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AAV-delivered diacylglycerol kinase DGKk achieves long-term rescue of fragile X syndrome mouse model.

Habbas K, Cakil O, Zámbó B, Tabet R, Riet F, Dembele D, Mandel JL, Hocquemiller M, Laufer R, Piguet F, Moine H
Embo Mol Med 2022 May 9;14(5):e14649

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Analysis of genome-wide knockout mouse database identifies candidate ciliopathy genes.

Higgins K, Moore BA, Berberovic Z, Adissu HA, Eskandarian M, Flenniken AM, Shao A, Imai DM, Clary D, Lanoue L, Newbigging S, Nutter LMJ, Adams DJ, Bosch F, Braun RE, Brown SDM, Dickinson ME, Dobbie M, Flicek P, Gao X, Galande S, Grobler A, Heaney JD, Herault Y, de Angelis MH, Chin HG, Mammano F, Qin C, Shiroishi T, Sedlacek R, Seong JK, Xu Y, Lloyd KCK, McKerlie C, Moshiri A
Sci Rep 2022 Dec 1;12(1):20791

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Behavioral Testing Design for Evaluation of Cognitive Disabilities.

Riet F, Mittelhaeuser C, Lux A, Bour R, Selloum M, Sorg T, Herault Y, Meziane H
Curr Protoc 2022 Feb;2(2):e382

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Extensive identification of genes involved in congenital and structural heart disorders and cardiomyopathy

Nadine Spielmann, Gregor Miller, Tudor I. Oprea, Chih-Wei Hsu, Gisela Fobo, Goar Frishman, Corinna Montrone, Hamed Haseli Mashhadi, Jeremy Mason, Violeta Munoz Fuentes, Stefanie Leuchtenberger, Andreas Ruepp, Matias Wagner, Dominik S. Westphal, Cordula Wolf, Agnes Görlach, Adrián Sanz-Moreno, Yi-Li Cho, Raffaele Teperino, Stefan Brandmaier, Sapna Sharma, Isabella Rikarda Galter, Manuela A. Östereicher, Lilly Zapf, Philipp Mayer-Kuckuk, Jan Rozman, Lydia Teboul, Rosie K. A. Bunton-Stasyshyn, Heather Cater, Michelle Stewart, Skevoulla Christou, Henrik Westerberg, Amelia M. Willett, Janine M. Wotton, Willson B. Roper, Audrey E. Christiansen, Christopher S. Ward, Jason D. Heaney, Corey L. Reynolds, Jan Prochazka, Lynette Bower, David Clary, Mohammed Selloum, Ghina Bou About, Olivia Wendling, Hugues Jacobs, Sophie Leblanc, Hamid Meziane, Tania Sorg, Enrique Audain, Arthur Gilly, Nigel W. Rayner, IMPC consortium, Genomics England Research Consortium, Marc-Phillip Hitz, Eleftheria Zeggini, Eckhard Wolf, Radislav Sedlacek, Steven A. Murray, Karen L. Svenson, Robert E. Braun, Jaqueline K. White, Lois Kelsey, Xiang Gao, Toshihiko Shiroishi, Ying Xu, Je Kyung Seong, Fabio Mammano, Glauco P. Tocchini-Valentini, Arthur L. Beaudet, Terrence F. Meehan, Helen Parkinson, Damian Smedley, Ann-Marie Mallon, Sara E. Wells, Harald Grallert, Wolfgang Wurst, Susan Marschall, Helmut Fuchs, Steve D. M. Brown, Ann M. Flenniken, Lauryl M. J. Nutter, Colin McKerlie, Yann Herault, K. C. Kent Lloyd, Mary E. Dickinson, Valerie Gailus-Durner & Martin Hrabe de Angelis
Nature 2022

HRAS germline mutations impair LKB1/AMPK signaling and mitochondrial homeostasis in Costello syndrome models.

Dard L, Hubert C, Esteves P, Blanchard W, Bou About G, Baldasseroni L, Dumon E, Angelini C, Delourme M, Guyonnet-Dupérat V, Claverol S, Fontenille L, Kissa K, Séguéla PE, Thambo JB, Nicolas L, Herault Y, Bellance N, Dias Amoedo N, Magdinier F, Sorg T, Lacombe D, Rossignol R
J Clin Invest 2022 Apr 15;132(8):

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Keratinocyte-derived cytokine TSLP promotes growth and metastasis of melanoma by regulating the tumor-associated immune microenvironment.

Yao W, German B, Chraa D, Braud A, Hugel C, Meyer P, Davidson G, Laurette P, Mengus G, Flatter E, Marschall P, Segaud J, Guivarch M, Hener P, Birling MC, Lipsker D, Davidson I, Li M
Jci Insight 2022 Nov 8;7(21):

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Large-Scale Functional Assessment of Genes Involved in Rare Diseases with Intellectual Disabilities Unravels Unique Developmental and Behaviour Profiles in Mouse Models.

Meziane H, Birling MC, Wendling O, Leblanc S, Dubos A, Selloum M, Pavlovic G, Sorg T, Kalscheuer VM, Billuart P, Laumonnier F, Chelly J, van Bokhoven H, Herault Y
Biomedicines 2022 Dec 6;10(12):

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Loss of low-molecular-weight protein tyrosine phosphatase shows limited improvement in glucose tolerance but causes mild cardiac hypertrophy in mice.

Jensen-Cody S, Coyne ES, Ding X, Sebin A, Vogel J, Goldstein J, Rosahl TW, Zhou HH, Jacobs H, Champy MF, About GB, Talukdar S, Zhou Y
Am J Physiol Endocrinol Metab 2022 Jun 1;322(6):E517-E527

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The Human SCN9A (R185H) Point Mutation Induces Pain Hypersensitivity and Spontaneous Pain in Mice.

Xue Y, Kremer M, Muniz Moreno MDM, Chidiac C, Lorentz R, Birling MC, Barrot M, Herault Y, Gaveriaux-Ruff C
Front Mol Neurosci 2022 ;15():913990

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Ts66Yah, a mouse model of Down syndrome with improved construct and face validity.

Duchon A, Del Mar Muñiz Moreno M, Chevalier C, Nalesso V, Andre P, Fructuoso-Castellar M, Mondino M, Po C, Noblet V, Birling MC, Potier MC, Herault Y
Dis Model Mech 2022 Dec 1;15(12):

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