Works matching IS 09646906 AND DT 2025 AND VI 34 AND IP 1

Results: 9

4-Phenylbutyric acid mitigates ER stress-induced neurodegeneration in the spinal cords of a GM2 gangliosidosis mouse model.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 1, p. 32, doi. 10.1093/hmg/ddae153

By:

Weaver, Fiona E;
White, Elizabeth;
Peek, Allyson M;
Nurse, Colin A;
Austin, Richard C;
Igdoura, Suleiman A

Publication type:

Article

Stem cell models of TAFAZZIN deficiency reveal novel tissue-specific pathologies in Barth syndrome.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 1, p. 101, doi. 10.1093/hmg/ddae152

By:

Carney, Olivia Sniezek;
Harris, Kodi W;
Wohlfarter, Yvonne;
Lee, Kyuna;
Butschek, Grant;
Anzmann, Arianna F;
Hamacher-Brady, Anne;
Keller, Markus A;
Vernon, Hilary J

Publication type:

Article

SMN depletion impairs skeletal muscle formation and maturation in a mouse model of SMA.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 1, p. 21, doi. 10.1093/hmg/ddae162

By:

Liu, Hong;
Chehade, Lucia;
Deguise, Marc-Olivier;
Repentigny, Yves De;
Kothary, Rashmi

Publication type:

Article

Loss of paired immunoglobin-like type 2 receptor B gene associated with age-related macular degeneration impairs photoreceptor function in mouse retina.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 1, p. 64, doi. 10.1093/hmg/ddae161

By:

Dey, Partha Narayan;
Singh, Nivedita;
Zelinger, Lina;
Batz, Zachary;
Nellissery, Jacob;
Carreiro, Noor D White;
Qian, Haohua;
Li, Tiansen;
Fariss, Robert N;
Dong, Lijin;
Swaroop, Anand

Publication type:

Article

Analysis of genotype effects and inter-individual variability in iPSC-derived trisomy 21 neural progenitor cells.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 1, p. 85, doi. 10.1093/hmg/ddae160

By:

Lee, Sarah E;
Baxter, Laura L;
Duran, Monica I;
Morris, Samuel D;
Mosley, Iman A;
Fuentes, Kevin A;
Pennings, Jeroen L A;
Guedj, Faycal;
Bianchi, Diana W

Publication type:

Article

Exploring susceptibility and therapeutic targets for kidney stones through proteome-wide Mendelian randomization.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 1, p. 47, doi. 10.1093/hmg/ddae159

By:

Jiang, Qinhong;
Su, Xiaozhe;
Liao, Wenbiao;
He, Ziqi;
Wang, Yunhan;
Jiang, Rong;
Dong, Caitao;
Yang, Sixing

Publication type:

Article

Genetic analysis implicates ERAP1 and HLA as risk factors for severe Puumala virus infection.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 1, p. 77, doi. 10.1093/hmg/ddae158

By:

Haapaniemi, Hele;
Strausz, Satu;
Tervi, Anniina;
Jones, Samuel E;
Kanerva, Mari;
FinnGen;
Abner, Erik;
Connolly, Anne-Marie Fors;
Ollila, Hanna M

Publication type:

Article

Characterisation of LGP2 complex multitranscript system in humans: role in the innate immune response and evolution from non-human primates.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 1, p. 11, doi. 10.1093/hmg/ddae155

By:

Martinez-Laso, Jorge;
Cervera, Isabel;
Martinez-Carrasco, Marina S;
Briz, Veronica;
Crespo-Bermejo, Celia;
Sánchez-Menéndez, Clara;
Casado-Fernández, Guiomar;
Torres, Montserrat;
Coiras, Mayte

Publication type:

Article

Alternative polyadenylation shapes the molecular and clinical features of lung adenocarcinoma.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 1, p. 1, doi. 10.1093/hmg/ddae150

By:

Gao, Yipeng;
Shaw, Vikram R;
Amos, Christopher I

Publication type:

Article