红细胞骨架及其遗传性疾病。 - Suppr

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超能文献

The red cell skeleton and its genetic disorders.

作者信息

Delaunay J, Alloisio N, Morlé L, Pothier B

机构信息

CNRS URA 1171: Génétique Moléculaire de la Membrane Erythrocytaire, Faculté de Médecine Grange - Blanche, Lyon, France.

出版信息

Mol Aspects Med. 1990;11(3):161-241. doi: 10.1016/0098-2997(90)90001-i.

DOI:10.1016/0098-2997(90)90001-i

PMID:2403451

Abstract

摘要

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The red cell skeleton and its genetic disorders.红细胞骨架及其遗传性疾病。

Mol Aspects Med. 1990;11(3):161-241. doi: 10.1016/0098-2997(90)90001-i.

Genetic disorders of the red cell membrane.红细胞膜的遗传性疾病。

Crit Rev Oncol Hematol. 1995 Jun;19(2):79-110. doi: 10.1016/1040-8428(94)00139-k.

Molecular pathology of inherited erythrocyte membrane disorders: hereditary spherocytosis and elliptocytosis.遗传性红细胞膜疾病的分子病理学：遗传性球形红细胞增多症和椭圆形红细胞增多症。

Haematologica. 1992 Jan-Feb;77(1):60-72.

[Hemolytic anemia caused by congenital anomalies of the erythrocyte membrane].[红细胞膜先天性异常所致的溶血性贫血]

J Genet Hum. 1986 Nov;34(5):393-412.

Alteration of the erythrocyte membrane skeletal ultrastructure in hereditary spherocytosis, hereditary elliptocytosis, and pyropoikilocytosis.遗传性球形红细胞增多症、遗传性椭圆形红细胞增多症和热异形红细胞症中红细胞膜骨架超微结构的改变。

Blood. 1990 Jul 1;76(1):198-205.

Genetic disorders of the red cell membranes.红细胞膜的遗传性疾病。

FEBS Lett. 1995 Aug 1;369(1):34-7. doi: 10.1016/0014-5793(95)00460-q.

Genetics of the red cell membrane skeleton.红细胞膜骨架的遗传学

Semin Hematol. 1990 Oct;27(4):290-332.

The elliptocytoses, ovalocytosis and related disorders.椭圆形红细胞增多症、卵形红细胞症及相关疾病。

Baillieres Clin Haematol. 1992 Jan;5(1):187-207. doi: 10.1016/s0950-3536(11)80041-7.

Update on the clinical spectrum and genetics of red blood cell membrane disorders.红细胞膜疾病的临床谱与遗传学进展

Curr Hematol Rep. 2004 Mar;3(2):85-91.

Red cell membrane polypeptides under normal conditions and in genetic disorders.正常条件下及遗传性疾病中的红细胞膜多肽

Transfus Clin Biol. 1995;2(4):207-16. doi: 10.1016/s1246-7820(05)80086-2.

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VPS13 regulates membrane morphogenesis during sporulation in Saccharomyces cerevisiae.VPS13 在酿酒酵母的孢子形成过程中调节膜形态发生。

J Cell Sci. 2012 Jun 15;125(Pt 12):3004-11. doi: 10.1242/jcs.105114. Epub 2012 Mar 22.

Low expression allele alpha LELY of red cell spectrin is associated with mutations in exon 40 (alpha V/41 polymorphism) and intron 45 and with partial skipping of exon 46.红细胞血影蛋白的低表达等位基因α-LELY与第40外显子的突变（α-V/41多态性）、第45内含子的突变以及第46外显子的部分跳跃有关。

J Clin Invest. 1993 May;91(5):2091-6. doi: 10.1172/JCI116432.

An alpha-spectrin mutation responsible for hereditary elliptocytosis associated in cis with the alpha v/41 polymorphism.一种与α v/41多态性顺式相关的、导致遗传性椭圆形红细胞增多症的α-血影蛋白突变。

Hum Genet. 1993 Feb;90(6):641-4. doi: 10.1007/BF00202482.

Spectrin alpha IIa variant in dominant and non-dominant spherocytosis.显性和非显性球形红细胞增多症中的血影蛋白α IIa变体

Hum Genet. 1993 Sep;92(2):153-6. doi: 10.1007/BF00219683.

Immunocytochemical study of membrane skeletons in abnormally shaped erythrocytes as revealed by a quick-freezing and deep-etching method.用快速冷冻和深度蚀刻法对异常形状红细胞膜骨架的免疫细胞化学研究。

Virchows Arch A Pathol Anat Histopathol. 1993;422(1):73-80. doi: 10.1007/BF01605136.

Evidence that expression of Sp alpha I/65 hereditary elliptocytosis is compounded by a genetic factor that is linked to the homologous alpha-spectrin allele.有证据表明，SpαI/65遗传性椭圆形红细胞增多症的表达由一个与同源α-血影蛋白等位基因相关的遗传因素复合而成。

Hum Genet. 1990 Oct;85(6):627-30. doi: 10.1007/BF00193587.

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.血影蛋白鲁昂（β220 - 218），遗传性椭圆形红细胞增多症家族中的一种新型缩短的β链变体。分子缺陷表征为因剪接位点突变导致的外显子跳跃。

J Clin Invest. 1991 Jul;88(1):76-81. doi: 10.1172/JCI115307.

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.SpαV/41：αIV-αV结构域连接处常见的血影蛋白多态性。与位于反式的α-血影蛋白变体导致的遗传性椭圆形红细胞增多症的表达水平相关。

J Clin Invest. 1991 Jun;87(6):2169-77. doi: 10.1172/JCI115250.

A common type of the spectrin alpha I 46-50a-kD peptide abnormality in hereditary elliptocytosis and pyropoikilocytosis is associated with a mutation distant from the proteolytic cleavage site. Evidence for the functional importance of the triple helical model of spectrin.遗传性椭圆形红细胞增多症和热异形红细胞症中常见的一种血影蛋白α I 46 - 50a - kD肽异常与远离蛋白水解切割位点的突变有关。血影蛋白三螺旋模型功能重要性的证据。

J Clin Invest. 1992 Mar;89(3):892-8. doi: 10.1172/JCI115669.

Homozygous 4.1(-) hereditary elliptocytosis associated with a point mutation in the downstream initiation codon of protein 4.1 gene.纯合子4.1（-）遗传性椭圆形红细胞增多症与蛋白4.1基因下游起始密码子的点突变相关。

J Clin Invest. 1992 Nov;90(5):1713-7. doi: 10.1172/JCI116044.

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