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Addendum

Natural breaking of the maternal silence at the mouse and human imprinted Prader-Willi locus

A whisper with functional consequences

Valery Matarazzo Aix-Marseille Université; INMED UMR 901; Marseille, France

Françoise Muscatelli Aix-Marseille Université; INMED UMR 901; Marseille, FranceCorrespondence[email protected]

Article: e27228 | Received 27 Oct 2013, Accepted 15 Nov 2013, Published online: 12 Dec 2013

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https://doi.org/10.4161/rdis.27228

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Maria Camila Hoyos Sanchez, Tara Bayat, Rebecca R. Florke Gee & Klementina Fon Tacer. (2023) Hormonal Imbalances in Prader–Willi and Schaaf–Yang Syndromes Imply the Evolution of Specific Regulation of Hypothalamic Neuroendocrine Function in Mammals. International Journal of Molecular Sciences 24:17, pages 13109.
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Derek L. Reznik, Mingxiao V. Yang, Pedro Albelda de la Haza, Antrix Jain, Melanie Spanjaard, Susanne Theiss, Christian P. Schaaf, Anna Malovannaya, Theresa V. Strong, Surabi Veeraragavan & Rodney C. Samaco. (2023) Magel2 truncation alters select behavioral and physiological outcomes in a rat model of Schaaf-Yang syndrome . Disease Models & Mechanisms 16:2.
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Laura Caccialupi Da Prato, Ugo Zayan, Dina Abdallah, Vanessa Point, Fabienne Schaller, Emilie Pallesi-Pocachard, Aurélie Montheil, Stéphane Canaan, Jean-Luc Gaiarsa, Françoise Muscatelli & Valéry Matarazzo. (2022) Early life oxytocin treatment improves thermo-sensory reactivity and maternal behavior in neonates lacking the autism-associated gene Magel2. Neuropsychopharmacology 47:11, pages 1901-1912.
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Annamaria Srancikova, Zuzana Bacova & Jan Bakos. (2021) The epigenetic regulation of synaptic genes contributes to the etiology of autism. Reviews in the Neurosciences 32:7, pages 791-802.
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Alexandra Reichova, Fabienne Schaller, Stanislava Bukatova, Zuzana Bacova, Françoise Muscatelli & Jan Bakos. (2021) The impact of oxytocin on neurite outgrowth and synaptic proteins in Magel2 ‐deficient mice . Developmental Neurobiology 81:4, pages 366-388.
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Rebecca R. Florke Gee, Helen Chen, Anna K. Lee, Christina A. Daly, Benjamin A. Wilander, Klementina Fon Tacer & Patrick Ryan Potts. (2020) Emerging roles of the MAGE protein family in stress response pathways. Journal of Biological Chemistry 295:47, pages 16121-16155.
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Molly Mishler Thomason, John McCarthy, Robin P. Goin-Kochel, Lauren R. Dowell, Christian P. Schaaf & Leandra N. Berry. (2018) Neurocognitive and Neurobehavioral Phenotype of Youth with Schaaf-Yang Syndrome. Journal of Autism and Developmental Disorders 50:7, pages 2491-2500.
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Cornelia N. Stacher Hörndli, Eleanor Wong, Elliott Ferris, Kathleen Bennett, Susan Steinwand, Alexis Nikole Rhodes, P. Thomas Fletcher & Christopher Gregg. (2019) Complex Economic Behavior Patterns Are Constructed from Finite, Genetically Controlled Modules of Behavior. Cell Reports 28:7, pages 1814-1829.e6.
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Wei Guo, Yanli Nie, Zhiqiang Yan, Xiaohui Zhu, Yuqian Wang, Shuo Guan, Ying Kuo, Wenxin Zhang, Xu Zhi, Yuan Wei, Liying Yan & Jie Qiao. (2019) Genetic testing and PGD for unexplained recurrent fetal malformations with MAGEL2 gene mutation. Science China Life Sciences 62:7, pages 886-894.
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K. Vanessa Carias & Rachel Wevrick. (2019) Preclinical Testing in Translational Animal Models of Prader-Willi Syndrome: Overview and Gap Analysis. Molecular Therapy - Methods & Clinical Development 13, pages 344-358.
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Satoshi Akamine, Noriaki Sagata, Yasunari Sakai, Takahiro A. Kato, Takeshi Nakahara, Yuki Matsushita, Osamu Togao, Akio Hiwatashi, Masafumi Sanefuji, Yoshito Ishizaki, Hiroyuki Torisu, Hirotomo Saitsu, Naomichi Matsumoto, Toshiro Hara, Akira SawaShinichi KanoMasutaka Furue, Shigenobu Kanba, Chad A. ShawShouichi Ohga. (2017) Early‐onset epileptic encephalopathy and severe developmental delay in an association with de novo double mutations in NF1 and MAGEL2 . Epilepsia Open 3:1, pages 81-85.
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Klementina Fon TacerPatrick Ryan Potts. (2017) Cellular and disease functions of the Prader–Willi Syndrome gene MAGEL2 . Biochemical Journal 474:13, pages 2177-2190.
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Michael D. Fountain, Emmelien Aten, Megan T. Cho, Jane Juusola, Magdalena A. Walkiewicz, Joseph W. Ray, Fan Xia, Yaping Yang, Brett H. Graham, Carlos A. Bacino, Lorraine Potocki, Arie van Haeringen, Claudia A.L. Ruivenkamp, Pedro Mancias, Hope Northrup, Mary K. Kukolich, Marjan M. Weiss, Conny M.A. van Ravenswaaij-Arts, Inge B. Mathijssen, Sebastien Levesque, Naomi Meeks, Jill A. Rosenfeld, Danielle Lemke, Ada Hamosh, Suzanne K. Lewis, Simone Race, Laura L. Stewart, Beverly Hay, Andrea M. Lewis, Rita L. Guerreiro, Jose T. Bras, Marcia P. Martins, Gerarda Derksen-Lubsen, Els Peeters, Connie Stumpel, Sander Stegmann, Levinus A. Bok, Gijs W.E. Santen & Christian P. Schaaf. (2016) The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families. Genetics in Medicine 19:1, pages 45-52.
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Dan Mejlachowicz, Flora Nolent, Jérome Maluenda, Hanitra Ranjatoelina-Randrianaivo, Fabienne Giuliano, Ivo Gut, Damien Sternberg, Annie Laquerrière & Judith Melki. (2015) Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis. The American Journal of Human Genetics 97:4, pages 616-620.
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Natural breaking of the maternal silence at the mouse and human imprinted Prader-Willi locus

A whisper with functional consequences

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Natural breaking of the maternal silence at the mouse and human imprinted Prader-Willi locus

A whisper with functional consequences

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