(Q36051078)

11 August 2017

Mutations in the Gardos channel (KCNN4) are associated with hereditary xerocytosis (English)

1 reference

11 August 2017

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26198474%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

author name string

Edyta Glogowska

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26198474%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

Kimberly Lezon-Geyda

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26198474%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

Yelena Maksimova

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26198474%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

Patrick G Gallagher

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26198474%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

language of work or name

English

0 references

publication date

21 July 2015

1 reference

11 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26198474%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

volume

126

1 reference

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14 June 2020

issue

11

1 reference

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14 June 2020

page(s)

1281-1284

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26198474%20AND%20SRC:MED&resulttype=core&format=json

A mutation in the Gardos channel is associated with hereditary xerocytosis

14 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4566808

Piezo proteins: regulators of mechanosensation and other cellular processes

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4566808

Human PIEZO1: removing inactivation

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4566808

Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channels

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4566808

Xerocytosis is caused by mutations that alter the kinetics of the mechanosensitive channel PIEZO1

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4566808

Identification of biologically relevant enhancers in human erythroid cells

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4566808

Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4566808

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4566808

A map of human genome variation from population-scale sequencing

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4566808

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4566808

Local membrane deformations activate Ca2+-dependent K+ and anionic currents in intact human red blood cells

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4566808

Sequence variants in three loci influence monocyte counts and erythrocyte volume

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4566808

A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4566808

Fast and accurate short read alignment with Burrows-Wheeler transform

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4566808

Pathophysiology of red cell volume

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4566808

dbSNP: the NCBI database of genetic variation

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4566808

Improving SNP discovery by base alignment quality

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4566808

Gardos pathway to sickle cell therapies?

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4566808

Congenital hemolytic anemia associated with dehydrated erythrocytes and increased potassium loss

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4566808

The relationship between in vivo generated hemoglobin skeletal protein complex and increased red cell membrane rigidity.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4566808

Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4566808

Improvements in haemolysis and indicators of erythrocyte survival do not correlate with acute vaso-occlusive crises in patients with sickle cell disease: a phase III randomized, placebo-controlled, double-blind study of the Gardos channel blocker se

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4566808

10.1182/BLOOD-2015-07-657957

23 September 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26198474%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26198474%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

PubMed publication ID

26198474

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26198474%20AND%20SRC:MED&resulttype=core&format=json