Articles tagged with Loss Of Function Mutations
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A Goethe University-led study reveals how mutations in the SPRTN enzyme cause chronic inflammation and premature ageing. The research team found that damaged DNA in the cell nucleus leaks into the cytoplasm, activating defense mechanisms and leading to chronic inflammation.
A team of researchers has identified a mechanism that interferes with the splicing process in a more subtle way, leading to cell death. The study reveals that spliceosome subunits U4, U5, and U6 are normally stabilized by protein USP39, but when mutated or absent, stability is compromised, causing incorrect connections during splicing.
A team of researchers from Xi'an Jiaotong-Liverpool University has engineered a short sequence of artificial DNA to target the mutant protein p53-R175H, linked to lung, colorectal, and breast cancers. The new molecule, dp53m, inhibits cancer cell growth and increases sensitivity to chemotherapy agent cisplatin.
A University at Buffalo-led research team has found that the same genes whose mutations gave rise to a low functioning male gorilla reproductive system may also be responsible for human male infertility. Researchers identified 109 reproductive-related gorilla genes that are often mutated when present in infertile men.
A research team identified two different RAD50 variants in a patient with progressive bone marrow failure and immunodeficiency, leading to loss of function of the MRN complex. The findings suggest that RAD50 deficiency/Nijmegen breakage syndrome-like disorder is characterized by growth retardation and microcephaly.
Researchers have identified a mechanistic link between zinc levels in humans and the risk of type 2 diabetes and fatty liver disease. Genetic analysis revealed that zinc plays a crucial role in insulin production and glucose metabolism, with circulating zinc levels associated with reduced diabetes risk.
Researchers found evidence for a modifier gene in sand cress that can lead to loss of self-incompatibility and acquisition of self-pollination. The study challenges current understanding of this process and opens up new avenues for research on plant breeding systems.
Researchers at Cedars-Sinai Medical Center identified a genetic variant associated with increased risk of developing perianal Crohn's disease, a debilitating manifestation of Crohn's disease. The study highlights the importance of targeting the alternative complement pathway and Complement Factor B (CFB) in treating this condition.
Researchers from Tokyo Medical and Dental University discovered three novel STAT1 variants that cause Mendelian susceptibility to mycobacterial disease (MSMD) in response to the BCG vaccine. The variants result in loss of function of the STAT1 protein, preventing an appropriate immune response.
A new study analyzed tumor biopsies from patients with newly-diagnosed germinal center B cell lymphoma and found that CREBBP mutations were associated with lower disease-free survival rates. The researchers identified CLMA as a practical tool to translate experimental findings into clinical applications.
Research found a link between genetic variants that mimic statin medication effects and increased risk of developing cataracts. Genetic analysis revealed carriers of rare mutations in the HMGCR gene have almost complete protein inhibition, similar to taking statins.
A genetic disease in children, CHARGE syndrome causes intellectual disability, attention deficit disorder, and autism. The INRS team is studying the gene's impact on brain development to identify potential treatments.
A UC Riverside-led study identifies how loss-of-function mutations in the gene PTPN2 affect intestinal epithelial cells' ability to maintain a barrier. The researchers found that increased fluid loss and diarrhea are linked to the mutation, which can be reversed by treating cells with synthetic matriptase.
Researchers discovered that rare recessive mutations are more common in autism than previously thought, explaining up to 5% of all cases. The study identified 41 genes that were knocked out only in individuals with autism, providing a likely explanation for the underlying biology of the disorder.
A nationwide research team has discovered a strong relationship between early-onset atrial fibrillation and mutations in the TTN gene, which helps maintain heart muscle structure. Roughly two percent of patients with early-onset Afib had a loss-of-function mutation in TTN, increasing their likelihood of diagnosis at younger ages.
A new study analyzing human and fruit fly genomes reveals that higher mutation loads lead to increased declines in relative fitness due to synergistic epistasis. The research helps explain why sex and genetic recombination are advantageous, and provides insights into the processes driving these effects.
Researchers at VCU Massey Cancer Center describe how p53 gene mutations activate mTORC1, leading to abnormal cell proliferation. The study identifies a potential target for existing drug pemetrexed, which may have greater clinical utility against cancers with p53 dysfunction.
Researchers challenge traditional views of individuality, proposing an evolutionary perspective that considers the fitness interests of component parts. Meanwhile, a surge in play research reveals its diverse causal mechanisms and evolutionary histories across animal species.
Scientists combined new and classic approaches to identify a single genetic mutation causing metachondromatosis, a disorder characterized by bony growths. The study demonstrates the power of whole-genome sequencing technology in efficiently identifying genes responsible for Mendelian diseases.
A new study by Duke University Medical Center scientists identifies a mechanism linking meal anticipation to Type 2 diabetes. Ankyrin-B gene mutation impairs insulin secretion, increasing blood sugar levels.
Research reveals that p53 gene mutations can trigger skin cancer, particularly squamous cell carcinoma (SCC), by accelerating malignant progression and sensitizing skin cells to tumor formation. Inflammation also plays a critical role in SCC development, with the chemokine receptor D6 acting as a key regulator.
Researchers have identified a flavin monooxygenase-like enzyme central to auxin biosynthesis in plants, revealing an important pathway for auxin synthesis. The discovery offers clues that may aid researchers studying similar enzymes in mammals.