By sequencing the entire genomes of tumor cells from six people with a rare cancer of the nose and sinus cavity, Johns Hopkins researchers report they unexpectedly found the same genetic change¾one in a gene involved in ...
Feb 27, 2019
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Researchers have reported for the first time the mechanism behind a very rare brain syndrome called disproportionate pontine and cerebellar hypoplasia (MICPCH), which causes microcephaly. Information gleaned from this animal ...
Feb 18, 2019
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Research published today (Feb. 11, 2019) reveals how one mutation causes fragile X, the most common inherited intellectual disability.
Feb 11, 2019
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Around the world, women outlive men. This is true in sickness and in health, in war and in peace, even during severe epidemics and famine. In most animal species, females live longer than males.
Dec 18, 2018
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Myotubular myopathy is a severe genetic disease that leads to muscle paralysis from birth and results in death before two years of age. Although no treatment currently exists, researchers from the University of Geneva (UNIGE), ...
Nov 19, 2018
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After nearly 40 years of searching, Johns Hopkins researchers report they have identified a part of the human genome that appears to block an RNA responsible for keeping only a single X chromosome active when new female embryos ...
Apr 17, 2017
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X-linked intellectual disability is a disorder that predominantly affects men and can have highly variable clinical manifestations. Scientists at the Max Planck Institute for Molecular Genetics in Berlin have found seven ...
Feb 13, 2015
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Using a basic genetic difference between men and women, the Translational Genomics Research Institute (TGen) has uncovered a way to track down the source of a neurological disorder in a young girl.
Dec 12, 2014
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Researchers from the University of Helsinki analyzed thoroughly the commonly occurring genetic variation in chromosome X, one of the two sex-determining chromosomes, in almost 25,000 Northern European individuals with diverse ...
Feb 6, 2014
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Producing brightly speckled red and green snapshots of many different tissues, Johns Hopkins researchers have color-coded cells in female mice to display which of their two X chromosomes has been made inactive, or "silenced."
Jan 8, 2014
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