Additionally, the authors discussed how seipin loss-of-function mutations
change the intracellular distribution of ADRP and how this is important in adipogenesis .
in FGFR1 cause autosomal dominant Kallmann syndrome.
in these genes cause hyperinsulinism by leading to a loss of K-ATP channels at the plasma membrane via effects on gene expression, protein synthesis, protein maturation, or membrane trafficking or by impairing the ability of SUR1 to regulate channel activity (2,3).
In many patients, loss-of-function mutations
such as stop, frame-shift, and splice site mutations were found.
As a result, gain-of-function and loss-of-function mutations
in the PCSK9  gene have dramatic effects on serum LDLC concentrations in humans.
of the CaSR gene present in homozygotes with neonatal severe hyperparathyroidism (NSHPT), while heterozygotes develop familial hypocalciuric hypercalcemia (FHH) (5).
Missense mutations are more common than loss-of-function mutations
, and some of them cause just as much damage.
Human genetic studies indicate that people with apoC-III loss-of-function mutations
show reduced risk for cardiovascular disease, with reductions in plasma triglycerides levels, while appearing to be phenotypically normal.
This is mainly due to the difficulty of drugging loss-of-function mutations
, which uniquely alter or entirely remove the gene product.
Congenital nephrogenic DI (CNDI) is an inherited form of NDI and this disorder occurs as a result of loss-of-function mutations
of the AVPR2 or AQP2 genes.
An increasingly popular, but not mutually exclusive, third mechanism by which loss-of-function mutations
of mitochondrial tumor suppressor genes contribute to cancer is known as pseudohypoxia.
Harlequin ichthyosis is a severe variant of autosomal recessive congenital ichthyosis resulting from loss-of-function mutations
in the ABCA12 gene on chromosome 2q35, a transporter protein responsible for the formation and function of the lamellar granules.