(Q34542357)

2 August 2017

title

Claudin-19 mutations and clinical phenotype in Spanish patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis (English)

1 reference

2 August 2017

author

Felix Claverie-Martin

object named as

Félix Claverie-Martín

1

0 references

Luis Castaño

1 reference

ORCID Public Data File 2021

Leire Madariaga

1 reference

ORCID Public Data File 2021

author name string

Víctor García-Nieto

2

1 reference

2 August 2017

Cesar Loris

3

1 reference

2 August 2017

Gema Ariceta

4

1 reference

2 August 2017

Inmaculada Nadal

5

1 reference

2 August 2017

Laura Espinosa

6

1 reference

2 August 2017

Ángeles Fernández-Maseda

7

1 reference

2 August 2017

Montserrat Antón-Gamero

8

1 reference

2 August 2017

Africa Avila

9

1 reference

2 August 2017

Álvaro Madrid

10

1 reference

2 August 2017

Hilaria González-Acosta

11

1 reference

2 August 2017

Elizabeth Córdoba-Lanus

12

1 reference

2 August 2017

Fernando Santos

13

1 reference

2 August 2017

Marta Gil-Calvo

14

1 reference

2 August 2017

Mar Espino

15

1 reference

2 August 2017

Elena García-Martinez

16

1 reference

2 August 2017

Ana Sanchez

17

1 reference

2 August 2017

Rafael Muley

18

1 reference

2 August 2017

RenalTube Group

19

1 reference

2 August 2017

language of work or name

English

0 references

publication date

3 January 2013

1 reference

2 August 2017

1 reference

2 August 2017

volume

8

1 reference

2 August 2017

issue

1

1 reference

2 August 2017

page(s)

e53151

1 reference

Creative Commons Attribution 4.0 International

2 August 2017

copyright license

start time

3 January 2013

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: phenotype-genotype correlation and outcome in 32 patients with CLDN16 or CLDN19 mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3536807

Mutation in the tight-junction gene claudin 19 (CLDN19) and familial hypomagnesemia, hypercalciuria, nephrocalcinosis (FHHNC) and severe ocular disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3536807

Renal, ocular, and neuromuscular involvements in patients with CLDN19 mutations

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3536807

Claudin-16 and claudin-19 function in the thick ascending limb

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3536807

Claudin-16 and claudin-19 interaction is required for their assembly into tight junctions and for renal reabsorption of magnesium

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3536807

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3536807

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3536807

Function and regulation of claudins in the thick ascending limb of Henle

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3536807

Claudin-16 and claudin-19 interact and form a cation-selective tight junction complex

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3536807

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3536807

Renal localization and function of the tight junction protein, claudin-19.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3536807

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3536807

Defective splicing, disease and therapy: searching for master checkpoints in exon definition.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3536807

Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3536807

Disease-associated mutations affect intracellular traffic and paracellular Mg2+ transport function of Claudin-16

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3536807

Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3536807

Tight junctions in Schwann cells of peripheral myelinated axons: a lesson from claudin-19-deficient mice

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3536807

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3536807

Listening to silence and understanding nonsense: exonic mutations that affect splicing

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3536807

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3536807

Predicting deleterious amino acid substitutions

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3536807

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3536807

Hypomagnesaemia-hypercalciuria-nephrocalcinosis: a report of nine cases and a review

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3536807

Towards a structural basis of human non-synonymous single nucleotide polymorphisms

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3536807

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3536807

Improved splice site detection in Genie

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3536807

Hypomagnesaemia of hereditary renal origin

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3536807

Two heterozygous mutations of CLDN16 in a Japanese patient with FHHNC

7 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0053151

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis associated with CLDN16 mutations

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0053151

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

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3536807

The use of plasma creatinine concentration for estimating glomerular filtration rate in infants, children, and adolescents

27 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23301036

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23301036

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

[Familial hypomagnesemia with hypercalciuria and nephrocalcinosis. Association with ocular abnormalities]

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23301036

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PONE.0053151

1 reference

2 August 2017

0 references

1 reference

2 August 2017

1 reference