(Q38244120)

31 August 2017

title

Inherited disorders of renal hypomagnesaemia (English)

1 reference

31 August 2017

Martin Konrad

1

1 reference

31 August 2017

Karl Peter Schlingmann

series ordinal

2

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31 August 2017

language of work or name

English

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publication date

1 September 2014

1 reference

Nephrology Dialysis Transplantation

31 August 2017

published in

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31 August 2017

volume

29 Suppl 4

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31 August 2017

page(s)

iv63-71

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

31 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU198

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

21 January 2018

1 reference

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Lecture: New light on the role of claudins in the kidney

21 January 2018

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Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. A new syndrome

21 January 2018

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Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III

21 January 2018

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PTH-independent regulation of blood calcium concentration by the calcium-sensing receptor

21 January 2018

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Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation

21 January 2018

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A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor

21 January 2018

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Association between activating mutations of calcium-sensing receptor and Bartter's syndrome

21 January 2018

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Transcriptional and functional analyses of SLC12A3 mutations: new clues for the pathogenesis of Gitelman syndrome.

21 January 2018

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Gitelman's syndrome revisited: an evaluation of symptoms and health-related quality of life.

21 January 2018

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Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter

21 January 2018

1 reference

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Spectrum of mutations in Gitelman syndrome

21 January 2018

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Enhanced passive Ca2+ reabsorption and reduced Mg2+ channel abundance explains thiazide-induced hypocalciuria and hypomagnesemia

21 January 2018

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Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations

21 January 2018

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Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10.

21 January 2018

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SeSAME/EAST syndrome--phenotypic variability and delayed activity of the distal convoluted tubule.

21 January 2018

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The salt-wasting phenotype of EAST syndrome, a disease with multifaceted symptoms linked to the KCNJ10 K+ channel

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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Targeted deletion of murine Cldn16 identifies extra- and intrarenal compensatory mechanisms of Ca2+ and Mg2+ wasting.

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU198

Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene family

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU198

Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU198

Novel TRPM6 mutations in 21 families with primary hypomagnesemia and secondary hypocalcemia

21 January 2018

1 reference

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CACP syndrome: identification of five novel mutations and of the first case of UPD in the largest European cohort

21 January 2018

1 reference

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Characterization of the Protein Kinase Activity of TRPM7/ChaK1, a Protein Kinase Fused to the Transient Receptor Potential Ion Channel

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU198

LTRPC7 is a Mg.ATP-regulated divalent cation channel required for cell viability

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU198

Regulation of vertebrate cellular Mg2+ homeostasis by TRPM7.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU198

TRPM6 forms the Mg2+ influx channel involved in intestinal and renal Mg2+ absorption

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU198

Disruption of TRPM6/TRPM7 complex formation by a mutation in the TRPM6 gene causes hypomagnesemia with secondary hypocalcemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU198

Hypomagnesemia with secondary hypocalcemia due to a missense mutation in the putative pore-forming region of TRPM6.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU198

Gene variation of the transient receptor potential cation channel, subfamily M, members 6 (TRPM6) and 7 (TRPM7), and type 2 diabetes mellitus: a case-control study

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU198

Loss of insulin-induced activation of TRPM6 magnesium channels results in impaired glucose tolerance during pregnancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU198

Renal magnesium wasting in two families with autosomal dominant inheritance

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU198

Dominant isolated renal magnesium loss is caused by misrouting of the Na(+),K(+)-ATPase gamma-subunit

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU198

Structure/function studies of the gamma subunit of the Na,K-ATPase

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU198

Na,K-ATPase from mice lacking the gamma subunit (FXYD2) exhibits altered Na+ affinity and decreased thermal stability

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU198

A missense mutation in the Kv1.1 voltage-gated potassium channel-encoding gene KCNA1 is linked to human autosomal dominant hypomagnesemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU198

Functional analysis of the Kv1.1 N255D mutation associated with autosomal dominant hypomagnesemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU198

CNNM2, encoding a basolateral protein required for renal Mg2+ handling, is mutated in dominant hypomagnesemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU198

Genome-wide association studies of serum magnesium, potassium, and sodium concentrations identify six Loci influencing serum magnesium levels

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU198

Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU198

HNF1B mutations associate with hypomagnesemia and renal magnesium wasting

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU198

Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU198

Impaired basolateral sorting of pro-EGF causes isolated recessive renal hypomagnesemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU198

EGF increases TRPM6 activity and surface expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU198

21 January 2018

Identifiers

DOI

10.1093/NDT/GFU198

1 reference

31 August 2017

1 reference