CNNM2 mutations cause impaired brain development and seizures in patients with hypomagnesemia (Q27316532)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24699222%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

title

CNNM2 mutations cause impaired brain development and seizures in patients with hypomagnesemia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24699222%20AND%20SRC:MED&resulttype=core&format=json

Cyclin and CBS domain divalent metal cation transport mediator 2a

12 March 2020

main subject

brain

0 references

1 reference

Cyclin and CBS domain divalent metal cation transport mediator 2b

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author

Francisco J Arjona

1

1 reference

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12 March 2020

Jeroen H F de Baaij

2

1 reference

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12 March 2020

author name string

Karl P Schlingmann

3

1 reference

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12 March 2020

Anke L L Lameris

4

1 reference

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12 March 2020

Gert Flik

6

1 reference

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12 March 2020

Sabrina Regele

7

1 reference

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12 March 2020

G Christoph Korenke

8

1 reference

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12 March 2020

Birgit Neophytou

9

1 reference

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12 March 2020

Stephan Rust

10

1 reference

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12 March 2020

Nadine Reintjes

11

1 reference

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12 March 2020

Martin Konrad

12

1 reference

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12 March 2020

René J M Bindels

13

1 reference

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12 March 2020

Joost G J Hoenderop

14

1 reference

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12 March 2020

Erwin van Wijk

5

1 reference

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12 March 2020

language of work or name

English

0 references

publication date

3 April 2014

1 reference

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12 March 2020

1 reference

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12 March 2020

volume

10

1 reference

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12 March 2020

page(s)

e1004267

1 reference

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12 March 2020

issue

4

1 reference

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Creative Commons Attribution 4.0 International

12 March 2020

copyright license

start time

3 April 2014

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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

1 reference

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Identification and characterization of a novel mammalian Mg2+ transporter with channel-like properties

21 March 2017

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Human gene SLC41A1 encodes for the Na+/Mg²+ exchanger

21 March 2017

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

21 March 2017

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Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia

21 March 2017

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The TRPM7 ion channel functions in cholinergic synaptic vesicles and affects transmitter release

21 March 2017

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Genome-wide association study identifies eight loci associated with blood pressure

21 March 2017

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Generation and validation of a zebrafish model of EAST (epilepsy, ataxia, sensorineural deafness and tubulopathy) syndrome

28 September 2017

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Novel mechanisms that pattern and shape the midbrain-hindbrain boundary

28 September 2017

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2-aminoethyl diphenyl borinate (2-APB) inhibits TRPM7 channels through an intracellular acidification mechanism

28 September 2017

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De novo mutations in human genetic disease

28 September 2017

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The channel kinase, TRPM7, is required for early embryonic development

28 September 2017

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Variation in the mutation rate across mammalian genomes

28 September 2017

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TRPM7 is required within zebrafish sensory neurons for the activation of touch-evoked escape behaviors.

28 September 2017

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TRPM6 and TRPM7: A Mul-TRP-PLIK-cation of channel functions.

28 September 2017

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TRPM7 facilitates cholinergic vesicle fusion with the plasma membrane.

28 September 2017

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Controlling morpholino experiments: don't stop making antisense.

28 September 2017

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28 September 2017

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28 September 2017

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80K-H as a new Ca2+ sensor regulating the activity of the epithelial Ca2+ channel transient receptor potential cation channel V5 (TRPV5).

28 September 2017

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Membrane topology and intracellular processing of cyclin M2 (CNNM2).

28 September 2017

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Early developmental alterations of low-Mg2+ -induced epileptiform activity in the intact corticohippocampal formation of the newborn mouse in vitro.

31 May 2018

1 reference

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EGF increases TRPM6 activity and surface expression

21 January 2018

1 reference

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Elucidation of the distal convoluted tubule transcriptome identifies new candidate genes involved in renal Mg(2+) handling.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1004267

Functional characterization of ACDP2 (ancient conserved domain protein), a divalent metal transporter.

21 January 2018

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

21 January 2018

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Genome-wide association study identifies five new schizophrenia loci

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1004267

Tissue-specific expression and in vivo regulation of zebrafish orthologues of mammalian genes related to symptomatic hypomagnesemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1004267

Time course of the development of motor behaviors in the zebrafish embryo.

21 January 2018

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https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1004267

Defective skeletogenesis with kidney stone formation in dwarf zebrafish mutant for trpm7.

21 January 2018

1 reference

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Neural Patterning: Midbrain–Hindbrain Boundary

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1004267

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

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3974678

Evaluation of hypomagnesemia: lessons from disorders of tubular transport

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24699222

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The sensitivity of a kidney ATPase to ouabain and to sodium and potassium

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24699222

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PGEN.1004267

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24699222%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24699222%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24699222%20AND%20SRC:MED&resulttype=core&format=json