46 research outputs found
Simple detection of a point mutation in LDL receptor gene causing familial hypercholesterolemia in southern Italy by allele-specific polymerase chain reaction.
Polymerase chain reaction (PCR) amplification of specific alleles allowed the rapid detection of a point mutation (missense Gly528 → Asp) in exon 11 of the low density lipoprotein receptor gene which was otherwise not detectable by exon amplification and enzymatic digestion as it does not modify the normal restriction pattern. The mutant allele, designated as FH-Palermo-1 from the origin of the first carrier family identified, gave a specific PCR product of 109 bp clearly distinct from the product of 168 bp obtained from other alleles with a nonspecific couple of primers. This method allowed us to distinguish one positive sample mixed with up to 11 parts of normal DNA. Furthermore, the specific amplification product was characterized by a Bsm I restriction site not present in nonspecific products.—Cantafora, A., I. Blotta, E. Mercuri, S. Calandra, and S. Bertolini. Simple detection of a point mutation in LDL receptor gene causing familial hypercholesterolemia in southern Italy by allele-specific polymerase chain reaction. J. Lipid Res. 1998. 39: 1101–1105
A "de novo" mutation of the LDL-receptor gene as the cause of familial hypercholesterolemia
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Cryopreservation protocol for human biliary tree stem/progenitors, hepatic and pancreatic precursors
Human biliary tree stem/progenitor cells (hBTSCs) are being used for cell therapies of patients with liver cirrhosis. A cryopreservation method was established to optimize sourcing of hBTSCs for these clinical programs and that comprises serum-free Kubota's Medium (KM) supplemented with 10% dimethyl sulfoxide (DMSO), 15% human serum albumin (HSA) and 0.1% hyaluronans. Cryopreserved versus freshly isolated hBTSCs were similar in vitro with respect to self-replication, stemness traits, and multipotency. They were able to differentiate to functional hepatocytes,cholangiocytes or pancreatic islets, yielding similar levels of secretion of albumin or of glucose-inducible levels of insulin. Cryopreserved versus freshly isolated hBTSCs were equally able to engraft into immunocompromised mice yielding cells with human-specific gene expression and human albumin levels in murine serum that were higher for cryopreserved than for freshly isolated hBTSCs. The successful cryopreservation of hBTSCs facilitates establishment of hBTSCs cell banking offering logistical advantages for clinical programs for treatment of liver diseases
The effect of cyclic AMP on the biliary secretion of taurocholic acid in the perfused rat liver
Effects of oestrogen on plasma, hepatic and biliary cholesterol levels in rats fed fish oil
156 The effect of dietary fish oil on the hepatic uptake and processing of chylomicron cholesterol
The Hepatic Uptake of Rat High‐Density Lipoprotein Cholesteryl Ester is Delayed After Treatment with Cholesteryl Ester Transfer Protein
Metabolic oxidation controls the hepatic stem cells (HpSCs) fate and the hepatic lineage organization in physiologic and pathologic conditions
[No abstract available