Works matching IS 09646906 AND DT 2024 AND VI 33 AND IP 18

Results: 8

Investigation in yeast of novel variants in mitochondrial aminoacyl-tRNA synthetases WARS2, NARS2, and RARS2 genes associated with mitochondrial diseases.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 18, p. 1630, doi. 10.1093/hmg/ddae104

By:

Figuccia, Sonia;
Izzo, Rossella;
Legati, Andrea;
Nasca, Alessia;
Goffrini, Paola;
Ghezzi, Daniele;
Berti, Camilla Ceccatelli

Publication type:

Article

Deletion of Trps1 regulatory elements recapitulates postnatal hip joint abnormalities and growth retardation of Trichorhinophalangeal syndrome in mice.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 18, p. 1618, doi. 10.1093/hmg/ddae102

By:

Saeki, Naoya;
Inui-Yamamoto, Chizuko;
Ikeda, Yuki;
Kanai, Rinna;
Hata, Kenji;
Itoh, Shousaku;
Inubushi, Toshihiro;
Akiyama, Shigehisa;
Ohba, Shinsuke;
Abe, Makoto

Publication type:

Article

Reduced levels of MRE11 cause disease phenotypes distinct from ataxia telangiectasia-like disorder.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 18, p. 1605, doi. 10.1093/hmg/ddae101

By:

Hartlerode, Andrea J;
Mostafa, Ahmed M;
Orban, Steven K;
Benedeck, Rachel;
Campbell, Koral;
Hoenerhoff, Mark J;
Ferguson, David O;
Sekiguchi, JoAnn M

Publication type:

Article

The expression of congenital Shoc2 variants induces AKT-dependent crosstalk activation of the ERK1/2 pathway.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 18, p. 1592, doi. 10.1093/hmg/ddae100

By:

Wilson, Patricia G;
Abdelmoti, Lina;
Gao, Tianyan;
Galperin, Emilia

Publication type:

Article

Multi-ancestry polygenic risk scores for venous thromboembolism.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 18, p. 1584, doi. 10.1093/hmg/ddae097

By:

Jee, Yon Ho;
Thibord, Florian;
Dominguez, Alicia;
Sept, Corriene;
Boulier, Kristin;
Venkateswaran, Vidhya;
Ding, Yi;
Cherlin, Tess;
Verma, Shefali Setia;
Faro, Valeria Lo;
Bartz, Traci M;
Boland, Anne;
Brody, Jennifer A;
Deleuze, Jean-Francois;
Emmerich, Joseph;
Germain, Marine;
Johnson, Andrew D;
Kooperberg, Charles;
Morange, Pierre-Emmanuel;
Pankratz, Nathan

Publication type:

Article

The maternal protein NLRP5 stabilizes UHRF1 in the cytoplasm: implication for the pathogenesis of multilocus imprinting disturbance.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 18, p. 1575, doi. 10.1093/hmg/ddae096

By:

Unoki, Motoko;
Uemura, Shuhei;
Fujimoto, Akihiro;
Sasaki, Hiroyuki

Publication type:

Article

Extended haplotype with rs41524547-G defines the ancestral origin of SCA10.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 18, p. 1567, doi. 10.1093/hmg/ddae092

By:

McFarland, Karen N;
Tiwari, Anjana;
Hashem, Vera;
Zhang, Linwei;
Zeng, Desmond;
Vincent, Justin;
Arredondo, Maria J;
Johnson, Kristy L;
Gan, Shi Rui;
Yabe, Ichiro;
Skov, Laurits;
Rasmussen, Astrid;
Ashizawa, Tetsuo

Publication type:

Article

Mutations in the non-catalytic polyproline motif destabilize TREX1 and amplify cGAS-STING signaling.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 18, p. 1555, doi. 10.1093/hmg/ddae089

By:

Shim, Abraham;
Luan, Xiaohan;
Zhou, Wen;
Crow, Yanick J;
Maciejowski, John

Publication type:

Article