Works matching IS 09646906 AND DT 2022 AND VI 31 AND IP 10

Results: 14

Canine DUXC: implications for DUX4 retrotransposition and preclinical models of FSHD.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 10, p. 1694, doi. 10.1093/hmg/ddab352

By:

Wong, Chao-Jen;
Whiddon, Jennifer L;
Langford, Ashlee T;
Belleville, Andrea E;
Tapscott, Stephen J

Publication type:

Article

Interaction of huntingtin with PRMTs and its subsequent arginine methylation affects HTT solubility, phase transition behavior and neuronal toxicity.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 10, p. 1651, doi. 10.1093/hmg/ddab351

By:

Ratovitski, Tamara;
Jiang, Mali;
O'Meally, Robert N;
Rauniyar, Priyanka;
Chighladze, Ekaterine;
Faragó, Anikó;
Kamath, Siddhi V;
Jin, Jing;
Shevelkin, Alexey V;
Cole, Robert N;
Ross, Christopher A

Publication type:

Article

Dysregulated mitochondrial and cytosolic tRNA m1A methylation in Alzheimer's disease.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 10, p. 1673, doi. 10.1093/hmg/ddab357

By:

Shafik, Andrew M;
Zhou, Huiqing;
Lim, Junghwa;
Dickinson, Bryan;
Jin, Peng

Publication type:

Article

Impaired cooperation between IFT74/BBS22–IFT81 and IFT25–IFT27/BBS19 causes Bardet-Biedl syndrome.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 10, p. 1681, doi. 10.1093/hmg/ddab354

By:

Zhou, Zhuang;
Qiu, Hantian;
Castro-Araya, Roiner-Francisco;
Takei, Ryota;
Nakayama, Kazuhisa;
Katoh, Yohei

Publication type:

Article

WNT11, a new gene associated with early onset osteoporosis, is required for osteoblastogenesis.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 10, p. 1622, doi. 10.1093/hmg/ddab349

By:

Silva, Caroline Caetano da;
Edouard, Thomas;
Fradin, Melanie;
Aubert-Mucca, Marion;
Ricquebourg, Manon;
Raman, Ratish;
Salles, Jean Pierre;
Charon, Valérie;
Guggenbuhl, Pascal;
Muller, Marc;
Cohen-Solal, Martine;
Collet, Corinne

Publication type:

Article

Interpreting ciliopathy-associated missense variants of uncertain significance (VUS) in Caenorhabditis elegans.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 10, p. 1574, doi. 10.1093/hmg/ddab344

By:

Lange, Karen I;
Best, Sunayna;
Tsiropoulou, Sofia;
Berry, Ian;
Johnson, Colin A;
Blacque, Oliver E

Publication type:

Article

Antisense oligonucleotides targeting the SMN2 promoter region enhance SMN2 expression in spinal muscular atrophy cell lines and mouse model.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 10, p. 1635, doi. 10.1093/hmg/ddab350

By:

Wang, Jia;
Bai, Jinli;
OuYang, Shijia;
Wang, Hong;
Jin, Yuwei;
Peng, Xiaoyin;
Ge, Xiushan;
Jiao, Hui;
Zou, Jizhen;
He, Cai;
Xiao, Ping;
Song, Fang;
Qu, Yujin

Publication type:

Article

Metformin induces lactate accumulation and accelerates renal cyst progression in Pkd1-deficient mice.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 10, p. 1560, doi. 10.1093/hmg/ddab340

By:

Chang, Ming-Yang;
Tsai, Chung-Ying;
Chou, Li-Fang;
Hsu, Shen-Hsing;
Yang, Huang-Yu;
Hung, Cheng-Chieh;
Tian, Ya-Chung;
Ong, Albert C M;
Yang, Chih-Wei

Publication type:

Article

Disease-associated c-MYC downregulation in human disorders of transcriptional regulation.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 10, p. 1599, doi. 10.1093/hmg/ddab348

By:

Pallotta, Maria M;
Nardo, Maddalena Di;
Sarogni, Patrizia;
Krantz, Ian D;
Musio, Antonio

Publication type:

Article

Mitochondrial genome-wide analysis of nuclear DNA methylation quantitative trait loci.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 10, p. 1720, doi. 10.1093/hmg/ddab339

By:

Laaksonen, Jaakko;
Mishra, Pashupati P;
Seppälä, Ilkka;
Raitoharju, Emma;
Marttila, Saara;
Mononen, Nina;
Lyytikäinen, Leo-Pekka;
Kleber, Marcus E;
Delgado, Graciela E;
Lepistö, Maija;
Almusa, Henrikki;
Ellonen, Pekka;
Lorkowski, Stefan;
März, Winfried;
Hutri-Kähönen, Nina;
Raitakari, Olli;
Kähönen, Mika;
Salonen, Jukka T;
Lehtimäki, Terho

Publication type:

Article

Novel role of prostate cancer risk variant rs7247241 on PPP1R14A isoform transition through allelic TF binding and CpG methylation.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 10, p. 1610, doi. 10.1093/hmg/ddab347

By:

Tian, Yijun;
Soupir, Alex;
Liu, Qian;
Wu, Lang;
Huang, Chiang-Ching;
Park, Jong Y;
Wang, Liang

Publication type:

Article

Investigation of the causal relationships between human IgG N-glycosylation and 12 common diseases associated with changes in the IgG N-glycome.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 10, p. 1545, doi. 10.1093/hmg/ddab335

By:

Zaytseva, Olga O;
Sharapov, Sodbo Zh;
Perola, Marcus;
Esko, Tonu;
Landini, Arianna;
Hayward, Caroline;
Wilson, James F;
Lauc, Gordan;
Aulchenko, Yurii S;
Klarić, Lucija;
Tsepilov, Yakov A

Publication type:

Article

Development and validation of prognostic and diagnostic model for pancreatic ductal adenocarcinoma based on scRNA-seq and bulk-seq datasets.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 10, p. 1705, doi. 10.1093/hmg/ddab343

By:

Chen, Kai;
Liu, Xinxin;
Liu, Weikang;
Wang, Feng;
Tian, Xiaodong;
Yang, Yinmo

Publication type:

Article

Skin depletion of Kif3a resembles the pediatric atopic dermatitis transcriptome profile.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 10, p. 1588, doi. 10.1093/hmg/ddab342

By:

Stevens, Mariana L;
Mersha, Tesfaye B;
Zhang, Zhonghua;
Kothari, Arjun;
Hershey, Gurjit K Khurana

Publication type:

Article