Identification of new molecular alterations in fatal familial insomnia.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 12, p. 2417, doi. 10.1093/hmg/ddw108
- By:
- Publication type:
- Article
Works matching IS 09646906 AND DT 2016 AND VI 25 AND IP 12
Results: 19
1
2
Inhibition of death-associated protein kinase 1 attenuates the phosphorylation and amyloidogenic processing of amyloid precursor protein.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 12, p. 2498, doi. 10.1093/hmg/ddw114
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- Publication type:
- Article
3
Early hypermethylation of hepatic Igfbp2 results in its reduced expression preceding fatty liver in mice.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 12, p. 2588, doi. 10.1093/hmg/ddw121
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- Publication type:
- Article
4
Neuron-specific knock-down of SMN1 causes neuron degeneration and death through an apoptotic mechanism.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 12, p. 2564, doi. 10.1093/hmg/ddw119
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- Publication type:
- Article
5
Mutations and altered expression of SERPINF1 in patients with familial otosclerosis.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 12, p. 2393, doi. 10.1093/hmg/ddw106
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- Publication type:
- Article
6
Klotho gene silencing promotes pathology in the mdx mouse model of Duchennemuscular dystrophy.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 12, p. 2465, doi. 10.1093/hmg/ddw111
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- Publication type:
- Article
7
Increased steroidogenesis promotes early-onset and severe vision loss in females with OPA1 dominant optic atrophy.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 12, p. 2539, doi. 10.1093/hmg/ddw117
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- Publication type:
- Article
8
The heritability and patterns of DNA methylation in normal human colorectum.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 12, p. 2600, doi. 10.1093/hmg/ddw072
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- Publication type:
- Article
9
LSD1/KDM1A mutations associated to a newly described form of intellectual disability impair demethylase activity and binding to transcription factors.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 12, p. 2578, doi. 10.1093/hmg/ddw120
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- Publication type:
- Article
10
Systematic reanalysis of partial trisomy 21 cases with or without Down syndrome suggests a small region on 21q22.13 as critical to the phenotype.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 12, p. 2525, doi. 10.1093/hmg/ddw116
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- Publication type:
- Article
11
Peripherin-2 differentially interacts with cone opsins in outer segments of cone photoreceptors.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 12, p. 2367, doi. 10.1093/hmg/ddw103
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- Publication type:
- Article
12
Disrupted mitochondrial function in the Opa3<sup>L122P</sup> mouse model for Costeff Syndrome impairs skeletal integrity.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 12, p. 2404, doi. 10.1093/hmg/ddw107
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- Publication type:
- Article
13
Axonal transport defects are a common phenotype in Drosophila models of ALS.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 12, p. 2378, doi. 10.1093/hmg/ddw105
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- Publication type:
- Article
14
Allele-specific regulation of mutant Huntingtin by Wig1, a downstream target of p53.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 12, p. 2514, doi. 10.1093/hmg/ddw115
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- Publication type:
- Article
15
In vitro and in vivo rescue of aberrant splicing in CEP290-associated LCA by antisense oligonucleotide delivery.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 12, p. 2552, doi. 10.1093/hmg/ddw118
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- Publication type:
- Article
16
GWAS meta-analysis of 16 852 women identifies new susceptibility locus for endometrial cancer.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 12, p. 2612, doi. 10.1093/hmg/ddw092
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- Publication type:
- Article
17
Amissense mutation in ASRGL1 is involved in causing autosomal recessive retinal degeneration.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 12, p. 2483, doi. 10.1093/hmg/ddw113
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- Publication type:
- Article
18
ELAVL2-regulated transcriptional and splicing networks in human neurons link neurodevelopment and autism.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 12, p. 2451, doi. 10.1093/hmg/ddw110
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- Publication type:
- Article
19
5-Hydroxymethylation-associated epigenetic modifiers of Alzheimer's disease modulate Tau-induced neurotoxicity.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 12, p. 2437, doi. 10.1093/hmg/ddw109
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- Publication type:
- Article