Blood groups and diseases associated with inherited abnormalities of the red blood cell membrane

Transfusion Medicine Reviews

Volumn 14, Issue 4, 2000, Pages 364-374

  Yazdanbakhsh, K ^a   Lomas Francis, C ^a   Reid, M E ^a  

^a NEW YORK BLOOD CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD GROUP ANTIGEN; CELL MEMBRANE PROTEIN; GLYCOPHORIN; GLYCOPHORIN C;

ACANTHOCYTOSIS; BLOOD GROUP; CYTOSKELETON; DISEASE ASSOCIATION; ERYTHROCYTE DISORDER; ERYTHROCYTE MEMBRANE; HEREDITARY ELLIPTOCYTOSIS; HEREDITARY SPHEROCYTOSIS; HUMAN; HUMAN CELL; PATHOGENESIS; REVIEW;

EID: 0033787742     PISSN: 08877963     EISSN: None     Source Type: Journal    
DOI: 10.1053/tmrv.2000.16232     Document Type: Article

References (118)

1. Terminology for red cell surface antigens: Oslo report
2. Insights into the structure and function of membrane polypeptides carrying blood group antigens
3. The influence of membrane skeleton on red cell deformability, membrane material properties, and shape
4. Structure and function of the cytoplasmic domain of band 3: Center of erythrocyte membrane-peripheral protein interactions
5. Mapping the ankyrin-binding site of the human erythrocyte anion exchanger
6. Interactions between protein 4.1 and band 3: An alternative binding site for an element of the membrane skeleton
7. The structure and function of band 3 (AE1): Recent developments
8. Topology of the membrane domain of human erythrocyte anion exchange protein, AE1
9. Mapping the ends of transmembrane segments in a polytopic membrane protein: Scanning N-glycosylation mutagenesis of extracytosolic loops in the anion exchanger, band 3
10. Cloning and characterization of band 3, the human erythrocyte anion-exchange protein (AE1)
11. The complete amino acid sequence of the human erythrocyte membrane anion-transport protein deduced from the cDNA sequence
12. Structure of branched lactosaminoglycan, the carbohydrate moiety of band 3 isolated from adult human erythrocytes
13. Characterization of seven low incidence blood group antigens carried by erythrocyte band 3 protein
14. Terminology for blood group antigens and genes: Historical origins and guidelines in the new millenium
15. 854 → Leu
16. Changes in the blood group Wright antigens are associated with a mutation at amino acid 658 in human erythrocyte band 3: A site of interaction between band 3 and glycophorin A under certain conditions
17. Contribution of MNS to the study of glycophorin A and glycophorin B
18. Glycophorin A facilitates the expression of human band 3-mediated anion transport in Xenopus oocytes
19. The effects of glycophorin A on the expression of the human red cell anion transporter (band 3) in Xenopus oocytes
20. Role of N-glycosylation in the expression of human band 3-mediated anion transport
21. Human erythrocyte band 3 polymorphism (band 3 Memphis): Characterization of the structural modification (Lys 56 - Glu) by protein chemistry methods
22. Band 3 Memphis: A widespread polymorphism with abnormal electrophoretic mobility of erythrocyte band 3 protein caused by substitution AAG-GAG (Lys - Glu) in codon 56
23. A new variant of the anion transport protein in human erythrocytes
24. a) blood group antigen
25. 2DIDS (4,4'-diisothiocyanodihydrostilbene-2,2'-disulfonic acid) molecule
26. Hereditary sperocytosis with total absence of band 3 in a baby with mutation Coimbra (V488M) in the homozygous state
27. Defective anion transport and marked spherocytosis with membrane instability caused by hereditary total deficiency of red cell band 3 in cattle due to a nonsense mutation
28. Anion exchanger 1 (band 3) is required to prevent erythrocyte membrane surface loss but not to form the membrane skeleton
29. Targeted disruption of the murine erythroid band 3 gene results in spherocytosis and severe haemolytic anaemia despite a normal membrane skeleton
30. Red blood cell membrane disorders
31. Characterization of 13 novel band 3 gene defects in hereditary spherocytosis with band 3 deficiency
32. Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis
33. Uniquely higher incidence of isolated or combined deficiency of band 3 and/or band 4.2 as the pathogenesis of autosomal dominantly inherited hereditary spherocytosis in the Japanese population
34. Mutations of conserved arginines in the membrane domain of erythroid band 3 lead to a decrease in membrane-associated band 3 and to the phenotype of hereditary spherocytosis
35. Hereditary spherocytosis with band 3 deficiency: Association with a nonsense mutation of the band 3 gene (Allele Lyon), and aggravation by a low-expression allele occurring in trans (Allele Genas)
36. + countertransport and an abnormal renal bicarbonate handling
37. A nonsense mutation in the erythrocyte band 3 gene associated with decreased mRNA accumulation in a kindred with dominant hereditary spherocytosis
38. Structure-function relationships of band 3 variants
39. Molecular genetics of hereditary elliptocytosis and hereditary spherocytosis
40. Heterogenous band 3 deficiency in hereditary spherocytosis related to different band 3 gene defects
41. Duplication of 10 nucleotides in the erythroid band 3 (AE1) gene in a kindred with hereditary spherocytosis and band 3 protein deficiency (band 3PRAGUE)
42. Deletion in erythrocyte band 3 gene in malaria-resistant Southeast Asian ovalocytosis
43. Basis of unique red cell membrane properties in hereditary ovalocytosis
44. Molecular basis for membrane rigidity of hereditary ovalocytosis: A novel mechanism involving the cytoplasmic domain of band 3
45. The homozygous state for the band 3 protein mutation in Southeast Asian Ovalocytosis may be lethal
46. Molecular characterization of the band 3 protein from Southeast Asian ovalocytes
47. Ovalocytosis and cerebral malaria
48. Selective depression of blood group antigens associated with hereditary ovalocytosis among Melanesians
49. Monoclonal antibodies recognizing epitopes on the extracellular face and intracellular N-terminus of the human erythrocyte anion transporter (band 3) and their application to the analysis of South East Asian ovalocytes
50. Functional factors in the red cell membrane: Interactions between the membrane and its underlying skeleton
51. Molecular basis of altered red blood cell membrane properties in Southeast Asian ovalocytosis: Role of the mutant band 3 protein in band 3 oligomerization and retention by the membrane skeleton
52. Aggregation of band 3 in hereditary ovalocytic red blood cell membranes: Electron microscopy and protein rotational diffusion studies
53. South-east Asian Ovalocytic (SAO) erythrocytes have a cold sensitive cation leak: Implications for studies of in vitro invasion of stored SAO red cells by Plasmodium falciparum malarial parasites
54. Invasion of hereditary ovalocytes by Plasmodium falciparum in vitro and its relation to intracellular ATP concentration
55. Congenital haemolytic anaemia in a low birth weight infant due to congenital stomatocytosis
56. Band 3 HT, a human red-cell variant associated with acanthocytosis and increased anion transport, carries the mutation Pro-868 → Leu in the membrane domain of band 3
57. Two individuals with elliptocytic red cells apparently lack three minor erythrocyte membrane sialoglycoproteins
58. Structural relationships between human erythrocyte sialoglycoproteins beta and gamma and abnormal sialoglycoproteins found in certain rare human erythrocyte variants lacking the Gerbich blood-group antigen(s)
59. A family demonstrating inheritance of the Leach phenotype: A Gerbich-negative phenotype associated with elliptocytosis
60. Leach type Ge- red cells and elliptocytosis
61. A second family demonstrating inheritance of the Leach phenotype
62. A novel human alloantibody in the Gerbich system
63. Molecular basis for elliptocytosis associated with glycophorin C and D deficiency in the Leach phenotype
64. Rearrangements of the red-cell membrane glycophorin C (sialoglycoprotein β) gene: A further study of alterations in the glycophorin C gene
65. Glycophorins C and D are generated by the use of alternative translation initiation sites
66. Evidence that red blood cell protein p55 may participate in the skeleton-membrane linkage that involves protein 4.1 and glycophorin C
67. Localisation of the protein 4.1-binding site on human erythrocyte glycophorins C and D
68. Glycophorin C content of human erythrocyte membrane is regulated by protein 4.1
69. Identification of a functional role for human erythrocyte sialoglycoproteins beta and gamma
70. Biochemistry and molecular cloning analysis of human red cell sialoglyco proteins that carry Gerbich blood group antigens
71. Gerbich reactivity in 4.1 (-) hereditary elliptocytosis and protein 4.1 level in blood group Gerbich deficiency
72. The Rh blood group system: A review
73. The human Rh50 glycoprotein gene: Structural organization and associated splicing defect resulting in Rh(null) disease
74. Molecular insights into the Rh protein family and associated antigens
75. Candidate gene acting as a suppressor of the RH locus in most cases of Rh-deficiency
76. A novel single missense mutation identified along the RH50 gene in a composite heterozygous Rh(null) blood donor of the regulator type
77. Rh-deficiency of the regulator type caused by splicing mutations in the human RH 50 gene
78. Molecular basis for Rh(null) syndrome: Identification of three new missense mutations in the Rh50 glycoprotein gene
79. Rh(null) disease: The amorph type results from a novel double mutation in RhCe gene on D-negative background
80. Rh(mod) syndrome; A family study of the translation-initiator mutation in the Rh50 glycoprotein gene
81. 279 → Glu missense mutation in the conserved transmembrane segment
82. Haematological changes associated with the McLeod phenotype of the Kell blood group system
83. Abnormal membrane physical properties of red cells in McLeod syndrome
84. Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein
85. Association of XK and Kell blood group proteins
86. Kell and Kx, two disulfide-linked proteins of the human erythrocyte membrane are phosphorylated in vivo
87. Purification and partial characterization of the erythrocyte Kx protein deficient in McLeod patients
88. Review: Conditions causing weak expression of Kell system antigens
89. Localization of the McLeod locus (XK) within Xp21 by deletion analysis
90. The Kell blood group system: A review
91. A novel frameshift mutation in the McLeod syndrome gene in a Japanese family
92. The first non-CGD McLeod phenotype male to make anti-Kx: Definition of the molecular basis
93. New abnormalities in the morphology, cell surface receptors, and electrolyte metabolism of In(Lu) erythrocytes
94. The effect of In(Lu) on some high-frequency antigens
95. 1 of cells of the dominant type of Lu(a-b-)
96. b blood group antigens are located on a glycoprotein of 80,000 MW (the CDw44 glycoprotein) whose expression is influenced by the In(Lu) gene
97. A unique gene encodes spliceoforms of the B-cell adhesion molecule cell surface glycoprotein of epithelial cancer and of the Lutheran blood group glycoprotein
98. b polymorphisms
99. Basal cell adhesion molecule Lutheran protein: The receptor critical for sickle cell adhesion to laminin
100. Critical factors in basal cell adhesion molecule/Lutheran-mediated adhesion to laminin
101. Jk(a-b-) red blood cells resist urea lysis
102. Cloning and functional expression of a urea transporter from human bone marrow cells
103. Kidd blood group and urea transport function of human erythrocytes are carried by the same protein
104. Molecular characterization of a new urea transporter in the human kidney
105. Urea transport deficiency in Jk(a-b-) erythrocytes
106. Urinary concentrating ability in patients with Jk(a-b-) blood type who lack carrier-mediated urea transport
107. Isolation of the cDNA for erythrocyte integral membrane protein of 28 kilodaltons: Member of an ancient channel family
108. Human red cell aquaporin CHIP. I. Molecular characterization of ABH and Colton blood group antigens
109. Mutations in aquaporin-1 in phenotypically normal humans without functional CHIP water channels
110. Aquaporins
111. A single mutation inside the NPA motif of aquaporin-1 found in a Colton-null phenotype
112. A novel form of congenital dyserythropoietic anemia associated with deficiency of erythroid CD44 and a unique blood group phenotype [In(a-b-), Co(a-b-)]
113. Human red cell Aquaporin CHIP. II. Expression during normal fetal development and in a novel form of congenital dyserythropoietic anemia
114. Gene transfer and gene therapy
115. The life-span of complement-sensitive and -insensitive red cells in paroxysmal nocturnal hemoglobinuria
116. Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria
117. Relationship between the membrane inhibitor of reactive lysis and the erythrocyte phenotypes of paroxysmal nocturnal hemoglobinuria