Works matching IS 09646906 AND DT 2025 AND VI 34 AND IP 13

Results: 10

Editor's Note to: Cowden syndrome-associated germline SDHD variants alter PTEN nuclear translocation through SRC-induced PTEN oxidation Open Access.

Published in:: Human Molecular Genetics, 2025, v. 34, n. 13, p. 1171, doi. 10.1093/hmg/ddaf086
Publication type:: Article

Editor's Note: Naturally occurring germline and tumor-associated mutations within the ATP-binding motifs of PTEN lead to oxidative damage of DNA associated with decreased nuclear p53 Open Access.

Published in:: Human Molecular Genetics, 2025, v. 34, n. 13, p. 1172, doi. 10.1093/hmg/ddaf085
Publication type:: Article

Correction to: Ubiquitin specific protease-13 independently regulates parkin ubiquitination and alpha-synuclein clearance in alpha-synucleinopathies Free.

Published in:: Human Molecular Genetics, 2025, v. 34, n. 13, p. 1168, doi. 10.1093/hmg/ddaf078
Publication type:: Article

UNRAVELING CLN7 disease: the distinct roles of two close MFSD8/CLN7 splice variants in phenotypic expression.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 13, p. 1157, doi. 10.1093/hmg/ddaf067

By:

Venier, Ana Clara;
Savy, Sofía;
Carro, Gerardo;
Guelbert, Guillermo;
Grondona, Ezequiel;
Guelbert, Norberto;
Nicola, Juan Pablo;
Pesaola, Favio;
Paul, Ana Lucía De

Publication type:

Article

Single-cell transcriptome unveils mesenchymal cell diversity in endometriosis.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 13, p. 1146, doi. 10.1093/hmg/ddaf065

By:

Chen, Xia;
Zhang, Shengkun;
Qi, Yujuan;
Wu, Tiantian;
Huang, Qiuru;
Bao, Xueyun;
Gu, Juan;
Sun, Qingqing;
Shao, Yueyue;
Jiang, Nan;
Chen, Ning;
Li, Zhenbei;
Zheng, Sen;
Cao, Xiangnan;
Li, Jiaxin;
Zheng, Bo;
Shi, Zhonghua;
Cao, Yijuan;
Sun, Xiaoli;
Yu, Jun

Publication type:

Article

Loss of Nup160 dysregulates Cdc42 in the podocytes of podocyte-specific Nup160 knockout mice.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 13, p. 1134, doi. 10.1093/hmg/ddaf064

By:

Liu, Deying;
Li, Jiaxin;
Xu, Chan;
Li, Yuanyuan;
Chen, Xiaohan;
Zhao, Feng;
Tong, Huajuan;
Yang, Yonghui;
Qiu, Xiaojian;
Yu, Zihua

Publication type:

Article

Transcriptional reprogramming in SMA mouse hearts reveals signatures of early heart failure and dysregulated calcium signaling.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 13, p. 1123, doi. 10.1093/hmg/ddaf060

By:

Mangione, Cecelia C;
Frank, Andrew;
Dalgard, Clifton L;
Burnett, Barrington G;
Flagg, Thomas P

Publication type:

Article

Defective IFT57 underlies a novel cause of Bardet-Biedl syndrome Open Access.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 13, p. 1108, doi. 10.1093/hmg/ddaf058

By:

Nitoiu, Alexandra;
Zhang, Qihong;
Tavares, Erika;
Li, Janice Min;
Ahmed, Kashif;
Green-Sanderson, Kit;
Rashid, Mahnoor;
Morcos, Shahir M;
Maynes, Jayson T;
Campos, Eric I;
Sheffield, Val C;
Vincent, Ajoy;
Héon, Elise

Publication type:

Article

Fetal growth disorders detection during first trimester gestation through comprehensive maternal circulating DNA profiling.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 13, p. 1089, doi. 10.1093/hmg/ddaf055

By:

Cortese, Rene;
Cataldo, Kylie;
Hummel, Justin;
Smith, Gracie;
Ortega, Madison;
Richey, Madison;
Winn, Hung;
Gozal, David;
Goodman, Jean Ricci

Publication type:

Article

Kinetin mediated mutant huntingtin phosphorylation restores multiple dysregulated pathways in a cell line model of Huntington's disease.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 13, p. 1097, doi. 10.1093/hmg/ddaf052

By:

Dabhi, Rajubhai;
Mehta, Ragi;
Kakadiya, Dhruvi;
Vijayvargia, Ravi

Publication type:

Article