A high-quality reference catalogue of the genetic changes that result in the deactivation of human genes has been developed by a team of researchers. This catalogue of loss-of-function (LoF) variants is needed to find new ...
Feb 16, 2012
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Cancer researchers at Cold Spring Harbor Laboratory (CSHL) have carried out the first comprehensive study of the changes seen in the DNA of a patient with mast cell leukemia (MCL), an extremely aggressive subtype of acute ...
Dec 16, 2011
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(Medical Xpress) -- Using high-throughput gene sequencing technology, researchers have identified several harmful spontaneous gene mutations in children with autism spectrum disorders (ASDs) that may cause the disorder.
May 16, 2011
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A team led by researchers at the National Institutes of Health is the first to systematically survey the landscape of the melanoma genome, the DNA code of the deadliest form of skin cancer. The researchers have made surprising ...
Apr 15, 2011
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In a new study from the National Institute of Allergy and Infectious Diseases (NIAID), part of the National Institutes of Health, scientists describe successfully mutating specific genes of Chlamydia bacteria, which cause ...
Apr 11, 2011
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Alarmed by the surge in mpox cases in Africa, the WHO is meeting to decide whether to trigger its highest alert level over the mpox outbreak sweeping through several African countries.
Aug 13, 2024
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Two human cases of "dual mutant" strains of H1N1 flu have been reported by U.S. health officials.
Jun 13, 2024
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A genetic change or variant in a gene called SCN2A is a known cause of infantile seizures, autism spectrum disorder, and intellectual disability, as well as a wide range of other moderate-to-profound impairments in mobility, ...
Apr 26, 2024
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A recent study led by UC Davis Health researchers provides new insights into the molecular changes linked to the rare genetic condition 22q11.2 deletion syndrome, or 22q. It found unique biomarkers that could identify patients ...
Apr 26, 2024
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A research team including scientists from the CNRS has discovered that cancer, one of the leading causes of death worldwide, can be caused entirely by epigenetic changes, in other words, changes that contribute to how gene ...
Apr 24, 2024
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