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The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia
TLDR
Cloning the chromosome 19q13 breakpoint in a patient with a reciprocal X;19 chromosome translocation identified mutations in RPS19 in 10 of 40 unrelated DBA patients, including nonsense, frameshift, splice site and missense mutations, as well as two intragenic deletions that suggest a function for R PS19 in erythropoiesis and embryogenesis.
Red cell membrane: past, present, and future.
TLDR
The current concept of the red cell membrane envisions it as a composite structure in which a membrane envelope composed of cholesterol and phospholipids is secured to an elastic network of skeletal proteins via transmembrane proteins.
Mechanical properties of the red cell membrane in relation to molecular structure and genetic defects.
TLDR
Information is provided on how to identify the phytochemical properties of various connective tissue types, including phosphorous, cadmium, and nitrogen, which are important for the formation of Membrane Cohesion.
A molecular mechanism of artemisinin resistance in Plasmodium falciparum malaria
TLDR
Biochemical and cellular evidence is provided that artemisinins are potent inhibitors of Plasmodium falciparum phosphatidylinositol-3-kinase (PfPI3K), revealing an unexpected mechanism of action and present PI3P as the key mediator of art Artemisinin resistance and the sole PfPI3k as an important target for malaria elimination.
Resolving the distinct stages in erythroid differentiation based on dynamic changes in membrane protein expression during erythropoiesis
TLDR
It is found that the accumulation of all of the major transmembrane and all skeletal proteins of the mature red blood cell, except actin, accrued progressively during terminal erythroid differentiation, and accumulation of various adhesion molecules decreased.
Primary role for adherent leukocytes in sickle cell vascular occlusion: A new paradigm
TLDR
These data uncover a previously unsuspected paradigm for the pathogenesis of sickle cell vasoocclusion in which adherent leukocytes play a direct role and suggest that drugs targeting SS RBC–leukocyte or leukocyte–endothelial interactions may prevent or treat the vascular complications of this debilitating disease.
Molecular and Functional Characterization of Protein 4.1B, a Novel Member of the Protein 4.1 Family with High Level, Focal Expression in Brain*
TLDR
Results indicate that 4.1B transcription is selectively regulated among neuronal populations and that alternative splicing regulates expression of 4.2B isoforms possessing critical functional domains typical of other protein 4.
Disorders of red cell membrane
TLDR
A comprehensive understanding of the structural basis for altered membrane function has been developed and the severity of anaemia in both hereditary spherocytosis and elliptocytosis is directly related to extent of membrane surface area loss.
Transgenic knockout mice with exclusively human sickle hemoglobin and sickle cell disease.
To create mice expressing exclusively human sickle hemoglobin (HbS), transgenic mice expressing human alpha-, gamma-, and betaS-globin were generated and bred with knockout mice that had deletions of
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