Unraveling the molecular landscape of kAE1: a narrative review. | Unraveling the molecular landscape of kAE1: a narrative review. Mungara P, Waiss M, Hartwig S, Burger D, Cordat E. | 07/11/2024 |
Autosomal dominant distal renal tubular acidosis in two pediatric patients with mutations in the SLC4A1 gene. Can the maximum urinary pCO2 test be normal? | Autosomal dominant distal renal tubular acidosis in two pediatric patients with mutations in the SLC4A1 gene. Can the maximum urinary pCO(2) test be normal? Guerra Hernández NE, Gómez Tenorio C, Méndez Silva LP, Moraleda Mesa T, Escobar LI, Salvador C, Vargas Poussou R, García Nieto VM. | 11/7/2023 |
Impaired trafficking and instability of mutant kidney anion exchanger 1 proteins associated with autosomal recessive distal renal tubular acidosis. | Impaired trafficking and instability of mutant kidney anion exchanger 1 proteins associated with autosomal recessive distal renal tubular acidosis. Deejai N, Sawasdee N, Nettuwakul C, Wanachiwanawin W, Sritippayawan S, Yenchitsomanus PT, Rungroj N., Free PMC Article | 11/5/2022 |
Identification of seven exonic variants in the SLC4A1, ATP6V1B1, and ATP6V0A4 genes that alter RNA splicing by minigene assay. | Identification of seven exonic variants in the SLC4A1, ATP6V1B1, and ATP6V0A4 genes that alter RNA splicing by minigene assay. Zhang R, Chen Z, Song Q, Wang S, Liu Z, Zhao X, Shi X, Guo W, Lang Y, Bottillo I, Shao L. | 04/9/2022 |
Different Involvement of Band 3 in Red Cell Deformability and Osmotic Fragility-A Comparative GP.Mur Erythrocyte Study. | Different Involvement of Band 3 in Red Cell Deformability and Osmotic Fragility-A Comparative GP.Mur Erythrocyte Study. Kuo MS, Chuang CH, Cheng HC, Lin HR, Wang JS, Hsu K., Free PMC Article | 01/22/2022 |
Clinical manifestation and phenotypic analysis of novel gene mutation in 28 Chinese children with hereditary spherocytosis. | Clinical manifestation and phenotypic analysis of novel gene mutation in 28 Chinese children with hereditary spherocytosis. Xie F, Lei L, Cai B, Gan L, Gao Y, Liu X, Zhou L, Jiang J., Free PMC Article | 12/11/2021 |
Structural and functional insights into the mechanism of action of plant borate transporters. | Structural and functional insights into the mechanism of action of plant borate transporters. Saouros S, Mohan TC, Cecchetti C, Lehmann S, Barrit JD, Scull NJ, Simpson P, Alguel Y, Cameron AD, Jones AME, Byrne B., Free PMC Article | 10/23/2021 |
A clinical and experimental study of adult hereditary spherocytosis in the Chinese population. | A clinical and experimental study of adult hereditary spherocytosis in the Chinese population. Xue J, He Q, Xie XJ, Su AL, Cao SB. | 07/17/2021 |
Identification of a novel DI*02(2558T) allele associated with weakened expression of DI2 antigen. | Identification of a novel DI*02(2558T) allele associated with weakened expression of DI2 antigen. Wen J, van den Akker E, Luo G, Jia S, Wei L, Wang Z, van der Schoot CE, Ji Y. | 07/3/2021 |
Genotypic analysis of SLC4A1 A858D mutation in Indian population associated with distal renal tubular Acidosis (dRTA) coupled with hemolytic anemia. | Genotypic analysis of SLC4A1 A858D mutation in Indian population associated with distal renal tubular Acidosis (dRTA) coupled with hemolytic anemia. More TA, Kedar PS. | 03/28/2021 |
Genome-Wide Association for HbA1c in Malay Identified Deletion on SLC4A1 that Influences HbA1c Independent of Glycemia. | Genome-Wide Association for HbA1c in Malay Identified Deletion on SLC4A1 that Influences HbA1c Independent of Glycemia. Chai JF, Kao SL, Wang C, Lim VJ, Khor IW, Dou J, Podgornaia AI, Chothani S, Cheng CY, Sabanayagam C, Wong TY, van Dam RM, Liu J, Reilly DF, Paterson AD, Sim X. | 02/27/2021 |
A Novel Compound Heterozygous Mutation in SLC4A1 Gene Causing Severe Hereditary Spherocytosis and Distal Renal Tubular Acidosis. | A Novel Compound Heterozygous Mutation in SLC4A1 Gene Causing Severe Hereditary Spherocytosis and Distal Renal Tubular Acidosis. Tang X, Guo X, Gao J. | 02/6/2021 |
The kidney anion exchanger 1 affects tight junction properties via claudin-4. | The kidney anion exchanger 1 affects tight junction properties via claudin-4. Lashhab R, Rumley AC, Arutyunov D, Rizvi M, You C, Dimke H, Touret N, Zimmermann R, Jung M, Chen XZ, Alexander T, Cordat E., Free PMC Article | 10/24/2020 |
Non-oxidative band-3 clustering agents cause the externalization of phosphatidylserine on erythrocyte surfaces by a calcium-independent mechanism. | Non-oxidative band-3 clustering agents cause the externalization of phosphatidylserine on erythrocyte surfaces by a calcium-independent mechanism. Koshkaryev A, Livshits L, Pajic-Lijakovic I, Gural A, Barshtein G, Yedgar S. | 08/22/2020 |
Molecular Simulations of Intact Anion Exchanger 1 Reveal Specific Domain and Lipid Interactions. | Molecular Simulations of Intact Anion Exchanger 1 Reveal Specific Domain and Lipid Interactions. De Vecchis D, Reithmeier RAF, Kalli AC., Free PMC Article | 08/13/2020 |
Activation of lncRNA lnc-SLC4A1-1 induced by H3K27 acetylation promotes the development of breast cancer via activating CXCL8 and NF-kB pathway | Activation of lncRNA lnc-SLC4A1-1 induced by H3K27 acetylation promotes the development of breast cancer via activating CXCL8 and NF-kB pathway. Yi T, Zhou X, Sang K, Huang X, Zhou J, Ge L. | 02/8/2020 |
These findings suggest that band 3 and spectrin are potential targets of autoantibodies that may be relevant for P. vivax malaria-associated anemia. | Anti-band 3 and anti-spectrin antibodies are increased in Plasmodium vivax infection and are associated with anemia. Mourão LC, Baptista RP, de Almeida ZB, Grynberg P, Pucci MM, Castro-Gomes T, Fontes CJF, Rathore S, Sharma YD, da Silva-Pereira RA, Bemquerer MP, Braga ÉM., Free PMC Article | 10/26/2019 |
The results suggest that Plasmodium falciparum glutamic acid-rich protein may play a functional role in enhancing the adhesive properties of human erythrocytes by engaging band 3 as a host receptor. | Human erythrocyte band 3 is a host receptor for Plasmodium falciparum glutamic acid-rich protein. Almukadi H, Schwake C, Kaiser MM, Mayer DCG, Schiemer J, Baldwin MR, Hegde S, Lu Y, Hanada T, Chishti AH., Free PMC Article | 10/12/2019 |
A Ser725Arg mutation in Band 3 abolishes transport function and leads to anemia and renal tubular acidosis. | A Ser725Arg mutation in Band 3 abolishes transport function and leads to anemia and renal tubular acidosis. Yang E, Seo-Mayer P, Lezon-Geyda K, Badior KE, Li J, Casey JR, Reithmeier RAF, Gallagher PG., Free PMC Article | 05/18/2019 |
a de novo heterozygous missense mutation previously reported (c.1765C>A, p.Arg589Ser) in the SLC4A1 gene was observed in patient IV. | Five Novel Mutations in Chinese Children with Primary Distal Renal Tubular Acidosis. Zhang R, Wang C, Lang Y, Gao Y, Chen Z, Lu J, Zhao X, Shao L. | 01/26/2019 |
Large-scale simulations showed that the Glycophorin A (GPA) dimer can bridge Band 3 dimers resulting in the dynamic formation of long strands of alternating Band 3 and GPA dimers | Interaction of the human erythrocyte Band 3 anion exchanger 1 (AE1, SLC4A1) with lipids and glycophorin A: Molecular organization of the Wright (Wr) blood group antigen. Kalli AC, Reithmeier RAF., Free PMC Article | 01/19/2019 |
Molecular mechanism for the red blood cell senescence clock mediated by the SLC4A1 structural changes has been summarized. (Review) | Molecular mechanism for the red blood cell senescence clock. Badior KE, Casey JR. | 12/22/2018 |
we show that stomatin modulates the transport activity of AE1 through a direct protein-protein interaction. | Stomatin modulates the activity of the Anion Exchanger 1 (AE1, SLC4A1). Genetet S, Desrames A, Chouali Y, Ripoche P, Lopez C, Mouro-Chanteloup I., Free PMC Article | 11/17/2018 |
SLC4A1 is the most common defective gene in Korean children with Distal Renal Tubular Acidosis. Patients with SLC4A1 mutations show later onset and milder disease severity. Long-term follow-up of hearing ability, renal function, and growth is necessary for patients with dRTA. | Genotype-Phenotype Analysis in Pediatric Patients with Distal Renal Tubular Acidosis. Park E, Cho MH, Hyun HS, Shin JI, Lee JH, Park YS, Choi HJ, Kang HG, Cheong HI. | 11/3/2018 |
this study shows functional importance of PDLIM5 for proper kAE1 membrane residency, as a crucial linker between kidney AE1 and actin cytoskeleton-associated proteins in polarized cells | PDLIM5 links kidney anion exchanger 1 (kAE1) to ILK and is required for membrane targeting of kAE1. Su Y, Hiemstra TF, Yan Y, Li J, Karet HI, Rosen L, Moreno P, Karet Frankl FE., Free PMC Article | 10/27/2018 |