Works matching IS 09646906 AND DT 2022 AND VI 31 AND IP 9

Results: 14

novel CARM1–HuR axis involved in muscle differentiation and plasticity misregulated in spinal muscular atrophy.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 9, p. 1453, doi. 10.1093/hmg/ddab333

By:

Ravel-Chapuis, Aymeric;
Haghandish, Amir;
Daneshvar, Nasibeh;
Jasmin, Bernard J;
Côté, Jocelyn

Publication type:

Article

Clinical characterization of a novel RAB39B nonstop mutation in a family with ASD and severe ID causing RAB39B downregulation and study of a Rab39b knock down mouse model.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 9, p. 1389, doi. 10.1093/hmg/ddab320

By:

Mignogna, Maria Lidia;
Ficarella, Romina;
Gelmini, Susanna;
Marzulli, Lucia;
Ponzi, Emanuela;
Gabellone, Alessandra;
Peschechera, Antonia;
Alessio, Massino;
Margari, Lucia;
Gentile, Mattia;
D'Adamo, Patrizia

Publication type:

Article

Corrigendum to: A genome-wide association study implicates multiple mechanisms influencing raised urinary albumin–creatinine ratio.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 9, p. 1544, doi. 10.1093/hmg/ddac022

By:

Casanova, Francesco;
Tyrrell, Jessica;
Beaumont, Robin N;
Ji, Yingjie;
Jones, Samuel E;
Hattersley, Andrew T;
Weedon, Michael N;
Murray, Anna;
Shore, Angela C;
Frayling, Timothy M;
Wood, Andrew R

Publication type:

Article

Dorsal telencephalon-specific Nprl2- and Nprl3-knockout mice: novel mouse models for GATORopathy.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 9, p. 1519, doi. 10.1093/hmg/ddab337

By:

Ishida, Saeko;
Zhao, Di;
Sawada, Yuta;
Hiraoka, Yuichi;
Mashimo, Tomoji;
Tanaka, Kohichi

Publication type:

Article

Genetic architecture of orbital telorism.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 9, p. 1531, doi. 10.1093/hmg/ddab334

By:

Knol, Maria J;
Pawlak, Mikolaj A;
Lamballais, Sander;
Terzikhan, Natalie;
Hofer, Edith;
Xiong, Ziyi;
Klaver, Caroline C W;
Pirpamer, Lukas;
Vernooij, Meike W;
Ikram, M Arfan;
Schmidt, Reinhold;
Kayser, Manfred;
Evans, Tavia E;
Adams, Hieab H H

Publication type:

Article

Loss of α-actinin-3 confers protection from eccentric contraction damage in fast-twitch EDL muscles from aged mdx dystrophic mice by reducing pathological fibre branching.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 9, p. 1417, doi. 10.1093/hmg/ddab326

By:

Kiriaev, Leonit;
Houweling, Peter J;
North, Kathryn N;
Head, Stewart I

Publication type:

Article

Heterogeneity analysis of the immune microenvironment in laryngeal carcinoma revealed potential prognostic biomarkers.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 9, p. 1487, doi. 10.1093/hmg/ddab332

By:

Qian, Zhipeng;
Shang, Desi;
Fan, Lin;
Zhang, Jiarui;
Ji, Linhao;
Chen, Kexin;
Zhao, Rui

Publication type:

Article

Biallelic ANKS6 mutations cause late-onset ciliopathy with chronic kidney disease through YAP dysregulation.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 9, p. 1357, doi. 10.1093/hmg/ddab322

By:

Schwarz, Hannah;
Popp, Bernt;
Airik, Rannar;
Torabi, Nasrin;
Knaup, Karl X;
Stoeckert, Johanna;
Wiech, Thorsten;
Amann, Kerstin;
Reis, André;
Schiffer, Mario;
Wiesener, Michael S;
Schueler, Markus

Publication type:

Article

Mutations of the histone linker H1–4 in neurodevelopmental disorders and functional characterization of neurons expressing C-terminus frameshift mutant H1.4.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 9, p. 1430, doi. 10.1093/hmg/ddab321

By:

Tremblay, Martine W;
Green, Matthew V;
Goldstein, Benjamin M;
Aldridge, Andrew I;
Rosenfeld, Jill A;
Streff, Haley;
Tan, Wendy D;
Craigen, William;
Bekheirnia, Nasim;
Tala, Saeed Al;
West, Anne E;
Jiang, Yong-hui

Publication type:

Article

Association of PLXND1 with a novel subtype of anomalous pulmonary venous return.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 9, p. 1443, doi. 10.1093/hmg/ddab331

By:

Zhou, Wei-Zhen;
Zeng, Ziyi;
Shen, Huayan;
Chen, Wen;
Li, Tianjiao;
Ma, Baihui;
Sun, Yang;
Yang, Fangfang;
Zhang, Yujing;
Li, Wenke;
Han, Bianmei;
Liu, Xuewen;
Yuan, Meng;
Zhang, Guangxin;
Yang, Yang;
Liu, Xiaoshuang;
Pang, Kun-Jing;
Li, Shou-Jun;
Zhou, Zhou

Publication type:

Article

F-box protein, FBXO7, is required to maintain chromosome stability in humans.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 9, p. 1471, doi. 10.1093/hmg/ddab330

By:

Palmer, Michaela C L;
Neudorf, Nicole M;
Farrell, Ally C;
Razi, Tooba;
Lichtensztejn, Zelda;
McManus, Kirk J

Publication type:

Article

Mouse midbrain dopaminergic neurons survive loss of the PD-associated mitochondrial protein CHCHD2.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 9, p. 1500, doi. 10.1093/hmg/ddab329

By:

Nguyen, Mai K;
McAvoy, Kevin;
Liao, Szu-Chi;
Doric, Zak;
Lo, Iris;
Li, Huihui;
Manfredi, Giovanni;
Nakamura, Ken

Publication type:

Article

Small RNAs encoded by human endogenous retrovirus K overexpressed in PBMCs may contribute to the diagnosis and evaluation of systemic lupus erythematosus as novel biomarkers.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 9, p. 1407, doi. 10.1093/hmg/ddab327

By:

Liu, Xinyi;
Ding, Yanjun;
Zheng, Xiaoqiu;
Huang, He;
Shi, Liyu;
Yang, Xiaolan;
Wei, Jing;
Li, Yang;
Kao, Wenping;
Zhang, Fengmin;
Qian, Jun

Publication type:

Article

Reduced nuclear NAD+ drives DNA damage and subsequent immune activation in the retina.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 9, p. 1370, doi. 10.1093/hmg/ddab324

By:

Brown, Emily E;
Scandura, Michael J;
Mehrotra, Sudeep;
Wang, Yekai;
Du, Jianhai;
Pierce, Eric A

Publication type:

Article