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

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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

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2 August 2017

RenalTube Group

19

1 reference

2 August 2017

language of work or name

English

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publication date

3 January 2013

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2 August 2017

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2 August 2017

volume

8

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2 August 2017

issue

1

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2 August 2017

page(s)

e53151

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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

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

7 July 2018

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

7 July 2018

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

7 July 2018

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

7 July 2018

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

7 July 2018

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7 July 2018

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

7 July 2018

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

7 July 2018

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7 July 2018

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

7 July 2018

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7 July 2018

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7 July 2018

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7 July 2018

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7 July 2018

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7 July 2018

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7 July 2018

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7 July 2018

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7 July 2018

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Crossref

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Familial hypomagnesemia with hypercalciuria and nephrocalcinosis associated with CLDN16 mutations

21 January 2018

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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

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

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inferred from PubMed ID database lookup

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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