CLDN16 genotype predicts renal decline in familial hypomagnesemia with hypercalciuria and nephrocalcinosis (Q36667128)

15 August 2017

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

1 reference

15 August 2017

15

André Schaller

1 reference

15 August 2017

Martin Konrad

1

1 reference

15 August 2017

Jianghui Hou

2

1 reference

15 August 2017

Stefanie Weber

3

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15 August 2017

Jörg Dötsch

4

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15 August 2017

Jameela A Kari

5

1 reference

15 August 2017

Tomas Seeman

6

1 reference

15 August 2017

Eberhard Kuwertz-Bröking

7

1 reference

15 August 2017

Amira Peco-Antic

8

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15 August 2017

Velibor Tasic

9

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15 August 2017

Katalin Dittrich

10

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15 August 2017

Hammad O Alshaya

11

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15 August 2017

Rodo O von Vigier

12

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15 August 2017

Sabina Gallati

13

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15 August 2017

Daniel A Goodenough

14

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15 August 2017

14 November 2007

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Journal of the American Society of Nephrology

15 August 2017

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15 August 2017

19

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15 August 2017

171-181

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15 August 2017

1

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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

15 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2391030

Study of claudin function by RNA interference

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2391030

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2391030

Kidney claudin-19: localization in distal tubules and collecting ducts and dysregulation in polycystic renal disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2391030

Tight junction biology and kidney dysfunction

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2391030

Paracellin-1 and the modulation of ion selectivity of tight junctions

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2391030

Mechanisms of tubulointerstitial fibrosis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2391030

The role of epithelial-to-mesenchymal transition in renal fibrosis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2391030

Epithelial to mesenchymal transition in renal fibrogenesis: pathologic significance, molecular mechanism, and therapeutic intervention

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2391030

Molecular consequences of cystic fibrosis transmembrane regulator (CFTR) gene mutations in the exocrine pancreas

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2391030

Regulation of tight junctions during the epithelium-mesenchyme transition: direct repression of the gene expression of claudins/occludin by Snail

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2391030

Recent advances in molecular genetics of hereditary magnesium-losing disorders

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2391030

Claudins create charge-selective channels in the paracellular pathway between epithelial cells

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2391030

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2391030

Regulated expression of claudin-4 decreases paracellular conductance through a selective decrease in sodium permeability

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2391030

Epithelial magnesium transport and regulation by the kidney

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2391030

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2391030

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2391030

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2391030

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2391030

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2391030

Clinical presentation and outcome in primary familial hypomagnesaemia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2391030

Hypomagnesaemia of hereditary renal origin

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2391030

Renal magnesium wasting, incomplete tubular acidosis, hypercalciuria and nephrocalcinosis in siblings

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2391030

Urinary phosphate/creatinine, calcium/creatinine, and magnesium/creatinine ratios in a healthy pediatric population.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2391030

Renal magnesium and phosphate wastage in a patient with hypercalciuria and nephrocalcinosis: effect of oral phosphorus and magnesium supplements.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2391030

Hydrochlorothiazide in CLDN16 mutation.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2391030

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: blocking endocytosis restores surface expression of a novel Claudin-16 mutant that lacks the entire C-terminal cytosolic tail.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2391030

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis associated with CLDN16 mutations

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2391030

Two heterozygous mutations of CLDN16 in a Japanese patient with FHHNC

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2391030

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2391030

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

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2391030

Transgenic RNAi depletion of claudin-16 and the renal handling of magnesium

20 September 2018

1 reference

12 December 2020

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis

1 reference

12 December 2020

Paracellular channels!

1 reference

12 December 2020

Pathological changes of renal tubular dysplasia in Japanese black cattle

1 reference

12 December 2020

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

1 reference

12 December 2020

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

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Pathophysiology of the renal acidification defect present in the syndrome of familial hypomagnesaemia-hypercalciuria

1 reference

12 December 2020

Identifiers

DOI

10.1681/ASN.2007060709

1 reference

15 August 2017

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15 August 2017

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