Works matching IS 09646906 AND DT 2025 AND VI 34 AND IP 14

Results: 9

Rare DCM associated variants in pre-miR-208a disrupt miRNA maturation and function Open Access.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 14, p. 1216, doi. 10.1093/hmg/ddaf069

By:

Reckman, Yolan J;
Haas, Jan;
van der Made, Ingeborg;
Williams, Simon G;
Diaz, Iria Gomez;
Akhtar, Mohammed;
Mogensen, Jens;
Rasmussen, Torsten B;
Villard, Eric;
Charron, Philippe;
Elliott, Perry;
Keavney, Bernard D;
Monserrat, Lorenzo;
Pinto, Yigal M;
Meder, Benjamin;
Tijsen, Anke J

Publication type:

Article

Synaptic defects in adult drosophila motor neurons in a model of amyotrophic lateral sclerosis.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 14, p. 1204, doi. 10.1093/hmg/ddaf068

By:

Malik, Tulika;
Sidisky, Jessica M;
Jones, Sam;
Winters, Alexander;
Hocking, Brandon;
Rotay, Jocelyn;
Huhulea, Ellen N;
Moran, Sara;
Connors, Bali;
Babcock, Daniel T

Publication type:

Article

Mitochondrial dysfunction is driven by imbalanced fission and fusion of mitochondria in myofibrillar myopathy type 5.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 14, p. 1173, doi. 10.1093/hmg/ddaf051

By:

Wu, Wenjing;
Lv, Xiaoqing;
Feng, Yifei;
Yang, Mengqi;
Yang, Guiguan;
Zhao, Dandan;
Yan, Chuanzhu;
Lin, Pengfei

Publication type:

Article

Expression of Concern: A partial reduction of Drp1 improves cognitive behavior and enhances mitophagy, autophagy and dendritic spines in a transgenic Tau mouse model of Alzheimer disease Free.

Published in:: Human Molecular Genetics, 2025, v. 34, n. 14, p. 1254, doi. 10.1093/hmg/ddaf099
Publication type:: Article

Expression of Concern: Hippocampal phosphorylated tau induced cognitive decline, dendritic spine loss and mitochondrial abnormalities in a mouse model of Alzheimer's disease Free.

Published in:: Human Molecular Genetics, 2025, v. 34, n. 14, p. 1253, doi. 10.1093/hmg/ddaf098
Publication type:: Article

Expression of Concern: Hippocampal mutant APP and amyloid beta-induced cognitive decline, dendritic spine loss, defective autophagy, mitophagy and mitochondrial abnormalities in a mouse model of Alzheimer's disease Free.

Published in:: Human Molecular Genetics, 2025, v. 34, n. 14, p. 1252, doi. 10.1093/hmg/ddaf097
Publication type:: Article

Neuromuscular junction transcriptome analysis of spinal and bulbar muscular atrophy mice implicates sarcomere gene expression and calcium flux dysregulation in disease pathogenesis.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 14, p. 1238, doi. 10.1093/hmg/ddaf074

By:

Gromova, Anastasia;
Cha, Byeonggu;
Nguyen, Nhat;
Garg, Diya;
Coscolluela, Connor;
Strickland, Laura M;
Luong, David;
Longo, Fabiana;
Sopher, Bryce L;
ElMallah, Mai K;
Spada, Albert R La

Publication type:

Article

Genome-wide association study for lung cancer in 6531 African Americans reveals new susceptibility loci.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 14, p. 1227, doi. 10.1093/hmg/ddaf059

By:

Byun, Jinyoung;
Han, Younghun;
Choi, Jiyeon;
Sun, Ryan;
Shaw, Vikram R;
Zhu, Catherine;
Xiao, Xiangjun;
Lusk, Christine;
Badr, Hoda;
Lee, Hyun-Sung;
Jang, Hee-Jin;
Li, Yafang;
Lim, Hyeyeun;
Long, Erping;
Liu, Yanhong;
Kachuri, Linda;
Walsh, Kyle M;
Wiencke, John K;
Albanes, Demetrius;
Lam, Stephen

Publication type:

Article

The modifying effect of mutant LRRK2 on mutant GBA1-associated Parkinson disease Open Access.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 14, p. 1184, doi. 10.1093/hmg/ddaf062

By:

Serebryany-Piavsky, Vera;
Egulsky, Lian;
Manoim-Wolkovitz, Julia Elia;
Anis, Saar;
Hassin-Baer, Sharon;
Parnas, Moshe;
Horowitz, Mia

Publication type:

Article