News tagged with nephronophthisis
The gene for day blindness in the dachshund has been found
A PhD project by Anne Caroline Wiik has discovered the genetic cause of day blindness or "cone-rod dystrophy” in the wire-haired dachshund. The disease was discovered in two litter mates in 1999 and has since ...
May 27, 2009 |
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Connecting cilia: Cellular antennae help cells stick together
Primary cilia are hair-like structures which protrude from almost all mammalian cells. They are thought to be sensory and involved in sampling the cell's environment. New research, published in BioMed Central's open access ...
Apr 24, 2012 |
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Worm research defines the role of multiple disease genes in cilia
(PhysOrg.com) -- University College Dublin researchers led by Conway Fellow, Dr Oliver Blacque have outlined how cilia disease gene products regulate important aspects of early cilium formation and the integrity ...
Mar 28, 2011 |
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Fast-track gene-ID method speeds rare disease search
A University of Michigan-led research team has identified a gene responsible in some families for a devastating inherited kidney disorder, thanks to a new, faster method of genetic analysis not available even two years ...
Sep 16, 2010 |
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Researchers identify fifth gene responsible for Joubert syndrome
An international study by researchers at Seattle Children’s Hospital Research Institute, the University of Washington School of Medicine, and Radboud University in Nijmegen, Netherlands has identified a new genetic cause ...
Jun 11, 2007 |
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