spectrin deficiency

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1. 〈U〉〈C〉(…の)(量・額などの)不足,欠乏《+『of』(『in』)+『名』》 / 〈C〉不足分,不足量,不足額 / 〈C〉(精神・肉体などの)欠陥

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• 1. 赤血球細胞膜の動態および機構 red blood cell membrane dynamics and organization
• 2. 遺伝性球状赤血球症：溶血の機序および原因 hereditary spherocytosis mechanism of hemolysis and pathogenesis
• 3. 遺伝性楕円赤血球症：遺伝学と病因 hereditary elliptocytosis genetics and pathogenesis
• 4. 小児における溶血性貧血の概要 overview of hemolytic anemias in children
• 5. 赤血球表面抗原および細胞骨格タンパク質の異常によるマラリアに対する防御 protection against malaria by abnormalities in red cell surface antigens and cytoskeletal proteins

English Journal

• Siblings with severe pyruvate kinase deficiency and a complex genotype.

• Christensen RD1,2, Yaish HM1, Nussenzveig RH3, Agarwal AM3,4.
• American journal of medical genetics. Part A.Am J Med Genet A.2016 Sep;170(9):2449-52. doi: 10.1002/ajmg.a.37828. Epub 2016 Jun 29.
• Siblings presented as neonates with severe jaundice and transfusion-dependent hemolytic anemia. Next-generation sequencing revealed both to have three heterozygous mutations in the gene encoding erythrocyte pyruvate kinase (PKLR), plus a heterozygous splice mutation in the beta-spectrin gene (SPTB).
• PMID 27354418

• Nuclear alpha spectrin: Critical roles in DNA interstrand cross-link repair and genomic stability.

• Lambert MW1.
• Experimental biology and medicine (Maywood, N.J.).Exp Biol Med (Maywood).2016 Sep;241(15):1621-38. doi: 10.1177/1535370216662714. Epub 2016 Aug 1.
• Non-erythroid alpha spectrin (αIISp) is a structural protein which we have shown is present in the nucleus of human cells. It interacts with a number of nuclear proteins such as actin, lamin, emerin, chromatin remodeling factors, and DNA repair proteins. αIISp's interaction with DNA repair protein
• PMID 27480253

Japanese Journal

• 遺伝性球状赤血球症の病因としてのband 3異常症

• 臨床血液 56(7), 837-845, 2015
• NAID 130005093117

• Hereditary spherocytic elliptocytosisの一家系

• 山口医学 53(4・5), 231-235, 2004-10-31
• NAID 110002774433

• Frequent de novo monoallelic expression of β-spectrin gene (SPTB) in children with hereditary spherocytosis and isolated spectrin deficiency

• Br J Haematol 101, 251-254, 1998
• NAID 30014735510

Related Links

• Molecular basis of spectrin deficiency in beta spectrin Durham ...

We describe a spectrin variant characterized by a truncated beta chain and associated with hereditary spherocytosis. The clinical phenotype consists of a moderate hemolytic anemia with striking spherocytosis and mild spiculation of ...

• spectrin - definition of spectrin in the Medical dictionary - by ...

defect or deficiency of spectrin is associated with hereditary spherocytosis and hereditary elliptocytosis; the principal component of the membrane skeleton of red blood cells. It comprises two units, an alpha unit of MW ...

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関連記事	「deficiency」

「deficiency」

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• n.

• 不足、欠乏、欠失、欠如、欠損、不十分。栄養不足、栄養素欠乏、欠乏症。(遺伝子)(染色体内の)遺伝子欠失
• 欠けているもの、不足している物。不足分。不完全なもの、欠点のあるもの

関

absence, agenesis, dearth, defect, defective, deficient, deficit, delete, deletion, deletional, depletion, deprivation, deprive, lack, miss, missing, morphological defect, paucity, scarce, scarcity, starve