@entity8404 ( @entity8404 ) is an @entity74 characterized by @entity1448 , @entity854 . Increasing importance is being given to vascular and @entity6220 . @entity8404 is in most cases caused by heterozygous mutations in the @entity127 ( @entity127 ) gene encoding a cell-surface ligand of the Notch receptors. The interaction between @entity125 and @entity127 induces proliferation and inhibits apoptosis. We evaluated the role of apoptosis in @entity8404 @entity1 carrying a truncating mutation in exon 7 of @entity127 . Peripheral blood lymphocytes (PBLs) from two @entity1 were exposed to @entity8687 ( @entity21520 ). Apoptosis was analyzed by flow cytometry, fluorescence microscopy and Western blotting. PBLs from @entity1 showed a significantly higher percentage of apoptosis than controls both in standard culture conditions and after dRib treatment, however we demonstrated a lack of @entity8186 activation in those cells. Our results confirm that @entity127 may play a role in apoptosis regulation. In particular, truncating mutations in @entity127 could lead to Notch signaling inhibition and determine a deregulation of survival and proliferation, favoring apoptosis. Moreover, the lack of @entity8186 activation in @entity8404 @entity1 indicates a possible selective impairment of @entity8186 cleavage suggesting that @entity127 plays a specific role in the regulation of @entity8186 activation.

Oxidative stress-induced apoptosis in two XXXX with @entity8404 .

@entity1 :: ('9606', 'Species') :: ['patients'] @entity6220 :: ('MESH:D020279', 'Disease') :: ['central nervous system impairment'] @entity21520 :: ('CHEBI:16988', 'Chemical') :: ['dRib'] @entity8404 :: ('MESH:D016738', 'Disease') :: ['AGS', 'Alagille syndrome'] @entity8186 :: ('841', 'Gene') :: ['caspase-8'] @entity125 :: ('4851', 'Gene') :: ['Notch1'] @entity1448 :: ('MESH:D002779', 'Disease') :: ['cholestasis'] @entity854 :: ('MESH:D018376', 'Disease') :: ['cardiac, skeletal and ocular abnormalities'] @entity74 :: ('MESH:D030342', 'Disease') :: ['autosomal dominant disorder'] @entity8687 :: ('CHEBI:28816', 'Chemical') :: ['2-deoxy-d-ribose'] @entity127 :: ('182', 'Gene') :: ['JAG1', 'Jagged-1']
@entity1 :: (9606,Species) :: ['patients']
