Sentences with phrase «inactivating mutations»

We identified homozygous inactivating mutations in RAB3GAP, encoding RAB3 GTPase activating protein, a key regulator of the Rab3 pathway implicated in exocytic release of neurotransmitters and hormones, in 12 families with Micro syndrome.

We uncovered the cohesion subunit SA1 as a putative synthetic - essential target in cancers carrying inactivating mutations of its paralog, SA2.

Up to 90 % of colorectal tumors contain inactivating mutations in a tumor suppressor gene called adenomatous polyposis coli (Apc).

The protein products of these genes, the authors note, «represent targets for immunotherapy, because inactivating mutations sensitize tumor cells to T - cell mediated attack.»

The function of myostatin appears to have been conserved across species, as inactivating mutations in the myostatin gene have been demonstrated to cause increased muscling in cattle [8]--[11], sheep [12], dogs [13] and humans [14].

A DNA sequence that was derived originally from a functional protein - coding gene that has lost its function owing to the presence of one or more inactivating mutations.

Similarly, inactivating mutations affecting the expression of APOC3 in humans led to reduced plasma TG levels (8) and protection against CVD (9 — 11).

In summary, our study demonstrates that inactivating mutations of KDM6A, which are common in urothelial bladder carcinoma, are potentially targetable by inhibiting EZH2.

[41,47] A recent study found that 20 % of anorectal melanomas have inactivating mutations in NF1, a tumor suppressor gene that negatively regulates the RAS / RAF / MEK / ERK pathway activity.

Among these was the discovery from another large population sample that carriers of ANGPTL3 - inactivating mutations had a 34 percent lower rate of coronary artery disease compared to non-carriers.

A demethylating protein called KDM6A is a known tumor suppressor, and its function is often lost in bladder cancer as a result of inactivating mutations.

If the goal is to inactivate the target gene, the creation of the break is sufficient to trigger cellular mechanisms that lead to error - prone repair and inactivating mutations.

We study naturally - occurring mutations in prohormone convertases which are associated with obesity, and have shown that inactivating mutations can lead to dominant - negative effects on peptide hormone biology in mice bearing only one mutant allele.

Finally, an inactivating mutation of LARP7 has been linked to a novel form of familial Primordial Dwarfism characterized by facial dysmorphism and intellectual disability (Alazami et al., 2012).