This review concerns a series of dominantly inherited haemolytic anaemias in which the membrane of the erythrocyte 'leaks' the univalent cations, compromising the osmotic stability of the cell. The majority of the conditions are explained by mutations in one of six genes, coding for multispanning membrane proteins of different structure and function. These are: RhAG, coding for an ammonium carrier; SLC4A1, coding for the band 3 anion exchanger; PIEZO1, coding for a mechanosensitive cation channel; GLUT1, coding for a glucose transporter; KCNN4, coding for an internal-calcium-activated potassium channel; and ABCB6, coding for a porphyrin transporter. This review describes the five clinical syndromes associated with genetic defects in these genes and their variable genotype/phenotype relationships.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1111/bjh.19093 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
miR-32533 Reduces Cognitive Impairment and Amyloid-β Overload by Targeting CREB5-Mediated Signaling Pathways in Alzheimer's Disease.
Adv Sci (Weinh)
January 2025
Institute of Medicinal Biotechnology, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, 100050, P. R. China.
MicroRNAs (miRNAs) are associated with amyloid-β (Aβ) dysmetabolism, a pivotal factor in the pathogenesis of Alzheimer's disease (AD). This study unveiled a novel miRNA, microRNA-32533 (miR-32533), featuring a distinctive base sequence identified through RNA sequencing of the APPswe/PSEN1dE9 (APP/PS1) mouse brain. Its role and underlying mechanisms were subsequently explored.
View Article and Find Full Text PDFHypotensive Episodes Identified on 24-Hour Ambulatory Blood Pressure and Impaired Cognitive Function: Insights From the SPRINT Study.
Hypertension
January 2025
Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA (W.Z., D.H., M.A.M., Y.M.).
Background: Hypotensive episodes detected by 24-hour ambulatory blood pressure (BP) monitoring capture daily cumulative hypotensive stress and could be clinically relevant to cognitive impairment, but this relationship remains unclear.
Methods: We included participants from the Systolic Blood Pressure Intervention Trial (receiving intensive or standard BP treatment) who had 24-hour ambulatory BP monitoring measured near the 27-month visit and subsequent biannual cognitive assessments. We evaluated the associations of hypotensive episodes (defined as systolic BP drops of ≥20 mm Hg between 2 consecutive measurements that reached <100 mm Hg) and hypotensive duration (cumulative time of systolic BP <100 mm Hg) with subsequent cognitive function using adjusted linear mixed models.
Characteristics and phylogenetic analysis of the complete chloroplast genome of Hance 1866 from the family Rosaceae.
Mitochondrial DNA B Resour
January 2025
Department of Chinese Materia Medica, Changchun Sci-Tech University, Changchun, PR China.
Hance is an important plant owing to its medicinal root and edible fruit, and extensively distributed in China. In this study, we reported the complete chloroplast genome of . The chloroplast genome was 156,335 bp in size with the overall GC content of 37.
View Article and Find Full Text PDFThe complete chloroplast genome sequence of Hook.f.1890 R.W.Bouman, 2022 (Phyllanthaceae).
Mitochondrial DNA B Resour
January 2025
College of Pharmacy, Dali University, Dali, China.
, a significant folk medicinal plant, is utilized to treat a variety of ailments. In this study, we reported the complete chloroplast genome sequence of this species. The length of the complete chloroplast genome was 155,810 bp, included a pair of inverted repeat (IR) regions (26,340 bp), a large single-copy region (LSC, 84,853 bp), and a small single-copy region (SSC, 18,277 bp).
View Article and Find Full Text PDFAssessment of the magnitude, economic impact, and factors associated with expired veterinary pharmaceuticals in animal health facilities in South Wollo, Ethiopia.
Front Vet Sci
January 2025
Department of Veterinary Pathobiology, College of Veterinary Medicine and Animal Sciences, University of Gondar, Gondar, Ethiopia.
Background: The issue of veterinary pharmaceutical expiration is a significant concern in animal health facilities globally. The existence of veterinary pharmaceutical expiration can be mainly associated with inadequate inventory control, store management, and a lack of effective pharmaceutical regulatory policies and guidelines. Hence, the study aimed to evaluate expired veterinary pharmaceuticals' scope, economic impact, and contributing factors.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!