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Your search keyword '"Philipsen, S."' showing total 4 results
Start Over Author "Philipsen, S." Journal american journal of hematology
4 results on '"Philipsen, S."'

3. Hereditary persistence of fetal hemoglobin in two patients with KLF1 haploinsufficiency due to 19p13.2-p13.12/13 deletion.

Author

Natiq A, Lysy PA, Gillemans N, Schaap R, Sefiani A, Amzazi S, Chafai El-Alaoui S, Cantú I, Banjanin B, van Lom K, Harteveld CL, and Philipsen S

Subjects
Female, Fetal Hemoglobin genetics, Humans, Male, Chromosome Deletion, Chromosomes, Human, Pair 19 genetics, Craniosynostoses blood, Craniosynostoses genetics, Fetal Hemoglobin metabolism, Kruppel-Like Transcription Factors genetics, Language Development Disorders blood, Language Development Disorders genetics, Psychomotor Disorders blood, Psychomotor Disorders genetics
Published
2017
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4. The study of sequence configuration and functional impact of the (AC)n(AT)xTy motif in human beta-globin gene promoter.

Author

Chan PK, Ma ES, Philipsen S, and Tan-Un KC

Subjects
Animals, Binding Sites, Cell Differentiation, Cell Line, Tumor, Fetal Hemoglobin analysis, Gene Expression Regulation, Globins biosynthesis, Homeodomain Proteins metabolism, Hong Kong, Humans, Leukemia, Erythroblastic, Acute pathology, Mice, Repressor Proteins metabolism, Transcription Factors metabolism, Transcription, Genetic, Transfection, beta-Thalassemia ethnology, 5' Untranslated Regions genetics, Globins genetics, Promoter Regions, Genetic genetics, Silencer Elements, Transcriptional genetics, beta-Thalassemia genetics
Abstract

In this report we examine the (AC)n(AT)xTy motif residing -530 bp 5' upstream of the beta-globin gene in Chinese thalassaemic patients. This motif is a putative binding site for a repressor protein, termed beta protein 1 (BP1) (Berg et al., Nucleic Acids Res 1989;17:8833-8852). Variations in the (AC)n(AT)xTy repeats affect the binding affinity of BP1, thereby altering the expression of the beta-globin gene. Eight different configurations of this repeat motif are identified in our population of Chinese beta-thalassaemia patients. A (AC)3(AT)7T5 motif was identified among these thalassaemia patients and its influence in beta-globin gene expression was studied using stable transfection assay in murine erythroleukemia (MEL) cells. Our data demonstrated that the (AC)3(AT)7T5 motif has a moderately strong repressor effect on the expression of the cis-linked beta-globin gene. The high affinity of BP1 for this motif may result in the suppression of the transcription of the beta-globin gene (Berg et al., Am J Hematol 1991;36:42-47). We postulate that silencer elements in the beta-globin promoter play an important role in modifying the clinical presentation of the disease., ((c) 2006 Wiley-Liss, Inc.)

Published
2007
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