OBJECTIVE The coexistence of familial hypocalciuric hypercalcemia (FHH) and primary hyperparathyroidism (PHPT) is extremely rare. Genetic evidence has demonstrated a causal relationship between FHH and the presence of inactivating mutations in the calcium-sensing receptor gene. METHOD We herein report a 60-year-old German patient who was referred for hypercalcemia and increased PTH levels fou...

Cardiac glycosides are plant-derived molecules that have shown antiproliferative properties against cancer cells, though the mechanism of action is not completely understood. We show that one cardiac glycoside, convallatoxin, presents antiproliferative effects against colorectal cancer cells in culture and that the resulting cell death is independent of the p53 tumor suppressor. Our data sugges...

Nevoid basal cell carcinoma syndrome (NBCS, Gorlin syndrome) is a rare autosomal-dominant entity and the most common hereditary form of cancer (BCC). Aberrant activation Sonic hedgehog pathway underlies BCC onset, germline mutations its components, mostly tumor suppressor PTCH1, are causing NBCS. Basaloid lesions from pediatric patients with NBCS differ adult BCCs, both clinically histologicall...

Maturity-onset diabetes of the young (MODY) type 2 is caused by heterozygous inactivating mutations in gene encoding glucokinase (GCK), a pivotal enzyme for glucose homeostasis. In pancreas GCK regulates insulin secretion, while liver it promotes utilization and storage. We showed that silencing DrosophilaGCK orthologs Hex-A Hex-C results MODY-2-like hyperglycemia. Targeted knock-down revealed ...

UNLABELLED Pseudohypoparathyroidism (PHP) Ia is a rare condition associated with multiple hormone resistance and the Albright Hereditary Osteodystrophy (AHO) phenotype. Progressive osseous heteroplasia (POH) is characterized by progressive ossifications of dermal, skeletal muscle and deep connective tissue during childhood. Both PHP Ia and POH are caused by heterozygous inactivating mutations i...