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Jean-Louis Mandel

Researcher at University of Strasbourg

Publications -  372
Citations -  39716

Jean-Louis Mandel is an academic researcher from University of Strasbourg. The author has contributed to research in topics: Gene & Fragile X syndrome. The author has an hindex of 101, co-authored 362 publications receiving 37522 citations. Previous affiliations of Jean-Louis Mandel include French Institute of Health and Medical Research & Collège de France.

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Analysis of mammalian gene function through broad-based phenotypic screens across a consortium of mouse clinics.

Martin Hrabě de Angelis, +168 more
- 27 Jul 2015 - 
TL;DR: New phenotypes were uncovered for many genes with previously unknown function, providing a powerful basis for hypothesis generation and further investigation in diverse systems.
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Production of phosphatidylinositol 5-phosphate by the phosphoinositide 3-phosphatase myotubularin in mammalian cells.

TL;DR: Data demonstrate for the first time a role for MTM1 in the production of PtdIns(5)P in mammalian cells, suggesting that the lack of transformation of phosphatidylinositol 3,5-bisphosphate into Ptdins(5), the function of which is still unknown, might be an important component in the etiology of myotubular myopathy.
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Advances in understanding of fragile X pathogenesis and FMRP function, and in identification of X linked mental retardation genes

TL;DR: The fragile X mental retardation syndrome is caused by large methylated expansions of a CGG repeat in the FMR1 gene that lead to the loss of expression of FMRP, an RNA-binding protein this paper.
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The ovalbumin gene region: common features in the organisation of three genes expressed in chicken oviduct under hormonal control.

TL;DR: Two large DNA fragments overlapping the chicken ovalbumin gene have been isolated by molecular cloning and analysis of these fragments provided a map of a 46,000-base pair region of the chicken genome, suggesting that duplications have occurred in the ovalbumIn gene region in the course of evolution.
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A Novel RNA-binding Nuclear Protein That Interacts With the Fragile X Mental Retardation (FMR1) Protein

TL;DR: NUFIP mRNA expression is strikingly similar to that of the FMR1 gene in neurones of cortex, hippocampus and cerebellum and indicates a specific nuclear role for FMRP, which can shuttle between the nucleus and the cytoplasm.