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Works matching IS 09646906 AND DT 2025 AND VI 34 AND IP 9

Results: 7

1

Expression of Concern: The ERK1/2 pathway modulates nuclear PTEN-mediated cell cycle arrest by cyclin D1 transcriptional regulation Open Access.

Published in:: Human Molecular Genetics, 2025, v. 34, n. 9, p. 835, doi. 10.1093/hmg/ddaf039
Publication type:: Article

2

A novel recurrent ARL3 variant c.209G > A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell models Open Access.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 9, p. 821, doi. 10.1093/hmg/ddaf029

By:

Corral-Serrano, Julio C;
Vaclavik, Veronika;
Sompele, Stijn Van de;
Kaminska, Karolina;
Jovanovic, Katarina;
Escher, Pascal;
Broeck, Filip Van den;
Cancellieri, Francesca;
Toulis, Vasileios;
Leroy, Bart P;
Zaeytijd, Julie de;
You, Zhixuan;
Ottaviani, Daniele;
Quinodoz, Mathieu;
Bordeanu, Gabriela;
Hardcastle, Alison J;
Coppieters, Frauke;
Tran, Viet H;
Cheetham, Michael E;
Rivolta, Carlo

Publication type:

Article

3

The impact of TRPV4 pathogenic mutations on barrier integrity.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 9, p. 806, doi. 10.1093/hmg/ddaf023

By:

Sampaio, Gabriela;
Ismaili, Taylor;
Torkamani, Ali;
Breckenridge, David G;
Katana, Ashley;
Goldstein, David B;
Sahdeo, Sunil

Publication type:

Article

4

5-aza-2-deoxycytidine improves skeletal muscle function in a mouse model for recessive RYR1-related congenital myopathy.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 9, p. 790, doi. 10.1093/hmg/ddaf021

By:

Ruiz, Alexis;
Noreen, Faiza;
Meier, Hervé;
Buczak, Katarzyna;
Zorzato, Francesco;
Treves, Susan

Publication type:

Article

5

Genetic analysis of elevated levels of creatinine and cystatin C biomarkers reveals novel genetic loci associated with kidney function Open Access.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 9, p. 751, doi. 10.1093/hmg/ddaf018

By:

D'Antonio, Matteo;
Arthur, Timothy D;
Rivera, Wilfredo G Gonzalez;
Wu, Ximei;
Nguyen, Jennifer P;
Gymrek, Melissa;
Woo-Yeong, Park;
Frazer, Kelly A

Publication type:

Article

6

HHIP protein interactions in lung cells provide insight into COPD pathogenesis.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 9, p. 777, doi. 10.1093/hmg/ddaf016

By:

Deritei, Dávid;
Inuzuka, Hiroyuki;
Castaldi, Peter J;
Yun, Jeong Hyun;
Xu, Zhonghui;
Anamika, Wardatul Jannat;
Asara, John M;
Guo, Feng;
Zhou, Xiaobo;
Glass, Kimberly;
Wei, Wenyi;
Silverman, Edwin K

Publication type:

Article

7

Characterization of a novel GRHL2 mutation reveals molecular mechanisms underlying autosomal dominant hearing loss (DFNA28): insights from structural and functional studies.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 9, p. 765, doi. 10.1093/hmg/ddaf013

By:

Oziębło, Dominika;
Bałdyga, Natalia;
Leja, Marcin L;
Jarmuła, Adam;
Wilanowski, Tomasz;
Skarżyński, Henryk;
Ołdak, Monika

Publication type:

Article