Works matching IS 09646906 AND DT 2024 AND VI 33 AND IP 1

Results: 9

Correction to: Potentiation of neuromuscular transmission by a small molecule calcium channel gating modifier improves motor function in a severe spinal muscular atrophy mouse model.
Published in:
Human Molecular Genetics, 2024, v. 33, n. 1, p. 102, doi. 10.1093/hmg/ddad190
Publication type:
Article
Disrupted phase behavior of FUS underlies poly-PR-induced DNA damage in amyotrophic lateral sclerosis.
Published in:
Human Molecular Genetics, 2024, v. 33, n. 1, p. 64, doi. 10.1093/hmg/ddad163
By:
- Wang, Yixin;
- Liu, Liu;
- Chen, Hui;
- Yang, Yinxue;
- Mu, Chenchen;
- Ren, Haigang;
- Liu, Yanli;
- Yu, Liqiang;
- Fang, Qi;
- Wang, Guanghui;
- Hao, Zongbing
Publication type:
Article
Isogenic pairs of induced-pluripotent stem-derived endothelial cells identify DYRK1A/PPARG/EGR1 pathway is responsible for Down syndrome-associated pulmonary hypertension.
Published in:
Human Molecular Genetics, 2024, v. 33, n. 1, p. 78, doi. 10.1093/hmg/ddad162
By:
- Suginobe, Hidehiro;
- Ishida, Hidekazu;
- Ishii, Yoichiro;
- Ueda, Kazutoshi;
- Yoshihara, Chika;
- Ueyama, Atsuko;
- Wang, Renjie;
- Tsuru, Hirofumi;
- Hashimoto, Kazuhisa;
- Hirose, Masaki;
- Ishii, Ryo;
- Narita, Jun;
- Kitabatake, Yasuji;
- Ozono, Keiichi
Publication type:
Article
CHCHD10 mutations induce tissue-specific mitochondrial DNA deletions with a distinct signature.
Published in:
Human Molecular Genetics, 2024, v. 33, n. 1, p. 91, doi. 10.1093/hmg/ddad161
By:
- Shammas, Mario K;
- Nie, Yu;
- Gilsrud, Alexandra;
- Huang, Xiaoping;
- Narendra, Derek P;
- Chinnery, Patrick F
Publication type:
Article
Investigation of common genetic risk factors between thyroid traits and breast cancer.
Published in:
Human Molecular Genetics, 2024, v. 33, n. 1, p. 38, doi. 10.1093/hmg/ddad159
By:
- Lucotte, Elise A;
- Asgari, Yazdan;
- Sugier, Pierre-Emmanuel;
- Karimi, Mojgan;
- Domenighetti, Cloé;
- Lesueur, Fabienne;
- Boland-Augé, Anne;
- Ostroumova, Evgenia;
- Vathaire, Florent de;
- Zidane, Monia;
- Guénel, Pascal;
- Deleuze, Jean-François;
- Boutron-Ruault, Marie-Christine;
- Severi, Gianluca;
- Liquet, Benoît;
- Truong, Thérèse
Publication type:
Article
Nitric oxide is required for lung alveolarization revealed by deficiency of argininosuccinate lyase.
Published in:
Human Molecular Genetics, 2024, v. 33, n. 1, p. 33, doi. 10.1093/hmg/ddad158
By:
- Jin, Zixue;
- Jiang, Ming-Ming;
- Lee, Brendan
Publication type:
Article
Systemic proteome phenotypes reveal defective metabolic flexibility in Mecp2 mutants.
Published in:
Human Molecular Genetics, 2024, v. 33, n. 1, p. 12, doi. 10.1093/hmg/ddad154
By:
- Zlatic, Stephanie A;
- Werner, Erica;
- Surapaneni, Veda;
- Lee, Chelsea E;
- Gokhale, Avanti;
- Singleton, Kaela;
- Duong, Duc;
- Crocker, Amanda;
- Gentile, Karen;
- Middleton, Frank;
- Dalloul, Joseph Martin;
- Liu, William Li-Yun;
- Patgiri, Anupam;
- Tarquinio, Daniel;
- Carpenter, Randall;
- Faundez, Victor
Publication type:
Article
MeCP2 ubiquitination and sumoylation, in search of a function.
Published in:
Human Molecular Genetics, 2024, v. 33, n. 1, p. 1, doi. 10.1093/hmg/ddad150
By:
- Kalani, Ladan;
- Kim, Bo-Hyun;
- Vincent, John B;
- Ausió, Juan
Publication type:
Article
Higher incidence of embryonic defects in mouse offspring conceived with assisted reproduction from fathers with sperm epimutations.
Published in:
Human Molecular Genetics, 2024, v. 33, n. 1, p. 48, doi. 10.1093/hmg/ddad160
By:
- Karahan, Gurbet;
- Martel, Josée;
- Rahimi, Sophia;
- Farag, Mena;
- Matias, Fernando;
- MacFarlane, Amanda J;
- Chan, Donovan;
- Trasler, Jacquetta
Publication type:
Article