Works matching IS 09646906 AND DT 2025 AND VI 34 AND IP 11

Results: 8

Functional analysis of pathogenic variants in LAMB1-related leukoencephalopathy reveals genotype–phenotype correlations and suggests its role in glial cells Purchased.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 11, p. 990, doi. 10.1093/hmg/ddaf050

By:

Yasuda, Rei;
Hashimoto, Hirokazu;
Oka, Mikiko;
Mok, Jung-Wan;
Waqar, Marium;
Dauwalder, Brigitte;
Kanca, Oguz;
Mizuno, Toshiki;
Yamamoto, Shinya

Publication type:

Article

Escape from X-chromosome inactivation at KDM5C is driven by promoter-proximal DNA elements and enhanced by domain context Open Access.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 11, p. 978, doi. 10.1093/hmg/ddaf049

By:

Peeters, Samantha;
Baldry, Sarah;
Korecki, Andrea J;
Srinivasan, Aditi;
Wasserman, Wyeth W;
Simpson, Elizabeth M;
Brown, Carolyn J

Publication type:

Article

Deoxynucleoside supplementation ameliorates the disease associated phenotypes in a zebrafish model of RRM2B mtDNA depletion syndrome Open Access.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 11, p. 967, doi. 10.1093/hmg/ddaf047

By:

Munro, Benjamin;
Hines, Declan;
Mueller, Juliane S;
Horvath, Rita

Publication type:

Article

SCA10 expansions occur in the Brazilian general population, but rearrangement happens between expansion and rs41524547 Purchased.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 11, p. 917, doi. 10.1093/hmg/ddaf046

By:

Mergener, Rafaella;
Furtado, Gabriel Vasata;
Hasan, Ali;
Saraiva-Pereira, Maria Luiza;
Jardim, Laura Bannach

Publication type:

Article

Modeling bone marrow microenvironment and hematopoietic dysregulation in Gaucher disease through VavCre mediated Gba deletion Open Access.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 11, p. 952, doi. 10.1093/hmg/ddaf045

By:

Belinsky, Glenn;
Ruan, Jiapeng;
Fattahi, Nima;
Mehta, Sameet;
Boddupalli, Chandra Sekhar;
Mistry, Pramod K;
Nair, Shiny

Publication type:

Article

Calibrating a functional assay for variant classification in RYR1-related malignant hyperthermia susceptibility Purchased.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 11, p. 945, doi. 10.1093/hmg/ddaf038

By:

Ying, Evan Z;
Douglass, Amber;
Hawari, Marwan A;
Groom, Linda;
Stowell, Kathryn;
Dirksen, Robert T;
Johnston, Jennifer J;
Biesecker, Leslie G

Publication type:

Article

Knockdown of TSP-4 alleviates MI/RI-induced myocardial injury and improves brain inflammation by enhancing blood–brain barrier stability Purchased.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 11, p. 934, doi. 10.1093/hmg/ddaf037

By:

Feng, Jiahao;
Lu, Yanfeng;
Wu, Haoyu;
Ma, Wangge;
Zhang, Yong;
Guo, Ning

Publication type:

Article

New insights into tumor microenvironment and HPV integrations in cervical cancer pathogenesis revealed by single-cell transcriptome data Purchased.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 11, p. 920, doi. 10.1093/hmg/ddaf027

By:

Zeng, Xi;
Peng, Fang;
Wang, Ziying;
Teng, Qiuli;
Sha, Ying;
Leung, Ross Ka-Kit;
Christopher, L A I Koon Chi;
Li, Guoliang;
Huang, Xiaoyuan;
Lin, Shitong

Publication type:

Article