SeSAME/EAST syndrome--phenotypic variability and delayed activity of the distal convoluted tubule (Q50429340)

13 March 2018

title

SeSAME/EAST syndrome--phenotypic variability and delayed activity of the distal convoluted tubule (English)

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13 March 2018

author name string

Ute I Scholl

1

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13 March 2018

Haatal B Dave

2

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13 March 2018

Ming Lu

3

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13 March 2018

Anita Farhi

4

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13 March 2018

Carol Nelson-Williams

5

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13 March 2018

James A Listman

6

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13 March 2018

Richard P Lifton

7

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13 March 2018

publication date

21 August 2012

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13 March 2018

published in

Pediatric Nephrology

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13 March 2018

volume

27

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13 March 2018

issue

11

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13 March 2018

page(s)

2081-2090

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13 March 2018

Maturational changes in renal tubular transport

cites work

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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

21 January 2018

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Bartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects

21 January 2018

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Salt handling in the distal nephron: lessons learned from inherited human disorders.

21 January 2018

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Early appearance of hypokalemia in Gitelman syndrome

21 January 2018

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Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10.

21 January 2018

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https://api.crossref.org/works/10.1007/S00467-012-2219-4

Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations

21 January 2018

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https://api.crossref.org/works/10.1007/S00467-012-2219-4

KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function

21 January 2018

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https://api.crossref.org/works/10.1007/S00467-012-2219-4

Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome

21 January 2018

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The salt-wasting phenotype of EAST syndrome, a disease with multifaceted symptoms linked to the KCNJ10 K channel

21 January 2018

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Crystal Structure of the Eukaryotic Strong Inward-Rectifier K Channel Kir2.2 at 3.1 A Resolution

21 January 2018

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De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy

21 January 2018

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Conditional knock-out of Kir4.1 leads to glial membrane depolarization, inhibition of potassium and glutamate uptake, and enhanced short-term synaptic potentiation

21 January 2018

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Functional implications for Kir4.1 channels in glial biology: from K buffering to cell differentiation

21 January 2018

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The EAST syndrome and KCNJ10 mutations

21 January 2018

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Mutations in the chloride channel gene, CLCNKB, leading to a mixed Bartter-Gitelman phenotype

21 January 2018

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

21 January 2018

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12 December 2020

Diffusion-weighted imaging of acute excitotoxic brain injury.

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12 December 2020

Wnk4 controls blood pressure and potassium homeostasis via regulation of mass and activity of the distal convoluted tubule

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12 December 2020

Mutations in the Na-Cl cotransporter reduce blood pressure in humans

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12 December 2020

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

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12 December 2020

KCNJ10 mutations disrupt function in patients with EAST syndrome

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12 December 2020

Phenotype resembling Gitelman's syndrome in mice lacking the apical Na -Cl- cotransporter of the distal convoluted tubule

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12 December 2020

Furosemide promotes patent ductus arteriosus in premature infants with the respiratory-distress syndrome

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12 December 2020

Immunolocalization of an inwardly rectifying K channel, K(AB)-2 (Kir4.1), in the basolateral membrane of renal distal tubular epithelia

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A new familial disorder characterized by hypokalemia and hypomagnesemia

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10.1007/S00467-012-2219-4

Identifiers

DOI

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13 March 2018

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13 March 2018