Search Results - "Menzel, Olivier"
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A state-of-the-art review of tamoxifen as a potential therapeutic for duchenne muscular dystrophy
Published in Frontiers in pharmacology (16-11-2022)“…Introduction: This systematic review analyzes the state-of-art repurposing of the drug tamoxifen (TAM) in the treatment of Duchenne Muscular Dystrophy (DMD),…”
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RAREvolution - Stand up for Scientific Research on Rare Diseases
Published in Molecular syndromology (01-02-2018)Get full text
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The RE(ACT) Initiative and the use of an online community to enhance research on rare diseases
Published in Orphanet journal of rare diseases (11-11-2014)Get full text
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Preface
Published in Molecular syndromology (01-11-2012)“…No abstract available Copyright © 2012 S. Karger AG, Basel [PUBLICATION ABSTRACT]…”
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Dominant monoallelic variant in the PAK2 gene causes Knobloch syndrome type 2
Published in Human molecular genetics (17-12-2021)“…Knobloch syndrome is an autosomal recessive phenotype mainly characterized by retinal detachment and encephalocele caused by biallelic pathogenic variants in…”
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Rare day to highlight rare diseases
Published in Nature (London) (19-01-2012)Get full text
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Leap year: Rare day to highlight rare diseases
Published in Nature (London) (18-01-2012)Get full text
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Biosafety in Ex Vivo Gene Therapy and Conditional Ablation of Lentivirally Transduced Hepatocytes in Nonhuman Primates
Published in Molecular therapy (01-10-2009)“…Ex vivo gene therapy is an interesting alternative to orthotopic liver transplantation (OLT) for treating metabolic liver diseases. In this study, we…”
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Mechanisms Regulating the Proliferative Potential of Human CD8+ T Lymphocytes Overexpressing Telomerase
Published in The Journal of immunology (1950) (15-09-2006)“…In human somatic cells, including T lymphocytes, telomeres progressively shorten with each cell division, eventually leading to a state of cellular senescence…”
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A Step Toward Liver Gene Therapy : Efficient Correction of the Genetic Defect of Hepatocytes Isolated From a Patient With Crigler-Najjar Syndrome Type 1 With Lentiviral Vectors
Published in Transplantation (15-04-2009)“…Ex vivo liver gene therapy may be a future alternative to orthotopic liver transplantation for the treatment of some liver diseases. We previously described…”
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Mechanisms That Limit the In Vitro Proliferative Potential of Human CD8+ T Lymphocytes
Published in The Journal of immunology (1950) (15-03-2005)“…Human T lymphocytes can be numerically expanded in vitro only to a limited extent. The cyclin-dependent kinase inhibitor p16(INK4a) is essential in the control…”
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Knobloch syndrome: Novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin
Published in Human mutation (01-01-2004)“…Knobloch syndrome (KNO) is an autosomal recessive disorder characterized by high myopia, vitreoretinal degeneration with retinal detachment, and congenital…”
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Mechanisms That Limit the In Vitro Proliferative Potential of Human CD8 super(+) T Lymphocytes
Published in The Journal of immunology (1950) (15-03-2005)“…Human T lymphocytes can be numerically expanded in vitro only to a limited extent. The cyclin-dependent kinase inhibitor p16 super(INK4a) is essential in the…”
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Mechanisms Regulating the Proliferative Potential of Human CD8 super(+) T Lymphocytes Overexpressing Telomerase
Published in Journal of Immunology (01-09-2006)“…In human somatic cells, including T lymphocytes, telomeres progressively shorten with each cell division, eventually leading to a state of cellular senescence…”
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The Caenorhabditis elegans ortholog of C21orf80, a potential new protein O-fucosyltransferase, is required for normal development
Published in Genomics (San Diego, Calif.) (01-08-2004)“…Down syndrome (DS), as a phenotypic result of trisomy 21, is the most frequent aneuploidy at birth and the most common known genetic cause of mental…”
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Proteomic and transcriptomic analysis of human CD8+ T lymphocytes over-expressing telomerase
Published in Proteomics. Clinical applications (01-03-2007)“…Human T lymphocytes have a finite life span resulting from progressive telomere shortening that occurs at each cell division, eventually leading to chromosomal…”
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