Works matching IS 09646906 AND DT 2021 AND VI 30 AND IP 10

Results: 9

Ectopic expression of CGG-repeats alters ovarian response to gonadotropins and leads to infertility in a murine FMR1 premutation model.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 10, p. 923, doi. 10.1093/hmg/ddab083

By:

Shelly, Katharine E;
Candelaria, Nicholes R;
Li, Ziyi;
Allen, Emily G;
Jin, Peng;
Nelson, David L

Publication type:

Article

MCOLN1 gene therapy corrects neurologic dysfunction in the mouse model of mucolipidosis IV.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 10, p. 908, doi. 10.1093/hmg/ddab093

By:

DeRosa, Samantha;
Salani, Monica;
Smith, Sierra;
Sangster, Madison;
Miller-Browne, Victoria;
Wassmer, Sarah;
Xiao, Ru;
Vandenberghe, Luk;
Slaugenhaupt, Susan;
Misko, Albert;
Grishchuk, Yulia

Publication type:

Article

Spontaneous seizures and elevated seizure susceptibility in response to somatic mutation of sodium channel Scn8a in the mouse.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 10, p. 902, doi. 10.1093/hmg/ddab092

By:

Yu, Wenxi;
Smolen, Corrine E;
Hill, Sophie F;
Meisler, Miriam H

Publication type:

Article

Aggregating multiple expression prediction models improves the power of transcriptome-wide association studies.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 10, p. 939, doi. 10.1093/hmg/ddab056

By:

Zeng, Ping;
Dai, Jing;
Jin, Siyi;
Zhou, Xiang

Publication type:

Article

Genome-wide polygenic risk score for retinopathy of type 2 diabetes.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 10, p. 952, doi. 10.1093/hmg/ddab067

By:

Forrest, Iain S;
Chaudhary, Kumardeep;
Paranjpe, Ishan;
Vy, Ha My T;
Marquez-Luna, Carla;
Rocheleau, Ghislain;
Saha, Aparna;
Chan, Lili;
Vleck, Tielman Van;
Loos, Ruth J F;
Cho, Judy;
Pasquale, Louis R;
Nadkarni, Girish N;
Do, Ron

Publication type:

Article

Ap2s1 mutation causes hypercalcaemia in mice and impairs interaction between calcium-sensing receptor and adaptor protein-2.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 10, p. 880, doi. 10.1093/hmg/ddab076

By:

Hannan, Fadil M;
Stevenson, Mark;
Bayliss, Asha L;
Stokes, Victoria J;
Stewart, Michelle;
Kooblall, Kreepa G;
Gorvin, Caroline M;
Codner, Gemma;
Teboul, Lydia;
Wells, Sara;
Thakker, Rajesh V

Publication type:

Article

Downregulation of TOP2 modulates neurodegeneration caused by GGGGCC expanded repeats.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 10, p. 893, doi. 10.1093/hmg/ddab079

By:

Jiao, Bin;
Wang, Mengli;
Feng, Hao;
Bao, Han;
Zhang, Feiran;
Wu, Hao;
Wang, Junling;
Tang, Beisha;
Jin, Peng;
Shen, Lu

Publication type:

Article

Protective effects of antidepressant citalopram against abnormal APP processing and amyloid beta-induced mitochondrial dynamics, biogenesis, mitophagy and synaptic toxicities in Alzheimer's disease.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 10, p. 847, doi. 10.1093/hmg/ddab054

By:

Reddy, Arubala P;
Yin, Xiangling;
Sawant, Neha;
Reddy, P Hemachandra

Publication type:

Article

Loss of ten-eleven translocation 2 induces cardiac hypertrophy and fibrosis through modulating ERK signaling pathway.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 10, p. 865, doi. 10.1093/hmg/ddab046

By:

Tao, Huikang;
Xu, Weize;
Qu, Wenzheng;
Gao, Hui;
Zhang, Jinyu;
Cheng, Xuejun;
Liu, Ning;
Chen, Jinghai;
Xu, Guo-Liang;
Li, Xuekun;
Shu, Qiang

Publication type:

Article