Missense mutations in the ABCB6 transporter cause dominant familial pseudohyperkalemia. (Q30424018)

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18 February 2020

title

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

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18 February 2020

1

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Roberta Russo

5

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Maria Rosaria Esposito

7

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author name string

Seth L Alper

2

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Jean Delaunay

3

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Carla Auriemma

4

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Roberta Asci

6

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Alok K Sharma

8

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Boris E Shmukler

9

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Carlo Brugnara

10

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Lucia De Franceschi

11

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Achille Iolascon

12

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publication date

24 November 2012

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American Journal of Hematology

18 February 2020

published in

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volume

88

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issue

1

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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

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

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

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Hemolytic disease due to membrane ion channel disorders

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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

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

21 January 2018

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

21 January 2018

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

21 January 2018

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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

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Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis

21 January 2018

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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

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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

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A method and server for predicting damaging missense mutations

21 January 2018

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

21 January 2018

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

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

21 January 2018

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

21 January 2018

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Structure of a bacterial multidrug ABC transporter

21 January 2018

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Mitochondrial ABC proteins in health and disease

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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ABCB6 mutations cause ocular coloboma

21 January 2018

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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

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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

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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

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A novel flow cytometric HTS assay reveals functional modulators of ATP binding cassette transporter ABCB6

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/AJH.23357

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18 February 2020

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