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Page 1
The pathophysiology of distal renal tubular acidosis.
Wagner CA, Unwin R, Lopez-Garcia SC, Kleta R, Bockenhauer D, Walsh S. Wagner CA, et al. Nat Rev Nephrol. 2023 Jun;19(6):384-400. doi: 10.1038/s41581-023-00699-9. Epub 2023 Apr 4. Nat Rev Nephrol. 2023. PMID: 37016093 Review.
This defect originates from reduced function of acid-secretory type A intercalated cells. Inherited forms of dRTA are caused by variants in SLC4A1, ATP6V1B1, ATP6V0A4, FOXI1, WDR72 and probably in other genes that are yet to be discovered. ...
This defect originates from reduced function of acid-secretory type A intercalated cells. Inherited forms of dRTA are caused by variants in …
Molecular Genetic Mechanisms of Hereditary Spherocytosis: Current Perspectives.
He BJ, Liao L, Deng ZF, Tao YF, Xu YC, Lin FQ. He BJ, et al. Acta Haematol. 2018;139(1):60-66. doi: 10.1159/000486229. Epub 2018 Jan 22. Acta Haematol. 2018. PMID: 29402830 Free article. Review.
With the widespread use of genetic diagnostic technologies, many novel mutations have been identified in hereditary spherocytosis (HS)-related genes, including SPTA1, SPTB, ANK1, SLC4A1, and EPB42. However, mutations in HS-related genes are dispersed and nonspecific in the …
With the widespread use of genetic diagnostic technologies, many novel mutations have been identified in hereditary spherocytosis (HS)-relat …
Mutations and clinical characteristics of dRTA caused by SLC4A1 mutations: Analysis based on published patients.
Yang M, Sheng Q, Ge S, Song X, Dong J, Guo C, Liao L. Yang M, et al. Front Pediatr. 2023 Jan 26;11:1077120. doi: 10.3389/fped.2023.1077120. eCollection 2023. Front Pediatr. 2023. PMID: 36776909 Free PMC article. Review.
BACKGROUND AND AIMS: The genetic and clinical characteristics of patients with distal renal tubular acidosis (dRTA) caused by SLC4A1 mutations have not been systematically recorded before. Here, we summarized the SLC4A1 mutations and clinical characteristics associa …
BACKGROUND AND AIMS: The genetic and clinical characteristics of patients with distal renal tubular acidosis (dRTA) caused by SLC4A1 …
Organization and Dynamics of the Red Blood Cell Band 3 Anion Exchanger SLC4A1: Insights From Molecular Dynamics Simulations.
Kalli AC, Reithmeier RAF. Kalli AC, et al. Front Physiol. 2022 Feb 25;13:817945. doi: 10.3389/fphys.2022.817945. eCollection 2022. Front Physiol. 2022. PMID: 35283786 Free PMC article. Review.
Molecular dynamics (MD) simulations have provided new insights into the organization and dynamics of the red blood cell Band 3 anion exchanger (AE1, SLC4A1). Band 3, like many solute carriers, works by an alternating access mode of transport where the protein rapidly (10(4 …
Molecular dynamics (MD) simulations have provided new insights into the organization and dynamics of the red blood cell Band 3 anion exchang …
Genotype-phenotype correlation in children with hereditary spherocytosis.
Tole S, Dhir P, Pugi J, Drury LJ, Butchart S, Fantauzzi M, Langer JC, Baker JM, Blanchette VS, Kirby-Allen M, Carcao MD. Tole S, et al. Br J Haematol. 2020 Nov;191(3):486-496. doi: 10.1111/bjh.16750. Epub 2020 May 20. Br J Haematol. 2020. PMID: 32436265 Free article.
In 160/166 (97%) children with HS a disease-causing mutation was identified. Pathogenic variants in ANK1, SPTB, SLC4A1 and SPTA1 were found in 49%, 33%, 13% and 5% of patients. Children with SLC4A1-HS had the mildest phenotype, showing the highest haemoglobin (P &lt …
In 160/166 (97%) children with HS a disease-causing mutation was identified. Pathogenic variants in ANK1, SPTB, SLC4A1 and SPTA1 were …
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. Yi T, et al. Artif Cells Nanomed Biotechnol. 2019 Dec;47(1):3765-3773. doi: 10.1080/21691401.2019.1664559. Artif Cells Nanomed Biotechnol. 2019. PMID: 31556319
Highlights Lnc-SLC4A1-1 was overexpressed in BC tissues, blood and cell lines. Lnc-SLC4A1-1 was transcriptionally activated by H3K27 acetylation. Lnc-SLC4A1-1 interacted with NF-kappaB to promote CXCL8 expression. Lnc-SLC4A1-1 could promote the develop …
Highlights Lnc-SLC4A1-1 was overexpressed in BC tissues, blood and cell lines. Lnc-SLC4A1-1 was transcriptionally activated by …
Novel Variant of the SLC4A1 Gene Associated with Hereditary Spherocytosis.
Bogusławska DM, Kraszewski S, Skulski M, Potoczek S, Kuliczkowski K, Sikorski AF. Bogusławska DM, et al. Biomedicines. 2023 Mar 5;11(3):784. doi: 10.3390/biomedicines11030784. Biomedicines. 2023. PMID: 36979763 Free PMC article.
HS is mainly associated with pathogenic variants of genes encoding defects in five membrane proteins, including anion exchanger 1 encoded by the SLC4A1 gene. In this study, in a family affected with HS, we identified a hitherto unreported AE1 defect, variant p.G720W. ...
HS is mainly associated with pathogenic variants of genes encoding defects in five membrane proteins, including anion exchanger 1 encoded by …
Band 3, the human red cell chloride/bicarbonate anion exchanger (AE1, SLC4A1), in a structural context.
Reithmeier RA, Casey JR, Kalli AC, Sansom MS, Alguel Y, Iwata S. Reithmeier RA, et al. Biochim Biophys Acta. 2016 Jul;1858(7 Pt A):1507-32. doi: 10.1016/j.bbamem.2016.03.030. Epub 2016 Apr 6. Biochim Biophys Acta. 2016. PMID: 27058983 Free article. Review.
The crystal structure of the dimeric membrane domain of human Band 3(1), the red cell chloride/bicarbonate anion exchanger 1 (AE1, SLC4A1), provides a structural context for over four decades of studies into this historic and important membrane glycoprotein. ...
The crystal structure of the dimeric membrane domain of human Band 3(1), the red cell chloride/bicarbonate anion exchanger 1 (AE1, SLC4A1 …
440 results