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We are interested in how gene dosage imbalance causes human neurodevelopmental disorders such as autism spectrum disorders (ASDs) and intellectual disability. Understanding these disorders on molecular, cellular, neural circuit, and behavioral levels will provide therapeutic avenues and ultimately improve patients’ quality of life. We model gene dosage imbalance in a pair of syndromic ASDs: Smith−Magenis Syndrome (SMS), caused by loss of a Retinoic Acid Induced 1 (RAI1), and Potocki−Lupski Syndrome (PTLS), caused by gain of RAI1.
RAI1 is a chromatin-interacting protein that regulates many genes involved in neural circuit assembly. We are also interested in its interacting partner TCF20, which is mutated in patients who suffer from intellectual disability and ASDs.
RAI1 is a chromatin-interacting protein that regulates many genes involved in neural circuit assembly. We are also interested in its interacting partner TCF20, which is mutated in patients who suffer from intellectual disability and ASDs.
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论文共 27 篇作者统计合作学者相似作者
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Ya-Ting Chang,Yu-Ju Lee, Minza Haque,Hao-Cheng Chang,Sehrish Javed,Yu Cheng Lin, Yoobin Cho, Joseph Abramovitz, Gabriella Chin, Asma Khamis,Reesha Raja,Keith K. Murai,
JOURNAL OF COMPARATIVE NEUROLOGYno. 1 (2024): e25589-e25589
Sehrish Javed,Ya-Ting Chang, Yoobin Cho,Yu-Ju Lee,Hao-Cheng Chang, Minza Haque,Yu Cheng Lin,Wei-Hsiang Huang
biorxiv(2023)
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Sundus Javed, Yao-Tang Chang, Y.-S. Cho,Yu-Ju Lee, Hui S. Chang,Minza Haque,Yu‐Cheng Lin,Wei-Hsiang Huang
eLife (2023)
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Ya-Ting Chang, Max Kowalczyk, P. Michelle Fogerson,Yu-Ju Lee, Minza Haque,David C. Wang, A. DeNardo,Marc Tessier-Lavigne,John R. Huguenard,Eliza L. Adams,Liqun Luo,Wei-Hsiang Huang
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICAno. 52 (2022)
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The Journal of biological chemistryno. 1 (2022): 102728-102728
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