Outputs (34)

Deletions in the MAL gene result in loss of Mal protein, defining the rare inherited AnWj-negative blood group phenotype (2024)
Journal Article

The genetic background of the high prevalence red blood cell antigen AnWj has remained unresolved since its identification in 1972, despite reported associations with both CD44 and Smyd1 histone methyltransferase. Development of anti-AnWj, which may... Read More about Deletions in the MAL gene result in loss of Mal protein, defining the rare inherited AnWj-negative blood group phenotype.

Complete absence of GLUT1 does not impair human terminal erythroid differentiation (2024)
Journal Article

The Glucose transporter 1 (GLUT1) is one of the most abundant proteins within the erythrocyte membrane and is required for glucose and dehydroascorbic acid (Vitamin C precursor) transport. It is widely recognized as a key protein for red cell structu... Read More about Complete absence of GLUT1 does not impair human terminal erythroid differentiation.

An engineered baculoviral protein and DNA co-delivery system for CRISPR-based mammalian genome editing (2024)
Journal Article

CRISPR-based DNA editing technologies enable rapid and accessible genome engineering of eukaryotic cells. However, the delivery of genetically encoded CRISPR components remains challenging and sustained Cas9 expression correlates with higher off-targ... Read More about An engineered baculoviral protein and DNA co-delivery system for CRISPR-based mammalian genome editing.

Basigin mediation of Plasmodium falciparum red blood cell invasion does not require its transmembrane domain or interaction with monocarboxylate transporter 1 (2024)
Journal Article

Plasmodium falciparum invasion of the red blood cell is reliant upon the essential interaction of PfRh5 with the host receptor protein basigin. Basigin exists as part of one or more multiprotein complexes, most notably through interaction with the mo... Read More about Basigin mediation of Plasmodium falciparum red blood cell invasion does not require its transmembrane domain or interaction with monocarboxylate transporter 1.

Generation of red blood cells from stem cells: Achievements, opportunities and perspectives for malaria research (2022)
Journal Article

Parasites of the genus Plasmodium that cause malaria survive within humans by invasion of, and proliferation within, the most abundant cell type in the body, the red blood cell. As obligate, intracellular parasites, interactions between parasite and... Read More about Generation of red blood cells from stem cells: Achievements, opportunities and perspectives for malaria research.

Missense mutations in PIEZO1, which encodes the Piezo1 mechanosensor protein, define Er red blood cell antigens (2022)
Journal Article

Despite the identification of the high-incidence red cell antigen Era nearly 40 years ago, the molecular background of this antigen, together with the other 2 members of the Er blood group collection, has yet to be elucidated. Whole exome and Sanger... Read More about Missense mutations in PIEZO1, which encodes the Piezo1 mechanosensor protein, define Er red blood cell antigens.

Band 3, an essential red blood cell hub of activity (2021)
Journal Article

The red blood cell (RBC) is a marvel of cellular evolutionary specialization. Whilst often considered simplistic owing to its absence of nuclei and other cellular organelles, this inability to respond transcriptionally and to replenish components thr... Read More about Band 3, an essential red blood cell hub of activity.

Rapid diagnosis of hereditary haemolytic anaemias using automated rheoscopy and supervised machine learning (2020)
Journal Article

Haemolytic anaemias arise when red blood cell (RBC) integrity is compromised, eventually resulting in premature clearance or lysis and leading to anaemia when these effects cannot be sufficiently compensated by the capacity of the bone marrow to prod... Read More about Rapid diagnosis of hereditary haemolytic anaemias using automated rheoscopy and supervised machine learning.

PIEZO1 gain-of-function mutations delay reticulocyte maturation in hereditary xerocytosis (2020)
Journal Article

Dehydrated hereditary stomatocytosis 1 or hereditary xerocytosis (HX, OMIM 194380) is a rare hereditary autosomal dominant disorder characterized by hemolytic anemia and red blood cell (RBC) dehydration. The occurrence of HX is linked with gain-of-fu... Read More about PIEZO1 gain-of-function mutations delay reticulocyte maturation in hereditary xerocytosis.

Reticulocyte and red blood cell deformation triggers specific phosphorylation events (2019)
Journal Article

The capacity to undergo substantial deformation is a defining characteristic of the red blood cell (RBC), facilitating transit through the splenic interendothelial slits and microvasculature. Establishment of this remarkable property occurs during a... Read More about Reticulocyte and red blood cell deformation triggers specific phosphorylation events.