(Q35917451)

English

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

scientific article published on 15 March 2012

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

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

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

Rosa Vargas-Poussou

20

object named as

Rosa Vargas-Poussou

0 references

Xavier Jeunemaitre

19

object named as

Xavier Jeunemaitre

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

Jérôme Harambat

2

object named as

Jérôme Harambat

0 references

object named as

Anne Blanchard

18

0 references

Vincent Guigonis

object named as

Vincent Guigonis

16

0 references

author name string

Astrid Godron

1

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

Jérôme Harambat

2

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

Valérie Boccio

3

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

Anne Mensire

4

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

Adrien May

5

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

Claire Rigothier

6

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

Lionel Couzi

7

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

Benoit Barrou

8

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

Michel Godin

9

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

Dominique Chauveau

10

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

Stanislas Faguer

11

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

Marion Vallet

12

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

Pierre Cochat

13

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

Philippe Eckart

14

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

Geneviève Guest

15

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

Pascal Houillier

17

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

Rosa Vargas-Poussou

20

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

publication date

15 March 2012

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

Clinical Journal of the American Society of Nephrology

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

7

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

5

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

801-809

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

Integration of tight junctions and claudins with the barrier functions of the retinal pigment epithelium

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338284

27 July 2018

The role of tight junctions in paracellular ion transport in the renal tubule: lessons learned from a rare inherited tubular disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338284

27 July 2018

Claudin-19 and the barrier properties of the human retinal pigment epithelium

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338284

27 July 2018

Claudins of intestine and nephron - a correlation of molecular tight junction structure and barrier function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338284

27 July 2018

Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338284

27 July 2018

New equations to estimate GFR in children with CKD

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338284

27 July 2018

Biology of claudins.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338284

27 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338284

27 July 2018

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=3338284

27 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338284

27 July 2018

Tight junction-related protein expression and distribution in human corneal epithelium

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338284

27 July 2018

Null mutation of PCLN-1/Claudin-16 results in bovine chronic interstitial nephritis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338284

27 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338284

27 July 2018

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis in three siblings having the same genetic lesion but different clinical presentations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338284

24 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338284

24 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338284

24 September 2018

Double gene deletion reveals lack of cooperation between claudin 11 and claudin 14 tight junction proteins.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338284

24 September 2018

Expressing the Modification of Diet in Renal Disease Study equation for estimating glomerular filtration rate with standardized serum creatinine values

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338284

24 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338284

24 September 2018

Comprehensive screening for constitutional RB1 mutations by DHPLC and QMPSF.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338284

24 September 2018

Novel paracellin-1 mutations in 25 families with 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=3338284

24 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338284

24 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338284

24 September 2018

A new deletion mutation in bovine Claudin-16 (CL-16) deficiency and diagnosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/22422540

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pathological changes of renal tubular dysplasia in Japanese black cattle

1 reference

https://pubmed.ncbi.nlm.nih.gov/22422540

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Decreased bicarbonate threshold and renal magnesium wasting in a sibship with distal renal tubular acidosis. (Evaluation of the pathophysiological role of parathyroid hormone)

1 reference

https://pubmed.ncbi.nlm.nih.gov/22422540

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Abnormal development of nephrons in claudin-16-defective Japanese black cattle

1 reference

https://pubmed.ncbi.nlm.nih.gov/22422540

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Renal dysplasia unrelated to claudin-16 deficiency in Japanese Black cattle

1 reference

https://pubmed.ncbi.nlm.nih.gov/22422540

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Report of a family with two different hereditary diseases leading to early nephrocalcinosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/22422540

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Great strides in the understanding of renal magnesium and calcium reabsorption

1 reference

https://pubmed.ncbi.nlm.nih.gov/22422540

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.2215/CJN.12841211

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q35917451&oldid=1605504465"