(Q50440416)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26178367%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26178367%20AND%20SRC:MED&resulttype=core&format=json

dehydrated hereditary stomatocytosis

19 February 2020

main subject

1 reference

based on heuristic

inferred from title

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

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26178367%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

Immacolata Andolfo

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26178367%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

Francesco Manna

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26178367%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

Gianluca De Rosa

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26178367%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

author name string

Boris E Shmukler

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26178367%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

Antonella Gambale

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26178367%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

Giuseppina Vitiello

6

1 reference

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19 February 2020

Carlo Brugnara

8

1 reference

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19 February 2020

Seth L Alper

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26178367%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

L Michael Snyder

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26178367%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

Achille Iolascon

11

1 reference

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19 February 2020

publication date

1 October 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26178367%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Hematology

19 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26178367%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

volume

90

1 reference

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19 February 2020

issue

10

1 reference

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19 February 2020

page(s)

921-926

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26178367%20AND%20SRC:MED&resulttype=core&format=json

Congenital hemolytic anemia with high-sodium, low-potassium red cells. Studies of three generations of a family with a new variant

19 February 2020

cites work

1 reference

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

21 January 2018

1 reference

The molecular basis of hereditary red cell membrane disorders

21 January 2018

1 reference

Mild dehydrated hereditary stomatocytosis revealed by marked hepatosiderosis.

21 January 2018

1 reference

Hereditary xerocytosis revisited

21 January 2018

1 reference

An extreme consequence of splenectomy in dehydrated hereditary stomatocytosis: gradual thrombo-embolic pulmonary hypertension and lung-heart transplantation.

21 January 2018

1 reference

Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Physiological roles of the intermediate conductance, Ca2+-activated potassium channel Kcnn4.

21 January 2018

1 reference

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

21 January 2018

1 reference

Gardos pathway to sickle cell therapies?

21 January 2018

1 reference

Efficacy and safety of the Gardos channel blocker, senicapoc (ICA-17043), in patients with sickle cell anemia

21 January 2018

1 reference

A method and server for predicting damaging missense mutations

21 January 2018

1 reference

South-east asian ovalocytic (SAO) erythrocytes have a cold sensitive cation leak: implications for in vitro studies on stored SAO red cells.

21 January 2018

1 reference

Four new cases of stomatin-deficient hereditary stomatocytosis syndrome: association of the stomatin-deficient cryohydrocytosis variant with neurological dysfunction

21 January 2018

1 reference

Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1

21 January 2018

1 reference

The GPA-dependent, spherostomatocytosis mutant AE1 E758K induces GPA-independent, endogenous cation transport in amphibian oocytes

21 January 2018

1 reference

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

21 January 2018

1 reference

Loss-of-function and gain-of-function phenotypes of stomatocytosis mutant RhAG F65S

21 January 2018

1 reference

Cryohydrocytosis: increased activity of cation carriers in red cells from a patient with a band 3 mutation

21 January 2018

1 reference

Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome

21 January 2018

1 reference

An infant with pseudohyperkalemia, hemolysis, and seizures: cation-leaky GLUT1-deficiency syndrome due to a SLC2A1 mutation.

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Contribution of the KCa3.1 channel-calmodulin interactions to the regulation of the KCa3.1 gating process

21 January 2018

1 reference

Structure of the gating domain of a Ca2+-activated K+ channel complexed with Ca2+/calmodulin

21 January 2018

1 reference

Characterization of the PCMBS-dependent modification of KCa3.1 channel gating

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference