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

Results: 13

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
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
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
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
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
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
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
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
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