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Haploinsufficiency model of dominant genetic disorders. A + is a normal allele. A − is a mutant allele with little or no function. In haplosufficiency (most genes), a single normal allele provides enough function, so A + A − individuals are healthy.
A proto-oncogene is a normal gene that could become an oncogene due to mutations or increased expression.Proto-oncogenes code for proteins that help to regulate the cell growth and differentiation.
Huntington's disease (HD), also known as Huntington's chorea, is an incurable neurodegenerative disease [7] that is mostly inherited. [8] The earliest symptoms are often subtle problems with mood or mental/psychiatric abilities.
A health bar, a possible representation of the health of a character. Health is a video game or tabletop game quality that determines the maximum amount of damage or fatigue something takes before leaving the main game.
Gene therapy refers to a form of treatment where a healthy gene is introduced to a patient. This should alleviate the defect caused by a faulty gene or slow the progression of the disease. A major obstacle has been the delivery of genes to the appropriate cell, tissue, and organ affected by the disorder.
Familial adenomatous polyposis is a cancer syndrome in which there are hundreds to thousands of benign adenomas in the colon.. A hereditary cancer syndrome (familial/family cancer syndrome, inherited cancer syndrome, cancer predisposition syndrome, cancer syndrome, etc.) is a genetic disorder in which inherited genetic mutations in one or more genes predispose the affected individuals to the ...
Healthy narcissism is a positive sense of self that is in alignment with the greater good. [ 1 ] [ 2 ] [ 3 ] The concept of healthy narcissism was first coined by Paul Federn and gained prominence in the 1970s through the research of Heinz Kohut and Otto Kernberg .
Von Hippel–Lindau disease is a dominantly inherited cancer syndrome that significantly increases the risk of various tumors. This includes benign hemangioblastomas and malignant pheochromocytomas , renal cell carcinomas , pancreatic endocrine tumors , and endolymphatic sac tumors .