Aka: Hereditary Spherocytosis , Minkowski-Chauffard syndrome. These images are a random sampling from a Bing search on the term "Hereditary Spherocytosis. Search Bing for all related images. Started in , this collection now contains interlinked topic pages divided into a tree of 31 specialty books and chapters. Content is updated monthly with systematic literature reviews and conferences. Although access to this website is not restricted, the information found here is intended for use by medical providers.
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Gallagher PG, Glader B. Hereditary spherocytosis, hereditary elliptocytosis, and other disorders associated with abnormalities of the erythrocyte membrane. En: Wintrobe's Clinical Hematology. The red blood cell membrane and its disorders: Hereditary spherocytosis, elliptocytosis, and related diseases. New York: McGraw-Hill; Lipid microdomains, lipid translocation and the organization of intracellular membrane transport.
Mol Membr Biol. Erythrocyte detergent-resistant membrane proteins: their characterization and selective uptake during malarial infection. Mohandas N, Gallagher P. Red cell membrane: past, present, and future.
Shape and biomechanical characteristics of human red blood cells in health and disease. MRS Bull. In-depth analysis of the membrane and cytosolic proteome of red blood cells. MAPU: Maxplanck unified database of organellar, cellular, tissue and body fluid proteomes. Nucleic Acids Res.
Electrophoretic analysis of the major polypeptides of the human erythrocyte membrane. Imaging of the diffusion of single band 3 molecules on normal and mutant erythrocytes.
Integral protein linkage and the bilayerskeletal separation energy in red blood cells. Biophys J. Structures of the spectrin-ankyrin interaction binding domains. The structure of the ankyrin-binding site of beta-spectrin reveals how tandem spectrin-repeats generate unique ligand-binding properties.
Protein 4. Blood Cell Molecules Dis. Biochem J. Ipsaro JJ, Mondrag A. Red Cells, Iron and erythropoiesis structural basis for spectrin recognition by ankyrin. The sensing of poorly deformable red blood cells by the human spleen can be mimicked in vitro. Eadie-Hofstee analysis of red blood cell deformability.
Clin Hemorheol Microcirc. Chakravarty S, Rizvi SI. Circadian modulation of sodium-potassium ATPase and sodium- proton exchanger in human erythrocytes: in vitro effect of melatonin. Cell Mol Biol. Volume regulation and KCl cotransport in reticulocyte populations of sickle and normal red blood cells.
Blood Cells Mol Dis. Regulation of K-Cl cotransport: From function to genes. J Membr Biol. Carbrey JM, Agre P. Discovery of the aquaporins and development of the field. Handb Exp Pharmacol. The water channel aquaporin-1 partitions into exosomes during reticulocyte maturation: implication for the regulation of cell volumen. Hydrogen ion dynamics in human red blood cells. J Physiol. Temperature -and hydrationdependent internal dynamics of stripped human erythrocyte vesicles studied by incoherent neutron scattering.
Biochim Biophys Acta. Erythrocyte membrane protein analysis by sodium dodecyl sulphate-capillary gel electrophoresis in the diagnosis of hereditary spherocytosis.
Clin Chem Lab Med. Proteomic identification of erythrocyte membrane protein deficiency in hereditary spherocytosis. Mol Biol Rep. DOI: Iolascon A, Avvisati RA. Hereditary spherocytosis. J Health Popul Nutr. B-spectrinBari: a truncated b-chain responsible for dominant hereditary spherocytosis.
Novel beta-spectrin mutations in hereditary spherocytosis associated with decreased levels of mRNA. Br J Haematol. Ann Hematol. A novel ENU-generated truncation mutation lacking the spectrin-binding and Cterminal regulatory domains of Ank1 models severe hemolytic hereditary spherocytosis. Experimental Hematology. Mutation of a barrier insulator in the human ankyrin-1 gene is associated with hereditary spherocytosis.
J Clin Invest. Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3.
Band 3 mutations, distal renal tubular acidosis, and Southeast Asian ovalocytosis. Kidney Int. Genet Mol Biol. Band 3 Edmonton I, a novel mutant of the anion exchanger 1 causing spherocytosis and distal renal tubular acidosis. An alanineto- threonine substitution in protein 4. Characteristic features of the genotype and phenotype of hereditary spherocytosis in the Japanese population.
Int J Hematol. Investigating the key membrane protein changes during in vitro erythropoiesis of protein 4. Partial splenectomy for hereditary spherocytosis. Pediatr Clin N Am. High frequency of de novo mutations in ankyrin gene ANK1 in children with hereditary spherocytosis. J Pediatr. Frequent de novo monoallelic expression of beta-spectrin gene SPTB in children with hereditary spherocytosis and isolated spectrin deficiency.
Erythrocyte membrane protein destabilization versus clinical outcome in Portuguese Hereditary Spherocytosis patients. Variable clinical severity of hereditary spherocytosis: Relation to erythrocytic spectrin concentration, osmotic fragility, and autohemolysis. Hereditary spherocytosis and hereditary elliptocytosis: aberrant protein sorting during erythroblast enucleation.
Erythropoiesis versus inflammation in hereditary spherocytosis clinical outcome. Clin Biochem.
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Revista Cubana Hematol Inmunol Hemoter ;18 1 The Italian survey on hereditary spherocytosis. Int J Pediatr Hematol Oncol ; 2: 43— Blood Cells Mol Dis ; —
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Gallagher PG, Glader B. Hereditary spherocytosis, hereditary elliptocytosis, and other disorders associated with abnormalities of the erythrocyte membrane. En: Wintrobe's Clinical Hematology. The red blood cell membrane and its disorders: Hereditary spherocytosis, elliptocytosis, and related diseases. New York: McGraw-Hill; Lipid microdomains, lipid translocation and the organization of intracellular membrane transport. Mol Membr Biol.