scholarly journals CD44 (CD44 molecule (Indian blood group))

Author(s):  
YP Sen ◽  
GW Yip
Keyword(s):  
2010 ◽  
Vol 43 (1) ◽  
pp. 17-22 ◽  
Author(s):  
Beenu Thakral ◽  
Karan Saluja ◽  
Ratti Ram Sharma ◽  
Neelam Marwaha

2018 ◽  
Vol 57 (3) ◽  
pp. 388-390
Author(s):  
Harita Gogri ◽  
Pranali Pitale ◽  
Manisha Madkaikar ◽  
Swati Kulkarni

2021 ◽  
Author(s):  
Jesse Eernstman ◽  
Barbera Veldhuisen ◽  
Peter Ligthart ◽  
Marieke von Lindern ◽  
Ellen van der Schoot ◽  
...  

Abstract Beta-hemoglobinopathies become prominent after birth due to a switch from γ-globin to the mutated β-globin. Haploinsufficiency for the erythroid specific indispensable transcription factor Krueppel-like factor 1 (KLF1) is associated with high persistence of fetal hemoglobin (HPFH). The In(Lu) phenotype, characterized by low to undetectable Lutheran blood group expression is caused by mutations within KLF1 gene. These KLF1 variants often lead to KLF1 haploinsufficiency. We screened a donor cohort of 55 Lutheran weak or negative donors for KLF1 variants. To discriminate between weak and negative Lutheran expression, a flow cytometry (FCM) assay was developed to detect Lu polymorphisms. The Lu(a-b-) (negative) donor group, showing a significant decreased CD44 (Indian blood group) expression, also showed increased HbF and HbA2 levels, with outliers expressing >5% HbF. KLF1 exons and promoter sequencing revealed variants in 80% of the Lutheran negative donors. Thirteen different variants plus one high frequency SNP (c.304T>C) were identified of which 6 were novel. In primary erythroblasts, knockdown of endogenous KLF1 resulted in decreased CD44, Lu and increased HbF expression, while KLF1 over-expressing cells were comparable to wild type (WT). In line with the pleiotropic effects of KLF1 during erythropoiesis, distinct KLF1 mutants expressed in erythroblasts display different abilities to rescue CD44 and Lu expression and/or to affect fetal (HbF) or adult (HbA) hemoglobin expression.


Author(s):  
Marion E. Reid ◽  
Christine Lomas-Francis ◽  
Martin L. Olsson

Author(s):  
Avani Shah ◽  
Parizad Patel ◽  
Keyuri Jariwala ◽  
Farzin Qureshi ◽  
Kanchan Mishra ◽  
...  

Transfusion ◽  
2007 ◽  
Vol 47 (7) ◽  
pp. 1306-1311 ◽  
Author(s):  
Joyce Poole ◽  
Louise Tilley ◽  
Nicole Warke ◽  
Frances A. Spring ◽  
Marijke A.M. Overbeeke ◽  
...  

2021 ◽  
Vol 37 (3) ◽  
pp. 126-130
Author(s):  
S.R. Joshi ◽  
S.B. Senjaliya ◽  
H.D. Maru ◽  
P.D. Kshirsagar ◽  
S.S. Kulkarni ◽  
...  

Author(s):  
Marion E. Reid ◽  
Christine Lomas-Francis

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Jesse Eernstman ◽  
Barbera Veldhuisen ◽  
Peter Ligthart ◽  
Marieke von Lindern ◽  
C. Ellen van der Schoot ◽  
...  

AbstractBeta-hemoglobinopathies become prominent after birth due to a switch from γ-globin to the mutated β-globin. Haploinsufficiency for the erythroid specific indispensable transcription factor Krueppel-like factor 1 (KLF1) is associated with high persistence of fetal hemoglobin (HPFH). The In(Lu) phenotype, characterized by low to undetectable Lutheran blood group expression is caused by mutations within KLF1 gene. Here we screened a blood donor cohort of 55 Lutheran weak or negative donors for KLF1 variants and evaluated their effect on KLF1 target gene expression. To discriminate between weak and negative Lutheran expression, a flow cytometry (FCM) assay was developed to detect Lu antigen expression. The Lu(a−b−) (negative) donor group, showing a significant decreased CD44 (Indian blood group) expression, also showed increased HbF and HbA2 levels, with one individual expressing HbF as high as 5%. KLF1 exons and promoter sequencing revealed variants in 80% of the Lutheran negative donors. Thirteen different variants plus one high frequency SNP (c.304 T > C) were identified of which 6 were novel. In primary erythroblasts, knockdown of endogenous KLF1 resulted in decreased CD44, Lu and increased HbF expression, while KLF1 over-expressing cells were comparable to wild type (WT). In line with the pleiotropic effects of KLF1 during erythropoiesis, distinct KLF1 mutants expressed in erythroblasts display different abilities to rescue CD44 and Lu expression and/or to affect fetal (HbF) or adult (HbA) hemoglobin expression. With this study we identified novel KLF1 variants to be include into blood group typing analysis. In addition, we provide further insights into the regulation of genes by KLF1.


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