Associated Papers
Genetic Analysis of 23 SNVs of Nine Genes Involved in RBC Membranopathies with the Hematological Parameters of Mexican Patients.
Espinoza-Mata LL et al.
Genetic Testing and Molecular Biomarkers, 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
Rapid change in red cell blood group systems after the main Out of Africa of Homo sapiens.
Mazières S et al.
Scientific Reports, 2025
Genomic characterization of clinically significant blood group variants in Aboriginal Australians.
Jadhao S et al.
Blood Transfusion = Trasfusione Del Sangue, 2024
Hereditary Spherocytosis: Can Next-Generation Sequencing of the Five Most Frequently Affected Genes Replace Time-Consuming Functional Investigations?
Häuser F et al.
International Journal of Molecular Sciences, 2023
Frequency of the DI*A, DI*B and Band 3 Memphis polymorphism among distinct groups in Brazil.
Kaliniczenko A et al.
Hematology, Transfusion and Cell Therapy, 2023
Novel Variant of the SLC4A1 Gene Associated with Hereditary Spherocytosis.
Bogusławska DM et al.
Biomedicines, 2023
Variant spectrum of PIEZO1 and KCNN4 in Japanese patients with dehydrated hereditary stomatocytosis.
Nakahara E et al.
Human Genome Variation, 2023
A large family of hereditary spherocytosis and a rare case of hereditary elliptocytosis with a novel SPTA1 mutation underdiagnosed in Taiwan: A case report and literature review.
Shih YH et al.
Medicine, 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
Cell physiology and molecular mechanism of anion transport by erythrocyte band 3/AE1.
Jennings ML
American Journal of Physiology. Cell Physiology, 2021
The diagnostic protocol for hereditary spherocytosis-2021 update.
Wu Y et al.
Journal of Clinical Laboratory Analysis, 2021
The interactome of the N-terminus of band 3 regulates red blood cell metabolism and storage quality.
Issaian A et al.
Haematologica, 2021
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
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
Evaluation of phenotypic and genotypic features of children with distal kidney tubular acidosis.
Atmis B et al.
Pediatric Nephrology (berlin, Germany), 2020
Genetic modifiers of long-term survival in sickle cell anemia.
Wonkam A et al.
Clinical and Translational Medicine, 2020
Screening and function discussion of a hereditary renal tubular acidosis family pathogenic gene.
Chen L et al.
Cell Death & Disease, 2020
Molecular Simulations of Intact Anion Exchanger 1 Reveal Specific Domain and Lipid Interactions.
De Vecchis D et al.
Biophysical Journal, 2019
Advances in understanding the pathogenesis of red cell membrane disorders.
Iolascon A et al.
British Journal of Haematology, 2019
[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
Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.
Tang D et al.
Scientific Reports, 2018
Primary Autosomal Recessive Distal Renal Tubular Acidosis Caused by a Common Homozygous SLC4A1 Mutation in Two Lao Families.
Park E et al.
Journal of Korean Medical Science, 2018
New insights on hereditary erythrocyte membrane defects.
Andolfo I et al.
Haematologica, 2016
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
The evolutionary origins of Southeast Asian Ovalocytosis.
Paquette AM et al.
Infection, Genetics and Evolution : Journal of Molecular Epidemiology and Evolutionary Genetics in Infectious Diseases, 2015
A novel mutation pattern of kidney anion exchanger 1 gene in patients with distal renal tubular acidosis in Iran.
Hooman N et al.
Iranian Journal of Kidney Diseases, 2015
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
Hereditary spherocytosis due to band 3 deficiency: 15 novel mutations in SLC4A1.
Van Zwieten R et al.
American Journal of Hematology, 2013
A Swiss (εγδβ)⁰-thalassemia patient with a novel 3-Mb deletion associated with mild mental impairment.
Von Kanel T et al.
American Journal of Hematology, 2013
Complex patterns of genomic admixture within southern Africa.
Petersen DC et al.
Plos Genetics, 2013
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
Identification of two novel mutations in the SLC4A1 gene in two unrelated Chinese families with distal renal tubular acidosis.
Zhang Z et al.
Archives of Medical Research, 2012
Molecular Approach for Distal Renal Tubular Acidosis Associated AE1 Mutations.
Vasuvattakul S
Electrolyte & Blood Pressure : E & Bp, 2010
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
Band 3 Edmonton I, a novel mutant of the anion exchanger 1 causing spherocytosis and distal renal tubular acidosis.
Chu C et al.
The Biochemical Journal, 2010
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
Distal renal tubular acidosis in Filipino children, caused by mutations of the anion-exchanger SLC4A1 (AE1, Band 3) gene.
Anacleto FE et al.
Nephron. Physiology, 2010
The mutant erythrocyte band 3 protein in Southeast Asian ovalocytosis does not bind eosin-5-maleimide.
King MJ et al.
International Journal of Laboratory Hematology, 2009