(Q33371790)

26 July 2017

title

Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (FHHNC): compound heterozygous mutation in the claudin 16 (CLDN16) gene (English)

1 reference

26 July 2017

1 reference

Geeta Hampson

1

1 reference

26 July 2017

Martin A Konrad

series ordinal

2

1 reference

26 July 2017

John Scoble

series ordinal

3

1 reference

26 July 2017

publication date

24 September 2008

1 reference

26 July 2017

1 reference

26 July 2017

volume

9

1 reference

26 July 2017

page(s)

12

1 reference

Creative Commons Attribution 2.0 Generic

26 July 2017

copyright license

start time

24 September 2008

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

1 reference

April 2022 Public Data File from Crossref

exact match

https://scigraph.springernature.com/pub.10.1186/1471-2369-9-12

0 references

cites work

CLDN16 genotype predicts renal decline in familial hypomagnesemia with hypercalciuria and nephrocalcinosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2562370

Impaired basolateral sorting of pro-EGF causes isolated recessive renal hypomagnesemia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2562370

Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2562370

An unusual patient with hypercalciuria, recurrent nephrolithiasis, hypomagnesemia and G227R mutation of Paracellin-1. An unusual patient with hypercalciuria and hypomagnesemia unresponsive to thiazide diuretics

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2562370

Hypomagnesemia with hypercalciuria and nephrocalcinosis: case report and a family study

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2562370

Salt handling and hypertension

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2562370

Insights into the molecular nature of magnesium homeostasis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2562370

A novel claudin 16 mutation associated with childhood hypercalciuria abolishes binding to ZO-1 and results in lysosomal mistargeting

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2562370

Novel paracellin-1 mutations in 25 families with familial hypomagnesemia with hypercalciuria and nephrocalcinosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2562370

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2562370

Dominant isolated renal magnesium loss is caused by misrouting of the Na(+),K(+)-ATPase gamma-subunit

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2562370

Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2562370

Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2562370

Ion transport mechanisms in thick ascending limb of Henle's loop of mammalian nephron

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2562370

Two heterozygous mutations of CLDN16 in a Japanese patient with FHHNC

21 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1471-2369-9-12

Salt handling and hypertension

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1471-2369-9-12

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18816383

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Impaired response to furosemide in hyperprostaglandin E syndrome: evidence for a tubular defect in the loop of Henle

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18816383

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A novel PCLN-1 gene mutation in familial hypomagnesemia with hypercalciuria and atypical phenotype

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18816383

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1471-2369-9-12

1 reference

Dimensions Publication ID

26 July 2017

0 references

1 reference

26 July 2017

1 reference