Works matching IS 09646906 AND DT 2022 AND VI 31 AND IP 14
Results: 15
Lysosomal ceramides regulate cathepsin B-mediated processing of saposin C and glucocerebrosidase activity.
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- Human Molecular Genetics, 2022, v. 31, n. 14, p. 2424, doi. 10.1093/hmg/ddac047
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- Article
Choroidal endothelial and macrophage gene expression in atrophic and neovascular macular degeneration.
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- Human Molecular Genetics, 2022, v. 31, n. 14, p. 2406, doi. 10.1093/hmg/ddac043
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- Article
Sunitinib inhibits STAT3 phosphorylation in cardiac muscle and prevents cardiomyopathy in the mdx mouse model of Duchenne muscular dystrophy.
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- Human Molecular Genetics, 2022, v. 31, n. 14, p. 2358, doi. 10.1093/hmg/ddac042
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- Article
Distinct roles of the dystrophin–glycoprotein complex: α-dystrobrevin and α-syntrophin in the maintenance of the postsynaptic apparatus of the neuromuscular synapse.
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- Human Molecular Genetics, 2022, v. 31, n. 14, p. 2370, doi. 10.1093/hmg/ddac041
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- Article
Ambroxol reverses tau and α-synuclein accumulation in a cholinergic N370S GBA1 mutation model.
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- Human Molecular Genetics, 2022, v. 31, n. 14, p. 2396, doi. 10.1093/hmg/ddac038
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- Article
Polygenic risk impacts PDGFRA mutation penetrance in non-syndromic cleft lip and palate.
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- Human Molecular Genetics, 2022, v. 31, n. 14, p. 2348, doi. 10.1093/hmg/ddac037
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- Article
Clonal hematopoiesis as a pitfall in germline variant interpretation in the context of Mendelian disorders.
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- Human Molecular Genetics, 2022, v. 31, n. 14, p. 2386, doi. 10.1093/hmg/ddac034
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- Article
Long-term vitamin A supplementation in a preclinical mouse model for RhoD190N-associated retinitis pigmentosa.
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- Human Molecular Genetics, 2022, v. 31, n. 14, p. 2438, doi. 10.1093/hmg/ddac032
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- Article
ciliary transition zone protein TMEM218 synergistically interacts with the NPHP module and its reduced dosage leads to a wide range of syndromic ciliopathies.
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- Human Molecular Genetics, 2022, v. 31, n. 14, p. 2295, doi. 10.1093/hmg/ddac027
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Proteomic profiling identifies novel proteins for genetic risk of severe COVID-19: the Atherosclerosis Risk in Communities Study.
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- Human Molecular Genetics, 2022, v. 31, n. 14, p. 2452, doi. 10.1093/hmg/ddac024
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- Article
Association with HLA-DRβ1 position 37 distinguishes juvenile dermatomyositis from adult-onset myositis.
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- Human Molecular Genetics, 2022, v. 31, n. 14, p. 2471, doi. 10.1093/hmg/ddac019
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- Article
Accounting for nonlinear effects of gene expression identifies additional associated genes in transcriptome-wide association studies.
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- Human Molecular Genetics, 2022, v. 31, n. 14, p. 2462, doi. 10.1093/hmg/ddac015
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- Article
Mechanistic convergence across initiation sites for RAN translation in fragile X associated tremor ataxia syndrome.
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- Human Molecular Genetics, 2022, v. 31, n. 14, p. 2317, doi. 10.1093/hmg/ddab353
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- Article
Transcriptome-wide association study in UK Biobank Europeans identifies associations with blood cell traits.
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- Human Molecular Genetics, 2022, v. 31, n. 14, p. 2333, doi. 10.1093/hmg/ddac011
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- Article
Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions.
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- Human Molecular Genetics, 2022, v. 31, n. 14, p. 2307, doi. 10.1093/hmg/ddab366
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- Article