BHD Literature Database Updated

The literature data base has been updated with two papers:

Kawai et al. show that FLCN reduces the levels of cyclin D1 protein in both HeLa cells and Nihon rat tumour cells. This regulation of cyclin D1, which is required for G1 to S transition during the cell cycle, by FLCN was found to be exerted post-transcriptionally and to require the central portion of cyclin D1’s 3’UTR. This regulation did not appear to involve any miRNAs or RNA binding proteins known to target cyclin D1 mRNA. However, cyclin D1 dysregulation was abrogated in FLCN-null cells treated with rapamycin or wortmannin, suggesting the mTOR and PI3K signalling may be involved in this process.

Mohan Das et al. describe the case of a 37 year-old woman who presented in clinic with pleuritic chest pain. Her medical history showed she had previously had been treated for a chest skin tag, which was diagnosed to be a papilloma at the time. Due to elevated D-dimer, the patient was given a CT pulmonary angiogram, which excluded pulmonary embolism but revealed the presence of multiple bilateral basal intrapulmonary cysts. Genetic testing confirmed a diagnosis of BHD Syndrome.

To find out more, download the latest version of the database here.

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