South African amaXhosa patients with atopic dermatitis have decreased levels of filaggrin breakdown products but no loss-of-function
mutations in filaggrin.
mutations in the gene encoding filaggrin cause ichthyosis vulgaris.
IDENTIFICATION OF THE NOVEL PCSK9-Q152H LOSS-OF-FUNCTION
VARIANT IN A FRENCH-CANADIAN FAMILY
alleles (G946A, A1513C, and T1729A) have been characterized in recombinant expression systems, and similar methods have recently been used to characterize a gain-of-function allele (C489T) (20-23).
2003) presented the results of an investigation of more than 16,000 genes for loss-of-function
phenotypes in C.
Key clinical point: Infants living in areas with a high calcium carbonate concentration in the water supply are at Increased risk for eczema, especially if they carry a filaggrin loss-of-function
A point mutation at R345T which appears to result in loss-of-function
when re-expressed in the mouse was found in 5925 healthy individuals with a heterozygous frequency of approximately 0.
8% per year in non-carriers of CYP2C19 loss-of-function
We wanted to uncover general principles that could be applied to a variety of loss-of-function
protein misfolding diseases.