Works matching IS 09646906 AND DT 2023 AND VI 32 AND IP 2

Results: 13

Genomic features of renal cell carcinoma developed during end-stage renal disease and dialysis.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 2, p. 290, doi. 10.1093/hmg/ddac180

By:

Johnson, Todd A;
Maekawa, Shigekatsu;
Fujita, Masashi;
An, Jisong;
Ju, Young-Seok;
Maejima, Kazuhiro;
Kanazashi, Yuki;
Jikuya, Ryosuke;
Okawa, Yuki;
Sasagawa, Shota;
Yagi, Ken;
Okazaki, Yasushi;
Kuroda, Naoto;
Takata, Ryo;
Obara, Wataru;
Nakagawa, Hidewaki

Publication type:

Article

Molecular mechanism underlying impaired hepatic autophagy in glycogen storage disease type Ib.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 2, p. 262, doi. 10.1093/hmg/ddac197

By:

Gautam, Sudeep;
Zhang, Lisa;
Lee, Cheol;
Arnaoutova, Irina;
Chen, Hung Dar;
Resaz, Roberta;
Eva, Alessandra;
Mansfield, Brian C;
Chou, Janice Y

Publication type:

Article

Abnormal morphology and function in retinal ganglion cells derived from patients-specific iPSCs generated from individuals with Leber's hereditary optic neuropathy.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 2, p. 231, doi. 10.1093/hmg/ddac190

By:

Nie, Zhipeng;
Wang, Chenghui;
Chen, Jiarong;
Ji, Yanchun;
Zhang, Hongxing;
Zhao, Fuxin;
Zhou, Xiangtian;
Guan, Min-Xin

Publication type:

Article

Evaluating and implementing block jackknife resampling Mendelian randomization to mitigate bias induced by overlapping samples.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 2, p. 192, doi. 10.1093/hmg/ddac186

By:

Fang, Si;
Hemani, Gibran;
Richardson, Tom G;
Gaunt, Tom R;
Smith, George Davey

Publication type:

Article

Correction to: Proteomic profiling identifies novel proteins for genetic risk of severe COVID-19: the Atherosclerosis Risk in Communities Study.

Published in:: Human Molecular Genetics, 2023, v. 32, n. 2, p. 351, doi. 10.1093/hmg/ddac280
Publication type:: Article

Stress granule assembly in vivo is deficient in the CNS of mutant TDP-43 ALS mice.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 2, p. 319, doi. 10.1093/hmg/ddac206

By:

Dubinski, Alicia;
Gagné, Myriam;
Peyrard, Sarah;
Gordon, David;
Talbot, Kevin;
Velde, Christine Vande

Publication type:

Article

Mitofusin 2 mutation drives cell proliferation in Charcot-Marie-Tooth 2A fibroblasts.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 2, p. 333, doi. 10.1093/hmg/ddac201

By:

Zanfardino, Paola;
Longo, Giovanna;
Amati, Alessandro;
Morani, Federica;
Picardi, Ernesto;
Girolamo, Francesco;
Pafundi, Mariella;
Cox, Sharon N;
Manzari, Caterina;
Tullo, Apollonia;
Doccini, Stefano;
Santorelli, Filippo M;
Petruzzella, Vittoria

Publication type:

Article

Cell type-specific DNA methylome signatures reveal epigenetic mechanisms for neuronal diversity and neurodevelopmental disorder.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 2, p. 218, doi. 10.1093/hmg/ddac189

By:

Jin, Yulin;
Su, Kenong;
Kong, Ha Eun;
Ma, Wenjing;
Wang, Zhiqin;
Li, Yujing;
Li, Ronghua;
Allen, Emily G;
Wu, Hao;
Jin, Peng

Publication type:

Article

Cutaneous manifestations in Costello syndrome: HRAS p.Gly12Ser affects RIN1-mediated integrin trafficking in immortalized epidermal keratinocytes.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 2, p. 304, doi. 10.1093/hmg/ddac188

By:

Nauth, Theresa;
Bazgir, Farhad;
Voß, Hannah;
Brandenstein, Laura I;
Mosaddeghzadeh, Niloufar;
Rickassel, Verena;
Deden, Sophia;
Gorzelanny, Christian;
Schlüter, Hartmut;
Ahmadian, Mohammad R;
Rosenberger, Georg

Publication type:

Article

Complement factor B is critical for sub-RPE deposit accumulation in a model of Doyne honeycomb retinal dystrophy with features of age-related macular degeneration.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 2, p. 204, doi. 10.1093/hmg/ddac187

By:

Crowley, Maura A;
Garland, Donita L;
Sellner, Holger;
Banks, Angela;
Fan, Lin;
Rejtar, Tomas;
Buchanan, Natasha;
Delgado, Omar;
Xu, Yong Yao;
Jose, Sandra;
Adams, Christopher M;
Mogi, Muneto;
Wang, Karen;
Bigelow, Chad E;
Poor, Stephen;
Anderson, Karen;
Jaffee, Bruce D;
Prasanna, Ganesh;
Grosskreutz, Cynthia;
Fernandez-Godino, Rosario

Publication type:

Article

Nesprin-1 LINC complexes recruit microtubule cytoskeleton proteins and drive pathology in Lmna-mutant striated muscle.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 2, p. 177, doi. 10.1093/hmg/ddac179

By:

Leong, Ei Leen;
Khaing, Nyein Thet;
Cadot, Bruno;
Hong, Wei Liang;
Kozlov, Serguei;
Werner, Hendrikje;
Wong, Esther Sook Miin;
Stewart, Colin L;
Burke, Brian;
Lee, Yin Loon

Publication type:

Article

Deleting Snord115 genes in mice remodels monoaminergic systems activity in the brain toward cortico-subcortical imbalances.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 2, p. 244, doi. 10.1093/hmg/ddac139

By:

Marty, Virginie;
Butler, Jasmine J;
Coutens, Basile;
Chargui, Oumaima;
Chagraoui, Abdeslam;
Guiard, Bruno P;
Deurwaerdère, Philippe De;
Cavaillé, Jérôme

Publication type:

Article

Trametinib as a promising therapeutic option in alleviating vascular defects in an endothelial KRAS-induced mouse model.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 2, p. 276, doi. 10.1093/hmg/ddac169

By:

Nguyen, Ha-Long;
Boon, Laurence M;
Vikkula, Miikka

Publication type:

Article