Works matching IS 09646906 AND DT 2022 AND VI 31 AND IP 13

Results: 13

Multisystem involvement, defective lysosomes and impaired autophagy in a novel rat model of nephropathic cystinosis.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 13, p. 2262, doi. 10.1093/hmg/ddac033

By:

Krohn, Patrick;
Rega, Laura Rita;
Harvent, Marianne;
Festa, Beatrice Paola;
Taranta, Anna;
Luciani, Alessandro;
Dewulf, Joseph;
Cremonesi, Alessio;
Camassei, Francesca Diomedi;
Hanson, James V M;
Gerth-Kahlert, Christina;
Emma, Francesco;
Berquez, Marine;
Devuyst, Olivier

Publication type:

Article

renal inflammatory network of nephronophthisis.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 13, p. 2121, doi. 10.1093/hmg/ddac014

By:

Quatredeniers, Marceau;
Bienaimé, Frank;
Ferri, Giulia;
Isnard, Pierre;
Porée, Esther;
Billot, Katy;
Birgy, Eléonore;
Mazloum, Manal;
Ceccarelli, Salomé;
Silbermann, Flora;
Braeg, Simone;
Nguyen-Khoa, Thao;
Salomon, Rémi;
Gubler, Marie-Claire;
Kuehn, E Wolfgang;
Saunier, Sophie;
Viau, Amandine

Publication type:

Article

Ancestry- and sex-specific effects underlying inguinal hernia susceptibility identified in a multiethnic genome-wide association study meta-analysis.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 13, p. 2279, doi. 10.1093/hmg/ddac003

By:

Choquet, Hélène;
Li, Weiyu;
Yin, Jie;
Bradley, Rachael;
Hoffmann, Thomas J;
Nandakumar, Priyanka;
Team, 23 and Me Research;
Mostaedi, Rouzbeh;
Tian, Chao;
Ahituv, Nadav;
Jorgenson, Eric

Publication type:

Article

NSD1 mutations deregulate transcription and DNA methylation of bivalent developmental genes in Sotos syndrome.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 13, p. 2164, doi. 10.1093/hmg/ddac026

By:

Brennan, Kevin;
Zheng, Hong;
Fahrner, Jill A;
Shin, June Ho;
Gentles, Andrew J;
Schaefer, Bradley;
Sunwoo, John B;
Bernstein, Jonathan A;
Gevaert, Olivier

Publication type:

Article

Correction to: Genome-wide association studies identify two novel loci conferring susceptibility to diabetic retinopathy in Japanese patients with type 2 diabetes.

Published in:: Human Molecular Genetics, 2022, v. 31, n. 13, p. 2294, doi. 10.1093/hmg/ddac090
Publication type:: Article

TNFRSF10A downregulation induces retinal pigment epithelium degeneration during the pathogenesis of age-related macular degeneration and central serous chorioretinopathy.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 13, p. 2194, doi. 10.1093/hmg/ddac020

By:

Mori, Kenichiro;
Ishikawa, Keijiro;
Fukuda, Yosuke;
Ji, Rui;
Wada, Iori;
Kubo, Yuki;
Akiyama, Masato;
Notomi, Shoji;
Murakami, Yusuke;
Nakao, Shintaro;
Arakawa, Satoshi;
Shiose, Satomi;
Hisatomi, Toshio;
Yoshida, Shigeo;
Kannan, Ram;
Sonoda, Koh-Hei

Publication type:

Article

Influence of PRKCE non-synonymous variants on protein dynamics and functionality.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 13, p. 2236, doi. 10.1093/hmg/ddac029

By:

Khan, Khushbukhat;
Shah, Hania;
Rehman, Areeba;
Badshah, Yasmin;
Ashraf, Naeem M;
Shabbir, Maria

Publication type:

Article

Multiomics analyses reveal early metabolic imbalance and mitochondrial stress in neonatal photoreceptors leading to cell death in Pde6brd1/rd1 mouse model of retinal degeneration.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 13, p. 2137, doi. 10.1093/hmg/ddac013

By:

Jiang, Ke;
Mondal, Anupam Kumar;
Adlakha, Yogita K;
Gumerson, Jessica;
Aponte, Angel;
Gieser, Linn;
Kim, Jung-Woong;
Boleda, Alexis;
Brooks, Matthew J;
Nellissery, Jacob;
Fox, Donald A;
Balaban, Robert;
Covian, Raul;
Swaroop, Anand

Publication type:

Article

BTBD9 attenuates manganese-induced oxidative stress and neurotoxicity by regulating insulin growth factor signaling pathway.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 13, p. 2207, doi. 10.1093/hmg/ddac025

By:

Chen, Pan;
Cheng, Hong;
Zheng, Fuli;
Li, Shaojun;
Bornhorst, Julia;
Yang, Bobo;
Lee, Kun He;
Ke, Tao;
Li, Yunhui;
Schwerdtle, Tanja;
Yang, Xiaobo;
Bowman, Aaron B;
Aschner, Michael

Publication type:

Article

Two ovarian candidate enhancers, identified by time series enhancer RNA analyses, harbor rare genetic variations identified in ovarian insufficiency.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 13, p. 2223, doi. 10.1093/hmg/ddac023

By:

Nakagawa, Ryuichi;
Takasawa, Kei;
Gau, Maki;
Tsuji-Hosokawa, Atsumi;
Kawaji, Hideya;
Murakawa, Yasuhiro;
Takada, Shuji;
Mikami, Masashi;
Narumi, Satoshi;
Fukami, Maki;
Sreenivasan, Rajini;
Maruyama, Tetsuo;
Tucker, Elena J;
Zhao, Liang;
Bowles, Josephine;
Sinclair, Andrew;
Koopman, Peter;
Hayashizaki, Yoshihide;
Morio, Tomohiro;
Kashimada, Kenichi

Publication type:

Article

Associations of genetic variation in E3 SUMO-protein ligase CBX4 with noise-induced hearing loss.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 13, p. 2109, doi. 10.1093/hmg/ddac006

By:

Wang, Boshen;
Wan, Liu;
Sun, Peng;
Zhang, Ludi;
Han, Lei;
Zhang, Hengdong;
Zhang, Juan;
Pu, Yuepu;
Zhu, Baoli

Publication type:

Article

Identification of the genetic mechanism that associates L3MBTL3 to multiple sclerosis.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 13, p. 2155, doi. 10.1093/hmg/ddac009

By:

Alcina, Antonio;
Fedetz, Maria;
Vidal-Cobo, Isabel;
Andrés-León, Eduardo;
García-Sánchez, Maria-Isabel;
Barroso-del-Jesus, Alicia;
Eichau, Sara;
Gil-Varea, Elia;
Villar, Luisa-Maria;
Saiz, Albert;
Leyva, Laura;
Vandenbroeck, Koen;
Otaegui, David;
Izquierdo, Guillermo;
Comabella, Manuel;
Urcelay, Elena;
Matesanz, Fuencisla

Publication type:

Article

Single-cell transcription profiles in Bloom syndrome patients link BLM deficiency with altered condensin complex expression signatures.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 13, p. 2185, doi. 10.1093/hmg/ddab373

By:

Gönenc, Ipek Ilgin;
Wolff, Alexander;
Schmidt, Julia;
Zibat, Arne;
Müller, Christian;
Cyganek, Lukas;
Argyriou, Loukas;
Räschle, Markus;
Yigit, Gökhan;
Wollnik, Bernd

Publication type:

Article