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