Missense mutations are more common than loss-of-function
mutations, and some of them cause just as much damage.
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.
Thus, either gainor loss-of-function
mutations might result in the disease phenotype.
through Silencing or Knockout in Adipogenic Models.
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.
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
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).
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.
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
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