التفاصيل البيبلوغرافية
العنوان:
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders
المؤلفون:
Hui Guo , Elisa Bettella , Paul C. Marcogliese , Rongjuan Zhao , Jonathan C. Andrews , Tomasz J. Nowakowski , Madelyn A. Gillentine , Kendra Hoekzema , Tianyun Wang , Huidan Wu , Sharayu Jangam , Cenying Liu , Hailun Ni , Marjolein H. Willemsen , Bregje W. van Bon , Tuula Rinne , Servi J. C. Stevens , Tjitske Kleefstra , Han G. Brunner , Helger G. Yntema , Min Long , Wenjing Zhao , Zhengmao Hu , Cindy Colson , Nicolas Richard , Charles E. Schwartz , Corrado Romano , Lucia Castiglia , Maria Bottitta , Shweta U. Dhar , Deanna J. Erwin , Lisa Emrick , Boris Keren , Alexandra Afenjar , Baosheng Zhu , Bing Bai , Pawel Stankiewicz , Kristin Herman , University of Washington Center for Mendelian Genomics , Saadet Mercimek-Andrews , Jane Juusola , Amy B. Wilfert , Rami Abou Jamra , Benjamin Büttner , Heather C. Mefford , Alison M. Muir , Ingrid E. Scheffer , Brigid M. Regan , Stephen Malone , Jozef Gecz , Jan Cobben , Marjan M. Weiss , Quinten Waisfisz , Emilia K. Bijlsma , Mariëtte J. V. Hoffer , Claudia A. L. Ruivenkamp , Stefano Sartori , Fan Xia , Jill A. Rosenfeld , Raphael A. Bernier , Michael F. Wangler , Shinya Yamamoto , Kun Xia , Alexander P. A. Stegmann , Hugo J. Bellen , Alessandra Murgia , Evan E. Eichler
المصدر:
Nature Communications, Vol 10, Iss 1, Pp 1-17 (2019)
بيانات النشر:
Nature Portfolio, 2019.
سنة النشر:
2019
المجموعة:
LCC:Science
مصطلحات موضوعية:
Science
الوصف:
Neurodevelopmental disorders (NDDs) are a heterogeneous group of diseases for which the genetic basis is still unknown in more than half of the cases. Here, the authors report a NDD associated with disruptive variants in the TANC2 gene and show that rols, the TANC2 homolog in flies, is required for synapse growth and function.
نوع الوثيقة:
article
وصف الملف:
electronic resource
اللغة:
English
تدمد:
2041-1723
العلاقة:
https://doaj.org/toc/2041-1723Test
DOI:
10.1038/s41467-019-12435-8
الوصول الحر:
https://doaj.org/article/663adb56ce6f405da787645af9303af8Test
رقم الانضمام:
edsdoj.663adb56ce6f405da787645af9303af8
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