(Q34778748)

4 August 2017

Cantú syndrome resulting from activating mutation in the KCNJ8 gene (English)

1 reference

4 August 2017

1 reference

Gijs van Haaften

6

0 references

Alexander Hoischen

8

object named as

Alexander Hoischen

1 reference

4 August 2017

5

Dorothy K Grange

1 reference

4 August 2017

Paige E Cooper

1

1 reference

4 August 2017

Heiko Reutter

2

1 reference

4 August 2017

Joachim Woelfle

3

1 reference

4 August 2017

Hartmut Engels

4

1 reference

4 August 2017

Bregje W van Bon

7

1 reference

4 August 2017

Colin G Nichols

9

1 reference

4 August 2017

6 May 2014

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4 August 2017

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4 August 2017

35

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4 August 2017

809-813

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4 August 2017

7

1 reference

Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition

4 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4277879

Hypotension due to Kir6.1 gain-of-function in vascular smooth muscle.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4277879

The KCNJ8-S422L variant previously associated with J-wave syndromes is found at an increased frequency in Ashkenazi Jews

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4277879

Expression and function of K(ATP) channels in normal and osteoarthritic human chondrocytes: possible role in glucose sensing

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4277879

Dominant missense mutations in ABCC9 cause Cantú syndrome.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4277879

Cantú syndrome is caused by mutations in ABCC9.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4277879

Molecular genetic and functional association of Brugada and early repolarization syndromes with S422L missense mutation in KCNJ8

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4277879

Unique properties of the ATP-sensitive K⁺ channel in the mouse ventricular cardiac conduction system

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4277879

The mitochondrial bioenergetic phenotype for protection from cardiac ischemia in SUR2 mutant mice

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4277879

Muscle KATP channels: recent insights to energy sensing and myoprotection

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4277879

Cardiomyocyte sulfonylurea receptor 2-KATP channel mediates cardioprotection and ST segment elevation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4277879

Gain-of-function mutation S422L in the KCNJ8-encoded cardiac K(ATP) channel Kir6.1 as a pathogenic substrate for J-wave syndromes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4277879

Ventricular fibrillation with prominent early repolarization associated with a rare variant of KCNJ8/KATP channel

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4277879

KATP channels as molecular sensors of cellular metabolism

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4277879

Molecular basis and characteristics of KATP channel in human corporal smooth muscle cells

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4277879

Pseudoacromegaly induced by the long-term use of minoxidil

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4277879

Growth hormone-releasing peptide-2 reduces inward rectifying K+ currents via a PKA-cAMP-mediated signalling pathway in ovine somatotropes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4277879

Further case of Cantú syndrome: exclusion of cryptic subtelomeric chromosome aberrations

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4277879

Expression of mRNA for voltage-dependent and inward-rectifying K channels in GH3/B6 cells and rat pituitary

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4277879

Structure and dynamics of the pore of inwardly rectifying K(ATP) channels.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4277879

Neuroendocrine control of growth hormone secretion

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4277879

Molecular determinants of KATP channel inhibition by ATP.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4277879

Calcitonin gene-related peptide rapidly inhibits calcium uptake in osteoblastic cell lines via activation of adenosine triphosphate-sensitive potassium channels

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4277879

A distinct osteochondrodysplasia with hypertrichosis- Individualization of a probable autosomal recessive entity.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4277879

Hypertrichosis and congenital anomalies associated with maternal use of minoxidil.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4277879

KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features.

7 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FHUMU.22555

Echocardiography monitoring for diazoxide induced pericardial effusion

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4277879

Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations inABCC9

26 October 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FHUMU.22555

21 January 2018

Identifiers

DOI

10.1002/HUMU.22555

1 reference

4 August 2017

1 reference

4 August 2017

1 reference