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Emmanuelle Szenker-Ravi
Researcher at Agency for Science, Technology and Research
Publications - 12
Citations - 257
Emmanuelle Szenker-Ravi is an academic researcher from Agency for Science, Technology and Research. The author has contributed to research in topics: Wnt signaling pathway & Mesenchyme. The author has an hindex of 5, co-authored 10 publications receiving 143 citations. Previous affiliations of Emmanuelle Szenker-Ravi include Children's Institute Inc..
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Journal ArticleDOI
RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6
Emmanuelle Szenker-Ravi,Umut Altunoglu,Marc Leushacke,Célia Bosso-Lefèvre,Célia Bosso-Lefèvre,Muznah Khatoo,Hong Thi Tran,Thomas Naert,Rivka Noelanders,Amin Hajamohideen,Claire Beneteau,Sérgio B. Sousa,Birsen Karaman,Xenia Latypova,Seher Başaran,Esra Börklü Yücel,Thong Teck Tan,Lena Vlaminck,Shalini S. Nayak,Anju Shukla,Katta M. Girisha,Cédric Le Caignec,Natalia Soshnikova,Zehra Oya Uyguner,Kris Vleminckx,Nick Barker,Nick Barker,Nick Barker,Hülya Kayserili,Hülya Kayserili,Bruno Reversade +30 more
TL;DR: It is established that RSPO2, without the LGR4/5/6 receptors, serves as a direct antagonistic ligand to RNF43 and ZNRF3, which together constitute a master switch that governs limb specification, which has direct implications for regenerative medicine and WNT-associated cancers.
Journal ArticleDOI
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy
Holger Hengel,Holger Hengel,Célia Bosso-Lefèvre,Célia Bosso-Lefèvre,George Grady,Emmanuelle Szenker-Ravi,Hankun Li,Sarah B. Pierce,Élise Lebigot,Thong Teck Tan,Michelle Eio,Gunaseelan Narayanan,Kagistia Hana Utami,Monica Yau,Nader Handal,Werner Deigendesch,Reinhard Keimer,Hiyam M. Marzouqa,Meral Gunay-Aygun,Michael Muriello,Helene Verhelst,Sarah Weckhuysen,Sarah Weckhuysen,Sonal Mahida,Sakkubai Naidu,Terrence Thomas,Jiin Ying Lim,Jiin Ying Lim,Ee Shien Tan,Ee Shien Tan,Damien Haye,Michèl A.A.P. Willemsen,Renske Oegema,Wendy G. Mitchell,Tyler Mark Pierson,Marisa V. Andrews,Marcia C. Willing,Lance H. Rodan,Tahsin Stefan Barakat,Marjon van Slegtenhorst,Ralitza H. Gavrilova,Diego Martinelli,Tal Gilboa,Abdullah Tamim,Mais Hashem,Moeenaldeen Al-Sayed,Maha Abdulrahim,Mohammed Al-Owain,Ali Awaji,Adel A H Mahmoud,Eissa Faqeih,Ali Al Asmari,Sulwan M. Algain,Lamyaa A. Jad,Hesham Aldhalaan,Ingo Helbig,David A. Koolen,Angelika Riess,I. Kraegeloh-Mann,Peter Bauer,Suleyman Gulsuner,Hannah Stamberger,Hannah Stamberger,Alvin Yu Jin Ng,Sha Tang,Sumanty Tohari,Boris Keren,Laura Schultz-Rogers,Eric W. Klee,Sabina Barresi,Marco Tartaglia,Hagar Mor-Shaked,Sateesh Maddirevula,Amber Begtrup,Aida Telegrafi,Rolph Pfundt,Rebecca Schüle,Rebecca Schüle,Brian Ciruna,Carine Bonnard,Mahmoud A. Pouladi,Mahmoud A. Pouladi,James C. Stewart,Adam Claridge-Chang,Adam Claridge-Chang,Dirk Lefeber,Fowzan S. Alkuraya,Ajay S. Mathuru,Ajay S. Mathuru,Byrappa Venkatesh,Byrappa Venkatesh,Joseph J. Barycki,Melanie A. Simpson,Saumya Shekhar Jamuar,Ludger Schöls,Ludger Schöls,Bruno Reversade +96 more
TL;DR: Biallelic variants in the gene encoding UDP-Glucose 6-Dehydrogenase (UGDH) in individuals affected by developmental epileptic encephalopathies that impair UGDH stability, oligomerization, or enzymatic activity in vitro are reported.
Journal ArticleDOI
Next-generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy.
Hui Liu,Anna‐Gaëlle Giguet‐Valard,Thomas Simonet,Emmanuelle Szenker-Ravi,Laetitia Lambert,Catherine Vincent-Delorme,Sophie Scheidecker,Mélanie Fradin,Fanny Morice-Picard,Sophie Naudion,Viorica Ciorna‐Monferrato,Estelle Colin,Florence Fellmann,Sophie Blesson,Pierre-Simon Jouk,Christine Francannet,Florence Petit,Sébastien Moutton,Daphné Lehalle,Nicolas Chassaing,Loubna El Zein,Anne Bazin,Claire Beneteau,Tania Attié-Bitach,Sylvie Manouvrier Hanu,Marie-Pierre Brechard,Jean Chiesa,Laurent Pasquier,Caroline Rooryck-Thambo,Lionel Van Maldergem,Christelle Cabrol,Salima El Chehadeh,Alexandre Vasiljevic,Bertrand Isidor,Carine Abel,Julien Thevenon,Sylvie Di Filippo,A. Vigouroux-Castera,Jocelyne Attia,Chloé Quélin,Sylvie Odent,Juliette Piard,Fabienne Giuliano,Audrey Putoux,Philippe Khau Van Kien,Catherine Yardin,Renaud Touraine,Bruno Reversade,Patrice Bouvagnet +48 more
TL;DR: After removing fetuses with cytogenetic anomalies, next‐generation sequencing discovered a causal variant in 12.5% of fetal cases with CHD and/or heterotaxy and genetic counseling for future pregnancies was greatly improved.
Journal ArticleDOI
A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt Secretion.
Guoliang Chai,Guoliang Chai,Guoliang Chai,Emmanuelle Szenker-Ravi,Emmanuelle Szenker-Ravi,Changuk Chung,Zhen Li,Zhen Li,Lu Wang,Lu Wang,Muznah Khatoo,Trevor Marshall,Trevor Marshall,Nan Jiang,Nan Jiang,Xiaoxu Yang,Xiaoxu Yang,Jennifer McEvoy-Venneri,Jennifer McEvoy-Venneri,Valentina Stanley,Valentina Stanley,Paula Anzenberg,Nhi Lang,Nhi Lang,Vanessa Wazny,Jia Yu,David M. Virshup,David M. Virshup,Rie Nygaard,Filippo Mancia,Rijad Merdzanic,Maria Betânia Pereira Toralles,Paula Monique Leite Pitanga,Ratna Dua Puri,Rebecca Hernan,Wendy K. Chung,Aida M. Bertoli-Avella,Nouriya Al-Sannaa,Maha S. Zaki,Karl Willert,Bruno Reversade,Joseph G. Gleeson,Joseph G. Gleeson +42 more
TL;DR: In this article, homozygous mutations affecting a central Wnt regulator caused syndromic structural birth defects, including microcephaly and facial dysmorphism, as well as foot syndactyly, renal agenesis, alopecia, iris coloboma and heart defects.
Posted ContentDOI
R-SPONDIN2+ Mesenchymal Cells Form the Bud Tip Progenitor Niche During Human Lung Development
Renee F.C. Hein,Joshua H. Wu,Yu-Hwai Tsai,Angeline Wu,Alyssa J. Miller,Emily M. Holloway,Tristan Frum,Ansley S. Conchola,Emmanuelle Szenker-Ravi,Bruno Reversade,Kelley S. Yan,Calvin J. Kuo,Jason R. Spence +12 more
TL;DR: In this article, single cell RNA sequencing data from multiple human lung specimens and identified a mesenchymal cell population present during development that is highly enriched for expression of the WNT agonist R-SPONDIN2 (RSPO2), and adjacent epithelial bud tip progenitors are enriched for the RSPO 2 receptor LGR5.