HBA1, hemoglobin subunit alpha 1, 3039

N. diseases: 200; N. variants: 25
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3149631
Disease: MELORHEOSTOSIS, ISOLATED
MELORHEOSTOSIS, ISOLATED
0.050 AlteredExpression disease BEFREE For example, a transfected beta-globin gene is expressed in an inducible manner in mouse erythroleukemia (MEL) cells while a transfected alpha-globin gene is constitutively expressed at a high level in induced and uninduced MEL cells. 8628660 1996
CUI: C3149631
Disease: MELORHEOSTOSIS, ISOLATED
MELORHEOSTOSIS, ISOLATED
0.050 GeneticVariation disease BEFREE We describe the negative regulatory activity of a 1.7 kilobase (kb) region (R) in the human beta-globin locus located between 4.0 and 2.3 kb upstream of the delta-globin gene capsite, using a transient assay with the chloramphenicol acetyltransferase (CAT) reporter gene in mouse erythroleukemia (MEL) cells. 7524502 1994
CUI: C3149631
Disease: MELORHEOSTOSIS, ISOLATED
MELORHEOSTOSIS, ISOLATED
0.050 AlteredExpression disease BEFREE We suggest that operationally positive regulatory factors may exist in erythroleukemia cells, modifying the relative alpha 1- and alpha 2-globin gene expression by events following induction and by the adult MEL environment. 2117325 1990
CUI: C3149631
Disease: MELORHEOSTOSIS, ISOLATED
MELORHEOSTOSIS, ISOLATED
0.050 Biomarker disease BEFREE To determine whether sequences contained within the small intervening sequence (IVS 1) or large intervening sequence (IVS 2) are involved in the regulated expression of the human beta-globin gene, chimeric genes containing portions of the human beta- and delta-globin genes were stably transfected into mouse erythroleukemia (MEL) cells. 3470293 1987
CUI: C3149631
Disease: MELORHEOSTOSIS, ISOLATED
MELORHEOSTOSIS, ISOLATED
0.050 AlteredExpression disease BEFREE The levels of human alpha-globin mRNA in these hybrid cells were found to depend on factors present in the MEL recipient cell as well as on the differentiated state of the human donor cell, suggesting that this system may be suitable for characterisation of mechanisms governing haematopoietic differentiation in man. 6929406 1980