Search Results - "Denefle, P."
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A Wide Variety of Mutations in the Parkin Gene Are Responsible for Autosomal Recessive Parkinsonism in Europe
Published in Human molecular genetics (01-04-1999)“…Autosomal recessive juvenile parkinsonism (AR-JP, PARK2; OMIM 602544), one of the monogenic forms of Parkinson's disease (PD), was initially described in…”
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2
Ensemble Of Neural Networks For High Endothelial Venules Detection In Meca-79 Immunohistochemistry Images
Published in 2019 IEEE 16th International Symposium on Biomedical Imaging (ISBI 2019) (01-04-2019)“…The presence of high endothelial venules (HEVs) in the tumor micro-environment is associated with favorable clinical out-come in breast cancer and other human…”
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Conference Proceeding -
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Inhibition of atherosclerosis development in cholesterol-fed human apolipoprotein A-I-transgenic rabbits
Published in Circulation (New York, N.Y.) (15-08-1996)“…Prospective epidemiological studies support the hypothesis that high levels of high-density lipoprotein (HDL) cholesterol and apolipoprotein (apo) A-I limit…”
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4
Efficient dual transcomplementation of adenovirus E1 and E4 regions from a 293-derived cell line expressing a minimal E4 functional unit
Published in Journal of Virology (01-01-1996)“…Article Usage Stats Services JVI Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
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5
Clinical and pathologic abnormalities in a family with parkinsonism and parkin gene mutations
Published in Neurology (27-02-2001)“…A Dutch family with autosomal recessive early-onset parkinsonism showed a heterozygous missense mutation in combination with a heterozygous exon deletion in…”
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Journal Article -
6
Tracking Cancer Genetic Evolution using OncoTrack
Published in Scientific reports (14-07-2016)“…It is difficult for existing methods to quantify, and track the constant evolution of cancers due to high heterogeneity of mutations. However, structural…”
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Journal Article -
7
Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1
Published in Nature genetics (01-08-1999)“…Tangier disease (TD) was first discovered nearly 40 years ago in two siblings living on Tangier Island. This autosomal co-dominant condition is characterized…”
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8
Liraglutide has potent anti-inflammatory and anti-catabolic activity in two cell-types implicated in osteoarthritis
Published in Osteoarthritis and cartilage (01-04-2021)Get full text
Journal Article -
9
Association between Early-Onset Parkinson's Disease and Mutations in the Parkin Gene
Published in The New England journal of medicine (25-05-2000)“…Parkinson's disease is one of the most frequent neurodegenerative disorders, with a prevalence of 1 to 2 percent among persons older than 65 years of age. 1 It…”
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Journal Article -
10
Phosphorylation of human recombinant tyrosine hydroxylase isoforms 1 and 2: an additional phosphorylated residue in isoform 2, generated through alternative splicing
Published in The Journal of biological chemistry (15-09-1991)“…The single human tyrosine hydroxylase (TH) gene generates four different mRNA species through alternative splicing events. TH-1 and TH-2 mRNAs are expressed…”
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Mechanism of Inhibition of Protein Phosphatase 1 by DARPP-32: Studies with Recombinant DARPP-32 and Synthetic Peptides
Published in Biochemical and biophysical research communications (17-01-1995)“…The mechanism of inhibition of protein phosphatase-1 catalytic subunit (PP-1c) by recombinant DARPP-32 and synthetic peptides was studied. DARPP-32 was…”
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12
Introduction to gene therapy: a clinical aftermath
Published in Methods in molecular biology (Clifton, N.J.) (01-01-2011)“…Despite three decades of huge progress in molecular genetics, in cloning of disease causative gene as well as technology breakthroughs in viral biotechnology,…”
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13
Opposite regulation of human versus mouse apolipoprotein A-I by fibrates in human apolipoprotein A-I transgenic mice
Published in The Journal of clinical investigation (01-06-1996)“…The regulation of liver apolipoprotein (apo) A-I gene expression by fibrates was studied in human apo A-I transgenic mice containing a human genomic DNA…”
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Journal Article -
14
Endothelial Derived Vasorelaxation Is Impaired in Human APO A-I Transgenic Rabbits
Published in Biochemical and biophysical research communications (08-12-1997)“…Endothelium-derived relaxing factor (nitric oxide: NO) may provide an endogenous defence against atherosclerosis which impairs endothelium-dependent vascular…”
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Journal Article -
15
Complete Genomic Sequence of the Human ABCA1 Gene: Analysis of the Human and Mouse ATP-Binding Cassette A Promoter
Published in Proceedings of the National Academy of Sciences - PNAS (05-07-2000)“…The ABCA1 gene, a member of the ATP-binding cassette A (ABCA1) transporter superfamily, encodes a membrane protein that facilitates the cellular efflux of…”
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16
Regulation of Rat Liver Apolipoprotein A‐I, Apolipoprotein A‐II and Acyl‐Coenzyme A Oxidase Gene Expression by Fibrates and Dietary Fatty Acids
Published in European journal of biochemistry (15-08-1995)“…The regulation by fibrates and dietary fatty acids of the hepatic gene expression of apolipoproteins (apo) A‐I and A‐II, the major protein constituents of…”
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Identification and characterization of a novel ABCA subfamily member, ABCA12, located in the lamellar ichthyosis region on 2q34
Published in Cytogenetic and genome research (01-01-2002)“…The ABCA subfamily of ABC transporters includes ten members to date. In this study, we describe an additional gene, ABCA12. Four full-length cDNA sequences…”
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Efficient adenovirus-mediated ectopic gene expression of human lipoprotein lipase in human hepatic (HepG2) cells
Published in Human gene therapy (20-01-1997)“…Gene therapy to deliver and express a corrective lipoprotein lipase (LPL) gene may improve the lipid profile and reduce the morbidity and potential atherogenic…”
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Apolipoprotein A-I(R151C)Paris is defective in activation of lecithin : cholesterol acyltransferase but not in initial lipid binding, formation of reconstituted lipoproteins, or promotion of cholesterol efflux
Published in Journal of molecular medicine (Berlin, Germany) (01-08-1999)“…ApoA-I(R151)Paris is a natural apolipoprotein (apo) A-I variant that is associated with low levels of high-density lipoprotein cholesterol (HDL-cholesterol)…”
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Protection Against Atherogenesis in Mice Mediated by Human Apolipoprotein A-IV
Published in Science (American Association for the Advancement of Science) (16-08-1996)“…Apollpoproteins are protein constituents of plasma lipid transport particles. Human apolipoprotein A-IV (apoA-IV) was expressed in the liver of C57BL/6 mice…”
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