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