties of the basolateral membrane of the cortical thick ascending limb of Henle's loop of rabbit kidney. A model for secondary active chloride transport

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The chromosomal arrangement of human alpha-like globin genes: sequence homology and alpha-globin gene deletions.

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Polymorphic DNA region adjacent to the 5' end of the human insulin gene

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Evidence for a prostaglandin-independent defect in chloride reabsorption in the loop of henle as a proximal cause of Bartter's syndrome

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7 January 2021