Categoría: MedicalXPress
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Gene’s role in attaining and maintaining muscle mass revealed in new study
New research from Northwestern University has uncovered a previously unexplored relationship between a gene critical to immune cells and the establishment and maintenance of skeletal muscle mass and strength in mice. The BCL6 gene has been known to play a key role in the function of immune cells and the body’s inflammatory response. For decades, scientists have…
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Web-based resource provides precise classification of dual genome variants of primary mitochondrial disease
A multi-institutional team of researchers led by teams at Children’s Hospital Los Angeles and Children’s Hospital of Philadelphia (CHOP) has developed a user-friendly, web-based genomic dataset analysis platform to help researchers more easily identify likely disease-causing gene variants in patients with suspected mitochondrial disease. The findings were recently published online by the journal Current Protocols. While…
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New assay identifies clinically relevant gene fusions in pediatric tumors more accurately and efficiently
Identification of specific gene fusions is critical for the successful targeted treatment of pediatric cancer patients. Researchers at Children’s Hospital Los Angeles have developed a novel assay that automatically integrates the data from multiple fusion identification tools (callers) and efficiently and accurately identifies clinically relevant gene fusions in pediatric tumors. Their results are reported in The Journal of…
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New sex-specific genetic variants for chronic kidney disease identified
by Anne Grimm, Leipzig University Working with an international consortium, scientists at Leipzig University have identified new genes that may play a role in chronic kidney disease. They analyzed data from more than 900,000 people and found effects that in some cases differed between men and women. These new findings may help scientists better understand sex-specific differences in…
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Researchers discover inherited genetic mutations can predict interval breast cancer
An investigation conducted by researchers at Karolinska Institutet has led to a discovery in breast cancer diagnostics and treatments that could reshape screening programs and clinical approaches. The study, published in JAMA Oncology, unravels the impact of rare genetic variants on interval breast cancers, providing new insights into tailored screening strategies. Interval cancers, a type of breast…
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Researchers trace a form of lupus back to a single mutation
Sometimes a single mutation in our genetic make-up is enough to cause disease. This is also the case with the autoimmune disease lupus. Lupus causes severe inflammation throughout the body and can have a serious impact on the lives of those affected. Researchers at the Max Planck Institute for Infection Biology in Berlin have now…
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New genetic findings offer therapeutic approaches for incurable autoimmune disease SLE
Systemic lupus erythematosus (SLE) is an autoimmune disease, in which the immune system that normally protects the body from invading microbes, turns against the body’s own cells. This autoimmune attack can affect any organ and patients commonly develop skin rashes, joint inflammation, blood clots, kidney failure, heart disease, fatigue and psychiatric problems. To date, there…
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Newly identified genes for depression may lead to new treatments
More than 200 genes linked to depression have been newly identified in a worldwide study led by UCL researchers. The research, published in Nature Genetics, found more than 50 new genetic loci (a locus is a specific position on a chromosome) and 205 novel genes that are associated with depression in the first large-scale global study of the…
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Ancient DNA reveals reason for high multiple sclerosis and Alzheimer’s rates in Europe
Researchers have created the world’s largest ancient human gene bank by analyzing the bones and teeth of almost 5,000 humans who lived across western Europe and Asia up to 34,000 years ago. By sequencing ancient human DNA and comparing it to modern-day samples, the international team of experts mapped the historical spread of genes—and diseases—over…
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Research discovers gene that links deafness to inner ear cell death
Researchers have found a gene that links deafness to cell death in the inner ear in humans—creating new opportunities for averting hearing loss. A person’s hearing can be damaged by loud noise, aging and even certain medications, with little recourse beyond a hearing aid or cochlear implant. But now, UCSF scientists have achieved a breakthrough in understanding…