Keppen-Lubinsky syndrome is caused by mutations in the inwardly rectifying K+ channel encoded by KCNJ6. (Q34459609)

2 August 2017

0 references

Keppen-Lubinsky syndrome is caused by mutations in the inwardly rectifying K+ channel encoded by KCNJ6. (English)

1 reference

2 August 2017

13

1 reference

2 August 2017

12

Marco Cappa

1 reference

2 August 2017

4

Lina Basel-Vanagaite

0 references

Antonella Celluzzi

object named as

Antonella Celluzzi

0 references

Paolo Uva

object named as

Paolo Uva

2

0 references

Mingyan Fang

object named as

Mingyan Fang

9

0 references

author name string

Andrea Masotti

1

1 reference

2 August 2017

Laura Davis-Keppen

3

1 reference

2 August 2017

Lior Cohen

5

1 reference

2 August 2017

Elisa Pisaneschi

6

1 reference

2 August 2017

Paola Bencivenga

8

1 reference

2 August 2017

Mingyu Tian

10

1 reference

2 August 2017

Xun Xu

11

1 reference

2 August 2017

language of work or name

English

0 references

publication date

22 January 2015

1 reference

American Journal of Human Genetics

2 August 2017

1 reference

2 August 2017

96

1 reference

2 August 2017

2

1 reference

2 August 2017

295-300

1 reference

X-ray structure of the mammalian GIRK2–βγ G-protein complex

2 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320262

Predicting mendelian disease-causing non-synonymous single nucleotide variants in exome sequencing studies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320262

Voltage-gated K+ channels in adipogenic differentiation of bone marrow-derived human mesenchymal stem cells

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320262

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320262

An integrated map of genetic variation from 1,092 human genomes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320262

Trisomy of the G protein-coupled K+ channel gene, Kcnj6, affects reward mechanisms, cognitive functions, and synaptic plasticity in mice

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320262

A comprehensive framework for prioritizing variants in exome sequencing studies of Mendelian diseases

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320262

Crystal Structure of the Mammalian GIRK2 K+ Channel and Gating Regulation by G Proteins, PIP2, and Sodium

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320262

A framework for variation discovery and genotyping using next-generation DNA sequencing data

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320262

Towards a knowledge-based Human Protein Atlas

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320262

Emerging roles for G protein-gated inwardly rectifying potassium (GIRK) channels in health and disease.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320262

Characterization of voltage-gated potassium channels in human neural progenitor cells

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320262

Membrane potential controls adipogenic and osteogenic differentiation of mesenchymal stem cells

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320262

A human protein atlas for normal and cancer tissues based on antibody proteomics

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320262

Impermeability of the GIRK2 weaver channel to divalent cations.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320262

Normal cerebellar development but susceptibility to seizures in mice lacking G protein-coupled, inwardly rectifying K+ channel GIRK2

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320262

The weaver mutation of GIRK2 results in a loss of inwardly rectifying K+ current in cerebellar granule cells

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320262

The weaver mouse: a most cantankerous rodent

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320262

Mutations in the K+ channel signature sequence

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320262

Evidence that neuronal G-protein-gated inwardly rectifying K+ channels are activated by G beta gamma subunits and function as heteromultimers

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320262

Negative Conductance Caused by Entry of Sodium and Cesium Ions into the Potassium Channels of Squid Axons

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320262

Keppen-Lubinsky syndrome: Expanding the phenotype.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320262

New syndrome with generalized lipodystrophy and a distinctive facial appearance: confirmation of Keppen-Lubinski syndrome?

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320262

Functional effects of the mouse weaver mutation on G protein-gated inwardly rectifying K+ channels

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320262

10.1016/J.AJHG.2014.12.011

27 October 2018

Identifiers

DOI

1 reference

2 August 2017

1 reference

2 August 2017

1 reference