Jean-Louis Mandel
University of Strasbourg
Publications 390
#2Jérémie CourraudH-Index: 1
Last.Amélie PitonH-Index: 26
view all 16 authors...
Angelique Quartier, Jeremie Courraud, Thuong Thi Ha, George McGillivray, Bertrand Isidor, Katherine Rose, Nathalie Drouot, Marie-Armel Savidan, Claire Feger, Helene Jagline, Jamel Chelly, Marie Shaw, Frederic Laumonnier, Jozef Gecz, Jean-Louis Mandel, Amelie Piton
1 CitationsSource
#2Stephane SchmuckerH-Index: 1
Last.Izabela SumaraH-Index: 17
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Nucleoporins (Nups) build highly organized Nuclear Pore Complexes (NPCs) at the nuclear envelope (NE). Several Nups assemble into a sieve-like hydrogel within the central channel of the NPCs to regulate nucleocytoplasmic exchange. In the cytoplasm, a large excess of soluble Nups has been reported, but how their assembly is restricted to the NE is currently unknown. Here we show that Fragile X-related protein 1 (FXR1) can interact with several Nups and facilitate their localization to the NE duri...
#1Vlad Titerlea (UDS: University of Strasbourg)
#2Doulaye Dembélé (UDS: University of Strasbourg)H-Index: 23
Last.Jean-Francois Laporte (UDS: University of Strasbourg)H-Index: 97
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Abstract High-throughput sequencing technologies performed in the clinical setting have the potential to reveal diverse genetic information. Whether it is initially targeted or unsolicited, strictly medical or not, or even information on a carrier status as part of preconception screening, access to genetic information needs to be managed. The aim of the current study was to gather potential attitudes of various stakeholders towards the sharing of genetic information from next-generation sequenc...
#1Chris Balak (TGen: Translational Genomics Research Institute)H-Index: 4
#2Marianne Bénard (University of Paris)H-Index: 3
Last.Amélie PitonH-Index: 26
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The human RNA helicase DDX6 is an essential component of membrane-less organelles called processing bodies (PBs). PBs are involved in mRNA metabolic processes including translational repression via coordinated storage of mRNAs. Previous studies in human cell lines have implicated altered DDX6 in molecular and cellular dysfunction, but clinical consequences and pathogenesis in humans have yet to be described. Here, we report the identification of five rare de novo missense variants in DDX6 in pro...
2 CitationsSource
#1Francesca MattioliH-Index: 2
#2Bertrand IsidorH-Index: 30
Last.Amélie PitonH-Index: 26
view all 11 authors...
1 CitationsSource
#1Solveig MontautH-Index: 3
#2Christine Tranchant (UDS: University of Strasbourg)H-Index: 43
Last.Mathieu Anheim (UDS: University of Strasbourg)H-Index: 26
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Importance Movement disorders are characterized by a marked genotypic and phenotypic heterogeneity, complicating diagnostic work in clinical practice and molecular diagnosis. Objective To develop and evaluate a targeted sequencing approach using a customized panel of genes involved in movement disorders. Design, Setting and Participants We selected 127 genes associated with movement disorders to create a customized enrichment in solution capture array. Targeted high-coverage sequencing was appli...
8 CitationsSource
#1Michael V. Lombardo (University of Cambridge)H-Index: 39
#2Bonnie Auyeung (University of Cambridge)H-Index: 33
Last.Simon Baron-Cohen (University of Cambridge)H-Index: 139
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Early-onset neurodevelopmental conditions (e.g., autism) affect males more frequently than females. Androgens may play a role in this male-bias by sex-differentially impacting early prenatal brain development, particularly neural circuits that later develop specialized roles in social cognition. Here, we find that increasing prenatal testosterone in humans is associated with later reduction of functional connectivity between social brain default mode (DMN) subsystems in adolescent males, but has...
1 CitationsSource
#1Laura MaryH-Index: 1
#2Amélie Piton (UDS: University of Strasbourg)H-Index: 26
Last.Irina Giurgea (University of Paris)H-Index: 24
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High-throughput sequencing (HTS) of human genome coding regions allows the simultaneous screen of a large number of genes, significantly improving the diagnosis of non-syndromic intellectual disabilities (ID). HTS studies permit the redefinition of the phenotypical spectrum of known disease-causing genes, escaping the clinical inclusion bias of gene-by-gene Sanger sequencing. We studied a cohort of 903 patients with ID not reminiscent of a well-known syndrome, using an ID-targeted HTS of several...
1 CitationsSource
#1Michael V. Lombardo (UCY: University of Cyprus)H-Index: 39
#2Bonnie Auyeung (Edin.: University of Edinburgh)H-Index: 33
Last.Simon Baron-Cohen (University of Cambridge)H-Index: 139
view all 15 authors...
Many early-onset neurodevelopmental conditions such as autism affect males more frequently than females and affect corresponding domains such as social cognition, social-communication, language, emotion, and reward. Testosterone is well-known for its role as a sex-related biological mechanism and affects these conditions and domains of functioning. Developmentally, testosterone may sex-differentially impact early fetal brain development by influencing early neuronal development and synaptic mech...