Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channels (Q34346004)

1 August 2017

title

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

1 reference

dehydrated hereditary stomatocytosis

1 August 2017

main subject

1 reference

dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema

inferred from title

1 reference

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

inferred from title

corrigendum / erratum

0 references

Xavier Jeunemaitre

1 reference

1 August 2017

Ardem Patapoutian

1 reference

1 August 2017

Michael Bandell

1 reference

1 August 2017

Jayanti Mathur

1 reference

1 August 2017

Bertrand Coste

1 reference

1 August 2017

Swetha E Murthy

1 reference

1 August 2017

Stuart Cahalan

1 reference

1 August 2017

Juliette Albuisson

1 reference

Madeleine Fénéant-Thibault

1 August 2017

object named as

Madeleine Fénéant-Thibault

1 reference

1 August 2017

Gérard Tertian

1 reference

Jean-Pierre de Jaureguiberry

1 August 2017

object named as

Jean-Pierre de Jaureguiberry

1 reference

1 August 2017

Pierre-Yves Syfuss

1 reference

1 August 2017

Loic Garçon

1 reference

1 August 2017

Fabienne Toutain

1 reference

1 August 2017

Pierre Simon Rohrlich

1 reference

1 August 2017

author name string

Hélène Louis-Dit-Picard

1 reference

1 August 2017

Jean Delaunay

1 reference

1 August 2017

Véronique Picard

1 reference

1 August 2017

language of work or name

English

0 references

publication date

1 January 2013

1 reference

1 August 2017

published in

Nature Communications

1 reference

1 August 2017

1 reference

1 August 2017

page(s)

1884

1 reference

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

1 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674779

Missense mutations in the ABCB6 transporter cause dominant familial pseudohyperkalemia.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674779

Loss of the integrin-activating transmembrane protein Fam38A (Piezo1) promotes a switch to a reduced integrin-dependent mode of cell migration

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674779

Gating the mechanical channel Piezo1: a comparison between whole-cell and patch recording

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674779

Piezo1: properties of a cation selective mechanical channel

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674779

Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674779

Crowding induces live cell extrusion to maintain homeostatic cell numbers in epithelia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674779

Piezo proteins are pore-forming subunits of mechanically activated channels

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674779

The role of Drosophila Piezo in mechanical nociception

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674779

Piezo1 and Piezo2 Are Essential Components of Distinct Mechanically Activated Cation Channels

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674779

Hypoxia activates a Ca2+-permeable cation conductance sensitive to carbon monoxide and to GsMTx-4 in human and mouse sickle erythrocytes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674779

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674779

Hereditary stomatocytosis and cation-leaky red cells--recent developments.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674779

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674779

Red cell membrane: past, present, and future

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674779

The monovalent cation leak in overhydrated stomatocytic red blood cells results from amino acid substitutions in the Rh-associated glycoprotein

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674779

A stomatin-domain protein essential for touch sensation in the mouse

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674779

Ion transport pathology in the mechanism of sickle cell dehydration

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674779

Hemolytic disease due to membrane ion channel disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674779

The hereditary stomatocytoses: genetic disorders of the red cell membrane permeability to monovalent 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=3674779

The Gárdos channel: a review of the Ca2+-activated K+ channel in human erythrocytes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674779

Genomewide search for dehydrated hereditary stomatocytosis (hereditary xerocytosis): mapping of locus to chromosome 16 (16q23-qter).

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674779

Osmotic gradient ektacytometry: comprehensive characterization of red cell volume and surface maintenance

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674779

Mild dehydrated hereditary stomatocytosis revealed by marked hepatosiderosis

6 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS2899

Refinement of the hereditary xerocytosis locus on chromosome 16q in a large Canadian kindred

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS2899

A second locus mapping to 2q35-36 for familial pseudohyperkalaemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS2899

Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS2899

Early Homo and associated artefacts from Asia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS2899

Stomatin and sensory neuron mechanotransduction.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS2899

Erythrocyte membrane protein destabilization versus clinical outcome in 160 Portuguese Hereditary Spherocytosis patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS2899

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

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674779

Antiphospholipid antibodies in a family with dehydrated hereditary stomatocytosis

27 October 2018

1 reference

12 December 2020

A stomatin-like protein necessary for mechanosensation in C. elegans

1 reference

12 December 2020

Genetic heterogeneity of hereditary stomatocytosis syndromes showing pseudohyperkalemia

1 reference

12 December 2020

Dehydrated hereditary stomatocytosis mimicking familial hyperkalaemic hypertension: clinical and genetic investigation

1 reference

12 December 2020

[Recurrence of thromboembolic disease after splenectomy for hereditary xerocytosis]

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1038/NCOMMS2899

1 reference

Dimensions Publication ID

1 August 2017

0 references

0 references

1 reference

1 August 2017

1 reference