Study uncovers new insights into alternative splicing and disease associations
Alternative splicing, a process where a single gene can give rise to multiple different proteins via inclusion or exclusion of certain segments of the gene sequence, is known to occur in over 90% of human genes. This leads ...
11 hours ago
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Inherited genetic factors may predict the pattern of X chromosome loss in older women
Researchers have identified inherited genetic variants that may predict the loss of one copy of a woman's two X chromosomes as she ages, a phenomenon known as mosaic loss of chromosome X, or mLOX. These genetic variants may ...
13 hours ago
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Towards molecular and phenotypic characterization of VEXAS syndrome
VEXAS syndrome is a rare, adult-onset, life-threatening autoinflammatory disease caused by a genetic mutation. The pathophysiology is still unknown, but new work presented at the 2024 congress of EULAR—The European Alliance ...
7 hours ago
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New biomarker database designed to improve astronaut health may also be useful to Earthlings
With space travel becoming more frequent, a new biomarker tool has been developed by an international team of researchers to help improve the growing field of aerospace medicine and the health of astronauts.
Jun 11, 2024
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Possible mechanism for fold formation in the cerebral cortex discovered
Determining the genetic and epigenetic factors that influence brain folding is the objective of the latest study co-led by the Neurogenesis and Cortical Expansion laboratory, directed by researcher Víctor Borrell at the ...
Jun 11, 2024
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Researchers identify a gene that helps cancer cells spread throughout the body
Metastatic cancer cells, which cause 90% of cancer-related deaths, must overcome numerous hurdles to spread from a primary tumor through the bloodstream and re-establish themselves in different tissues.
Jun 11, 2024
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A milestone in epigenetics of reproduction: Researchers crack the male fertility code
Each cell contains a set of instructions in its DNA that determines which genes are expressed and which are silenced. The correct programming of these so-called epigenetic programs, including DNA methylation, is essential ...
Jun 11, 2024
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Building a blueprint of metabolic health—from mouse to human
Metabolic syndrome (MetS) is a health condition characterized by a group of risk factors: high blood pressure, high blood sugar, unhealthy cholesterol levels, and abdominal fat. These factors increase the risk of heart disease, ...
Jun 11, 2024
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Genetic mechanisms may reveal retinal vascular disease therapeutic targets
Investigators led by Tsutomu Kume, Ph.D., professor of Medicine in the Division of Cardiology and of Pharmacology, have identified novel genetic mechanisms that regulate blood vessel growth in the retina and may also serve ...
Jun 11, 2024
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New AI tool finds rare variants linked to heart disease in 17 genes
Using an advanced artificial intelligence tool, researchers at the Icahn School of Medicine at Mount Sinai have identified rare coding variants in 17 genes that shed light on the molecular basis of coronary artery disease ...
Jun 11, 2024
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Researchers develop new tool to aid processing of spatial transcriptomic data
Researchers from Children's Hospital of Philadelphia (CHOP) have developed a new tool to help analyze data collected from spatial transcriptomics technologies (SRTs), which simultaneously profile gene expression and spatial ...
Jun 11, 2024
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Commercial astronauts shed light on flights' health impacts and create spaceflight atlas
Short-term space travel causes many of the same molecular and physiologic changes as long-term space missions, but most reverse within months of returning to Earth. Yet, those changes that are longer-lasting and distinct ...
Jun 11, 2024
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Shedding light on the origin of a genetic variant underlying fungal infections
Researchers from Japan have uncovered the genetic diversity and regional patterns of CARD9 deficiency in patients susceptible to fungal diseases.
Jun 11, 2024
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Scientists discover a gene for trust—here's how it could be linked to good health
If a distressed stranger knocked on your door asking to use your phone, would you oblige? How about lending them a fiver for the bus, if they assured you they'd return and pay you back? In today's fractured world, trust seems ...
Jun 10, 2024
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Researchers discover a protein that prunes nerve endings, regulating sensitivity to pain
Like treetops reaching high into the sky to sense the sunlight, our sensory neurons—whose role is to collect information about what is happening in and around the body—grow long, intricate extensions known as axons. These ...
Jun 10, 2024
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Discovery unveils key to heart development in womb, unravels cause of spongy heart disease
Having explored how the heart is formed in utero, a University of Houston pharmacology researcher is reporting how cells and molecules act during that early formation and what might cause the heart disease called left ventricular ...
Jun 10, 2024
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'Whole family cried': New gene therapy offers hope for deaf kids
Zhu Yangyang babbles away like a typical happy three-year-old, calling out for "mama" and "papa" and accurately naming colors—a remarkable achievement considering he was completely deaf just months ago.
Jun 8, 2024
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Scientists develop new CRISPR gene editing platform for precision medicine and cancer treatment
Researchers at Columbia University College of Dental Medicine have developed an exosome-based platform, "safeEXO-Cas," that significantly enhances the delivery of CRISPR/Cas9 genome editing components to specific cells and ...
Jun 7, 2024
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