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

Results: 9

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
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
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