Familial FTD has been associated with mutations in genes encoding microtubule-associated protein tau [ 17] and progranulin [ 18, 19] - and infrequently valosin-containing protein [ 20] and charged multivescular body protein 2B [ 21, 22].
This form of the disease is often hereditary and has been associated with mutations in several different genes, each of which encodes a protein necessary for the formation of sarcomeres, the contractile units of muscle.
MFS has been associated with mutations of the gene encoding fibrillin-1 (FBN1), a major constituent of the elastic fibers.
Several genetic diseases in humans have been associated with mutations in their sequence, which has made them promising targets for rational drug design.
Fluoroquinolone (FQ -resistance in Clostridium diFQ -resistanceen associnted with mutations in the quinolone-resistanClostridiuming region (QRdifficiler genes.
T-cell acute lymphoblastic leukemia, aortic valve disease, and familial forms of cardiomyopathy, have been associated with mutations in Notch1.
For instance, a type of progeria known as Hutchinson Gilford Progeria Syndrome (HGPS) has been associated with mutations in the lamin A/C gene [19].
Moreover, lipodystrophies have been associated with mutations in LMNA, the gene that encodes A-type lamins.
The disease has been associated with mutations of the MEFV gene in chromosome 16p [ 3, 5].
- In a significant proportion of hematopoietic malignancies, this has been associated with mutations in TET2.
