Works matching IS 09646906 AND DT 2021 AND VI 30 AND IP 11

Results: 9

Pharmacological activation of SERCA ameliorates dystrophic phenotypes in dystrophin-deficient mdx mice.
Published in:
Human Molecular Genetics, 2021, v. 30, n. 11, p. 1006, doi. 10.1093/hmg/ddab100
By:
- Nogami, Ken'ichiro;
- Maruyama, Yusuke;
- Sakai-Takemura, Fusako;
- Motohashi, Norio;
- Elhussieny, Ahmed;
- Imamura, Michihiro;
- Miyashita, Satoshi;
- Ogawa, Megumu;
- Noguchi, Satoru;
- Tamura, Yuki;
- Kira, Jun-ichi;
- Aoki, Yoshitsugu;
- Takeda, Shin'ichi;
- Miyagoe-Suzuki, Yuko
Publication type:
Article
Proteomic analysis of aged and OPTN E50K retina in the development of normal tension glaucoma.
Published in:
Human Molecular Genetics, 2021, v. 30, n. 11, p. 1030, doi. 10.1093/hmg/ddab099
By:
- Liu, Xinna;
- Wang, Qi;
- Shao, Zhengbo;
- Zhang, Shiqi;
- Hou, Mingying;
- Jiang, Menglu;
- Du, Mengxian;
- Li, Jing;
- Yuan, Huiping
Publication type:
Article
The alternative initiation factor eIF2A plays key role in RAN translation of myotonic dystrophy type 2 CCUG•CAGG repeats.
Published in:
Human Molecular Genetics, 2021, v. 30, n. 11, p. 1020, doi. 10.1093/hmg/ddab098
By:
- Tusi, Solaleh Khoramian;
- Nguyen, Lien;
- Thangaraju, Kiruphagaran;
- Li, Jian;
- Cleary, John D;
- Zu, Tao;
- Ranum, Laura P W
Publication type:
Article
FOXO1 controls protein synthesis and transcript abundance of mutant polyglutamine proteins, preventing protein aggregation.
Published in:
Human Molecular Genetics, 2021, v. 30, n. 11, p. 996, doi. 10.1093/hmg/ddab095
By:
- Furtado, Gabriel Vasata;
- Yang, Jing;
- Wu, Di;
- Papagiannopoulos, Christos I;
- Terpstra, Hanna M;
- Kuiper, E F Elsiena;
- Krauss, Sybille;
- Zhu, Wei-Guo;
- Kampinga, Harm H;
- Bergink, Steven
Publication type:
Article
Generation and characterization of a P2rx2 V60L mouse model for DFNA41.
Published in:
Human Molecular Genetics, 2021, v. 30, n. 11, p. 985, doi. 10.1093/hmg/ddab077
By:
- Chen, Xiaoya;
- Abad, Clemer;
- Chen, Zheng-yi;
- Young, Juan I;
- Gurumurthy, Channabasavaiah B;
- Walz, Katherina;
- Liu, Xue Zhong
Publication type:
Article
ALS/FTD-causing mutation in cyclin F causes the dysregulation of SFPQ.
Published in:
Human Molecular Genetics, 2021, v. 30, n. 11, p. 971, doi. 10.1093/hmg/ddab073
By:
- Rayner, Stephanie L;
- Cheng, Flora;
- Hogan, Alison L;
- Grima, Natalie;
- Yang, Shu;
- Ke, Yazi D;
- Au, Carol G;
- Morsch, Marco;
- Luca, Alana De;
- Davidson, Jennilee M;
- Molloy, Mark P;
- Shi, Bingyang;
- Ittner, Lars M;
- Blair, Ian;
- Chung, Roger S;
- Lee, Albert
Publication type:
Article
Common genetic variants with fetal effects on birth weight are enriched for proximity to genes implicated in rare developmental disorders.
Published in:
Human Molecular Genetics, 2021, v. 30, n. 11, p. 1057, doi. 10.1093/hmg/ddab060
By:
- Beaumont, Robin N;
- Mayne, Isabelle K;
- Freathy, Rachel M;
- Wright, Caroline F
Publication type:
Article
Novel risk factors for craniofacial microsomia and assessment of their utility in clinic diagnosis.
Published in:
Human Molecular Genetics, 2021, v. 30, n. 11, p. 1045, doi. 10.1093/hmg/ddab055
By:
- Xu, Xiaopeng;
- Wang, Bingqing;
- Jiang, Zhuoyuan;
- Chen, Qi;
- Mao, Ke;
- Shi, Xiaofeng;
- Yan, Chun;
- Hu, Jintian;
- Zha, Yan;
- Ma, Chao;
- Zhang, Jiao;
- Guo, Rui;
- Wang, Liguo;
- Zhao, Shouqin;
- Liu, Huisheng;
- Zhang, Qingguo;
- Zhang, Yong-Biao
Publication type:
Article
Genes influenced by MEF2C contribute to neurodevelopmental disease via gene expression changes that affect multiple types of cortical excitatory neurons.
Published in:
Human Molecular Genetics, 2021, v. 30, n. 11, p. 961, doi. 10.1093/hmg/ddaa213
By:
- Cosgrove, Donna;
- Whitton, Laura;
- Fahey, Laura;
- Broin, Pilib Ó;
- Donohoe, Gary;
- Morris, Derek W
Publication type:
Article