Associated Papers
Proof-of-principle: nanopore adaptive sampling enables full blood group genome analysis and resolution of hybrid alleles.
Gueuning M et al.
Blood Advances, 2026
Deep Red Blood Cell Proteome Defines the Band 3 N-Terminus Interactome as a Regulator of Hypoxic Adaptation via BLVRB-Dependent S -Nitroso Transfer.
Issaian AV et al.
Biorxiv : the Preprint Server for Biology, 2025
Genetic mutation analysis of hereditary spherocytosis in Guangxi Zhuang Autonomous Region.
Chen X et al.
Journal of Hematopathology, 2023
Mutations and clinical characteristics of dRTA caused by SLC4A1 mutations: Analysis based on published patients.
Yang M et al.
Frontiers in Pediatrics, 2023
Using whole-genome sequencing to characterize clinically significant blood groups among healthy older Australians.
Jadhao S et al.
Blood Advances, 2022
The genomic landscape of blood groups in Indigenous Australians in remote communities.
Jadhao S et al.
Transfusion, 2022
RBCeq: A robust and scalable algorithm for accurate genetic blood typing.
Jadhao S et al.
Ebiomedicine, 2022
The interactome of the N-terminus of band 3 regulates red blood cell metabolism and storage quality.
Issaian A et al.
Haematologica, 2021
Common host variation drives malaria parasite fitness in healthy human red cells.
Ebel ER et al.
Elife, 2021
Mutational Characteristics of Causative Genes in Chinese Hereditary Spherocytosis Patients: a Report on Fourteen Cases and a Review of the Literature.
Wang D et al.
Frontiers in Pharmacology, 2021
A novel loss-of-function mutation of PBK associated with human kidney stone disease.
Nettuwakul C et al.
Scientific Reports, 2020
[Application of High Resolution Melting Curve Analysis in Detection of SLC4A1 Gene Mutation in Patients with Hereditary Spherocytosis].
Ma SY et al.
Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2018
α-thalassaemia combined with hereditary spherocytosis in the same patient.
Li X et al.
Experimental and Therapeutic Medicine, 2018
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
Tropical distal renal tubular acidosis: clinical and epidemiological studies in 78 patients.
Khositseth S et al.
Qjm : Monthly Journal of the Association of Physicians, 2012
Rapid detection of solute carrier family 4, member 1 (SLC4A1) mutations and polymorphisms by high-resolution melting analysis.
Nettuwakul C et al.
Clinical Biochemistry, 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
Recessive distal renal tubular acidosis in Sarawak caused by AE1 mutations.
Choo KE et al.
Pediatric Nephrology (berlin, Germany), 2006
The N-terminal 11 amino acids of human erythrocyte band 3 are critical for aldolase binding and protein phosphorylation: implications for band 3 function.
Perrotta S et al.
Blood, 2005
Splenectomy prolongs in vivo survival of erythrocytes differently in spectrin/ankyrin- and band 3-deficient hereditary spherocytosis.
Reliene R et al.
Blood, 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
Novel AE1 mutations in recessive distal renal tubular acidosis. Loss-of-function is rescued by glycophorin A.
Tanphaichitr VS et al.
The Journal of Clinical Investigation, 1998
[Gene analysis of hereditary red cell membrane disorders].
Kanzaki A
[rinsho Ketsueki] the Japanese Journal of Clinical Hematology, 1998
[Characteristics of red cell membrane disorders in the Japanese population].
Yawata Y
Rinsho Byori. the Japanese Journal of Clinical Pathology, 1997
Novel band 3 variants (bands 3 Foggia, Napoli I and Napoli II) associated with hereditary spherocytosis and band 3 deficiency: status of the D38A polymorphism within the EPB3 locus.
Miraglia del Giudice E et al.
British Journal of Haematology, 1997