Inactivating mutations of the calcium-sensing receptor (CASR) gene cause familial hypocalciuric h... more Inactivating mutations of the calcium-sensing receptor (CASR) gene cause familial hypocalciuric hypercalcaemia (FHH). Here we report three siblings with FHH caused by a novel mutation in the CASR. The case subject was a 60-year-old patient referred because of mild hypercalcaemia, increased PTH levels and persistently low calcium/creatinine ratio. FHH was suspected and a family biochemical and genetic analysis was performed. Sequencing of the CASR gene revealed a frameshift mutation (Val258Arg) in the extracellular domain of the CASR that creates a premature 46 amino acids stop codon which leads to a truncated protein that might affect its function. This heterozygous loss-of-function mutation in the CaSR gene causes reduced CaSR sensing ability resulting in the clinical manifestation of FHH. We hereby report the identification of a novel heterozygous loss-of-function mutation of the CASR gene in a Greek family from Nisyros island. Functional studies are needed to clarify the exact role of this mutation in CASR activity.
The water extract obtained from the aerial parts of Sideritis euboea (Lamiaceae), which is known ... more The water extract obtained from the aerial parts of Sideritis euboea (Lamiaceae), which is known in Greece as 'mountain tea', was investigated by determining the in vitro effect of this extract on the IL-6, OPG and RANKL secretion by osteoblasts, three important molecules in osteoblast-osteoclast interplay. The results showed that this extract reduced significantly the secretion of IL-6 by KS-483 osteoblasts, while it also suppressed RANKL secretion, with both effects being dose-dependent and more potent at the higher concentrations tested (50, 100 microg/mL). We further determined the chemical profile of the extract by applying an analytical U-HPLC-DAD-ESI-MS/MS method using the high resolution hybrid LTQ-Orbitrap Discovery spectrometer. An ESI source in negative mode was employed. The analysis indicated that the water extract of S. euboea is rich in flavonoid glycosides, and phenylpropanoid glycosides.
Inactivating mutations of the calcium-sensing receptor (CASR) gene cause familial hypocalciuric h... more Inactivating mutations of the calcium-sensing receptor (CASR) gene cause familial hypocalciuric hypercalcaemia (FHH). Here we report three siblings with FHH caused by a novel mutation in the CASR. The case subject was a 60-year-old patient referred because of mild hypercalcaemia, increased PTH levels and persistently low calcium/creatinine ratio. FHH was suspected and a family biochemical and genetic analysis was performed. Sequencing of the CASR gene revealed a frameshift mutation (Val258Arg) in the extracellular domain of the CASR that creates a premature 46 amino acids stop codon which leads to a truncated protein that might affect its function. This heterozygous loss-of-function mutation in the CaSR gene causes reduced CaSR sensing ability resulting in the clinical manifestation of FHH. We hereby report the identification of a novel heterozygous loss-of-function mutation of the CASR gene in a Greek family from Nisyros island. Functional studies are needed to clarify the exact role of this mutation in CASR activity.
The water extract obtained from the aerial parts of Sideritis euboea (Lamiaceae), which is known ... more The water extract obtained from the aerial parts of Sideritis euboea (Lamiaceae), which is known in Greece as 'mountain tea', was investigated by determining the in vitro effect of this extract on the IL-6, OPG and RANKL secretion by osteoblasts, three important molecules in osteoblast-osteoclast interplay. The results showed that this extract reduced significantly the secretion of IL-6 by KS-483 osteoblasts, while it also suppressed RANKL secretion, with both effects being dose-dependent and more potent at the higher concentrations tested (50, 100 microg/mL). We further determined the chemical profile of the extract by applying an analytical U-HPLC-DAD-ESI-MS/MS method using the high resolution hybrid LTQ-Orbitrap Discovery spectrometer. An ESI source in negative mode was employed. The analysis indicated that the water extract of S. euboea is rich in flavonoid glycosides, and phenylpropanoid glycosides.
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Papers by Eva Kassi