Hereditary elliptocytosis
A molecular defect of spectrin in a subset of patients with hereditary elliptocytosis Alterations in the alpha subunit domain involved in spectrin self association
... Hereditary elliptocytosis (HE) is a clinically and biochemically heterogenous group of diseases characterized by elliptically shaped erythrocytes and an autosomal dominant mode of ...of hereditary ...
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Sequence and exon intron organization of the DNA encoding the alpha I domain of human spectrin Application to the study of mutations causing hereditary elliptocytosis
... We have determined the exon-intron organization and the nucleotide sequence of the exons and their flanking intronic DNA in cloned genomic DNA that encodes the first 526 amino acids of the alpha I domain of the human red ...
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HEREDITARY ELLIPTOCYTOSIS: AN UNUSUAL PRESENTATION OF HEMOLYSIS IN THE NEWBORN ASSOCIATED WITH TRANSIENT MORPHOLOGIC ABNORMALITIES
... HEMOLYSIS IN THE NEWBORN ASSOCIATED WITH TRANSIENT HEREDITARY ELLIPTOCYTOSIS: AN UNUSUAL PRESENTATION OF. http://pediatrics.aappublications.org/content/44/2/196 the World Wide Web at:[r] ...
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An isoform specific mutation in the protein 4 1 gene results in hereditary elliptocytosis and complete deficiency of protein 4 1 in erythrocytes but not in nonerythroid cells
... alternative translation initiation signals. Late erythroid cells express mainly the downstream initiation site for synthesis of prototypical 80-kD isoforms; nonerythroid cells in addition use an upstream site to encode ...
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Unique alpha spectrin mutant in a kindred with common hereditary elliptocytosis
... We report here a unique variant of alpha spectrin in a kindred with hereditary elliptocytosis. This novel red blood cell-membrane protein migrated to a position between the normal alpha- and beta-spectrin ...
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Homozygous 4 1( ) hereditary elliptocytosis associated with a point mutation in the downstream initiation codon of protein 4 1 gene
... Homozygous 4.1- hereditary elliptocytosis associated with a point mutation in the downstream initiation codon of protein 4.1 gene.. We studied a 43 yr-old Spanish patient with homozygous[r] ...
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Point mutation in the beta spectrin gene associated with alpha I/74 hereditary elliptocytosis Implications for the mechanism of spectrin dimer self association
... I/74 hereditary elliptocytosis (HE) is a subgroup of HE in which patients exhibit an impaired self-association of spectrin dimers and an abnormal proteolytic cleavage of the alpha I domain of ...
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Defective binding of spectrin to ankyrin in a kindred with recessively inherited hereditary elliptocytosis
... of hereditary elliptocytosis inherited in a recessive ...prominent elliptocytosis, decreased erythrocyte thermal stability, an altered limited tryptic peptide pattern of spectrin digested at low ...
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Four different mutations in codon 28 of alpha spectrin are associated with structurally and functionally abnormal spectrin alpha I/74 in hereditary elliptocytosis
... Hereditary elliptocytosis (HE) Sp alpha I/74 is a disorder associated with defective spectrin (Sp) heterodimer self-association and an abnormal tryptic cleavage of the 80-kD alpha I domain of Sp resulting ...
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Deficiency of skeletal membrane protein band 4 1 in homozygous hereditary elliptocytosis Implications for erythrocyte membrane stability
... hereditary elliptocytosis because erythrocytes of both parents and the one minimally affected sibling showed moderate elliptocytosis on smear, whereas those of an unaffected sibling had normal ...
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A novel mobile element inserted in the alpha spectrin gene: spectrin dayton A truncated alpha spectrin associated with hereditary elliptocytosis
... Nonviral retrotransposons, retropseudogenes, and short interspersed nuclear elements (SINEs) are mobile DNA segments capable of transposition to new genomic locations, where they may alter gene expression. De novo ...
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Tryptic digestion of spectrin in variants of hereditary elliptocytosis
... elliptocytosis, were studied. In one patient, whose erythrocytes showed significant fragmentation on heating on 45 degrees C, such preparations generated a remarkably different pattern of polypeptide fragments on ...
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Spectrin Rouen (beta 220 218), a novel shortened beta chain variant in a kindred with hereditary elliptocytosis Characterization of the molecular defect as exon skipping due to a splice site mutation
... Nucleotide sequencing of the proband's amplified genomic DNA corresponding to this region of the fl-spectrin gene revealed a mutation in the 5' donor consensus splice site of the intron [r] ...
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HEREDITARY ELLIPTOCYTOSIS ASSOCIATED WITH INCREASED HEMOLYSIS
... anemia but with normal erythrocyte and hemoglobin values found a shortened life.. span. Lipman53 likewise found a shortened life span in cells from his patient with.[r] ...
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Sp alpha V/41: a common spectrin polymorphism at the alpha IV alpha V domain junction Relevance to the expression level of hereditary elliptocytosis due to alpha spectrin variants located in trans
... polymorphism. It has been observed in 15 different families or individuals of French, North African, and African ancestry in which seven distinct elliptocytogenic alpha-spectrin variants were co-inherited. Whenever the ...
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Spectrin beta chain variant associated with hereditary elliptocytosis
... An electrophoretically fast-moving variant of the spectrin beta-chain was discovered in the erythrocyte membranes of a woman and her father who both exhibited elliptocytosis and mild hemolytic anemia. This ...
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Mutant forms of spectrin alpha subunits in hereditary elliptocytosis
... In this report we add a third unstable spectrin alpha I domain found in three kindreds with HE; alpha IT80 in this type of spectrin is cleaved by mild tryptic digestion to a 50-kD peptid[r] ...
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Modulation of erythrocyte membrane mechanical stability by 2,3 diphosphoglycerate in the neonatal poikilocytosis/elliptocytosis syndrome
... in hereditary elliptocytosis (HE), we resealed erythrocyte (RBC) ghosts from affected children or their elliptocytic parents with 2,3-diphosphoglycerate (DPG) (0-8 mM), a compound that dissociates membrane ...
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Effect of C′1 esterase on vascular permeability in man: studies in normal and complement deficient individuals and in patients with hereditary angioneurotic edema
... specific hereditary deficiency of C¢2 is evidence for the complement-dependent nature of this ...with hereditary angioneurotic edema. Patients with hereditary angioneurotic edema are unresponsive to ...
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Some External Characterizations of SV Rings and Hereditary Rings
... In ring theory, the notion of annihilator is an important tool for studying the structures. Many characterizations and structure theorems can be derived by using this notion. On the other hand, certain classes of rings ...
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