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
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- Article
Deletion of Trps1 regulatory elements recapitulates postnatal hip joint abnormalities and growth retardation of Trichorhinophalangeal syndrome in mice.
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- Human Molecular Genetics, 2024, v. 33, n. 18, p. 1618, doi. 10.1093/hmg/ddae102
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- Article
Reduced levels of MRE11 cause disease phenotypes distinct from ataxia telangiectasia-like disorder.
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- Human Molecular Genetics, 2024, v. 33, n. 18, p. 1605, doi. 10.1093/hmg/ddae101
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- Article
The expression of congenital Shoc2 variants induces AKT-dependent crosstalk activation of the ERK1/2 pathway.
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- Human Molecular Genetics, 2024, v. 33, n. 18, p. 1592, doi. 10.1093/hmg/ddae100
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- Article
Multi-ancestry polygenic risk scores for venous thromboembolism.
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- Human Molecular Genetics, 2024, v. 33, n. 18, p. 1584, doi. 10.1093/hmg/ddae097
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- Article
The maternal protein NLRP5 stabilizes UHRF1 in the cytoplasm: implication for the pathogenesis of multilocus imprinting disturbance.
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- Human Molecular Genetics, 2024, v. 33, n. 18, p. 1575, doi. 10.1093/hmg/ddae096
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- Article
Mutations in the non-catalytic polyproline motif destabilize TREX1 and amplify cGAS-STING signaling.
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- Human Molecular Genetics, 2024, v. 33, n. 18, p. 1555, doi. 10.1093/hmg/ddae089
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- Article
Extended haplotype with rs41524547-G defines the ancestral origin of SCA10.
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- Human Molecular Genetics, 2024, v. 33, n. 18, p. 1567, doi. 10.1093/hmg/ddae092
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- Article