Articles tagged with Missense Mutations
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A massive study of human protein variants found that 61% of disease-causing mutations destabilize proteins, leading to cataracts, neurological disorders, and muscle-wasting diseases. The researchers created the Human Domainome 1 catalogue, which includes over half a million mutations across 522 human protein domains.
Dr. Michael Courtney's team will use advanced phenotyping techniques to assess how SYNGAP1 missense variants impact protein function, focusing on pathogenic or uncertain variants. The project aims to inform therapeutic strategies for patients with SYNGAP1-related disorders through drug repurposing and functional assays.
Researchers found that CHEK2 variants do not increase colorectal cancer risk compared to controls. Three low-risk missense variants were identified as potential drivers of breast cancer risk variability.
Researchers established a novel mouse model of inherited arrhythmia that spontaneously causes lethal arrhythmias, shedding light on the pathogenesis and potential drug efficacy. The study identifies a critical mutation in ryanodine receptor 2 (RyR2) as a key regulator of cardiomyocyte contraction.
A systematic review of papers found abnormalities in brain cancer and potential treatment with licensed drugs. Genetic differences were discovered between smokers and non-smokers, suggesting personalized medicine approaches.
Researchers at Tel-Aviv University have shed light on the Sigma-1 receptor's topology and function in neurodegenerative diseases. The study reveals that the receptor is retained in the endoplasmic reticulum and its amino end faces the cytoplasm, providing a crucial mechanism for therapeutic approaches to alleviate suffering from ALS.
A new computational approach identifies genes most likely linked to autism spectrum disorders (ASD) and predicts patient IQ using rare mutations. Researchers analyzed de novo missense mutations in a cohort of patients with ASD and their siblings, revealing that most genes are mutated only once.
Researchers analyzed genetic data from over 2,300 individuals with autism, identifying missense variants in 398 genes that may impact phenotypes. Patients with these variants tend to have lower IQ scores, shedding light on the complex relationship between mutations and autism severity.
A new study provides insights into the treatment of Christianson syndrome, a genetic brain disease characterized by reduced brain growth and intellectual disability. Researchers successfully tested two main forms of treatment on stem-cell-derived neurons, finding that gene transfer was effective in neurons with nonsense mutations, whil...
Researchers analyzed 1,330 disease-associated genes and identified 18 features associated with pathogenic variants and 14 with benign variants. The study provides a molecular atlas of pathogenic mutations and aims to accelerate personalized drug discovery and precision medicine.
Research highlights the link between Alport syndrome genotype and treatment effectiveness with ACE inhibitors and RAS blockers, showing varied responses to treatment depending on mutation type and age of progression to end-stage kidney disease.
Researchers describe five new cases of KAT6A syndrome, a rare genetic disorder characterized by intellectual disability, language impairment, and cardiovascular malformations. The study reveals novel symptoms such as cryptorchidism, syndactyly, and trigonocephaly, expanding the clinical phenotype of patients.
MIB2 promotes proteasomal degradation of CYLD, activating NF-κB signaling and enhancing inflammation. Mib2-knockout mice show reduced serum IL-6 and suppressed inflammatory responses.
Researchers analyzed TP53 mutations in human leukemia, finding that most missense variants exert a 'dominant-negative' effect reducing wild-type p53's cancer-suppressing activity. The study challenges previous hypotheses suggesting new oncogenic functions from these mutations.
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 new study by Ludwine Messiaen extends clinical manifestations of the three-base pair deletion p.Met992del in NF1, revealing mild symptoms but potential complications. The research expands on findings first reported in 2007, providing insight into a genotype-phenotype correlation that will aid families and clinicians.
A new study identified genetic missense mutations that contribute to disease risk in individuals with autism spectrum disorder (ASD). The framework successfully prioritized these mutations, which are more likely to occur in autistic children than their siblings.
Research identifies missense mutations in NF1 gene as risk factor for severe neurofibromatosis symptoms. Patients with these mutations show high incidence of benign tumors and malignancies.
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 identified eight functional variant mutations in the ADCY9 gene associated with non-syndromic oral clefts (nsCL/P) in Puerto Rican children. The study found three rare missense mutations, including rs52791170/K564Q and rs372048350/A811V, which were not previously reported in Puerto Ricans.
A new study suggests that rare 'missense' mutations in the HER2 gene may not cause breast cancer growth or spread on their own. The research team found that such mutations may also fail to predict response to anti-cancer drugs targeting the HER2 gene, unlike common amplification alterations.
Researchers found that de novo mutations, including missense and likely gene-disrupting mutations, contribute significantly to autism. The study also identified recurrent gene-disrupting mutations in 27 genes as causal factors in severe cases.
Women with rare ATM gene mutations and radiation exposure may be at higher risk for a second breast cancer in the opposite breast. Researchers found a statistically significant increase in contralateral breast cancer among women with deleterious missense variants and radiation exposure.
Researchers analyzed patients with a syndrome similar to NF1 and found that diagnosis may be difficult due to shared clinical findings. The study highlights the importance of molecular genetic testing to resolve diagnoses in cases of uncertainty.
Researchers found that expressing active MMP-9 in macrophages within atherosclerotic plaques leads to their rupture, causing blood clots and reduced blood flow. Additionally, the inactivation of focal adhesion kinase in cardiomyocytes promotes eccentric cardiac hypertrophy and fibrosis in mice.