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Related to loss-of-function mutation: genetic mutation, conditional mutant

MUTATION, French law. This term is synonymous with change, and is particularly applied to designate the change which takes place in the property of a thing in its transmission from one person to another; permutation therefore happens when, the owner of the thing sells, exchanges or gives it. It is nearly synonymous with transfer. (q.v.) Merl. Repert. h.t.

References in periodicals archive ?
DISCUSSION: Darier's disease (1) is caused by a loss-of-function mutation in the ATP2A2 that leads to a disruption of [Ca.
Functional consequences of newly found mutations: loss-of-function mutations
As a result, gain-of-function and loss-of-function mutations in the PCSK9 [2] gene have dramatic effects on serum LDLC concentrations in humans.
Study's lead author Kasper Hoebe, PhD, Division of Immunobiology, said, "Our data suggest GSK3 inhibitors will improve T cell survival and function and may prevent or correct immune-related disorders in people with Gimap5 loss-of-function mutations.
Lafora Disease, a rare, progressive, autosomal recessive neurodegenerative disorder characterized by intractable seizures, difficulty walking, muscle spasms, neurological deterioration, rapid cognitive decline, dementia, and death typically within ten years of onset, is caused by loss-of-function mutations in either the laforin gene (EPM2A) or malin gene (EPM2B) and is associated with gradual accumulation of Lafora bodies, aggregates of poorly branched, hyperphosphorylated, insoluble glycogen also known as polyglusan.
These activities are altered in a variety of tumours by gain- or loss-of-function mutations, whose mechanistic aspects still remain unclear.
Individuals having loss-of-function mutations in the gene encoding this protein have very low plasma levels of cholesterol and triglycerides.
About a decade ago, loss-of-function mutations in the filaggrin molecule were first implicated in the pathogenesis of ichthyosis vulgaris and, subsequently, of atopic dermatitis and other atopic diseases.
Although filaggrin {FLG) loss-of-function mutations are the strongest and best-replicated genetic links to AD worldwide (outside of Africa), the specific FLG mutation spectrum has been found to differ among populations.
Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis.
In particular, loss-of-function mutations of PTEN as well as hypermethylation and silencing of the PTEN promoter are found in a variety of human cancers.