Works matching IS 09646906 AND DT 2019 AND VI 28 AND IP 18
Results: 16
Mendelian randomization analysis of celiac GWAS reveals a blood expression signature with diagnostic potential in absence of gluten consumption.
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- Human Molecular Genetics, 2019, v. 28, n. 18, p. 3037, doi. 10.1093/hmg/ddz113
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Mouse model of severe recessive RYR1-related myopathy.
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- Human Molecular Genetics, 2019, v. 28, n. 18, p. 3024, doi. 10.1093/hmg/ddz105
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Mouse models of X-linked juvenile retinoschisis have an early onset phenotype, the severity of which varies with genotype.
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- Human Molecular Genetics, 2019, v. 28, n. 18, p. 3072, doi. 10.1093/hmg/ddz122
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Non-self mutation: double-stranded RNA elicits antiviral pathogenic response in a Drosophila model of expanded CAG repeat neurodegenerative diseases.
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- Human Molecular Genetics, 2019, v. 28, n. 18, p. 3000, doi. 10.1093/hmg/ddz096
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Prader–Willi syndrome imprinting centre deletion mice have impaired baseline and 5-HT<sub>2C</sub>R-mediated response inhibition.
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- Human Molecular Genetics, 2019, v. 28, n. 18, p. 3013, doi. 10.1093/hmg/ddz100
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Pyridox (am) ine 5'-phosphate oxidase deficiency induces seizures in Drosophila melanogaster.
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- Human Molecular Genetics, 2019, v. 28, n. 18, p. 3126, doi. 10.1093/hmg/ddz143
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Quantitative RyR1 reduction and loss of calcium sensitivity of RyR1Q1970fsX16+A4329D cause cores and loss of muscle strength.
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- Human Molecular Genetics, 2019, v. 28, n. 18, p. 2987, doi. 10.1093/hmg/ddz092
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RNA editing alterations in a multi-ethnic Alzheimer disease cohort converge on immune and endocytic molecular pathways.
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- Human Molecular Genetics, 2019, v. 28, n. 18, p. 3053, doi. 10.1093/hmg/ddz110
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An anti-RANKL treatment reduces muscle inflammation and dysfunction and strengthens bone in dystrophic mice.
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- Human Molecular Genetics, 2019, v. 28, n. 18, p. 3101, doi. 10.1093/hmg/ddz124
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Cdk5 increases MARK4 activity and augments pathological tau accumulation and toxicity through tau phosphorylation at Ser262.
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- Human Molecular Genetics, 2019, v. 28, n. 18, p. 3062, doi. 10.1093/hmg/ddz120
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Characterization of the mechanisms by which missense mutations in the lysosomal acid lipase gene disrupt enzymatic activity.
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- Human Molecular Genetics, 2019, v. 28, n. 18, p. 3043, doi. 10.1093/hmg/ddz114
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- Article
Combined analysis of keratinocyte cancers identifies novel genome-wide loci.
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- Human Molecular Genetics, 2019, v. 28, n. 18, p. 3148, doi. 10.1093/hmg/ddz121
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Decreased ACKR3 (CXCR7) function causes oculomotor synkinesis in mice and humans.
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- Human Molecular Genetics, 2019, v. 28, n. 18, p. 3113, doi. 10.1093/hmg/ddz137
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Functional muscle recovery following dystrophin and myostatin exon splice modulation in aged mdx mice.
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- Human Molecular Genetics, 2019, v. 28, n. 18, p. 3091, doi. 10.1093/hmg/ddz125
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- Article
A gene regulatory network explains RET–EDNRB epistasis in Hirschsprung disease.
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- Human Molecular Genetics, 2019, v. 28, n. 18, p. 3137, doi. 10.1093/hmg/ddz149
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- Article
Amyotrophic lateral sclerosis-associated TDP-43 mutation Q331K prevents nuclear translocation of XRCC4-DNA ligase 4 complex and is linked to genome damage-mediated neuronal apoptosis.
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- Human Molecular Genetics, 2019, v. 28, n. 18, p. 3161, doi. 10.1093/hmg/ddz141
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- Article