Although the functional effect of RPL22 mutations in endometrial cancer remains to be determined, it is noteworthy that RPL22 has been suggested to be a haploinsufficient
tumor suppressor gene, based on observations that 10% of primary T-cell acute lymphoblastic leukemias exhibit monoallelic deletion of RPL22 and that haploinsufficiency for RPL22 accelerates tumorigenesis in a mouse model of T-cell lymphoma (67).
PDGFRA-expressing mesenchymal cells have been described juxtaposed to the epithelial cell layer in the gallbladder of mouse embryos, and their diminished presence, detected in mice haploinsufficient
for fork-head box f1 gene, seems to contribute to the defective formation of this viscus.
Timing of supplementation with the antioxidant N-acetyl-L-cysteine reduces tumor multiplicity in novel, cancer-prone p53 haploinsufficient
Syndromic patent ductus arteriosus: evidence for haploinsufficient
TFAP2B mutations and identification of a linked sleep disorder.
Strikingly, we observed a higher incidence of haploinsufficient
genes in the rare CNVs in probands than in those of siblings, strongly indicating a functional impact of these CNVs on expression," said Geschwind.
Similarly, there is growing evidence that a number of cancer-related genes are haploinsufficient
, so that even the loss of one functional copy of the gene is enough to favor the development of cancer (see references (5) for review).
Here, we show that a small-molecule activator of telomerase (TA-65) purified from the root of Astragalus membranaceus is capable of increasing average telomere length and decreasing the percentage of critically short telomeres and of DNA damage in haploinsufficient
mouse embryonic fibroblasts (MEFs) that harbor critically short telomeres and a single copy of the telomerase RNA Terc gene (G3 Terc+/-MEFs).
Profiling of genes expressed by PTEN haploinsufficient
neural precursor cells.
In addition to receptor downregulation, excess OT has been shown to downregulate OTR-mRNA (42), and there appears to be a connection in haploinsufficient
reeler mice arid OTR downregulation (43).
tm1Brd] (N5) Haploinsufficient
Mice (Feed Studies).
N-acetyl-L-cysteine (NAC) reduces benzo[a]pyrene-induced tumor incidence overall but increases the fraction of malignant skin tumors in Trp53 haploinsufficient