@entity11807 ( @entity11807 ), a rare @entity74 , exhibits a complex phenotype including progressive @entity2131 , @entity600 and increased risk of @entity5 , mainly @entity3052 . At the cellular level, @entity11807 is characterized by @entity56 to DNA cross-linking agents and by high frequencies of induced @entity2008 , a property used for diagnosis. @entity11807 results from mutations in one of the eleven @entity9518 ( @entity2864 to @entity9518 ) genes. Nine of them have been identified. In addition, @entity2674 gene has been shown to be identical to @entity2674 , one of the two @entity0 susceptibility genes. Seven of the @entity9518 proteins form a complex, which exists in four different forms depending of its subcellular localisation. Four @entity9518 proteins (D1( @entity2674 ), @entity25800 ) are not associated to the complex. The presence of the nuclear form of the @entity11807 core complex is necessary for the mono-ubiquitinylation of @entity24749 protein, a modification required for its re-localization to nuclear foci, likely to be sites of DNA repair. A clue towards understanding the molecular function of the @entity9518 genes comes from the recently identified connection of @entity9518 to the @entity5345 , @entity14050 , @entity9485 and ATR genes. Two of the @entity9518 proteins (A and D2) directly interact with @entity5345 , which in turn interacts with the @entity15124 / @entity15125 / @entity9485 complex, which is one of the key components in the mechanisms involved in the cellular response to DNA double strand breaks (DSB). Moreover, @entity14050 , a protein kinase that plays a central role in the network of DSB signalling, phosphorylates in vitro and in vivo @entity24749 in response to ionising radiations. Moreover, the @entity9485 protein and the monoubiquitinated form of @entity24749 seem to act together in response to DNA crosslinking agents. Taken together with the previously reported impaired DSB and DNA interstrand crosslinks repair in @entity11807 cells, the connection of @entity9518 genes to the @entity14050 , ATR, @entity9485 and @entity5345 links the @entity9518 genes function to the finely orchestrated network involved in the sensing, signalling and repair of DNA replication-blocking lesions.

[ XXXX : genes and function(s) revisited].

@entity15125 :: ('10111', 'Gene') :: ['RAD50'] @entity24749 :: ('2177', 'Gene') :: ['FANCD2'] @entity15124 :: ('4361', 'Gene') :: ['MRE11'] @entity0 :: ('MESH:D001943', 'Disease') :: ['breast cancer'] @entity5 :: ('MESH:D009369', 'Disease') :: ['cancers'] @entity5345 :: ('672', 'Gene') :: ['BRCA1'] @entity2674 :: ('675', 'Gene') :: ['BRCA2', 'FANCD1'] @entity14050 :: ('472', 'Gene') :: ['ATM'] @entity600 :: ('MESH:D000014', 'Disease') :: ['congenital malformations'] @entity3052 :: ('MESH:D015470', 'Disease') :: ['acute myeloid leukaemia'] @entity25800 :: ('28503', 'Gene') :: ['D2, I and J'] @entity56 :: ('MESH:D004342', 'Disease') :: ['hypersensitivity'] @entity74 :: ('MESH:D030342', 'Disease') :: ['inherited disorder'] @entity9518 :: ('83990', 'Gene') :: ['FANCJ', 'FANC'] @entity2864 :: ('2175', 'Gene') :: ['FANCA'] @entity9485 :: ('4683', 'Gene') :: ['NBS1'] @entity2008 :: ('MESH:D002869', 'Disease') :: ['chromosomal aberrations'] @entity2131 :: ('MESH:C536572', 'Disease') :: ['bone marrow failure'] @entity11807 :: ('MESH:D005199', 'Disease') :: ['Fanconi anemia', 'FA']
@entity11807 :: (MESH:D005199,Disease) :: ['Fanconi anemia']
