Marthe Gautier

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Alagille syndrome is characterized by the association of chronic cholestasis with a paucity of interlobular bile ducts and a distinctive facies together with cardiovascular, skeletal and eye abnormalities. We examined the kidneys of 26 patients with this syndrome; 22 were under 3 years of age and 4 were 4, 6, 12 and 17 years old, respectively. specitively.(More)
Oestrogen receptor negative (ER(-)) invasive ductal carcinoma (IDC) represents a significant clinical challenge and therefore prompts the discovery of novel biomarkers. Transient receptor potential melastatin 7 (TRPM7), a channel protein that also contains a regulatory kinase domain, is overexpressed in IDC and regulates migration. However, the molecular(More)
Amino acid concentrations are studied in the extracellular media of ten series of human fibroblast and liver cell monolayer cultures. These two cell types consume and produce ostensively the same amino acids. Among the nonessential amino acids, the most significant variations involve serine and aspartate which are decreased; α-alanine, glutamate, ornithine(More)
After successful ascorbate and manganese treatment of a female patient with prolidase deficiency and iminodipeptiduria, we attempted to explain the mechanism of action of these drugsin vitro, using them preferentially on skin fibroblasts. Sincein vivo, ascorbate and manganese seemed to be responsible for both biochemical and clinical improvement, they were(More)
The activity of Glutamine Synthetase (GS) was measured during the growth of human diploid skin fibro-blasts cultured for three weeks in the presence or absence of either glucose or glutamine or both. In medium free of both glucose and glutamine, a single late peak in GS activity was observed concomitantly with delayed small cell protein increment. In all(More)
Children with Alagille syndrome show high serum cholesterol (15–20 mmol/L). To establish correlation of this unusual level of cholesterol with the regulation of cholesterol metabolism, 3-hydroxy-3-methylglutaryl-CoA reductase (HMGR) activity and synthesis of cholesterol, fatty acids and acidic steroids from [14C]acetate were determined in cultured skin(More)
The effect of fructose as a substitute for glucose in cell culture media was investigated in human skin fibroblast and liver cell cultures. Cells were grown for between 2 and 10 days in identical flasks in four different media, containing 5.5, mmol·1−1 and 27.5 mmol·I−1 glucose and fructose, respectively. In the presence of fructose, cell growth was(More)
Glycine transport is studied in cultured skin fibroblasts from a patient with isolated hyperglycinuria and from five normal subjects. Fibroblasts from the patient take up glycine less well than do cell lines from controls. Kinetic studies are consistent with a single transport system in the patient's and controls' cell lines.V max value in the(More)
The structural genes for human galactokinase (GALK) and the human cytosolic form of thymidine kinase (TK1) are located on 17q21–q22. These two loci are tightly linked, and studies on Chinese hamster cell lines have shown that the expression of TK1 and GALK genes may alter simultaneously. We investigated the possibility of a dependent mutation of TK1 and(More)
A human fibroblastic cell line transformed by the SV40-T antigen sequence and continuously cultured for 7 months displayed large periodic variations in cell proliferation. This contrasted with other characteristics of this cell line that remained constant: mosaic cell shape, absence of cell contact inhibition, and predominance of a hypodiploid population.(More)