Works matching IS 09646906 AND DT 2016 AND VI 25 AND IP 4
Results: 18
Hypothermia improves disease manifestations in SMA mice via SMN augmentation.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 4, p. 631, doi. 10.1093/hmg/ddv500
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- Article
Aberrant disulphide bonding contributes to the ER retention of alpha1-antitrypsin deficiency variants.
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- Human Molecular Genetics, 2016, v. 25, n. 4, p. 642, doi. 10.1093/hmg/ddv501
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- Article
Combined use of Saccharomyces cerevisiae, Caenorhabditis elegans and patient fibroblasts leads to the identification of clofilium tosylate as a potential therapeutic chemical against POLG-related diseases.
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- Human Molecular Genetics, 2016, v. 25, n. 4, p. 715, doi. 10.1093/hmg/ddv509
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- Article
Genome-wide association study of dental caries in the Hispanic Communities Health Study/Study of Latinos (HCHS/SOL).
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- Human Molecular Genetics, 2016, v. 25, n. 4, p. 807, doi. 10.1093/hmg/ddv506
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- Article
Deletion of the miR-379/miR-410 gene cluster at the imprinted Dlk1-Dio3 locus enhances anxiety-related behaviour.
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- Human Molecular Genetics, 2016, v. 25, n. 4, p. 728, doi. 10.1093/hmg/ddv510
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- Article
PARK2 enhancement is able to compensate mitophagy alterations found in sporadic Alzheimer's disease.
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- Human Molecular Genetics, 2016, v. 25, n. 4, p. 792, doi. 10.1093/hmg/ddv616
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- Article
Irf6 directly regulates Klf17 in zebrafish periderm and Klf4 in murine oral epithelium, and dominant-negative KLF4 variants are present in patients with cleft lip and palate.
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- Human Molecular Genetics, 2016, v. 25, n. 4, p. 766, doi. 10.1093/hmg/ddv614
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- Article
Synphilin-1 attenuates mutant LRRK2-induced neurodegeneration in Parkinson's disease models.
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- Human Molecular Genetics, 2016, v. 25, n. 4, p. 672, doi. 10.1093/hmg/ddv504
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- Article
Tissue-specific modulation of mitochondrial DNA segregation by a defect in mitochondrial division.
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- Human Molecular Genetics, 2016, v. 25, n. 4, p. 706, doi. 10.1093/hmg/ddv508
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- Article
Mitochondrial disease genes COA6, COX6B and SCO2 have overlapping roles in COX2 biogenesis.
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- Human Molecular Genetics, 2016, v. 25, n. 4, p. 660, doi. 10.1093/hmg/ddv503
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- Article
Chronic gastroesophageal reflux disease shares genetic background with esophageal adenocarcinoma and Barrett's esophagus.
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- Human Molecular Genetics, 2016, v. 25, n. 4, p. 828, doi. 10.1093/hmg/ddv512
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- Article
Genome-wide DNA methylation study identifies genes associated with the cardiovascular biomarker GDF-15.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 4, p. 817, doi. 10.1093/hmg/ddv511
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- Article
The apical ectodermal ridge of the mouse model of ectrodactyly Dlx5;Dlx6<sup>-/-</sup> shows altered stratification and cell polarity, which are restored by exogenous Wnt5a ligand.
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- Human Molecular Genetics, 2016, v. 25, n. 4, p. 740, doi. 10.1093/hmg/ddv514
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- Article
Candidate genetic modifiers of retinitis pigmentosa identified by exploiting natural variation in Drosophila.
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- Human Molecular Genetics, 2016, v. 25, n. 4, p. 651, doi. 10.1093/hmg/ddv502
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- Article
Lysosomal dysfunction and impaired autophagy in a novel mouse model deficient for the lysosomal membrane protein Cln7.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 4, p. 777, doi. 10.1093/hmg/ddv615
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- Article
Reduced cholesterol levels impair Smoothened activation in Smith-Lemli-Opitz syndrome.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 4, p. 693, doi. 10.1093/hmg/ddv507
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- Article
FIG4 regulates lysosome membrane homeostasis independent of phosphatase function.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 4, p. 681, doi. 10.1093/hmg/ddv505
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- Article
Whole chromosome aneuploidy in the brain of Bub1b<sup>H/H</sup> and Ercc1<sup>-/Δ7</sup> mice.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 4, p. 755, doi. 10.1093/hmg/ddv612
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- Article