Sentences with phrase «inactivated by mutations»

Such genes help regulate cell division, and when they are missing or inactivated by mutations, cell division runs amok, resulting in tumors.

Not exact matches

«Our new data is scientifically important because ataluren restores activity to genes inactivated by nonsense mutations, and as a result, it has the potential to do so much for a large number of very complex genetic disorders,» Jacobson said.

The two studies together suggest that single copies of inactivating ANGPTL3 mutations are found in roughly one of every 250 people of European descent, whereas people with mutations in both copies of the gene — as in the family studied by Musunuru and colleagues — are much rarer.

Working with colleagues at St. Vincent's Hospital in Sydney, Martin identified two individuals who had the characteristics of hereditary nonpolyposis colorectal cancer, which is usually caused by a mutation that inactivates one of a person's two copies of the tumor suppressor gene MLH1, but who showed no signs of mutation.

«We can now study these different mutations and learn how this protein works by how it gets inactivated,» he said.

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

Cantley's lab and collaborators found that large doses of vitamin C did indeed kill cultured colon cancer cells with BRAF or KRAS mutations by raising free radical levels, which in turn inactivate an enzyme needed to metabolize glucose, depriving the cells of energy.

To shift into red pigment production, the enzyme flavonoid 3», 5» - hydroxylase (F3» 5 «h) is functionally inactivated in the 13 red - flowered species they examined by mutations that abolish enzyme activity.

This is in accordance with previous reports that decitabine and 5 - azacytidine produce a marked synergistic effect in combination with suberoylanilide hydroxamic acid and romidepsin in T - lymphoma cell lines by modulating cell cycle arrest and apoptosis.26, 27 As a mechanism of action, KMT2D mutations of B - lymphoma cells promote malignant outgrowth by perturbing methylation of H3K4 that affect the JAK - STAT, Toll - like receptor, or B - cell receptor pathway.28, 29 Here our study indicated that dual treatment with chidamide and decitabine enhanced the interaction of KMT2D with the transcription factor PU.1, thereby inactivating the H3K4me - associated signaling pathway MAPK, which is constitutively activated in T - cell lymphoma.13, 30,31 The transcription factor PU.1 is involved in the development of all hematopoietic lineages32 and regulates lymphoid cell growth and transformation.33 Aberrant PU.1 expression promotes acute myeloid leukemia and is related to the pathogenesis of multiple myeloma via the MAPK pathway.34, 35 On the other hand, PU.1 is also shown to interact with chromatin remodeler and DNA methyltransferease to control hematopoiesis and suppress leukemia.36 Our data thus suggested that the combined action of chidamide and decitabine may interfere with the differentiation and / or viability of PTCL - NOS through a PU.1 - dependent gene expression program.

Studies by ours and other groups have shown that a number of EphA2 and EphA3 mutations inactivate Eph receptor canonical signaling by disrupting ephrin binding or kinase activity, consistent with a role of canonical signaling in tumor suppression.

Background: Familial combined hypolipidemia, a Mendelian condition characterized by substantial reductions in all 3 major lipid fractions, is caused by mutations that inactivate the gene angiopoietin - like 3 (ANGPTL3).

Intriguingly, one of the most frequently altered genes, mutated exclusively by inactivating mutation, was LYST (10 %), which may represent a novel cancer gene in chordoma.Chordoma is a rare often incurable malignant bone tumour.

In previous work on DIPG, Lewis found that mutations can cause a histone to inhibit the enzyme PRC2, which inactivates genes by compacting them.

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).

BRCA1 is a classical tumor suppressor and it is inactivated only when both gene copies / alleles are mutated (one by germ - line mutation and the other by somatic mutation).