A novel claudin 16 mutation associated with childhood hypercalciuria abolishes binding to ZO-1 and results in lysosomal mistargeting (Q24532149)

4 July 2017

title

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

1 reference

4 July 2017

author

Felix Claverie-Martin

object named as

Felix Claverie-Martin

3

0 references

Walter Hunziker

object named as

Walter Hunziker

7

0 references

author name string

Dominik Müller

1

1 reference

4 July 2017

P Jaya Kausalya

2

1 reference

4 July 2017

Iwan C Meij

4

1 reference

4 July 2017

Paul Eggert

5

1 reference

4 July 2017

Victor Garcia-Nieto

6

1 reference

4 July 2017

language of work or name

English

0 references

publication date

18 November 2003

1 reference

American Journal of Human Genetics

4 July 2017

published in

1 reference

4 July 2017

volume

73

1 reference

4 July 2017

issue

6

1 reference

4 July 2017

page(s)

1293-1301

1 reference

Direct binding of three tight junction-associated MAGUKs, ZO-1, ZO-2, and ZO-3, with the COOH termini of claudins

4 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180395

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180395

Claudin multigene family encoding four-transmembrane domain protein components of tight junction strands

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180395

PDZ domains: structural modules for protein complex assembly

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180395

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180395

Multifunctional strands in tight junctions

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180395

The roles of claudin superfamily proteins in paracellular transport

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180395

MAGUK proteins: structure and role in the tight junction

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180395

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180395

The vesicle docking protein p115 binds GM130, a cis-Golgi matrix protein, in a mitotically regulated manner

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180395

Primary gene structure and expression studies of rodent paracellin-1

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180395

Exclusion of mutations in FXYD2, CLDN16 and SLC12A3 in two families with primary renal Mg2+ loss

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180395

Connexin45 directly binds to ZO-1 and localizes to the tight junction region in epithelial MDCK cells.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180395

Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180395

The PDZ domains of zonula occludens-1 induce an epithelial to mesenchymal transition of Madin-Darby canine kidney I cells. Evidence for a role of beta-catenin/Tcf/Lef signaling

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180395

Intracellular trafficking of lysosomal membrane proteins.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180395

Cytoplasmic determinants involved in direct lysosomal sorting, endocytosis, and basolateral targeting of rat lgp120 (lamp-I) in MDCK cells.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180395

An endogenous MDCK lysosomal membrane glycoprotein is targeted basolaterally before delivery to lysosomes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180395

PDZ domains bind carboxy-terminal sequences of target proteins

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180395

Hypercalciuria in children with hematuria

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180395

Epithelial Ca(2+) channel (ECAC1) in autosomal dominant idiopathic hypercalciuria.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180395

Desmopressin for nocturnal enuresis in nephrogenic diabetes insipidus

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180395

Paracellin-1 is critical for magnesium and calcium reabsorption in the human thick ascending limb of Henle

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180395

A deletion of the paracellin-1 gene is responsible for renal tubular dysplasia in cattle.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180395

Reference values for urinary calcium excretion and screening for hypercalciuria in children and adolescents.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180395

Hypercalciuria in the frequency-dysuria syndrome of childhood

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/14628289

12 December 2020

inferred from PubMed ID database lookup

Idiopathic hypercalciuria of childhood: 4- to 11-year outcome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/14628289

12 December 2020

inferred from PubMed ID database lookup

Urinary aquaporin 2 and calciuria correlate with the severity of enuresis in children

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/14628289

12 December 2020

inferred from PubMed ID database lookup

Fetal urine indices as indicators of kidney function

1 reference

Crossref

https://api.crossref.org/works/10.1086%2F380418

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1086/380418

1 reference

4 July 2017

0 references

1 reference