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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Missense mutations are more common than loss-of-function mutations, and some of them cause just as much damage.

Rare Recessive Mutations: Autism Clues

Harlequin ichthyosis (HI) is a severe variant of autosomal recessive congenital ichthyosis resulting from loss-of-function mutations in the ABCA12 gene on chromosome 2q35.

Harlequin ichthyosis - a disturbing disorder

Thus, either gainor loss-of-function mutations might result in the disease phenotype.

Expanding the Phenotype of Homozygous KCNMA1 Mutations; Dyskinesia, Epilepsy, Intellectual Disability, Cerebellar and Corticospinal Tract Atrophy

Seipin Loss-of-Function through Silencing or Knockout in Adipogenic Models.

Exploring Seipin: From Biochemistry to Bioinformatics Predictions

This loss-of-function mutation appears to be novel as not present in ethnically diverse population databases (dbSNP, gnomAD, or ClinVar) nor in a locally maintained database of 100 ethnically matched individuals.

Exome Sequencing Identifies a Novel Sorting Nexin 14 Gene Mutation Causing Cerebellar Atrophy and Intellectual Disability

We now report two patients with diabetes diagnosed before 6 months of age: one with homozygosity for a novel ABCC8 nonsense variant and one with compound heterozygosity for the same nonsense variant and a previously reported loss-of-function missense mutation.

An ABCC8 Nonsense Mutation Causing Neonatal Diabetes Through Altered Transcript Expression

We had now moved into large-scale, human genetic studies and, because homozygosity for LPL loss-of-function mutations led to LPL deficiency and severely increased triglycerides, we thought that heterozygosity would lead to moderately increased triglycerides and increased cardiovascular disease risk, which was indeed the case (2, 3).

A New Start for Triglycerides and Remnant Cholesterol-Nonfasting

Individuals having loss-of-function mutations in the gene encoding this protein have very low plasma levels of cholesterol and triglycerides.

Antisense inhibitor nets impressive lipid reductions

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.

Review of critical issues in the pathogenesis of atopic dermatitis

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

Biopharmaceutical company Epizyme (NasdaqGS:EPZM) said on Tuesday that the US Food and Drug Administration has filed its Investigational New Drug (IND) application for tazemetostat for the treatment of adults with mesothelioma characterized by BAP1 loss-of-function.

Epizyme's investigational NDA for tazemetostat accepted for review by the US FDA for mesothelioma

Examination of those people's exornes, the small portion of the genome that codes for proteins, revealed that among a subset of 821 participants, a total of 781 genes were rendered obsolete by "loss-of-function" mutations.