Associated Papers
Functional Testing of Human Disease Missense Variants in Caenorhabditis elegans by Targeting COQ2 Variants.
Lee GY et al.
Kidney International Reports, 2025
The cation-leaky hereditary stomatocytosis syndromes: A tale of six proteins.
Stewart GW et al.
British Journal of Haematology, 2023
ABCB6 polymorphisms are not overly represented in patients with porphyria.
Farrell CP et al.
Blood Advances, 2022
Case Report: Familial Pseudohyperkalemia Due to Red Blood Cell Membrane Leak in a Chinese Patient.
Xiong W et al.
Frontiers in Medicine, 2022
Molecular insights into the human ABCB6 transporter.
Song G et al.
Cell Discovery, 2021
Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.
Hildebrandt MR et al.
Stem Cell Reports, 2019
Hereditary stomatocytosis: An underdiagnosed condition.
Andolfo I et al.
American Journal of Hematology, 2018
The Molecular Basis for Altered Cation Permeability in Hereditary Stomatocytic Human Red Blood Cells.
Flatt JF et al.
Frontiers in Physiology, 2018
Erythrocytes lacking the Langereis blood group protein ABCB6 are resistant to the malaria parasite Plasmodium falciparum.
Egan ES et al.
Communications Biology, 2018
ABCB6, an ABC Transporter Impacting Drug Response and Disease.
Boswell-Casteel RC et al.
The Aaps Journal, 2017
New insights on hereditary erythrocyte membrane defects.
Andolfo I et al.
Haematologica, 2016
The severity of hereditary porphyria is modulated by the porphyrin exporter and Lan antigen ABCB6.
Fukuda Y et al.
Nature Communications, 2016
Functional characterization of novel ABCB6 mutations and their clinical implications in familial pseudohyperkalemia.
Andolfo I et al.
Haematologica, 2016
Whole-exome sequencing of pancreatic cancer defines genetic diversity and therapeutic targets.
Witkiewicz AK et al.
Nature Communications, 2015
How well do whole exome sequencing results correlate with medical findings? A study of 89 Mayo Clinic Biobank samples.
Middha S et al.
Frontiers in Genetics, 2015
Molecular analysis of immunized Jr(a-) or Lan- patients and validation of a high-throughput genotyping assay to screen blood donors for Jr(a-) and Lan- phenotypes.
Haer-Wigman L et al.
Transfusion, 2014
Alleles of the LAN blood group system: molecular and serologic investigations.
Reid ME et al.
Transfusion, 2014
Screening the expression of ABCB6 in erythrocytes reveals an unexpectedly high frequency of Lan mutations in healthy individuals.
Koszarska M et al.
Plos One, 2014
The ABCB6 mutation p.Arg192Trp is a recessive mutation causing the Lan- blood type.
Saison C et al.
Vox Sanguinis, 2013
Phenotype prediction of non-synonymous single-nucleotide polymorphisms in human ATP-binding cassette transporter genes.
Wang LL et al.
Basic & Clinical Pharmacology & Toxicology, 2011