Articles tagged with Exons
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A major albinism gene's exon skipping levels control human skin and hair color diversity. Researchers found that OCA2 exon 10 skipping contributes to hypopigmentation, shedding light on the genetic basis of human pigmentation.
A novel circular RNA, circTP63-N, generated by back-splicing exons 2–4 of the TP63 gene is significantly downregulated in nasopharyngeal carcinoma (NPC) tissues. Restoring its expression effectively inhibits NPC cell proliferation and metastasis via engagement with HSP90AB1 to modulate the YAP1/Hippo signaling pathway.
Two molecular control factors, GPATCH1 and DHX35, ensure accurate splicing by recognizing and rejecting defective pre-mRNAs. This process prevents the production of incorrectly synthesized proteins.
Researchers have found a way to reactivate the body's natural ability to destroy excess cancer proteins by introducing synthetic RNA fragments that increase poison exon inclusion. This discovery could lead to game-changing therapies for aggressive cancers such as triple-negative breast cancer and certain brain tumors.
Researchers found a correlation between protein folding and evolution in certain globular protein families, with most conserved exons corresponding to better foldons. However, the general trend did not hold for all protein families, suggesting other biological factors may influence protein folding and evolution.
Researchers at U of T have harnessed CRISPR to efficiently and precisely control RNA splicing, enabling the systematic interrogation of gene functions and correction of splicing deficiencies in diseases. This new tool allows for targeted activation or repression of alternative exons with high specificity.
A team of researchers at Hokkaido University has discovered a new role for 4.5 SH RNA in mice, which plays a crucial role in regulating alternative splicing and may be the first identified member of a new class of regulatory RNAs.
Researchers describe the use of ripretinib and repeated surgical resection in a patient with recurrent GIST harboring a KIT exon 11 mutation. The treatment led to extended clinical benefit, outperforming current reported data from ripretinib clinical trials.
A CRISPR-Cas3 system has restored dystrophin protein function in induced pluripotent stem cells from patients with Duchenne muscular dystrophy. The approach uses a dual CRISPR RNA method to remove large sections of the dystrophin gene, yielding truncated but still functional proteins for various mutation patterns.
Alternative gene splicing has been linked to an increased risk of alcohol use disorder (AUD), according to a recent study published in Molecular Psychiatry. The researchers identified 27 exon skipping events that may contribute to AUD risk, opening up new possibilities for finding new therapeutics.
Scientists have created a new method to model liver cancer tumor subtypes using CRISPR-Cas9, discovering that specific gene isoforms can lead to different cancer subtypes. This platform could help researchers develop new therapeutic interventions for treating cancer and other diseases.
Researchers propose a new method of clustering colorectal cancer patients using differential presence of exons (DPE) sequencing, which can provide valuable information on CRC progression and response to therapy. This analysis may also reduce costs and time required for staging CRC patients.
Researchers identify the minimum contribution of TACC3 for FGFR3-TACC3 fusion protein activation, revealing a novel target for treating FGFR translocation-driven cancers. The study shows that clinically identified FGFR3-TACC3 fusion proteins differ in biological activity depending on specific breakpoints.
Researchers discovered microexons, short DNA sequences that play a vital role in insulin secretion and glucose homeostasis. The study found that genetic variants affecting microexon inclusion are linked to type-2 diabetes risk and fasting blood sugar levels.
A recent study has revealed a novel cold domesticated repair mechanism for DNA damage in rice, providing elite modules for improving chilling tolerance. The discovery of GCG codon repeats in the first exon of COLD11, a DNA repair protein, has opened the way for fine regulation of rice chilling tolerance with a single site.
Researchers from Japan have developed an RNA interference method using antisense oligonucleotides to correct a genetic defect in Fukuyama Muscular Dystrophy. This approach has shown promise in treating patients with the disease, which is characterized by generalized muscle weakness and intellectual disability.
A study using gadoxetate disodium-enhanced MRI found associations between imaging characteristics and hepatocellular adenoma (HCA) subtypes. The algorithm identified common HCA subtypes with high accuracy, including β-catenin exon 3 mutations.
Researchers found that mislocalization of TDP-43 protein alters genetic instructions for UNC13A, providing a possible therapeutic target for treating ALS and FTD. The studies suggest that increasing UNC13A or stathmin 2 levels may prevent neuron death in these diseases.
Researchers found that dual-regulation by two distinct groups of splicing factors ensures phase-separation of large exon-containing transcription factors. SRSF3 overrides the splicing-suppressive activity of hnRNP K on large exons.
A study at Columbia University Irving Medical Center found that specific functional units within genes, called exons, can impact autism severity. The researchers analyzed genetic and clinical data from over 2,500 people with autism and discovered that children with truncating mutations in the same exon often exhibit similar symptoms.
Capmatinib shows high response rate (68%) in first-line treatment for NSCLC patients with MET exon 14 skipping mutations. Patients with lower MET amplification levels have limited effectiveness with the drug.
Researchers discovered an alternative splicing mechanism enabling parasites to thrive in the human gut's low oxygen environment. The unique enzyme variant allows for anaerobic metabolism, raising hopes for targeted treatments that are safe for humans.
Researchers at Kobe University have developed an exon-skipping therapy using antisense oligonucleotides to treat Alport Syndrome, a genetic kidney disease. The treatment was found to be effective in reducing urinary protein levels and suppressing kidney failure in model mice with severe mutations.
Researchers have created a new tool called CHyMErA that enables simultaneous editing of multiple genes and genomic fragments in the same cell. The method uses a combination of Cas9 and Cas12a enzymes to systematically target DNA at multiple positions, allowing for comprehensive analysis of gene cooperation and function.
Researchers at UT Southwestern Medical Center discovered that adjusting CRISPR dosages can significantly improve dystrophin production in edited genes. The optimal ratio of components changed based on the DNA sequence being edited, paving the way for optimized gene therapies for other diseases.
Researchers have developed a new CRISPR technique that allows them to skip over specific parts of genes that can cause disease. This approach could potentially treat genetic diseases such as Duchenne's muscular dystrophy and Huntington's disease by eliminating mutated gene sequences and influencing their expression.
Researchers at the University of Iowa and National Institute on Deafness and Other Communication Disorders have discovered a novel drug therapy that partially restores hearing in mice with an inherited form of progressive human deafness. The study sheds light on the molecular mechanisms underlying this condition, suggesting a new treat...
Researchers at MD Anderson Cancer Center found poziotinib to be up to 100 times more potent against cells with exon 20 mutations than other drugs. In mouse models, poziotinib reduced disease burden by 80% in EGFR mice and 60% in HER2 mice, with durable responses at 12 weeks.
A recent study published in Nature Genetics reveals that the DNA error surveillance and repair system is more efficient in protein-coding exons than other genomic regions. This higher efficiency allows for better conservation of essential genetic sequences across species.
Researchers have developed a new medicine, tarloxitinib, that brings high doses of anti-EGFR drugs to tumors while keeping toxic levels in healthy tissues. The prodrug-based approach has shown promising results in tests against lung cancer cells with EGFR exon 20 insertions.
A team of leading European clinicians and scientists presents a unique perspective on how to move forward in the development of exon skipping therapies for DMD. The authors discuss the main challenges and opportunities for these therapeutic agents going forward, including biomarkers in AON drug development and regulatory tools in the EU.
A research team discovered that Tdp-43 cryptic exons are highly variable between cell types, potentially leading to early diagnosis and therapeutic agents for neurological diseases. This finding may elucidate the causes of Frontotemporal Dementia and Lou Gehrig's Disease.
Researchers developed DECoN, a free, fast tool that detects exon copy number variants, which are hard to pick up by standard DNA sequencing tests. This allows for more efficient and effective gene testing, making it potentially life-saving.
A study presented at the American Association for Dental Research Annual Meeting found that saliva liquid biopsy accurately detected EGFR mutations in lung cancer patients, with high accuracy rates. The test showed promise as a non-invasive diagnostic tool for detecting actionable EGFR mutations.
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.
Researchers identified CD19 splicing alterations as a cause of resistance to CAR T-cell therapy in pediatric patients. The study found that alternative splicing led to the production of a modified version of the CD19 protein, which was functional but could not be recognized by the immune system.
A new RNA editing technique called exon skipping has shown promising results in treating a rare and severe form of muscular dystrophy. The treatment, licensed to the Kurt+Peter Foundation, aims to slow down muscle decline and stabilize function in individuals with Limb Girdle Muscular Dystrophy Type 2C.
Researchers discovered TDP-43 normally prevents unwanted RNA stretches from being used by nerve cells. When TDP-43 accumulates, it malfunctions, leading to a cascade of events that kills brain or spinal cord cells.
Duke researchers demonstrate a genetic therapeutic technique targeting a large region of the dystrophin gene to treat up to 60 percent of DMD patients. The CRISPR system is used to cut specific exons, altering the gene and producing a shortened dystrophin protein.
Researchers found that rare EGFR mutations in non-small cell lung cancer (NSCLC) have distinct impacts on disease outcome and therapy response. Classic EGFR mutations were associated with better overall survival and higher TKI therapy response rates compared to rare mutations, which were linked to tobacco smoking and poorer prognosis.
The SPECTAcolor platform has successfully implemented across 19 European clinical centers, recruiting over 500 patients and providing high-quality biological materials. Preliminary analysis reveals mutations in key cancer biomarkers, including KRAS, NRAS, BRAF, PI3K, and mismatch repair.
Researchers used iPS cells to correct genetic mutations in Duchenne muscular dystrophy (DMD), a severe muscular degenerative disease. Engineered nucleases TALEN and CRISPR were successfully used to edit the genome of iPS cells generated from DMD patient skin cells, resulting in the disappearance of the mutation responsible for DMD.
Scientists have discovered a new form of dystrophin protein that can be produced through an alternate cellular mechanism in patients with Duchenne muscular dystrophy. This mechanism involves an internal ribosome entry site and could offer a novel therapeutic approach for patients with mutations affecting the first four exons.
Adding cetuximab or bevacizumab to combination chemotherapy improves survival for patients with KRAS wild-type untreated colorectal cancer, with both treatments offering approximately 30-month overall survival. Genetic testing is crucial to determine the benefit of these treatments.
Researchers use antisense oligonucleotides to skip over the mutated exon causing Huntington's disease, preventing formation of toxic protein fragments. The innovative therapeutic strategy is a proof-of-concept for treating complex diseases.
Researchers mapped the genome's 3D structure, finding that selected exons are exposed and accessible to transcription machinery. This reveals a new mechanism by which the genome's folding regulates gene expression and splicing.
Researchers found cancers with EGFR exon 20 insertions have similar clinical characteristics to those with common mutations but a poorer prognosis. Median survival was 16 months for these patients, shorter than those with other mutations.
A new study reveals snippets of information in dark matter that can alter the way a gene is assembled. This discovery opens doors to studying the dark matter of genes and further understanding how mutations or polymorphisms affect gene functions.
Researchers at UCLA have found a powerful boost to therapy for Duchenne muscular dystrophy by combining a proven FDA-approved medication, dantrolene, with existing treatments. This combination aims to restore normal muscle function and improve the lives of those affected by the disease.
Researchers used information theory to identify DNA introns and exons, achieving an order of magnitude speedup over previous methods. This breakthrough can help better understand the human genome and predict diseases linked to DNA.
Researchers discovered signals within exons 9 and 10 of the PK-M gene that determine mutually exclusive splicing, promoting PK-M2 production in cancer cells. This finding has implications for developing therapies to reverse the Warburg effect.
A new study reveals that Alu elements inserted into existing genes can alter protein production rates, contributing to evolutionary differences between humans and other primates. The research uses high-throughput RNA sequencing data to quantify the frequency and location of Alu-derived exons in human genes.
Researchers have successfully reversed symptoms of Type III SMA in mice by introducing an ASO into their spinal cords, promoting efficient inclusion of a critical exon and increasing SMN protein production. The treatment persisted for half a year after administration and showed no toxicity or inflammation.
The spliceosome, a giant complex of RNA and protein subunits, assembles and operates to remove unwanted genetic material and join the remaining pieces. Researchers spied on the process using FRET and observed reversible contortions in the presence of energy.
Researchers at Tel Aviv University have discovered a new mechanism for DNA packaging that affects RNA splicing, leading to differences in protein production. This finding has significant implications for disease diagnosis and treatment, including the development of innovative drug therapies.
A team of researchers has identified a promising drug candidate for treating spinal muscular atrophy (SMA), a genetic disease that affects approximately 1 in 6,000 babies born in the US. The tetracycline-like compound boosts SMN protein levels by fixing an RNA splicing error, resulting in increased functional protein production.
A new publication in Molecular Therapy outlines the dramatic effects of an exon skipping PPMO in preventing severe deterioration of dystrophin-deficient mice. The treatment restores dystrophin protein expression and maintains near-normal muscle function, suggesting great potential for treating Duchenne muscular dystrophy patients.
A new treatment involving AVI-4658 has shown promising results in patients with Duchenne muscular dystrophy (DMD), increasing dystrophin production by skipping exon 51. The treatment was found to be safe and effective, with increased dystrophin expression observed in treated muscles.
Researchers demonstrate that Affymetrix Gene platform can analyze differential splicing activity, comparable to Exon arrays, providing added value to existing data. The new statistical method, FIRMAGene, uses adjacent poorly fitting probes to calculate differential expression.
A recent study from the University of Iowa found that nearly half of human DNA, composed of repetitive sequences like Alu elements, gives rise to functional exons that regulate gene expression. These findings suggest a link between 'junk' DNA and human-specific traits, such as muscle-related diseases.