(Q30424018)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23180570%20AND%20SRC:MED&resulttype=core&format=json

18 February 2020

title

Missense mutations in the ABCB6 transporter cause dominant familial pseudohyperkalemia (English)

1 reference

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18 February 2020

1

1 reference

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18 February 2020

Roberta Russo

5

1 reference

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18 February 2020

Maria Rosaria Esposito

7

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18 February 2020

author name string

Seth L Alper

2

1 reference

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18 February 2020

Jean Delaunay

3

1 reference

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18 February 2020

Carla Auriemma

4

1 reference

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18 February 2020

Roberta Asci

6

1 reference

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18 February 2020

Alok K Sharma

8

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18 February 2020

Boris E Shmukler

9

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18 February 2020

Carlo Brugnara

10

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18 February 2020

Lucia De Franceschi

11

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18 February 2020

Achille Iolascon

12

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18 February 2020

publication date

24 November 2012

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American Journal of Hematology

18 February 2020

published in

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18 February 2020

volume

88

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18 February 2020

issue

1

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18 February 2020

page(s)

66-72

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Familial pseudohyperkalaemia. A new syndrome

18 February 2020

cites work

1 reference

Altered erythrocyte cation permeability in familial pseudohyperkalaemia

21 January 2018

1 reference

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

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

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

21 January 2018

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21 January 2018

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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

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

Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis

21 January 2018

1 reference

Shifting the paradigm: the putative mitochondrial protein ABCB6 resides in the lysosomes of cells and in the plasma membrane of erythrocytes

21 January 2018

1 reference

ABCB6 is dispensable for erythropoiesis and specifies the new blood group system Langereis

21 January 2018

1 reference

Four pedigrees of the cation-leaky hereditary stomatocytosis class presenting with pseudohyperkalaemia. Novel profile of temperature dependence of Na+-K+ leak in a xerocytic form.

21 January 2018

1 reference

A method and server for predicting damaging missense mutations

21 January 2018

1 reference

Regulation of divalent metal transporter 1 (DMT1) non-IRE isoform by the microRNA Let-7d in erythroid cells.

21 January 2018

1 reference

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

21 January 2018

1 reference

Evaluation of comparative protein modeling by MODELLER

21 January 2018

1 reference

GROMACS: fast, flexible, and free

21 January 2018

1 reference

PROCHECK: a program to check the stereochemical quality of protein structures

21 January 2018

1 reference

MOLMOL: a program for display and analysis of macromolecular structures

21 January 2018

1 reference

Molecular modeling of the human multidrug resistance protein 1 (MRP1/ABCC1).

21 January 2018

1 reference

Structure of P-glycoprotein reveals a molecular basis for poly-specific drug binding

21 January 2018

1 reference

Structure of a bacterial multidrug ABC transporter

21 January 2018

1 reference

Mitochondrial ABC proteins in health and disease

21 January 2018

1 reference

Role of transferrin receptor and the ABC transporters ABCB6 and ABCB7 for resistance and differentiation of tumor cells towards artesunate

21 January 2018

1 reference

MTABC3, a novel mitochondrial ATP-binding cassette protein involved in iron homeostasis

21 January 2018

1 reference

Human ABC transporter isoform B6 (ABCB6) localizes primarily in the Golgi apparatus

21 January 2018

1 reference

ABCB6 mutations cause ocular coloboma

21 January 2018

1 reference

Mutant-specific gene programs in the zebrafish

21 January 2018

1 reference

ATP-dependent mitochondrial porphyrin importer ABCB6 protects against phenylhydrazine toxicity.

21 January 2018

1 reference

The CpG dinucleotide and human genetic disease

21 January 2018

1 reference

Critical roles for the COOH-terminal NITY and RGT sequences of the integrin beta3 cytoplasmic domain in inside-out and outside-in signaling

21 January 2018

1 reference

Molecular models of the open and closed states of the whole human CFTR protein

21 January 2018

1 reference

UMD-CFTR: a database dedicated to CF and CFTR-related disorders

21 January 2018

1 reference

Crystal structure of a heterodimeric ABC transporter in its inward-facing conformation

21 January 2018

1 reference

Conserved intramolecular disulfide bond is critical to trafficking and fate of ATP-binding cassette (ABC) transporters ABCB6 and sulfonylurea receptor 1 (SUR1)/ABCC8

21 January 2018

1 reference