(Q36055794)

11 August 2017

Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis (English)

1 reference

Author Correction: Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis

11 August 2017

corrigendum / erratum

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26333996%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Shin Lin

4

1 reference

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1 June 2020

Kristiana Gordon

5

1 reference

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1 June 2020

Pia Ostergaard

18

1 reference

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1 June 2020

author name string

Elisavet Fotiou

1

1 reference

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1 June 2020

Silvia Martin-Almedina

2

1 reference

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1 June 2020

Glen Brice

6

1 reference

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1 June 2020

Giles Atton

7

1 reference

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1 June 2020

Iona Jeffery

8

1 reference

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1 June 2020

David C Rees

9

1 reference

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1 June 2020

Cyril Mignot

10

1 reference

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1 June 2020

Julie Vogt

11

1 reference

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1 June 2020

Tessa Homfray

12

1 reference

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1 June 2020

Michael P Snyder

13

1 reference

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1 June 2020

Stanley G Rockson

14

1 reference

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1 June 2020

Steve Jeffery

15

1 reference

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1 June 2020

Peter S Mortimer

16

1 reference

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1 June 2020

Sahar Mansour

17

1 reference

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1 June 2020

language of work or name

English

0 references

publication date

3 September 2015

1 reference

11 August 2017

Nature Communications

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26333996%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

volume

6

1 reference

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1 June 2020

page(s)

8085

1 reference

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https://scigraph.springernature.com/pub.10.1038/ncomms9085

1 June 2020

exact match

0 references

cites work

The lymphatic phenotype in Turner syndrome: an evaluation of nineteen patients and literature review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568316

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=4568316

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=4568316

Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem 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=4568316

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=4568316

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=4568316

The classification and diagnostic algorithm for primary lymphatic dysplasia: an update from 2010 to include molecular findings.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568316

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=4568316

Plasticity of button-like junctions in the endothelium of airway lymphatics in development and inflammation

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568316

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=4568316

Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568316

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=4568316

MutationTaster evaluates disease-causing potential of sequence alterations

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568316

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=4568316

BEDTools: a flexible suite of utilities for comparing genomic features

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568316

Integrin activation by Fam38A uses a novel mechanism of R-Ras targeting to the endoplasmic reticulum

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568316

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=4568316

Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568316

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=4568316

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568316

Primer3 on the WWW for general users and for biologist programmers

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568316

Recurrent mutation in the PIEZO1 gene in two families of hereditary xerocytosis with fetal hydrops

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568316

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

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568316

Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568316

Etiology of non-immune hydrops fetalis: An update

23 September 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568316

21 October 2018

https://api.crossref.org/works/10.1038%2FNCOMMS9085

Popliteal node visualization during standard pedal lymphoscintigraphy for a swollen limb indicates impaired lymph drainage

21 January 2018

1 reference

12 December 2020

Pleiotropic syndrome of dehydrated hereditary stomatocytosis, pseudohyperkalemia, and perinatal edema maps to 16q23-q24

1 reference

12 December 2020

Dehydrated hereditary stomatocytosis: a cause of prenatal ascites

1 reference

12 December 2020

Xerocytosis with concomitant intrauterine ascites: first description and therapeutic approach

1 reference

12 December 2020

First-trimester nuchal abnormalities secondary to dehydrated hereditary stomatocytosis

1 reference

12 December 2020

EIF3G is associated with narcolepsy across ethnicities

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNCOMMS9085

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1038/NCOMMS9085

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26333996%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26333996%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26333996%20AND%20SRC:MED&resulttype=core&format=json