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.
The V600E mutation (described above) is the most common BRAF gene mutation found in human cancers. This mutation has frequently been found in an aggressive form of skin cancer called melanoma as well as in cancers of the colon and rectum, ovary, and thyroid gland.oonan syndrome-caused by mutations in the BRAF gene. At least six BRAF gene mutations have been found to cause Noonan syndrome. These mutations change single amino acids in the BRAF protein. The resulting protein is continuously active, rather than switching on and off in response to cell signals.