(Q36081892)

12 August 2017

Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia (English)

1 reference

12 August 2017

0 references

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26387913%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Helen J Kim

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26387913%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

12

Ardem Patapoutian

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26387913%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

8

Michael Bandell

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26387913%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

2

Jayanti Mathur

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26387913%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

author name string

Rong Mao

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26387913%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Pinar Bayrak-Toydemir

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26387913%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Melinda Procter

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26387913%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Stuart M Cahalan

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26387913%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Nicola Longo

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26387913%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Ronald W Day

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26387913%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

David A Stevenson

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26387913%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Bryan L Krock

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26387913%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

language of work or name

English

0 references

publication date

21 September 2015

1 reference

12 August 2017

Nature Communications

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26387913%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

volume

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26387913%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

page(s)

8329

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26387913%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 4.0 International

2 June 2020

copyright license

start time

21 September 2015

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Piezo1 ion channel pore properties are dictated by C-terminal region.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4578306

Chemical activation of the mechanotransduction 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=4578306

Piezo1 links mechanical forces to red blood 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=4578306

A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4578306

Merkel cells and neurons keep in touch

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4578306

Piezo2 is the major transducer of mechanical forces for touch sensation in mice

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4578306

Piezo1 integration of vascular architecture with physiological force.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4578306

Piezo1, a mechanically activated ion channel, is required for vascular development in mice.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4578306

Piezo2 is required for Merkel-cell mechanotransduction

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4578306

Piezo1-dependent stretch-activated channels are inhibited by Polycystin-2 in renal tubular epithelial 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=4578306

Genome engineering using the CRISPR-Cas9 system

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4578306

Slower Piezo1 inactivation in dehydrated hereditary stomatocytosis (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=4578306

BMP9 mutations cause a vascular-anomaly syndrome with phenotypic overlap with hereditary hemorrhagic telangiectasia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4578306

Piezo1 plays a role in erythrocyte volume homeostasis.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4578306

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=4578306

Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4578306

Fiji: an open-source platform for biological-image analysis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4578306

The Brugada syndrome mutation A39V does not affect surface expression of neuronal rat Cav1.2 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=4578306

Piezo proteins are pore-forming subunits of mechanically activated 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=4578306

Mechanoinduction of lymph vessel expansion

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4578306

Computer control of microscopes using µManager

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4578306

Piezo1 and Piezo2 Are Essential Components of Distinct Mechanically Activated Cation 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=4578306

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=4578306

ANNOVAR: functional annotation of genetic variants from high-throughput 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=4578306

A method and server for predicting damaging missense mutations

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4578306

Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4578306

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4578306

The Sequence Alignment/Map format and SAMtools

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4578306

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=4578306

Defective Potassium Channel Kir2.1 Trafficking Underlies Andersen-Tawil Syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4578306

Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in 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=4578306

Mechanotransduction, PROX1, and FOXC2 cooperate to control connexin37 and calcineurin during lymphatic-valve formation.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4578306

A genetic syndrome associating dehydrated hereditary stomatocytosis, pseudohyperkalaemia and perinatal oedema

23 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26387913

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Xerocytosis with concomitant intrauterine ascites: first description and therapeutic approach

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26387913

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NCOMMS9329

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26387913%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

2 June 2020

ADS bibcode

2015NatCo...6.8329L

0 references

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26387913%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

PubMed publication ID

26387913

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26387913%20AND%20SRC:MED&resulttype=core&format=json