Works matching IS 09646906 AND DT 2025 AND VI 34 AND IP 10

Results: 10

Expression of Concern: 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. 10, p. 915, doi. 10.1093/hmg/ddaf042
Publication type:: Article

Expression of Concern: 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. 10, p. 914, doi. 10.1093/hmg/ddaf041
Publication type:: Article

A de novo deletion underlying spinal muscular atrophy: implications for carrier testing and genetic counseling Open Access.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 10, p. 894, doi. 10.1093/hmg/ddaf035

By:

Zwartkruis, Maria M;
Pagter, Mirjam S de;
Gommers, Demi;
Koopmans, Marije;
Ottenheim, Cecile P E;
Kortooms, Joris V;
Albring, Mirjan;
Elferink, Martin G;
Wadman, Renske I;
Asselman, Fay-Lynn;
Cuppen, Inge;
Pol, W Ludo van der;
Nelen, Marcel R;
Haaften, Gijs W van;
Groen, Ewout J N

Publication type:

Article

Nucleoredoxin regulates WNT signaling during pituitary stem cell differentiation Open Access.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 10, p. 870, doi. 10.1093/hmg/ddaf032

By:

Brinkmeier, Michelle L;
Cheung, Leonard Y M;
O'Connell, Sean P;
Gutierrez, Diana K;
Rhoads, Eve C;
Camper, Sally A;
Davis, Shannon W

Publication type:

Article

The role of CSNK1A1 and its de novo mutations in infantile spasms syndrome Open Access.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 10, p. 905, doi. 10.1093/hmg/ddaf030

By:

Ren, Decheng;
Yang, Zhenxi;
Hu, Juan;
Ji, Lei;
Bi, Yan;
Yuan, Fan;
Yan, Yang;
Peng, Jing;
Li, Keyi;
Yang, Ke;
Liu, Liangjie;
Mao, Xiao;
Luo, Yingying;
Wang, Yanlin;
He, Guang;
Li, Kai;
Peng, Ying

Publication type:

Article

New selective androgen receptor modulator TEI-SARM2 improves muscle function in a Duchenne muscular dystrophy rat model.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 10, p. 852, doi. 10.1093/hmg/ddaf028

By:

Nakamura, Katsuyuki;
Kanou, Masanobu;
Fujii, Wataru;
Kouzaki, Karina;
Jimbo, Toshie;
Yamanouchi, Keitaro;
Nakazato, Koichi;
Ueda, Hiroshi;
Hirata, Jun;
Yamana, Kei

Publication type:

Article

LRP8 inhibits bladder cancer cell ferroptosis by activating the Wnt/β-catenin-SCD1 positive feedback loop.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 10, p. 843, doi. 10.1093/hmg/ddaf024

By:

Zhao, Yong;
Shi, Guohong;
Huang, Xiang;
Zhang, Zhongyuan;
Liao, Kaijun;
Xiong, Hao;
Feng, Zhiqiang;
Mao, Shihui;
Zhang, Xu

Publication type:

Article

Functional characterization of OXTR-associated enhancers Open Access.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 10, p. 837, doi. 10.1093/hmg/ddaf022

By:

Cintrón, Dianne Laboy;
Sheng, Rory R;
Ahituv, Nadav

Publication type:

Article

Aggregates associated with amyotrophic lateral sclerosis sequester the actin-binding protein profilin 2.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 10, p. 882, doi. 10.1093/hmg/ddaf020

By:

Kubinski, Sabrina;
Claus, Luisa;
Schüning, Tobias;
Zeug, Andre;
Kalmbach, Norman;
Staege, Selma;
Gschwendtberger, Thomas;
Petri, Susanne;
Wegner, Florian;
Claus, Peter;
Hensel, Niko

Publication type:

Article

Mate-pair sequencing assisted prenatal counseling for a rare complex chromosomal rearrangement carrier Open Access.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 10, p. 864, doi. 10.1093/hmg/ddaf012

By:

Wan, Lu;
Baitao, Zeng;
Yuxin, Tan;
Zhongfa, Chen;
Jihui, Zhou;
Ning, Huang;
Bicheng, Yang;
Shuhui, Huang;
Yanqiu, Liu;
Huizhen, Yuan

Publication type:

Article