Works matching IS 09646906 AND DT 2023 AND VI 32 AND IP 1

Results: 14

Correction to: Nilotinib reverses loss of dopamine neurons and improves motor behavior via autophagic degradation of α-synuclein in Parkinson's disease models.

Published in:: Human Molecular Genetics, 2023, v. 32, n. 1, p. 172, doi. 10.1093/hmg/ddac274
Publication type:: Article

The Parkinson's disease variant rs356182 regulates neuronal differentiation independently from alpha-synuclein.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 1, p. 1, doi. 10.1093/hmg/ddac161

By:

Prahl, Jordan D;
Pierce, Steven E;
Schans, Edwin J C van der;
Coetzee, Gerhard A;
Tyson, Trevor

Publication type:

Article

TFIIB-related factor 1 is a nucleolar protein that promotes RNA polymerase I-directed transcription and tumour cell growth.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 1, p. 104, doi. 10.1093/hmg/ddac152

By:

Wang, Juan;
Chen, Qiyue;
Wang, Xin;
Zhao, Shasha;
Deng, Huan;
Guo, Baoqiang;
Zhang, Cheng;
Song, Xiaoye;
Deng, Wensheng;
Zhang, Tongcun;
Ni, Hongwei

Publication type:

Article

Large registry-based analysis of genetic predisposition to tuberculosis identifies genetic risk factors at HLA.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 1, p. 161, doi. 10.1093/hmg/ddac212

By:

Tervi, Anniina;
Junna, Nella;
Broberg, Martin;
Jones, Samuel E;
FinnGen;
Strausz, Satu;
Kreivi, Hanna-Riikka;
Heckman, Caroline A;
Ollila, Hanna M

Publication type:

Article

An enhancer variant associated with breast cancer susceptibility in Black women regulates TNFSF10 expression and antitumor immunity in triple-negative breast cancer.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 1, p. 139, doi. 10.1093/hmg/ddac168

By:

Han, Yoo Jane;
Zhang, Jing;
Hardeman, Ashley;
Liu, Margaret;
Karginova, Olga;
Romero, Roger;
Khramtsova, Galina F;
Zheng, Yonglan;
Huo, Dezheng;
Olopade, Olufunmilayo I

Publication type:

Article

Huntingtin turnover: modulation of huntingtin degradation by cAMP-dependent protein kinase A (PKA) phosphorylation of C-HEAT domain Ser2550.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 1, p. 30, doi. 10.1093/hmg/ddac165

By:

Lee, Yejin;
Kim, Hyeongju;
Barker, Douglas;
Vijayvargia, Ravi;
Atwal, Ranjit Singh;
Specht, Harrison;
Keshishian, Hasmik;
Carr, Steven A;
Lee, Ramee;
Kwak, Seung;
Hyun, Kyung-gi;
Loupe, Jacob;
MacDonald, Marcy E;
Song, Ji-Joon;
Seong, Ihn Sik

Publication type:

Article

The long Filamin-A isoform is required for intestinal development and motility: implications for chronic intestinal pseudo-obstruction.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 1, p. 151, doi. 10.1093/hmg/ddac199

By:

Zada, Almira;
Zhao, Yuying;
Halim, Danny;
Windster, Jonathan;
Linde, Herma C van der;
Glodener, Jackleen;
Overkleeft, Sander;
Graaf, Bianca M de;
Verdijk, Robert M;
Brooks, Alice S;
Shepherd, Iain;
Gao, Ya;
Burns, Alan J;
Hofstra, Robert M W;
Alves, Maria M

Publication type:

Article

Tumor suppressor genes are reactivated by miR-26A1 via enhancer reprogramming in NSCLC.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 1, p. 79, doi. 10.1093/hmg/ddac185

By:

Li, Hongling;
Da, Dezhuan;
Yu, Wenqiang;
Chen, Lu;
Yang, Shuai;
Zhang, Baolong;
Wang, Yongying;
Li, Linyu;
Dang, Chunyan

Publication type:

Article

SOX9 and SRY binding sites on mouse mXYSRa/Enh13 enhancer redundantly regulate Sox9 expression to varying degrees.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 1, p. 55, doi. 10.1093/hmg/ddac184

By:

Ogawa, Yuya;
Terao, Miho;
Tsuji-Hosokawa, Atsumi;
Tsuchiya, Iku;
Hasegawa, Midori;
Takada, Shuji

Publication type:

Article

De novo variants cause complex symptoms in HSP-ATL1 (SPG3A) and uncover genotype–phenotype correlations.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 1, p. 93, doi. 10.1093/hmg/ddac182

By:

Alecu, Julian E;
Saffari, Afshin;
Jordan, Catherine;
Srivastava, Siddharth;
Blackstone, Craig;
Ebrahimi-Fakhari, Darius

Publication type:

Article

AAV-mediated gene-replacement therapy restores viability of BCD patient iPSC derived RPE cells and vision of Cyp4v3 knockout mice.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 1, p. 122, doi. 10.1093/hmg/ddac181

By:

Jia, Ruixuan;
Meng, Xiang;
Chen, Shaohong;
Zhang, Fan;
Du, Juan;
Liu, Xiaozhen;
Yang, Liping

Publication type:

Article

Repeat expansions nested within tandem CNVs: a unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variation.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 1, p. 46, doi. 10.1093/hmg/ddac173

By:

Fazal, Sarah;
Danzi, Matt C;
Kuilenburg, André B P van;
Reich, Selina;
Traschütz, Andreas;
Bender, Benjamin;
Leen, René;
Toro, Camilo;
Usdin, Karen;
Hayward, Bruce;
Adams, David R;
Karnebeek, Clara D M van;
Ferreira, Carlos R;
D'Sousa, Precilla;
Network, Undiagnosed Diseases;
Tekin, Mustafa;
Züchner, Stephan;
Synofzik, Matthis

Publication type:

Article

Opposing effects of genetic variation in MTCH2 for obesity versus heart failure.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 1, p. 15, doi. 10.1093/hmg/ddac176

By:

Fischer, Julie A;
Monroe, Tanner O;
Pesce, Lorenzo L;
Sawicki, Konrad T;
Quattrocelli, Mattia;
Bauer, Rosemary;
Kearns, Samuel D;
Wolf, Matthew J;
Puckelwartz, Megan J;
McNally, Elizabeth M

Publication type:

Article

Disclosing complex mutational dynamics at a Y chromosome palindrome evolving through intra- and inter-chromosomal gene conversion.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 1, p. 65, doi. 10.1093/hmg/ddac144

By:

Bonito, Maria;
Ravasini, Francesco;
Novelletto, Andrea;
D'Atanasio, Eugenia;
Cruciani, Fulvio;
Trombetta, Beniamino

Publication type:

Article