Kempers et al., "
Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism," The New England Journal of Medicine, vol.
Five novel
inactivating mutations in the thyroid peroxidase gene responsible for congenital goiter and iodide organification defect.
The GnRH receptor (GNRHR) gene, differently from that encoding its ligand, accounts for many
inactivating mutations, resulting in impairment of GnRH action [63].
Congenital hypothyroidism with impaired thyroid response to thyrotropin (TSH) and absent circulating thyroglobulin: evidence for a new
inactivating mutation of the TSH receptor gene.
Although
inactivating mutations in CDH1 were found exclusively in plasmacytoid variant, the patterns of other altered genes were similar in plasmacytoid variant and coexistent conventional UC, suggesting that both histologic subtypes potentially evolve from a common cell of origin.
In TSC,
inactivating mutations in either the TSC1 or the TSC2 gene lead to hamartoma formation throughout the body as well as seizures and epileptogenesis.
Inactivating mutations in PROP1 perturb ontogenesis of pituitary gonadotrophs, somatotrophs, lactotrophs, and thyrotrophs.
The mutations in GPR54 gene that have been reported to impair puberty, cause HH and reproductive disability (de Roux et al., 2003), indicating an association of
inactivating mutations in GPR54 with HH (Papaoiconomou et al., 2011).
Further, the identification of healthy individuals with 2
inactivating mutations, effectively "human knockouts" for PCSK9, further increased optimism that the protein could be targeted without off-target effects.
Zhang et al., "
Inactivating mutations of the chromatin remodeling gene ARID2 in hepatocellular carcinoma," Nature Genetics, vol.
On the other hand, class II mutations include
inactivating mutations of transcription factors such as AML1/Runx1 and chromosome modification enzymes such as MLL that hamper cell differentiation (Table 1).
Current studies implicate the VHL gene in the development of both familial and sporadic clear cell tumors.2 Up to 96% of clear cells RCC are associated with 3p deletion including somatic
inactivating mutations of the VHL gene.
Different
inactivating mutations of the mineralocorticoid receptor in fourteen families affectedby type I pseudohypoaldosteronism.
