Gain-of-Function MN1 Truncation Variants Cause a Recognizable Syndrome with Craniofacial and Brain Abnormalities

Author:

Miyake Noriko,Takahashi Hidehisa,Nakamura Kazuyuki,Isidor Bertrand,Hiraki Yoko,Koshimizu Eriko,Shiina Masaaki,Sasaki Kazunori,Suzuki Hidefumi,Abe Ryota,Kimura Yayoi,Akiyama Tomoko,Tomizawa Shin-ichi,Hirose Tomonori,Hamanaka Kohei,Miyatake Satoko,Mitsuhashi Satomi,Mizuguchi Takeshi,Takata Atsushi,Obo Kazuyuki,Kato Mitsuhiro,Ogata Kazuhiro,Matsumoto Naomichi

Funder

AMED

JSPS KAKENHI

Ministry of Health, Labor, and Welfare

Takeda Science Foundation

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference53 articles.

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2. Translocation (12;22) (p13;q11) in myeloproliferative disorders results in fusion of the ETS-like TEL gene on 12p13 to the MN1 gene on 22q11;Buijs;Oncogene,1995

3. High meningioma 1 (MN1) expression as a predictor for poor outcome in acute myeloid leukemia with normal cytogenetics;Heuser;Blood,2006

4. The MN1 oncoprotein synergizes with coactivators RAC3 and p300 in RAR-RXR-mediated transcription;van Wely;Oncogene,2003

5. A direct repeat in the cellular retinol-binding protein type II gene confers differential regulation by RXR and RAR;Mangelsdorf;Cell,1991

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