Life-threatening metabolic alkalosis in Pendred syndrome - Wikidata - awgldk - TriplyDB

Life-threatening metabolic alkalosis in Pendred syndrome

Life-threatening metabolic alkalosis in Pendred syndrome

http://www.wikidata.org/entity/Q35055156

about

It is chloride depletion alkalosis, not contraction alkalosis Thyroid iodide efflux: a team effort?Transcriptional regulation of the pendrin gene.Pendrin function and regulation in Xenopus oocytes Molecular and functional characterization of human pendrin and its allelic variants.The anion exchanger pendrin (SLC26A4) and renal acid-base homeostasis.The importance of the ionic product for water to understand the physiology of the acid-base balance in humans.The multiple roles of pendrin in the kidney.Pendrin overexpression affects cell volume recovery, intracellular pH and chloride concentration after hypotonicity-induced cell swelling.Goiter and hearing impairment: A case of a male patient with Pendred syndrome.Intrafamilial phenotypic variability in families with biallelic SLC26A4 mutations.Pendrin-A New Target for Diuretic Therapy?

P2860

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P2860

Life-threatening metabolic alkalosis in Pendred syndrome

http://www.wikidata.org/entity/Q35055156

description

2011 nî lūn-bûn

@nan

2011 թուականի Մայիսին հրատարակուած գիտական յօդուած

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2011 թվականի մայիսին հրատարակված գիտական հոդված

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2011年の論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年论文

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name

Life-threatening metabolic alkalosis in Pendred syndrome

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Life-threatening metabolic alkalosis in Pendred syndrome

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type

label

Life-threatening metabolic alkalosis in Pendred syndrome

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Life-threatening metabolic alkalosis in Pendred syndrome

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prefLabel

Life-threatening metabolic alkalosis in Pendred syndrome

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Life-threatening metabolic alkalosis in Pendred syndrome

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P1433

European Journal of Endocrinology

P1476

Life-threatening metabolic alkalosis in Pendred syndrome

@en

P2093

Krishna Chatterjee

http://www.w3.org/2001/XMLSchema#string

Laura Fugazzola

http://www.w3.org/2001/XMLSchema#string

Narayanan Kandasamy

http://www.w3.org/2001/XMLSchema#string

P2860

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

Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)

Pendrin, encoded by the Pendred syndrome gene, resides in the apical region of renal intercalated cells and mediates bicarbonate secretion

Pendrin: an apical Cl-/OH-/HCO3- exchanger in the kidney cortex

Metabolic alkalosis.

Profound hypokalemia and hypochloremic metabolic alkalosis during thiazide therapy in a child with Pendred syndrome.

Pendred syndrome in two Galician families: insights into clinical phenotypes through cellular, genetic, and molecular studies.

Pendred syndrome and iodide transport in the thyroid.

The Mondini type of cochlear malformation. A survey of the literature.

Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in Pendred syndrome.

P304

167-170

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scholarly article

P356

10.1530/EJE-11-0101

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1

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165

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2011-05-06T00:00:00Z

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51106548

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21551164

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3118492

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