Ask about this productRelated genes to: SLC4A1 Blocking Peptide
- Gene:
- SLC4A1 NIH gene
- Name:
- solute carrier family 4 member 1 (Diego blood group)
- Previous symbol:
- EPB3, AE1, DI, WD
- Synonyms:
- RTA1A, CD233, FR, SW, WR
- Chromosome:
- 17q21.31
- Locus Type:
- gene with protein product
- Date approved:
- 1988-04-20
- Date modifiied:
- 2019-04-23
Related products to: SLC4A1 Blocking Peptide
Related articles to: SLC4A1 Blocking Peptide
- Hemoglobin A1c (HbA1c) is a critical biomarker used for the diagnosis and management of diabetes. However, nonglycemic genetic variations may affect the accuracy of HbA1c measurements. - Source: PubMed
Publication date: 2026/04/14
Ye LiliRen QianBa TianhaoWu JingHan XueyaoJi Linong - Hereditary spherocytosis (HS) is a genetically and clinically diverse red cell membrane disorder, with limited clinical and molecular data on pediatric patients from India. - Source: PubMed
Publication date: 2026/04/23
Chakraborty AnkitaKalra ManasSachdeva AnupamKotwal JyotiLanger SabinaSaraf AmritaRana PallaviDahiya SurbhiArya VandanaAggarwal SatishPrasad Alpana - - Source: PubMed
Publication date: 2026/04/06
Nunnelee Jordan SZhang XiGodby Richard C - Hereditary spherocytosis (HS) is a hereditary haemolytic anaemia, caused by pathogenic variants in genes encoding red blood cell membrane proteins. Osmotic gradient ektacytometry evaluates red cell deformability and hydration and is increasingly used in the diagnosis of HS. We retrospectively evaluated laboratory data from 233 HS patients focusing on osmotic gradient ektacytometry parameters, including two novel parameters, O-width and O-width. We found that the maximum elongation index (EI), representing the maximum deformability, was decreased in SPTB relative to SLC4A1 and SPTA1 (0.509 vs. 0.557 and 0.564, both p < 0.01). Hydration was most affected in SLC4A1, with the lowest median O (416 mOsm/kg). The novel parameters also showed differences: O-width was higher in SPTB and ANK1 compared to SLC4A1 and SPTA1 (p < 0.05). O-width was lowest in SLC4A1 (92 mOsm/kg). We found that non-missense variants, opposed to missense variants, were associated with decreased deformability in SPTB and ANK1 subgroups as well as with decreased hydration in the ANK1 subgroup specifically (O missense 472 mOsm/kg vs. non-missense 436 mOsm/kg). Lastly, when classifying disease severity based on reticulocyte production index, we found that O, EI, area under the curve (AUC), O-width and O-width differed between mild and moderate patients (all p < 0.05). Our findings suggest that osmotic gradient ektacytometry provides additional information on HS pathophysiology and clinical severity. - Source: PubMed
Publication date: 2026/03/31
de Wilde Jonathan R AKuppens Geoffrey Z LBoesveld Maryse Evan Vuren Annelies Jvan Solinge Wouter WWaanders Esmévan Beers Eduard JRab Minke A EBartels Marijevan Wijk Richard - The aim of this review is to examine the contribution of genomic variation to preeclampsia susceptibility in Africans. PubMed/Medline, Scopus, African Index Medicus and Sabinet African Journals databases were used to access studies conducted in populations of African descent focussing on the genomics of preeclampsia. Studies were selected according to PRISMA guidelines and assessed for quality and risk of bias using the Critical Appraisal Skills Programme (CASP) and Joanna Briggs Institute (JBI) checklists. Meta-analysis was conducted using a random effects model, and publication bias was evaluated using the Eggers test and funnel plots. Grading of Recommendations, Assessment, Development and Evaluation (GRADE) was applied to evaluate the certainty of evidence outcomes. Sixty-six (66) studies reporting on genomics of preeclampsia were retrieved. Forty-four (44) studies had a quality assessment score ≥75%. Vascular pathway genes (, , and ; OR (95% CI): 1.61 (1.38-1.88); : 0.0%, = 0.87; GRADE: low certainty), immune/inflammatory pathway genes (, , , , and ; OR (95% CI): 2.07 (1.68-2.54); : 42.2%, = 0.04; GRADE: low certainty) and cellular homeostasis genes (, , and ; OR (95% CI): 1.65 (1.43-1.91); : 0.0%, = 0.99; GRADE: low certainty) showed pooled effect estimates suggestive of moderate to increased preeclampsia risk. G1 or G2 risk alleles seemed to contribute 1.70-fold (95% CI: 1.39-2.07; : 0.0%; = 0.51; GRADE: low certainty), respectively, to overall preeclampsia risk. Vascular, immune/inflammatory and cellular homeostasis genes may be ideal starting points for future research, and further validation of the role of G1 or G2 risk alleles in preeclampsia may be essential. - Source: PubMed
Publication date: 2026/03/12
Katsukunya Jonathan NDavidson BiancaMnika KhuthalaSoko Nyarai DOsman AyeshaMatjila MushiJones ErikaDandara Collet