The literature data base has been updated with four papers:
Betchinger et al., identified FLCN, together with FNIP1 and FNIP2, causes stem cells to exit pluripotency by excluding TFE3 from the nucleus and consequently reducing Esrrb expression. TSC2 also appears to regulate exit from pluripotency, acting upstream from mTOR signalling, while FLCN acts downstream or independently of mTOR signalling. FLCN appears to exert its control on pluripotency independently of other known pluripotency pathways, such as the GSK3 and MAPK/Nanog pathways. This paper is available to download from the BHD Articles Library:Basic.
Clarke reviews the pathology of lung diseases, including BHD and LAM, where the primary characteristic is diffuse cystic change.
Gupta et al. review the pathology of the pulmonary symptoms of BHD. The authors suggest diagnostic criteria of pulmonary BHD and management guidelines for pulmonary symptoms. The authors recommend that patients should meet with a pulmonologist and have lung function tests periodically; that patients should be equipped with an action plan for pneumothorax; and advice regarding air travel and scuba diving.
Zhang et al. used the divergent DENN domain of FLCN to screen for similar divergent DENN proteins. They found six proteins: SMCR8 and Npr2, Npr3, which have been implicated in autophagy; C9orf72 which causes ALS/FTD; and FNIP1 and FNIP2 which interact with FLCN and AMPK to regulate mTOR activity. Like FLCN, the newly identified DENN domain proteins carry a Longin domain, suggesting that they are likely to interact with Rab GTPases and may have GEF function. This paper is available to download from the BHD Articles Library:Basic.
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