Works matching IS 09646906 AND DT 2025 AND VI 34 AND IP 4

Results: 7

Motor pool selectivity of neuromuscular degeneration in type I spinal muscular atrophy is conserved between human and mouse.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 4, p. 347, doi. 10.1093/hmg/ddae190

By:

Lee, Justin C;
Chung, Wendy K;
Pisapia, David J;
Henderson, Christopher E

Publication type:

Article

TTC7A missense variants in intestinal disease can be classified by molecular and cellular phenotypes.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 4, p. 313, doi. 10.1093/hmg/ddae185

By:

Jeshvaghani, Zahra Shojaei;
Mijnders, Marjolein;
Muffels, Irena;
Beekhuizen, Sander van;
Kotlarz, Daniel;
Lindemans, Caroline A;
Koletzko, Sibylle;
Klein, Christoph;
Mokry, Michal;
Nieuwenhuis, Edward;
Kuijk, Ewart

Publication type:

Article

Dissecting the shared genetic architecture between nonalcoholic fatty liver disease and type 2 diabetes.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 4, p. 338, doi. 10.1093/hmg/ddae184

By:

Liu, Zhenqiu;
Chen, Xiaochen;
Yuan, Huangbo;
Jin, Li;
Zhang, Tiejun;
Chen, Xingdong

Publication type:

Article

Identification of ZNF850 as a novel CTG repeat expansion-related gene in myotonic dystrophy type 1 patient-derived iPSCs.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 4, p. 327, doi. 10.1093/hmg/ddae186

By:

Kamon, Masayoshi;
Wakatsuki, Shuji;
Nakamori, Masayuki;
Takahashi, Masanori P;
Mori-Yoshimura, Madoka;
Komaki, Hirofumi;
Araki, Toshiyuki

Publication type:

Article

Use of patient-derived cell models for characterization of compound heterozygous hypomorphic C2CD3 variants in a patient with isolated nephronophthisis.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 4, p. 368, doi. 10.1093/hmg/ddae182

By:

Sentell, Zachary T;
Mougharbel, Lina;
Nurcombe, Zachary W;
Babayeva, Sima;
Henein, Marc;
Chu, Lee Lee;
Akpa, Murielle M;
Chung, Chen-Fang;
Rivière, Jean-Baptiste;
Pupavac, Mihaela;
Li, Rui;
Rosenblatt, David S;
Majewski, Jacek;
Goodyer, Paul R;
Torban, Elena;
Kitzler, Thomas M

Publication type:

Article

The role of miR-129-5p in regulating γ-globin expression and erythropoiesis in β-thalassemia.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 4, p. 291, doi. 10.1093/hmg/ddae180

By:

Li, Jingmin;
Chen, Meihuan;
Zhao, Wantong;
Lv, Aixiang;
Lin, Siyang;
Zheng, Yanping;
Cai, Meiying;
Lin, Na;
Xu, Liangpu;
Huang, Hailong

Publication type:

Article

Identification of hub genes and biological pathways related to central post-stroke pain in ischemic stroke.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 4, p. 304, doi. 10.1093/hmg/ddae178

By:

Liu, Fude;
Cheng, Yawen;
Han, Xiangning;
Zhu, Ning;
Jiang, Shiliang;
Li, Jiahao;
Ma, Wenlong;
Yu, Jia

Publication type:

Article