Associated Papers
The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.
Wang LY et al.
Innovation (cambridge (mass.)), 2025
Rapid change in red cell blood group systems after the main Out of Africa of Homo sapiens.
Mazières S et al.
Scientific Reports, 2025
Population-specific putative causal variants shape quantitative traits.
Koyama S et al.
Nature Genetics, 2024
Variant spectrum of PIEZO1 and KCNN4 in Japanese patients with dehydrated hereditary stomatocytosis.
Nakahara E et al.
Human Genome Variation, 2023
Clustering of Genetic Anomalies of Cilia Outer Dynein Arm and Central Apparatus in Patients with Transposition of the Great Arteries.
De Ita M et al.
Genes, 2022
A Grammastola spatulata mechanotoxin-4 (GsMTx4)-sensitive cation channel mediates increased cation permeability in human hereditary spherocytosis of multiple genetic etiologies.
Vandorpe DH et al.
Haematologica, 2021
A Case of Severe Hemolytic Disease of the Newborn Caused by Anti-Dia and SLC4A1 Gene Analysis in the Family.
Wang N et al.
Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2021
Identification of a novel DI*02(2558T) allele associated with weakened expression of DI2 antigen.
Wen J et al.
Transfusion, 2020
Next-Generation Sequencing Technologies in Blood Group Typing.
Fürst D et al.
Transfusion Medicine and Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie, 2020
Blood group typing from whole-genome sequencing data.
Paganini J et al.
Plos One, 2020
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.
Takata A et al.
Nature Communications, 2019
Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.
Chen X et al.
Bmc Medical Genetics, 2019
Validated Reference Panel from Renewable Source of Genomic DNA Available for Standardization of Blood Group Genotyping.
Volkova E et al.
The Journal of Molecular Diagnostics : Jmd, 2019
Development and evaluation of a transfusion medicine genome wide genotyping array.
Guo Y et al.
Transfusion, 2019
Two Novel AGXT Mutations Cause the Infantile Form of Primary Hyperoxaluria Type I in a Chinese Family: Research on Missed Mutation.
Lu X et al.
Frontiers in Pharmacology, 2019
Band 3, the human red cell chloride/bicarbonate anion exchanger (AE1, SLC4A1), in a structural context.
Reithmeier RA et al.
Biochimica Et Biophysica Acta, 2016
HLA-DRB1*07:01 allele is primarily associated with the Diego a alloimmunization in a Brazilian population.
Baleotti W et al.
Transfusion, 2014
Distribution of Diego blood group alleles and identification of four novel mutations on exon 19 of SLC4A1 gene in the Chinese Han population by polymerase chain reaction sequence-based typing.
Xu XG et al.
Vox Sanguinis, 2011
Topology models of anion exchanger 1 that incorporate the anti-parallel V-shaped motifs found in the EM structure.
Hirai T et al.
Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire, 2011
Analysis of the SLC4A1 gene in three Mexican patients with hereditary spherocytosis: Report of a novel mutation.
Sánchez-López JY et al.
Genetics and Molecular Biology, 2010
Association of sixty-one non-synonymous polymorphisms in forty-one hypertension candidate genes with blood pressure variation and hypertension.
Kokubo Y et al.
Hypertension Research : Official Journal of the Japanese Society of Hypertension, 2006
The molecular genetics of blood group polymorphism.
Daniels G
Transplant Immunology, 2005
A de novo R589C mutation of anion exchanger 1 causing distal renal tubular acidosis.
Sritippayawan S et al.
Pediatric Nephrology (berlin, Germany), 2003
Novel topology in C-terminal region of the human plasma membrane anion exchanger, AE1.
Zhu Q et al.
The Journal of Biological Chemistry, 2003
Development of a DNA-based genotyping method for the Diego blood group system.
Wu GG et al.
Transfusion, 2002
Hereditary Red Cell Membrane Disorders in Japan: Their Genotypic and Phenotypic Features in 1014 Cases Studied.
Yawata Y et al.
Hematology (amsterdam, Netherlands), 2001
Transmembrane folding of the human erythrocyte anion exchanger (AE1, Band 3) determined by scanning and insertional N-glycosylation mutagenesis.
Popov M et al.
The Biochemical Journal, 1999
[Gene analysis of hereditary red cell membrane disorders].
Kanzaki A
[rinsho Ketsueki] the Japanese Journal of Clinical Hematology, 1998
Total absence of protein 4.2 and partial deficiency of band 3 in hereditary spherocytosis.
Kanzaki A et al.
British Journal of Haematology, 1997
[Polymorphism analysis of G199A, Ncol in ANK1 and Memphis I in SLC4A1 genes in Mexican healthy individuals and subjects affected with hereditary spherocytosis].
Camacho-Torres AL et al.
Gaceta Medica De Mexico, 0