Researchers at The University of Texas at Austin have discovered that the lack of a critical enzyme in the folic acid metabolic pathway leads to neural tube birth defects in developing embryos.
Jan 17, 2013
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Scientists have wrestled to understand why Huntington's disease, which is caused by a single gene mutation, can produce such variable symptoms. An authoritative review by a group of leading experts summarizes the progress ...
Jan 7, 2013
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Researchers at the Sainte-Justine University Hospital Center and the University of Montreal have found a possible heredity mechanism that predisposes children to acute lymphoblastic leukemia (ALL), the most common type of ...
Dec 17, 2012
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Scientists at the Hospital for Sick Children in Toronto have established that a drug recently approved by the U.S. Food and Drug Administration to treat a rare form of cystic fibrosis works in an unconventional way. Their ...
Oct 29, 2012
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Scientists at the Montreal Neurological Institute and Hospital – The Neuro, McGill University working with a team at Oxford University have uncovered the genetic defect underlying a group of rare genetic disorders.
Oct 9, 2012
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Misfolded proteins can cause various neurodegenerative diseases such as spinocerebellar ataxias (SCAs) or Huntington's disease, which are characterized by a progressive loss of neurons in the brain. Researchers of the Max ...
Sep 18, 2012
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Scientists now have clues to how a gene mutation discovered in families affected with congenital heart disease leads to underdevelopment of the walls that separate the heart into four chambers. A Nationwide Children's Hospital ...
Jun 26, 2012
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(Medical Xpress) -- Loyola researchers are taking advantage of a quirk in the evolution of fruit fly genes to help develop new weapons against cancer.
Jun 14, 2012
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Researchers studying rare genetic disorders have uncovered insights into those diseases in biological structures that regulate chromosomes when cells divide. Focusing on the cohesin complex, a group of proteins forming a ...
May 29, 2012
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Researchers at Seattle Children's Research Institute and their collaborators have discovered a pair of defective genes that cause a rare congenital malformation syndrome that can make it impossible for the child to breathe ...
May 3, 2012
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