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

Results: 8

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

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

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

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

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