Works matching IS 09646906 AND DT 2018 AND VI 27 AND IP 1
Results: 16
The biological impact of blood pressure-associated genetic variants in the natriuretic peptide receptor C gene on human vascular smooth muscle.
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- Human Molecular Genetics, 2018, v. 27, n. 1, p. 199, doi. 10.1093/hmg/ddx375
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- Article
Loss of p300 and CBP disrupts histone acetylation at the mouse Sry promoter and causes XY gonadal sex reversal.
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- Human Molecular Genetics, 2018, v. 27, n. 1, p. 190, doi. 10.1093/hmg/ddx398
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- Article
Loss of CHCHD10-CHCHD2 complexes required for respiration underlies the pathogenicity of a CHCHD10 mutation in ALS.
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- Human Molecular Genetics, 2018, v. 27, n. 1, p. 178, doi. 10.1093/hmg/ddx393
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- Article
In vitro and in vivo studies of the ALS-FTLD protein CHCHD10 reveal novel mitochondrial topology and protein interactions.
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- Human Molecular Genetics, 2018, v. 27, n. 1, p. 160, doi. 10.1093/hmg/ddx397
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- Article
Changes in extracellular matrix cause RPE cells to make basal deposits and activate the alternative complement pathway.
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- Human Molecular Genetics, 2018, v. 27, n. 1, p. 147, doi. 10.1093/hmg/ddx392
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- Article
Mining DNA methylation alterations towards a classification of placental pathologies.
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- Human Molecular Genetics, 2018, v. 27, n. 1, p. 135, doi. 10.1093/hmg/ddx391
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- Article
G2019S LRRK2 enhances the neuronal transmission of tau in the mouse brain.
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- Human Molecular Genetics, 2018, v. 27, n. 1, p. 120, doi. 10.1093/hmg/ddx389
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- Article
Isl1 mediates mesenchymal expansion in the developing external genitalia via regulation of Bmp4, Fgf10 and Wnt5a.
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- Human Molecular Genetics, 2018, v. 27, n. 1, p. 107, doi. 10.1093/hmg/ddx388
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- Article
Loss of Drosophila FMRP leads to alterations in energy metabolism and mitochondrial function.
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- Human Molecular Genetics, 2018, v. 27, n. 1, p. 95, doi. 10.1093/hmg/ddx387
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- Article
Cx32 hemichannel opening by cytosolic Ca<sup>2+</sup> is inhibited by the R220X mutation that causes Charcot-Marie-Tooth disease.
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- Human Molecular Genetics, 2018, v. 27, n. 1, p. 80, doi. 10.1093/hmg/ddx386
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- Article
Combined microRNA and mRNA expression analysis in pediatric multiple sclerosis: an integrated approach to uncover novel pathogenic mechanisms of the disease.
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- Human Molecular Genetics, 2018, v. 27, n. 1, p. 66, doi. 10.1093/hmg/ddx385
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- Article
Gelsolin pathogenic Gly167Arg mutation promotes domain-swap dimerization of the protein.
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- Human Molecular Genetics, 2018, v. 27, n. 1, p. 53, doi. 10.1093/hmg/ddx383
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- Article
Modeling neuro-immune interactions during Zika virus infection.
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- Human Molecular Genetics, 2018, v. 27, n. 1, p. 41, doi. 10.1093/hmg/ddx382
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- Article
Hippocampal phosphorylated tau induced cognitive decline, dendritic spine loss and mitochondrial abnormalities in a mouse model of Alzheimer's disease.
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- Human Molecular Genetics, 2018, v. 27, n. 1, p. 30, doi. 10.1093/hmg/ddx381
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- Article
Macrophages escape Klotho gene silencing in the mdx mouse model of Duchenne muscular dystrophy and promote muscle growth and increase satellite cell numbers through a Klotho-mediated pathway.
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- Human Molecular Genetics, 2018, v. 27, n. 1, p. 14, doi. 10.1093/hmg/ddx380
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- Article
Constitutively-active FGFR3 disrupts primary cilium length and IFT20 trafficking in various chondrocyte models of achondroplasia.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 1, p. 1, doi. 10.1093/hmg/ddx374
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- Article