Unravelling the genetic and phenotypic heterogeneity of SPTA1 gene variants in Hereditary Elliptocytosis and Hereditary Pyropoikilocytosis patients using next-generation sequencing.
A Novel alpha-Spectrin Pathogenic Variant in Trans to alpha-Spectrin LELY Causing Neonatal Jaundice With Hemolytic Anemia From Hereditary Pyropoikilocytosis Coexisting With Gilbert Syndrome.
novel compound heterozygous mutations in the SPTA1 gene (c.3897-1G>C and c.5029G>A) may be responsible for the clinical manifestations of the described neonatal patient with HS
We identified two unrelated sickle cell disease patients with unusually severe clinical and laboratory phenotype that were found to carry the hereditary elliptocytosis-associated alpha-spectrin mutation c.460_462dupTTG (p.L155dup)
Novel mutations in SPTA1 and SPTB identified by whole exome sequencing in eight Thai families with hereditary pyropoikilocytosis presenting with severe fetal and neonatal anaemia.
a novel HE case with a His54Pro mutation in the SPTA1 gene was reported. The results suggested that the His54Pro mutation influenced the role of erythrocyte membrane proteins without reducing its level of expression.
The authors show that SUB1-mediated processing of MSP1 is important for parasite viability the processing modifies the secondary structure of MSP1 and activates its capacity to bind spectrin.
The authors demonstrate that the initial vacuolar membrane around internalized Babesia divergens is formed from protein and lipid components of the red blood cells plasma membrane including band 3 glycophorin A and spectrin.
The common hereditary elliptocytosis-associated alpha-spectrin leucine260proline mutation perturbs erythrocyte membranes by stabilizing spectrin in the closed dimer conformation.
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