Mutation

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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.

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References in periodicals archive ?

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.

Review of critical issues in the pathogenesis of atopic dermatitis

To date, almost 50 loss-of-function mutations have been identified.

Best practices in: pediatric atopic dermatitis

The characterization of naturally occurring gain-of-function and loss-of-function human PCSK9 variants has increased our understanding of the cell biology and function of this secreted glycoprotein.

Novel loss-of-function PCSK9 variant is associated with low plasma LDL cholesterol in a French-Canadian family and with impaired processing and secretion in cell culture

Gene-environment interaction in the onset of eczema in infancy: filaggrin loss-of-function mutations enhanced by neonatal cat exposure.

Infantile eczema linked to cat ownership in children with gene mutation

Novel, missense and loss-of-function mutations in the sodium/iodide symporter gene causing iodide transport defect in three Japanese patients.

Genetic factors that might lead to different responses in individuals exposed to perchlorate

We have developed a high-throughput genome targeting and validation platform that allows us to tackle large-scale loss-of-function studies both at a polyclonal as well as an arrayed format.

GENESIS: GENEtic DiSsection of Innate Immune Sensing and Signalling

Given the high lifetime risk for breast cancer in PALB2 loss-of-function mutation carriers, the study investigators back the inclusion of PALB2 when testing women from high-risk breast cancer families, together BRCA1 and BRCA2.

Invitae starts offering PALB2 testing for breast cancer

The researchers compared sequencing data to look for genetic differences and identify new loss-of-function mutations-which are rarer, but have a more severe effect on ordinary gene function-in cases of schizophrenia that had not been inherited from the patients' parents.