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: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis.
J Med Genet
April 2017
Human Genetics & Genomic Medicine, University of Southampton, Duthie Building (Mailpoint 808), Southampton General Hospital, Southampton, UK.
Background: Deletions in the Xq22.3-Xq23 region, inclusive of , have been associated with a contiguous gene deletion syndrome characterised by lport syndrome with intellectual disability (ental retardation), idface hypoplasia and lliptocytosis (AMME). The extrarenal biological and clinical significance of neighbouring genes to the Alport locus has been largely speculative.
View Article and Find Full Text PDFNew insights into regulation of erythrocyte shape.
Curr Opin Hematol
March 2002
Professor Emeritus, Tokyo Medical and Dental University, School of Medicine, Tokyo, Japan.
Two ideas explain the mechanism of shape regulation: the lipid bilayer coupled theory and the protein network scaffold theory. Recently, several important articles have been published on the former theory. However, many phenomena argue against the theory, including behavior of ghosts and triton shells, various types of manipulation of proteins, and fixation of the shape by the addition of large reagents outside the cell.
View Article and Find Full Text PDFImmunocytochemical study of membrane skeletons in abnormally shaped erythrocytes as revealed by a quick-freezing and deep-etching method.
Virchows Arch A Pathol Anat Histopathol
March 1993
Department of Anatomy, Yamanashi Medical University, Japan.
Ultrastructures of membrane skeletons in spherocytic and elliptocytic erythrocytes were investigated immunocytochemically. Erythrocytes obtained from patients with hereditary spherocytosis (HS) and hereditary elliptocytosis (HE) were split open mechanically to obtain exposed cytoplasmic sides of erythrocyte membranes and were immunostained with anti-spectrin antibody. Replica membranes were prepared by a quick-freezing and deep-etching method and were checked by electron microscopy.
View Article and Find Full Text PDFElliptocytosis associated with an abnormal alpha glycophorin.
Ann Hematol
August 1992
Department of Biochemistry, Hunan Medical University, Changsha, People's Republic of China.
A case of elliptocytosis associated with an undescribed abnormal alpha glycophorin (alpha GP) is reported. Using immunoblotting techniques, a clear-cut minor band 6' was detected emerging just behind the monomer of delta GP (band 6) when probed with anti-alpha GP antiserum. It also reacted with anti-peptide C antiserum, suggesting that this new band with a molecular weight of 24 K is related to the structural alteration of alpha GP and not delta GP.
View Article and Find Full Text PDF[Abnormalities of beta spectrin with hereditary elliptocytosis in mother and child].
Rinsho Ketsueki
February 1992
Department of Pediatrics, Jikei University School of Medicine.
It is generally considered that abnormality of the erythrocyte membrane skeleton co elliptocytes. There are, however, few reports of beta spectrin variants. We found a new variant of beta spectrin in a child and her mother.
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