Eustachian Tube Growth and Development: Anatomy/Function. Protocol Description. This study measures Eustachian tube function and facial growth over time in three groups of children: one with recurrent ear infections, one with chronic middle ear fluid, and one with little past history of otitis media.
Causes of Kartagener syndrome. Kartagener syndrome is caused by a mutation in the DNAI1 gene, which makes a cellular protein required for normal functioning cilia (cilia line the respiratory tract) and sperm motility.
HHMI researchers identify gene mutations that cause a potentially fatal clotting disorder. Researchers have determined the cause of a potentially deadly inherited blood-clotting disorder that can lead to kidney failure or stroke. The researchers found that the disorder, thrombotic thrombocytopenic purpura (TTP), is caused by mutations in a gene that render the ADAMTS13 enzyme ineffective.