(Q50885324)

24 March 2018

title

Novel mechanisms of PIEZO1 dysfunction in hereditary xerocytosis. (English)

1 reference

24 March 2018

author

Vincent Schulz

4

1 reference

24 March 2018

Sviatoslav N Bagriantsev

13

1 reference

24 March 2018

Theodosia A. Kalfa

14

1 reference

24 March 2018

Elena Gracheva

object named as

Elena O Gracheva

12

0 references

author name string

Edyta Glogowska

1

1 reference

24 March 2018

Eve R Schneider

2

1 reference

24 March 2018

Yelena Maksimova

3

1 reference

24 March 2018

Kimberly Lezon-Geyda

5

1 reference

24 March 2018

John Wu

6

1 reference

24 March 2018

Kottayam Radhakrishnan

7

1 reference

24 March 2018

Siobán B Keel

8

1 reference

24 March 2018

Donald Mahoney

9

1 reference

24 March 2018

Alison M Freidmann

10

1 reference

24 March 2018

Rachel A Altura

11

1 reference

24 March 2018

Patrick G Gallagher

15

1 reference

24 March 2018

language of work or name

English

0 references

publication date

17 July 2017

1 reference

24 March 2018

published in

Blood

1 reference

24 March 2018

volume

130

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24 March 2018

issue

16

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24 March 2018

page(s)

1845-1856

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24 March 2018

Genome-wide association study of red blood cell traits in Hispanics/Latinos: The Hispanic Community Health Study/Study of Latinos.

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Mechanical stretch triggers rapid epithelial cell division through Piezo1.

25 August 2018

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Hemoglobin C trait accentuates erythrocyte dehydration in hereditary xerocytosis

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Piezo1 Channels Are Inherently Mechanosensitive

25 August 2018

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Architecture of the mammalian mechanosensitive Piezo1 channel

25 August 2018

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Piezo1 regulates mechanotransductive release of ATP from human RBCs.

25 August 2018

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

25 August 2018

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Novel Gardos channel mutations linked to dehydrated hereditary stomatocytosis (xerocytosis).

25 August 2018

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

25 August 2018

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Piezo1 links mechanical forces to red blood cell volume

25 August 2018

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25 August 2018

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Piezo proteins: regulators of mechanosensation and other cellular processes

25 August 2018

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Hereditary xerocytosis revisited

25 August 2018

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25 August 2018

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25 August 2018

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Dehydrated stomatocytic anemia due to the heterozygous mutation R2456H in the mechanosensitive cation channel PIEZO1: a case report

25 August 2018

1 reference

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Human PIEZO1: removing inactivation

25 August 2018

1 reference

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

25 August 2018

1 reference

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To shrink or not to shrink.

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5649553

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

25 August 2018

1 reference

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Disorders of red cell volume regulation

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5649553

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

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5649553

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

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5649553

Seventy-five genetic loci influencing the human red blood cell

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5649553

Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5649553

Piezo proteins are pore-forming subunits of mechanically activated channels

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5649553

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

25 August 2018

1 reference

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Osmosensory mechanisms in cellular and systemic volume regulation.

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5649553

Molecular mechanisms of mechanotransduction in mammalian sensory neurons

25 August 2018

1 reference

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Piezo1 and Piezo2 are essential components of distinct mechanically activated cation channels

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5649553

A mechanosensitive ion channel regulating cell volume.

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5649553

Genome-wide association study of hematological and biochemical traits in a Japanese population

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5649553

Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5649553

Sequence variants in three loci influence monocyte counts and erythrocyte volume

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5649553

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

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5649553

Sites of regulated phosphorylation that control K-Cl cotransporter activity

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5649553

In and Out of the ER: Protein Folding, Quality Control, Degradation, and Related Human Diseases

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5649553

Hide and run. Arginine-based endoplasmic-reticulum-sorting motifs in the assembly of heteromultimeric membrane proteins

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5649553

ER transport signals and trafficking of potassium channels and receptors

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5649553

Impaired trafficking of distal renal tubular acidosis mutants of the human kidney anion exchanger kAE1.

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5649553

Analysis of endoplasmic reticulum trafficking signals by combinatorial screening in mammalian cells

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5649553

Trafficking and folding defects in hereditary spherocytosis mutants of the human red cell anion exchanger

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5649553

Inclusion-body beta-thalassemia trait. A form of beta thalassemia producing clinical manifestations in simple heterozygotes.

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5649553

Transporting down the road to dehydration

25 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28716860

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1182/BLOOD-2017-05-786004

1 reference

24 March 2018

0 references

1 reference

24 March 2018