Zobrazeno 1 - 10
of 63
pro vyhledávání: '"N. Loux"'
Autor:
Catherine Boileau, N. Loux, B. Saint-Jore, F. Dairou, Truffert J, J. L. de Gennes, Claudine Junien, P. Douste-Blazy, B. Dastugue, Benlian P, G. Collod
Publikováno v:
Hum Mutat
Hum Mutat, 1992, 1 (4), pp.325-32. ⟨10.1002/humu.1380010411⟩
Hum Mutat, 1992, 1 (4), pp.325-32. ⟨10.1002/humu.1380010411⟩
To investigate the molecular basis of familial hypercholesterolemia (FH) in France, we applied the single strand conformation polymorphism (SSCP) method to the promoter region and the 18 exons of the low density lipoprotein receptor (LDLR) gene. Seve
Autor:
C, Vons, N, Loux, L, Simon, D, Mahieu-Caputo, I, Dagher, M, Andreoletti, J, Borgnon, V, Di Rico, F, Bargy, F, Capron, A, Weber, D, Franco
Publikováno v:
Transplantation. 72(5)
The transplantation of isolated hepatocytes in large animals, including nonhuman primates, must be evaluated before clinical trials are performed. However, in the absence of large transgenic animals and large-animal (as opposed to small-animal) model
Autor:
J E, Allain, D, Mahieu-Caputo, N, Loux, I, Dagher, V, Di Rico, M, Andréoletti, D, Franco, F, Capron, A, Weber
Publikováno v:
Journal de la Societe de biologie. 195(1)
We are developing cell therapy approaches on non-human primates as a preclinical model for the treatment of hepatic metabolic diseases. In foetuses, the tissues, including liver, are in expansion, which should facilitate hepatocytes engraftment, and
Publikováno v:
Annales de chirurgie. 125(2)
The aim of this study was to assess liver regeneration after partial portal ligation.70% partial portal occlusion was obtained by ligation of the left portal vein branch. Total liver weight ratio were measured 96 hours after partial portal occlusion
Autor:
C. Féo, N. Loux, J. Amiel, I. Beucler, D. Bonnefont, Michel Koenig, J. C. Maziere, L. Reutenauer, P. Landrieu
Publikováno v:
Journal of inherited metabolic disease. 18(3)
A major neurological deterioration, beginning with ataxia, led to the diagnosis of familial vitamin E deficiency in a girl. Based upon vitamin E determinations, 4/8 members of the (consanguineous) sibship were considered to be homozygous. Homozygosit
Publikováno v:
Human genetics. 91(5)
We identified by polymerase chain reaction/ single-strand conformation polymorphism analysis two unreported polymorphisms in the low density lipoprotein receptor gene, located in exons 11 and 15. The exon 15 sequence variation can also be readily det
Autor:
N. Loux, I. Beucler, C. Junien, X. Guillerd, Marcia Pessah, O. Dulac, Recaredo Infante, J. Lequeux, J. Navarro
Publikováno v:
Biochemical and biophysical research communications. 190(1)
Abetalipoproteinemia is a recessive genetic disorder of unknown origin, which is characterized by absence of circulating apo-B-containing lipoproteins, malabsorption of intestinal fat, and degenerative neurological and retinal lesions. In this study,
Autor:
Jean-Pierre Cambou, Claudine Junien, Benlian P, Catherine Boileau, N. Loux, M. Denat, Gwenaëlle Collod, B. Saint-Jore
Publikováno v:
Hum Mutat
Hum Mutat, 1993, 2 (2), pp.145-7. ⟨10.1002/humu.1380020216⟩
Human Mutation
Human Mutation, Wiley, 1993, 2 (2), pp.145-147. ⟨10.1002/humu.1380020216⟩
Hum Mutat, 1993, 2 (2), pp.145-7. ⟨10.1002/humu.1380020216⟩
Human Mutation
Human Mutation, Wiley, 1993, 2 (2), pp.145-147. ⟨10.1002/humu.1380020216⟩
International audience
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::650fabccf6e2773f2dbac410edc31803
https://www.hal.inserm.fr/inserm-00143533
https://www.hal.inserm.fr/inserm-00143533
Autor:
Claudine Junien, Jean-Pierre Cambou, Pastier D, L. Monnier, Benlian P, Catherine Boileau, C. Percheron, N. Loux
Publikováno v:
Human Genetics. 87
Many mutations in the low density lipoprotein receptor gene (LDLR) have been characterized at the molecular level in individuals with familial hypercholesterolemia. Most of the mutations that have been reported are large deletions or insertions in th
Publikováno v:
The Journal of clinical investigation. 87(1)
Anderson's disease is a recessive disorder characterized by intestinal fat malabsorption, absence of postprandial chylomicrons, and reduced levels of cholesterol, triglycerides, and apoproteins B, AI, and C. We have studied two families with, respect