Works matching IS 09646906 AND DT 2024 AND VI 33 AND IP 16

Results: 8

Correction to: Mutations in the non-catalytic polyproline motif destabilize TREX1 and amplify cGAS-STING signaling.
Published in:
Human Molecular Genetics, 2024, v. 33, n. 16, p. 1465, doi. 10.1093/hmg/ddae108
Publication type:
Article
An endogenous retrovirus regulates tumor-specific expression of the immune transcriptional regulator SP140.
Published in:
Human Molecular Genetics, 2024, v. 33, n. 16, p. 1454, doi. 10.1093/hmg/ddae084
By:
- Dziulko, Adam K;
- Allen, Holly;
- Chuong, Edward B
Publication type:
Article
Defects in diffusion barrier function of ciliary transition zone caused by ciliopathy variations of TMEM218.
Published in:
Human Molecular Genetics, 2024, v. 33, n. 16, p. 1442, doi. 10.1093/hmg/ddae083
By:
- Fujii, Taiju;
- Liang, Luxiaoxue;
- Nakayama, Kazuhisa;
- Katoh, Yohei
Publication type:
Article
Lymphatic endothelial cell-specific NRAS p.Q61R mutant embryos show abnormal lymphatic vessel morphogenesis.
Published in:
Human Molecular Genetics, 2024, v. 33, n. 16, p. 1420, doi. 10.1093/hmg/ddae080
By:
- Nozawa, Akifumi;
- Abe, Taiki;
- Niihori, Tetsuya;
- Ozeki, Michio;
- Aoki, Yoko;
- Ohnishi, Hidenori
Publication type:
Article
A combination of chlorzoxazone and folic acid improves recognition memory, anxiety and depression in SCA3-84Q mice.
Published in:
Human Molecular Genetics, 2024, v. 33, n. 16, p. 1406, doi. 10.1093/hmg/ddae079
By:
- Marinina, Ksenia S;
- Bezprozvanny, Ilya B;
- Egorova, Polina A
Publication type:
Article
Loss of FMRP affects ovarian development and behaviour through multiple pathways in a zebrafish model of fragile X syndrome.
Published in:
Human Molecular Genetics, 2024, v. 33, n. 16, p. 1391, doi. 10.1093/hmg/ddae077
By:
- Rani, Rita;
- Sri, N Sushma;
- Medishetti, Raghavender;
- Chatti, Kiranam;
- Sevilimedu, Aarti
Publication type:
Article
Whole genome sequencing based analysis of inflammation biomarkers in the Trans-Omics for Precision Medicine (TOPMed) consortium.
Published in:
Human Molecular Genetics, 2024, v. 33, n. 16, p. 1429, doi. 10.1093/hmg/ddae050
By:
- Jiang, Min-Zhi;
- Gaynor, Sheila M;
- Li, Xihao;
- Buren, Eric Van;
- Stilp, Adrienne;
- Buth, Erin;
- Wang, Fei Fei;
- Manansala, Regina;
- Gogarten, Stephanie M;
- Li, Zilin;
- Polfus, Linda M;
- Salimi, Shabnam;
- Bis, Joshua C;
- Pankratz, Nathan;
- Yanek, Lisa R;
- Durda, Peter;
- Tracy, Russell P;
- Rich, Stephen S;
- Rotter, Jerome I;
- Mitchell, Braxton D
Publication type:
Article
Demonstration of the pathogenicity of a common non-exomic mutation in ABCA4 using iPSC-derived retinal organoids and retrospective clinical data.
Published in:
Human Molecular Genetics, 2024, v. 33, n. 16, p. 1379, doi. 10.1093/hmg/ddad176
By:
- Burnight, Erin R;
- Fenner, Beau J;
- Han, Ian C;
- DeLuca, Adam P;
- Whitmore, S Scott;
- Bohrer, Laura R;
- Andorf, Jeaneen L;
- Sohn, Elliott H;
- Mullins, Robert F;
- Tucker, Budd A;
- Stone, Edwin M
Publication type:
Article