Works matching IS 09646906 AND DT 2022 AND VI 31 AND IP 2

Results: 13

Temporal dissection of Rai1 function reveals brain-derived neurotrophic factor as a potential therapeutic target for Smith–Magenis syndrome.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 2, p. 275, doi. 10.1093/hmg/ddab245

By:

Javed, Sehrish;
Lee, Yu-Ju;
Xu, Jin;
Huang, Wei-Hsiang

Publication type:

Article

Protective effects of a small molecule inhibitor ligand against hyperphosphorylated tau-induced mitochondrial and synaptic toxicities in Alzheimer disease.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 2, p. 244, doi. 10.1093/hmg/ddab244

By:

Pradeepkiran, Jangampalli Adi;
Munikumar, Manne;
Reddy, Arubala P;
Reddy, P Hemachandra

Publication type:

Article

transcriptome-wide association study identifies novel susceptibility genes for psoriasis.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 2, p. 300, doi. 10.1093/hmg/ddab237

By:

Zhu, Dongli;
Yao, Shi;
Wu, Hao;
Ke, Xin;
Zhou, Xiaorong;
Geng, Songmei;
Dong, Shanshan;
Chen, Hao;
Yang, Tielin;
Cheng, Ying;
Guo, Yan

Publication type:

Article

Myotonic dystrophy type 1 (DM1) clinical subtypes and CTCF site methylation status flanking the CTG expansion are mutant allele length-dependent.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 2, p. 262, doi. 10.1093/hmg/ddab243

By:

Morales, Fernando;
Corrales, Eyleen;
Zhang, Baili;
Vásquez, Melissa;
Santamaría-Ulloa, Carolina;
Quesada, Hazel;
Sirito, Mario;
Estecio, Marcos R;
Monckton, Darren G;
Krahe, Ralf

Publication type:

Article

Epigenome-wide association study of mitochondrial genome copy number.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 2, p. 309, doi. 10.1093/hmg/ddab240

By:

Wang, Penglong;
Castellani, Christina A;
Yao, Jie;
Huan, Tianxiao;
Bielak, Lawrence F;
Zhao, Wei;
Haessler, Jeffrey;
Joehanes, Roby;
Sun, Xianbang;
Guo, Xiuqing;
Longchamps, Ryan J;
Manson, JoAnn E;
Grove, Megan L;
Bressler, Jan;
Taylor, Kent D;
Lappalainen, Tuuli;
Kasela, Silva;
Berg, David J Van Den;
Hou, Lifang;
Reiner, Alexander

Publication type:

Article

Nphp1 knockout mouse model targeting exon 2–20 demonstrates characteristic phenotypes of human nephronophthisis.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 2, p. 232, doi. 10.1093/hmg/ddab239

By:

Li, Dantong;
Hu, Miaoyue;
Chen, Huamu;
Wu, Xiaohong;
Wei, Xiaoya;
Lin, Hongrong;
Gao, Xuefei;
Wang, Haiyan;
Li, Min;
Ong, Albert C M;
Yue, Zhihui;
Sun, Liangzhong

Publication type:

Article

Loss-of-function missense variant of AKAP4 induced male infertility through reduced interaction with QRICH2 during sperm flagella development.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 2, p. 219, doi. 10.1093/hmg/ddab234

By:

Zhang, Guohui;
Li, Dongyan;
Tu, Chaofeng;
Meng, Lanlan;
Tan, Yueqiu;
Ji, Zhiliang;
Cheng, Jiao;
Lu, Guangxiu;
Lin, Ge;
Zhang, Huan;
Sun, Jinpeng;
Wang, Mingwei;
Du, Juan;
Xu, Wenming

Publication type:

Article

autism risk gene CNTN4 modulates dendritic spine formation.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 2, p. 207, doi. 10.1093/hmg/ddab233

By:

Zhao, Rongjuan;
Zhu, Tengfei;
Liu, Qiong;
Tian, Qi;
Wang, Meng;
Chen, Jingjing;
Tong, Dali;
Yu, Bin;
Guo, Hui;
Xia, Kun;
Qiu, Zilong;
Hu, Zhengmao

Publication type:

Article

SS-31 efficacy in a mouse model of Friedreich ataxia by upregulation of frataxin expression.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 2, p. 176, doi. 10.1093/hmg/ddab232

By:

Liu, Yutong;
Cai, Jing;
Shen, Jiaqi;
Dong, Weichen;
Xu, Li;
Fang, Maoxin;
Lin, Yishan;
Liu, Jiali;
Ding, Yibing;
Qiao, Tong;
Li, Kuanyu

Publication type:

Article

Myeloid cell-mediated targeting of LIF to dystrophic muscle causes transient increases in muscle fiber lesions by disrupting the recruitment and dispersion of macrophages in muscle.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 2, p. 189, doi. 10.1093/hmg/ddab230

By:

Flores, Ivan;
Welc, Steven S;
Wehling-Henricks, Michelle;
Tidball, James G

Publication type:

Article

transcriptome-wide association study identifies novel blood-based gene biomarker candidates for Alzheimer's disease risk.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 2, p. 289, doi. 10.1093/hmg/ddab229

By:

Sun, Yanfa;
Zhou, Dan;
Rahman, Md Rezanur;
Zhu, Jingjing;
Ghoneim, Dalia;
Cox, Nancy J;
Beach, Thomas G;
Wu, Chong;
Gamazon, Eric R;
Wu, Lang

Publication type:

Article

Cytoplasmic TDP-43 is involved in cell fate during stress recovery.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 2, p. 166, doi. 10.1093/hmg/ddab227

By:

Lee, Youn-Bok;
Scotter, Emma L;
Lee, Do-Young;
Troakes, Claire;
Mitchell, Jacqueline;
Rogelj, Boris;
Gallo, Jean-Marc;
Shaw, Christopher E

Publication type:

Article

Common variants in SCN10A gene associated with Brugada syndrome.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 2, p. 157, doi. 10.1093/hmg/ddab217

By:

Huang, Yan;
Chen, Xiao-Meng;
Barajas-Martinez, Hector;
Jiang, Hong;
Antzelevitch, Charles;
Hu, Dan

Publication type:

Article