Found: 19
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Cell identity bookmarking through heterogeneous chromatin landscape maintenance during the cell cycle.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 21, p. 4231, doi. 10.1093/hmg/ddx312
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- Publication type:
- Article
Exome-wide association study reveals novel psoriasis susceptibility locus at TNFSF15 and rare protective alleles in genes contributing to type I IFN signalling.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 21, p. 4301, doi. 10.1093/hmg/ddx328
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- Publication type:
- Article
Treacher Collins syndrome mutations in Saccharomyces cerevisiae destabilize RNA polymerase I and III complex integrity.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 21, p. 4290, doi. 10.1093/hmg/ddx317
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- Publication type:
- Article
Identification of a novel synaptic protein, TMTC3, involved in periventricular nodular heterotopia with intellectual disability and epilepsy.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 21, p. 4278, doi. 10.1093/hmg/ddx316
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- Publication type:
- Article
IKKβ and mutant huntingtin interactions regulate the expression of IL-34: implications for microglialmediated neurodegeneration in HD.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 21, p. 4267, doi. 10.1093/hmg/ddx315
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- Publication type:
- Article
Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 21, p. 4257, doi. 10.1093/hmg/ddx314
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- Publication type:
- Article
Non-random length distribution of individual telomeres in immunodeficiency, centromeric instability and facial anomalies syndrome, type I.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 21, p. 4244, doi. 10.1093/hmg/ddx313
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- Publication type:
- Article
The Prader-Willi syndrome proteins MAGEL2 and necdin regulate leptin receptor cell surface abundance through ubiquitination pathways.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 21, p. 4215, doi. 10.1093/hmg/ddx311
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- Publication type:
- Article
Abnormal creatine transport of mutations in monocarboxylate transporter 12 (MCT12) found in patients with age-related cataract can be partially rescued by exogenous chaperone CD147.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 21, p. 4203, doi. 10.1093/hmg/ddx310
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- Publication type:
- Article
Liver cyst gene knockout in cholangiocytes inhibits cilium formation and Wnt signaling.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 21, p. 4190, doi. 10.1093/hmg/ddx308
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- Publication type:
- Article
DARS2 protects against neuroinflammation and apoptotic neuronal loss, but is dispensable for myelin producing cells.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 21, p. 4181, doi. 10.1093/hmg/ddx307
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- Publication type:
- Article
Zebrafish cdc6 hypomorphic mutation causes Meier-Gorlin syndrome-like phenotype.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 21, p. 4168, doi. 10.1093/hmg/ddx305
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- Publication type:
- Article
Homeostatic plasticity can be induced and expressed to restore synaptic strength at neuromuscular junctions undergoing ALS-related degeneration.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 21, p. 4153, doi. 10.1093/hmg/ddx304
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- Publication type:
- Article
Retracted: Elevated NADPH oxidase activity contributes to oxidative stress and cell death in Huntington's disease.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 21, p. 4314, doi. 10.1093/hmg/ddx303
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- Publication type:
- Article
Dysregulation of chromatin remodelling complexes in amyotrophic lateral sclerosis.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 21, p. 4142, doi. 10.1093/hmg/ddx301
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- Publication type:
- Article
MeCP2_E1 N-terminal modifications affect its degradation rate and are disrupted by the Ala2Val Rett mutation.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 21, p. 4132, doi. 10.1093/hmg/ddx300
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- Publication type:
- Article
Inhibition of mitochondrial fragmentation protects against Alzheimer's disease in rodent model.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 21, p. 4118, doi. 10.1093/hmg/ddx299
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- Publication type:
- Article
The NAD<sup>+</sup>-dependent deacetylase SIRT2 attenuates oxidative stress and mitochondrial dysfunction and improves insulin sensitivity in hepatocytes.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 21, p. 4105, doi. 10.1093/hmg/ddx298
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- Publication type:
- Article
Loss of ADAMTS3 activity causes Hennekam lymphangiectasia--lymphedema syndrome 3.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 21, p. 4095, doi. 10.1093/hmg/ddx297
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- Publication type:
- Article