We recently identified the inhibitory immune receptor pd-1 as a key haploinsufficient
tumor suppressor in t-cell lymphoma that is inactivated in up to 30% of human cases.
for the Cebpa gene ([Cebpa.sup.+/-]) were kindly provided by Prof.
Beclin 1, an autophagy gene essential for early embryonic development, is a haploinsufficient
For example, Beclin 1 expression is often downregulated in human breast cancer and [Beclin-1.sup.+/-] mice were found to be tumor prone indicating that Beclin-1 is a haploinsufficient
tumor suppressor gene [14, 15]; LC3 was found to be highly expressed in gastrointestinal cancers ; Atg7 liver conditional knockout mice developed hepatomegaly, a condition that may lead to malignant transformation ; and p62 was considered to be an oncogenic protein since its overexpression in vivo in the liver was sufficient to induce hepatocellular carcinoma without carcinogen administration .
Additionally, it is reported that haploinsufficient
mutations in TTF-1 are associated with pulmonary disease in infants and with variable inhibitory effects on the expression of SPs in human [50, 51].
The possibility for multifocal PAs must be taken into account at diagnosis and during follow-up of any patient with germline AIP mutations, as all the anterior pituitary cells are haploinsufficient
for AIP and therefore at risk.
Krebs et al., "Haploinsufficient
lethality and formation of arteriovenous malformations in Notch pathway mutants," Genes and Development, vol.
We also found that a Wnt molecule may cause apparent opposite effects for bcl-7 mutant phenotypes, which showed a haploinsufficient
Chimeric genes can have different possible consequences: when due to a deletion, not only the loss of a fully functional copy of the gene is especially relevant for haploinsufficient
genes, but also the gain-of-function of the chimeric gene.
Thus, c.13C>T (p.Arg5X) is a predicted null allele in a haploinsufficient
In a recent study on a murine model of PTHS, the authors provided the first evidence that TCF4 haploinsufficient
mice had a reduced upper gastrointestinal and distal colonic transit velocities .
Similar results were identified in COL3A1 haploinsufficient
mice [12, 13].