CNNM2, encoding a basolateral protein required for renal Mg2+ handling, is mutated in dominant hypomagnesemia (Q24296446)

Solute carrier family 12 member 3

1 reference

Cyclin M2

1 reference

Solute carrier family 12, member 3

1 reference

Uromodulin

1 reference

16

Olivier Devuyst

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Huguette Debaix

6

object named as

Huguette Debaix

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Dorothee Günzel

5

object named as

Dorothee Günzel

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author name string

Marchel Stuiver

1

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Sergio Lainez

2

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Constanze Will

3

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Sara Terryn

4

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Huguette Debaix

6

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Kerstin Sommer

7

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Kathrin Kopplin

8

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Julia Thumfart

9

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Nicole B Kampik

10

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Uwe Querfeld

11

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Thomas E Willnow

12

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Vladimír Němec

13

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Carsten A Wagner

14

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Joost G Hoenderop

15

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Nine V A M Knoers

17

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René J Bindels

18

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Iwan C Meij

19

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Dominik Müller

American Journal of Human Genetics

20

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language of work or name

English

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publication date

11 March 2011

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published in

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volume

88

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page(s)

333-43

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issue

3

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describes a project that uses

ImageJ

1 reference

Europe PubMed Central

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3059432/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

cites work

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

1 reference

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Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta

19 March 2017

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Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta

19 March 2017

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Mg2+-sensing mechanism of Mg2+ transporter MgtE probed by molecular dynamics study

19 March 2017

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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

19 March 2017

1 reference

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Molecular cloning and characterization of the mouse Acdp gene family

19 March 2017

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

19 March 2017

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Hereditary isolated renal magnesium loss maps to chromosome 11q23.

19 March 2017

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Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

19 March 2017

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Crystal structure of the MgtE Mg2+ transporter

19 March 2017

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Primer3 on the WWW for general users and for biologist programmers

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CBS domains: structure, function, and pathology in human proteins

19 March 2017

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

19 March 2017

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Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia

19 March 2017

1 reference

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

19 March 2017

1 reference

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Magnesium transport in Salmonella typhimurium: the influence of new mutations conferring Co2+resistance on the CorA Mg2+transport system

19 March 2017

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

19 March 2017

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New molecular players facilitating Mg(2+) reabsorption in the distal convoluted tubule

27 September 2017

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Claudin-16 affects transcellular Cl- secretion in MDCK cells

27 September 2017

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HNF1B mutations associate with hypomagnesemia and renal magnesium wasting

27 September 2017

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

27 September 2017

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Renal expression of parvalbumin is critical for NaCl handling and response to diuretics

27 September 2017

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

27 September 2017

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

27 September 2017

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Exclusion of mutations in FXYD2, CLDN16 and SLC12A3 in two families with primary renal Mg2+ loss

27 September 2017

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Magnesium transport in the renal distal convoluted tubule

27 September 2017

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

27 September 2017

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Magnesium transport in the gastrointestinal tract

27 September 2017

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Renal magnesium handling: new insights in understanding old problems

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Control of magnesium transport in the thick ascending limb

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Characterization of two MDCK-cell subtypes as a model system to study principal cell and intercalated cell properties

27 September 2017

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Immunomagnetic separation, primary culture, and characterization of cortical thick ascending limb plus distal convoluted tubule cells from mouse kidney.

27 September 2017

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Splice-variant 1 of the ancient domain protein 2 (ACDP2) complements the magnesium-deficient growth phenotype of Salmonella enterica sv. typhimurium strain MM281.

30 May 2018

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

29 November 2018

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29 November 2018

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A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin

29 November 2018

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Molecular cloning and characterization of a novel gene family of four ancient conserved domain proteins (ACDP).

29 November 2018

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Use of a bicistronic GFP-expression vector to characterise ion channels after transfection in mammalian cells

29 November 2018

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PubMed

https://pubmed.ncbi.nlm.nih.gov/21397062

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2011.02.005

1 reference

10.5167/UZH-47687

1 reference

1 reference

1 reference

1 reference