Works matching IS 09646906 AND DT 2023 AND VI 32 AND IP 8

Results: 14

Correction to: Reduced dynamin-related protein 1 protects against phosphorylated Tau-induced mitochondrial dysfunction and synaptic damage in Alzheimer's disease.

Published in:: Human Molecular Genetics, 2023, v. 32, n. 8, p. 1410, doi. 10.1093/hmg/ddac305
Publication type:: Article

A novel frameshift variant of LMX1A that leads to autosomal dominant non-syndromic sensorineural hearing loss: functional characterization of the C-terminal domain in LMX1A.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 8, p. 1348, doi. 10.1093/hmg/ddac301

By:

Xiao, Min;
Zheng, Yan;
Huang, Kuo-Hsiang;
Yu, Shanhe;
Zhang, Wenbi;
Xi, Yanping;
Dou, Yan;
Sun, Xiaoxi;
Lei, Caixia;
Yu, Huiqian

Publication type:

Article

Upregulation of non-canonical and canonical inflammasome genes associates with pathological features in Krabbe disease and related disorders.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 8, p. 1361, doi. 10.1093/hmg/ddac299

By:

Cachón-González, María B;
Zhao, Chao;
Franklin, Robin J;
Cox, Timothy M

Publication type:

Article

Human TrkA<sup>R649W</sup> mutation impairs nociception, sweating and cognitive abilities: a mouse model of HSAN IV.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 8, p. 1380, doi. 10.1093/hmg/ddac295

By:

Pacifico, Paola;
Testa, Giovanna;
Amodeo, Rosy;
Mainardi, Marco;
Tiberi, Alexia;
Convertino, Domenica;
Arevalo, Juan Carlos;
Marchetti, Laura;
Costa, Mario;
Cattaneo, Antonino;
Capsoni, Simona

Publication type:

Article

Artesunate ameliorates osteoarthritis cartilage damage by updating MTA1 expression and promoting the transcriptional activation of LXA4 to suppress the JAK2/STAT3 signaling pathway.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 8, p. 1324, doi. 10.1093/hmg/ddac293

By:

Zhao, Chengjin;
Zhao, Li;
Zhou, Yuhu;
Feng, Yangyang;
Li, Nannan;
Wang, Kunzheng

Publication type:

Article

Molecular basis of diseases induced by the mitochondrial DNA mutation m.9032T>C.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 8, p. 1313, doi. 10.1093/hmg/ddac292

By:

Baranowska, Emilia;
Niedzwiecka, Katarzyna;
Panja, Chiranjit;
Charles, Camille;
Dautant, Alain;
Rago, Jean-Paul di;
Tribouillard-Tanvier, Déborah;
Kucharczyk, Roza

Publication type:

Article

Antisense oligonucleotide induced pseudoexon skipping and restoration of functional protein for Fukuyama muscular dystrophy caused by a deep-intronic variant.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 8, p. 1301, doi. 10.1093/hmg/ddac286

By:

Enkhjargal, Sarantuya;
Sugahara, Kana;
Khaledian, Behnoush;
Nagasaka, Miwako;
Inagaki, Hidehito;
Kurahashi, Hiroki;
Koshimizu, Hisatsugu;
Toda, Tatsushi;
Taniguchi-Ikeda, Mariko

Publication type:

Article

Derivation of a minimal functional XIST by combining human and mouse interaction domains.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 8, p. 1289, doi. 10.1093/hmg/ddac285

By:

Navarro-Cobos, Maria Jose;
Morales-Guzman, Suria Itzel;
Baldry, Sarah E L;
Brown, Carolyn J

Publication type:

Article

A functional variant of CD40 modulates clearance of hepatitis B virus in hepatocytes via regulation of the ANXA2/CD40/BST2 axis.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 8, p. 1334, doi. 10.1093/hmg/ddac284

By:

Chen, Jiaxuan;
Chen, Haitao;
Mai, Haoming;
Lou, Shuang;
Luo, Mengqi;
Xie, Haisheng;
Zhou, Bin;
Hou, Jinlin;
Jiang, De-Ke

Publication type:

Article

Clinically relevant mouse models of Charcot–Marie–Tooth type 2S.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 8, p. 1276, doi. 10.1093/hmg/ddac283

By:

Martin, Paige B;
Holbrook, Sarah E;
Hicks, Amy N;
Hines, Timothy J;
Bogdanik, Laurent P;
Burgess, Robert W;
Cox, Gregory A

Publication type:

Article

Functional analysis of germline RAD51C missense variants highlight the role of RAD51C in replication fork protection.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 8, p. 1401, doi. 10.1093/hmg/ddac281

By:

Kolinjivadi, Arun Mouli;
Chong, Siao Ting;
Choudhary, Ramveer;
Sankar, Haresh;
Chew, Ee Ling;
Yeo, Claresta;
Chan, Sock Hoai;
Ngeow, Joanne

Publication type:

Article

Identifying causal serum protein–cardiometabolic trait relationships using whole genome sequencing.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 8, p. 1266, doi. 10.1093/hmg/ddac275

By:

Png, Grace;
Gerlini, Raffaele;
Hatzikotoulas, Konstantinos;
Barysenka, Andrei;
Rayner, N William;
Klarić, Lucija;
Rathkolb, Birgit;
Aguilar-Pimentel, Juan A;
Rozman, Jan;
Fuchs, Helmut;
Gailus-Durner, Valerie;
Tsafantakis, Emmanouil;
Karaleftheri, Maria;
Dedoussis, George;
Pietrzik, Claus;
Wilson, James F;
Angelis, Martin Hrabe de;
Becker-Pauly, Christoph;
Gilly, Arthur;
Zeggini, Eleftheria

Publication type:

Article

Reversing lysosome-ribosome circuit dysregulation mitigates C9FTD/ALS neurodegeneration and behaviors.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 8, p. 1252, doi. 10.1093/hmg/ddac271

By:

Ma, Li;
Liang, Chen;
Wang, Jing;
Chang, Qing;
Wang, Yuan;
Zhang, Wei;
Du, Yuanning;
Sadan, Jotham;
Chen, Jian-Fu

Publication type:

Article

MATS: a novel multi-ancestry transcriptome-wide association study to account for heterogeneity in the effects of cis-regulated gene expression on complex traits.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 8, p. 1237, doi. 10.1093/hmg/ddac247

By:

Knutson, Katherine A;
Pan, Wei

Publication type:

Article