Works matching IS 09646906 AND DT 2023 AND VI 32 AND IP 15

Results: 12

Activation of the cGAS-STING innate immune response in cells with deficient mitochondrial topoisomerase TOP1MT.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 15, p. 2422, doi. 10.1093/hmg/ddad062

By:

Khatib, Iman Al;
Deng, Jingti;
Lei, Yuanjiu;
Torres-Odio, Sylvia;
Rojas, Gladys R;
Newman, Laura E;
Chung, Brian K;
Symes, Andrew;
Zhang, Hongliang;
Huang, Shar-yin N;
Pommier, Yves;
Khan, Aneal;
Shadel, Gerald S;
West, Andrew Phillip;
Gibson, William T;
Shutt, Timothy E

Publication type:

Article

Gene copy number variation and pediatric mental health/neurodevelopment in a general population.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 15, p. 2411, doi. 10.1093/hmg/ddad074

By:

Zarrei, Mehdi;
Burton, Christie L;
Engchuan, Worrawat;
Higginbotham, Edward J;
Wei, John;
Shaikh, Sabah;
Roslin, Nicole M;
MacDonald, Jeffrey R;
Pellecchia, Giovanna;
Nalpathamkalam, Thomas;
Lamoureux, Sylvia;
Manshaei, Roozbeh;
Howe, Jennifer;
Trost, Brett;
Thiruvahindrapuram, Bhooma;
Marshall, Christian R;
Yuen, Ryan K C;
Wintle, Richard F;
Strug, Lisa J;
Stavropoulos, Dimitri J

Publication type:

Article

A new mouse model of ATR-X syndrome carrying a common patient mutation exhibits neurological and morphological defects.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 15, p. 2485, doi. 10.1093/hmg/ddad075

By:

Tillotson, Rebekah;
Yan, Keqin;
Ruston, Julie;
DeYoung, Taylor;
Córdova, Alex;
Turcotte-Cardin, Valérie;
Yee, Yohan;
Taylor, Christine;
Visuvanathan, Shagana;
Babbs, Christian;
Ivakine, Evgueni A;
Sled, John G;
Nieman, Brian J;
Picketts, David J;
Justice, Monica J

Publication type:

Article

The clinical features and TCAP mutation spectrum in a Chinese cohort of patients with limb-girdle muscular dystrophy R7.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 15, p. 2502, doi. 10.1093/hmg/ddad090

By:

Lv, Xiaoqing;
Lin, Feng;
Wu, Wenjing;
Wang, Hui;
Luo, Yuebei;
Wang, Zhiqiang;
Yan, Chuanzhu;
Lv, He;
Luo, Sushan;
Lin, Pengfei

Publication type:

Article

FOXG1 targets BMP repressors and cell cycle inhibitors in human neural progenitor cells.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 15, p. 2511, doi. 10.1093/hmg/ddad089

By:

Hettige, Nuwan C;
Fleming, Peter;
Semenak, Amelia;
Zhang, Xin;
Peng, Huashan;
Hagel, Marc-Daniel;
Théroux, Jean-François;
Zhang, Ying;
Ni, Anjie;
Jefri, Malvin;
Antonyan, Lilit;
Alsuwaidi, Shaima;
Schuppert, Andreas;
Stumpf, Patrick S;
Ernst, Carl

Publication type:

Article

Toward a deeper understanding of child mental health: commentary on 'gene copy number variation and pediatric mental health/neurodevelopment in a general population'.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 15, p. 2409, doi. 10.1093/hmg/ddad088

By:

Frazier, Thomas W

Publication type:

Article

Genetic architecture of plasma Alzheimer disease biomarkers.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 15, p. 2532, doi. 10.1093/hmg/ddad087

By:

Bradley, Joseph;
Gorijala, Priyanka;
Schindler, Suzanne E;
Sung, Yun J;
Ances, Beau;
Initiative, the Alzheimer's Disease Neuroimaging;
Fernandez, Maria V;
Cruchaga, Carlos

Publication type:

Article

Rare protective variants and glaucoma-relevant cell stressors modulate Angiopoietin-like 7 expression.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 15, p. 2523, doi. 10.1093/hmg/ddad083

By:

Aboobakar, Inas F;
Collantes, Edward Ryan A;
Hauser, Michael A;
Stamer, W Daniel;
Wiggs, Janey L

Publication type:

Article

An in vivo functional assay to characterize human STAT5B genetic variants during zebrafish development.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 15, p. 2473, doi. 10.1093/hmg/ddad078

By:

Landi, Estefanía;
Karabatas, Liliana;
Gomez, Tomás Rodríguez;
Salatino, Lucía;
Scaglia, Paula;
Ramírez, Laura;
Keselman, Ana;
Braslavsky, Débora;
Sanguineti, Nora;
Pennisi, Patricia;
Rey, Rodolfo A;
Bergadá, Ignacio;
Jasper, Héctor G;
Domené, Horacio M;
Plazas, Paola V;
Domené, Sabina

Publication type:

Article

Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 15, p. 2441, doi. 10.1093/hmg/ddad069

By:

Amarasekera, Sumudu S C;
Hock, Daniella H;
Lake, Nicole J;
Calvo, Sarah E;
Grønborg, Sabine W;
Krzesinski, Emma I;
Amor, David J;
Fahey, Michael C;
Simons, Cas;
Wibrand, Flemming;
Mootha, Vamsi K;
Lek, Monkol;
Lunke, Sebastian;
Stark, Zornitza;
Østergaard, Elsebet;
Christodoulou, John;
Thorburn, David R;
Stroud, David A;
Compton, Alison G

Publication type:

Article

Elucidating the toxic effect and disease mechanisms associated with Lyso-Gb3 in Fabry disease.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 15, p. 2464, doi. 10.1093/hmg/ddad073

By:

Nikolaenko, Valeria;
Warnock, David G;
Mills, Kevin;
Heywood, Wendy E

Publication type:

Article

Inhibition of nonsense-mediated mRNA decay may improve stop codon read-through therapy for Duchenne muscular dystrophy.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 15, p. 2455, doi. 10.1093/hmg/ddad072

By:

Amar-Schwartz, Adi;
Cohen, Yuval;
Elhaj, Antony;
Ben-Hur, Vered;
Siegfried, Zahava;
Karni, Rotem;
Dor, Talya

Publication type:

Article