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Works matching IS 09646906 AND DT 2024 AND VI 33 AND IP 4

Results: 6

1

Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 4, p. 355, doi. 10.1093/hmg/ddad188

By:

Allen, James P;
Garber, Kathryn B;
Perszyk, Riley;
Khayat, Cara T;
Kell, Steven A;
Kaneko, Maki;
Quindipan, Catherine;
Saitta, Sulagna;
Ladda, Roger L;
Hewson, Stacy;
Inbar-Feigenberg, Michal;
Prasad, Chitra;
Prasad, Asuri N;
Olewiler, Leah;
Mu, Weiyi;
Rosenthal, Liana S;
Scala, Marcello;
Striano, Pasquale;
Zara, Federico;
McCullock, Tyler W

Publication type:

Article

2

Pan-cancer scRNA-seq analysis reveals immunological and diagnostic significance of the peripheral blood mononuclear cells.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 4, p. 342, doi. 10.1093/hmg/ddad187

By:

Zhang, Yuanhang;
Zhou, Xiaorui;
Zhong, Yu;
Chen, Xi;
Li, Zeyu;
Li, Rui;
Qin, Pengfei;
Wang, Shanshan;
Yin, Jianhua;
Liu, Shang;
Jiang, Miaomiao;
Yu, Qichao;
Hou, Yong;
Liu, Shiping;
Wu, Liang

Publication type:

Article

3

The C-terminal extension of dyskerin is a dyskeratosis congenita mutational hotspot that modulates interaction with telomerase RNA and subcellular localization.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 4, p. 318, doi. 10.1093/hmg/ddad180

By:

Qin, Jian;
Garus, Alexandre;
Autexier, Chantal

Publication type:

Article

4

Whole genome sequencing of 4,787 individuals identifies gene-based rare variants in age-related macular degeneration.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 4, p. 374, doi. 10.1093/hmg/ddad189

By:

Kwong, Alan;
Zawistowski, Matthew;
Fritsche, Lars G;
Zhan, Xiaowei;
Bragg-Gresham, Jennifer;
Branham, Kari E;
Advani, Jayshree;
Othman, Mohammad;
Ratnapriya, Rinki;
Teslovich, Tanya M;
Stambolian, Dwight;
Chew, Emily Y;
Abecasis, Gonçalo R;
Swaroop, Anand

Publication type:

Article

5

A large-scale microRNA transcriptome-wide association study identifies two susceptibility microRNAs, miR-1307-5p and miR-192-3p, for colorectal cancer risk.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 4, p. 333, doi. 10.1093/hmg/ddad185

By:

Chen, Zhishan;
Lin, Weiqiang;
Cai, Qiuyin;
Kweon, Sun-Seog;
Shu, Xiao-Ou;
Tanikawa, Chizu;
Jia, Wei-Hua;
Wang, Ying;
Su, Xinwan;
Yuan, Yuan;
Wen, Wanqing;
Kim, Jeongseon;
Shin, Aesun;
Jee, Sun Ha;
Matsuo, Keitaro;
Kim, Dong-Hyun;
Wang, Nan;
Ping, Jie;
Shin, Min-Ho;
Ren, Zefang

Publication type:

Article

6

Memory decline, anxiety and depression in the mouse model of spinocerebellar ataxia type 3.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 4, p. 299, doi. 10.1093/hmg/ddad179

By:

Marinina, Ksenia S;
Bezprozvanny, Ilya B;
Egorova, Polina A

Publication type:

Article