Works matching IS 09646906 AND DT 2025 AND VI 34 AND IP 2

Results: 9

Correction to: Pathomechanisms of Monoallelic variants in TTN causing skeletal muscle disease.
Published in:
Human Molecular Genetics, 2025, v. 34, n. 2, p. 205, doi. 10.1093/hmg/ddae181
Publication type:
Article
Brain multi-omic Mendelian randomisation to identify novel drug targets for gliomagenesis.
Published in:
Human Molecular Genetics, 2025, v. 34, n. 2, p. 178, doi. 10.1093/hmg/ddae168
By:
- Thornton, Zak A;
- Andrews, Lily J;
- Zhao, Huiling;
- Zheng, Jie;
- Paternoster, Lavinia;
- Robinson, Jamie W;
- Kurian, Kathreena M
Publication type:
Article
Correction to: Expanded CAG/CTG repeats resist gene silencing mediated by targeted epigenome editing.
Published in:
Human Molecular Genetics, 2025, v. 34, n. 2, p. 204, doi. 10.1093/hmg/ddae167
Publication type:
Article
De novo missense variants in the PP2A regulatory subunit PPP2R2B in a neurodevelopmental syndrome: potential links to mitochondrial dynamics and spinocerebellar ataxias.
Published in:
Human Molecular Genetics, 2025, v. 34, n. 2, p. 193, doi. 10.1093/hmg/ddae166
By:
- Sandal, Priyanka;
- Jong, Chian Ju;
- Merrill, Ronald A;
- Kollman, Grace J;
- Paden, Austin H;
- Bend, Eric G;
- Sullivan, Jennifer;
- Spillmann, Rebecca C;
- Shashi, Vandana;
- Silfhout, Anneke T Vulto-van;
- Pfundt, Rolph;
- Vries, Bert B A de;
- Li, Pan P;
- Bicknell, Louise S;
- Strack, Stefan
Publication type:
Article
Uplift of genetic diagnosis of rare respiratory disease using airway epithelium transcriptome analysis.
Published in:
Human Molecular Genetics, 2025, v. 34, n. 2, p. 148, doi. 10.1093/hmg/ddae164
By:
- Legebeke, Jelmer;
- Wheway, Gabrielle;
- Baker, Lee;
- Wai, Htoo A;
- Walker, Woolf T;
- Thomas, N Simon;
- Coles, Janice;
- Jackson, Claire L;
- Holloway, John W;
- Lucas, Jane S;
- Baralle, Diana
Publication type:
Article
ZBTB24 is a conserved multifaceted transcription factor at genes and centromeres that governs the DNA methylation state and expression of satellite repeats.
Published in:
Human Molecular Genetics, 2025, v. 34, n. 2, p. 161, doi. 10.1093/hmg/ddae163
By:
- Grillo, Giacomo;
- Boyarchuk, Ekaterina;
- Mihic, Seed;
- Ivkovic, Ivana;
- Bertrand, Mathilde;
- Jouneau, Alice;
- Dahlet, Thomas;
- Dumas, Michael;
- Weber, Michael;
- Velasco, Guillaume;
- Francastel, Claire
Publication type:
Article
Developing and validating a comprehensive polygenic risk score to enhance keratoconus risk prediction.
Published in:
Human Molecular Genetics, 2025, v. 34, n. 2, p. 140, doi. 10.1093/hmg/ddae157
By:
- He, Weixiong;
- Võsa, Urmo;
- Palumaa, Teele;
- Ong, Jue-Sheng;
- Torres, Santiago Diaz;
- Hewitt, Alex W;
- Mackey, David A;
- Gharahkhani, Puya;
- Esko, Tõnu;
- MacGregor, Stuart
Publication type:
Article
Ligand distances as key predictors of pathogenicity and function in NMDA receptors.
Published in:
Human Molecular Genetics, 2025, v. 34, n. 2, p. 128, doi. 10.1093/hmg/ddae156
By:
- Montanucci, Ludovica;
- Brünger, Tobias;
- Bhattarai, Nisha;
- Boßelmann, Christian M;
- Kim, Sukhan;
- Allen, James P;
- Zhang, Jing;
- Klöckner, Chiara;
- Krey, Ilona;
- Fariselli, Piero;
- May, Patrick;
- Lemke, Johannes R;
- Myers, Scott J;
- Yuan, Hongjie;
- Traynelis, Stephen F;
- Lal, Dennis
Publication type:
Article
The regulation of miRNAs using curcumin and other polyphenols during the prevention and treatment of Alzheimer's disease.
Published in:
Human Molecular Genetics, 2025, v. 34, n. 2, p. 117, doi. 10.1093/hmg/ddae154
By:
- Wang, XiYun;
- Zhang, Sale;
- Li, Ying;
- Zhang, Yu
Publication type:
Article