A new role for cohesin in regulating alternative splicing has been identified, providing insights into splicing mutations in human disease.
Proteins, long polymers comprised of smaller constituents known as amino acids, play a crucial role in the functioning of the human body. Over the course of a human's life, these "strings" of proteins fold into unique 3D ...
From the DNA of nearly 300,000 veterans, scientists have singled out a handful of genetic mutations that not only govern levels of cholesterol, but may also inform the development and use of drugs for cardiovascular disease ...
Oct 1, 2018
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Japanese biologist Yoshinori Ohsumi won the Nobel Prize in medicine on Monday for discoveries on how cells break down and recycle content, a garbage disposal system that scientists hope to harness in the fight against cancer, ...
Oct 3, 2016
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For many inherited diseases, such as cystic fibrosis or Huntington disease, the disease-causing genetic mutation damages or removes a protein that has an essential role in the body. This protein defect is the root cause of ...
Aug 8, 2013
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Johns Hopkins scientists say they have evidence from animal studies that a type of central nervous system cell other than motor neurons plays a fundamental role in the development of amyotrophic lateral sclerosis (ALS), a ...
Mar 31, 2013
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In one of the first genome-wide studies to hunt for both genes and their regulatory "tags" in patients suffering from a common disease, researchers have found a clear role for the tags in mediating genetic risk for rheumatoid ...
Jan 20, 2013
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(Medical Xpress) -- As the Earth's human population has skyrocketed since the rise of agriculture some 10,000 years ago -- to 7 billion people from a few million -- so, too, has the number of rare genetic variants.
May 11, 2012
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Researchers at the UCLA stem cell center and the departments of chemistry and biochemistry and pathology and laboratory medicine have identified, for the first time, a generic way to correct mutations in human mitochondrial ...
Mar 12, 2012
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In a study published in Cell Stem Cell, USC scientists report significant progress in cultivating nephron progenitor cells (NPCs), the cells destined to form the kidney's filtration system, the nephrons. NPCs hold immense ...
Apr 30, 2024
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