The BHD Literature Database has been updated with three new publications.
Baba et al. found that mice lacking Folliculin-interacting partner 1 (FNIP1) demonstrated arrest in B cell development. The authors showed that this arrest resulted from rapid caspase-induced pre-B cell death. This is a significant finding in determining the function of FNIP1 and FLCN.
Linehan and Ricketts discussed the pathology of kidney cancer, including the genes and pathways identified to date, and suggested that kidney cancer is fundamentally a result of cellular metabolic dysfunction.
Jandaghi et al. reviewed the case of a Persian family with a history of spontaneous pneumothorax. 10 of 24 members of the family were found to have a deletion in FLCN; 7 of these 10 were asymptomatic at time of publication. This report highlights the importance of family history in diagnosis.
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