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--needs tweeking--> as tumors whose behavior is driven by mutations in the Kit gene or PDGFRA gene, and may or may not stain positively for Kit.
In the course of their research, the Cooperative Research Centre for Viticulture (CRCV), based at the CSIRO Plant Industry Horticulture Unit in Adelaide, Australia (one of the IGGP collaborating centres) discovered that white grapes only exist today as a result of a rare genetic mutation which took place thousands of years ago.
Other causes of IHH include GnRH insensitivity, which is the second most common cause of IHH and is thought to be responsible for up to 20% of cases, and a minority (less than 5-10%) due to inactivating mutations in a variety of other genes which positively regulate GnRH secretion such as CHD7, KISS1R, and TACR3.
Although most recognized for its correlation with the onset of glaucoma, the malformation is not limited to the eye, as Axenfeld syndrome when associated with the PITX2 genetic mutation usually presents congenital malformations of the face, teeth, and skeletal system.
Another example is neurofibromatosis, where patients with the same genetic mutation show different signs and symptoms of the disease.
In January 2001, researchers at Fordham University and Massachusetts General Hospital simultaneously reported finding the genetic mutation that causes FD, a discovery that opens the door to many diagnostic and treatment possibilities.
The biology of HPV+ OPC is distinct of HPV- OPC with P53 degradation (inactivated by E6 instead of by genetic mutation), pRB pathway inactivation (by E7 instead of Cyclin D1 amplification), and P16 upregulation (over-expression of p16 instead of inactivation due to reduced negative feedback from pRB).