(Q35055156)

6 August 2017

title

Life-threatening metabolic alkalosis in Pendred syndrome (English)

1 reference

6 August 2017

1 reference

Fiona Karet

5

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Mark L. Evans

object named as

Mark Evans

3

0 references

author name string

Narayanan Kandasamy

1

1 reference

6 August 2017

Laura Fugazzola

2

1 reference

6 August 2017

Krishna Chatterjee

4

1 reference

6 August 2017

publication date

6 May 2011

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European Journal of Endocrinology

6 August 2017

published in

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6 August 2017

volume

165

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6 August 2017

issue

1

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6 August 2017

page(s)

167-170

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Pendred syndrome and iodide transport in the thyroid

6 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118492

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118492

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118492

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118492

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118492

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118492

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118492

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118492

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118492

The Mondini Type of Cochlear Malformation: A Survey of the Literature

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118492

Reduced ENaC protein abundance contributes to the lower blood pressure observed in pendrin-null mice.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118492

Mutations in the PDS gene in German families with Pendred's syndrome: V138F is a founder mutation

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118492

Concurrence of Pendred syndrome, autoimmune thyroiditis, and simple goiter in one family.

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118492

25 October 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/21551164

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1530/EJE-11-0101

1 reference

6 August 2017

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6 August 2017

1 reference