Works matching IS 09646906 AND DT 2025 AND VI 34 AND IP 12

Results: 10

Correction to: A combinatorial approach increases SMN level in SMA model mice Free.

Published in:: Human Molecular Genetics, 2025, v. 34, n. 12, p. 1086, doi. 10.1093/hmg/ddaf073
Publication type:: Article

Correction to: Testing the PEST hypothesis using relevant Rett mutations in MeCP2 E1 and E2 isoforms Open Access.

Published in:: Human Molecular Genetics, 2025, v. 34, n. 12, p. 1088, doi. 10.1093/hmg/ddaf072
Publication type:: Article

Genetic characteristics associated with isolated Microtia revealed through whole exome sequencing of 201 pedigrees.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 12, p. 1057, doi. 10.1093/hmg/ddaf063

By:

Wu, Siyi;
Chen, Xin;
Chen, Ying;
Li, Chenlong;
Yang, Run;
Zhang, Tianyu;
Ma, Jing

Publication type:

Article

The copper ionophore disulfiram improves mitochondrial function in various yeast and human cellular models of mitochondrial diseases.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 12, p. 1072, doi. 10.1093/hmg/ddaf061

By:

Almyre, Claire;
Bounaix, Nolwenn;
Godard, François;
Baris, Olivier R;
Cayer, Anne-Louise;
Sardin, Elodie;
Bouhier, Marine;
Hoarau, Anaïs;
Dard, Laetitia;
Richard, Jérémy;
Bergeron, Vanessa;
Renaud, Aurélie;
Loaëc, Nadege;
Gueguen, Naïg;
Desquiret-Dumas, Valérie;
Lelievre, Bénédicte;
Inisan, Aurore;
Panozzo, Cristina;
Dujardin, Genevève;
Blondel, Marc

Publication type:

Article

Generation of a compound heterozygous ABCA4 rat model with pathological features of STGD1 Open Access.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 12, p. 1040, doi. 10.1093/hmg/ddaf057

By:

Morival, Clément;
Croyal, Mikaël;
Remy, Séverine;
Mortier, Elodie;
Libeau, Lyse;
Veziers, Joëlle;
Provost, Nathalie;
Demilly, Joanna;
Mendes-Madeira, Alexandra;
Isiegas, Carolina;
Tesson, Laurent;
Anegon, Ignacio;
Adjali, Oumeya;
Cronin, Therese

Publication type:

Article

ap4b1<sup>−/−</sup> zebrafish demonstrate morphological and motor abnormalities.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 12, p. 1034, doi. 10.1093/hmg/ddaf056

By:

Rosengarten, Helena;
D'Amore, Angelica;
Kim, Hyo-Min;
Ebrahimi-Fakhari, Darius

Publication type:

Article

Linking DNA methylation in brain regions to Alzheimer's disease risk: a Mendelian randomization study.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 12, p. 1026, doi. 10.1093/hmg/ddaf053

By:

Zhong, Hua;
Zhu, Jingjing;
Liu, Shuai;
Zhou, Dan;
Long, Quan;
Wu, Chong;
Zhao, Bingxin;
Cheng, Chao;
Yang, Yaohua;
Wu, Qing;
Wu, Yong;
Li, Changwei;
Wang, Zhaoming;
Wu, Jianyong;
Guo, Xingyi;
Zhi, Degui;
Deng, Youping;
Wu, Lang

Publication type:

Article

The nuclear export signal mediates mutant atrophin-1-induced neuropathology in a mouse model of DRPLA.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 12, p. 1017, doi. 10.1093/hmg/ddaf048

By:

Liang, Yideng;
Ning, Bo;
Wang, Xiaobo;
Fuehrer, Hannah;
Nakamura, Masayuki;
Nucifora, Frederick C;
Margolis, Russell;
Ross, Christopher A;
Smith, Wanli W

Publication type:

Article

Localization of human UBE3A isoform 3 is highly sensitive to amino acid substitutions at p.Met21 position Open Access.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 12, p. 1009, doi. 10.1093/hmg/ddaf044

By:

Esbroeck, Annelot C M van;
Verhagen, Rob F M;
Biagioni, Martina;
Fossati, Matteo;
Distel, Ben;
Elgersma, Ype

Publication type:

Article

CRISPR-Cas9-driven antigen conversion of clinically relevant blood group systems Open Access.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 12, p. 1001, doi. 10.1093/hmg/ddaf040

By:

Boccacci, Yelena;
Dumont, Nellie;
Doyon, Yannick;
Laganière, Josée

Publication type:

Article