Works matching IS 09646906 AND DT 2017 AND VI 26 AND IP 10
Results: 14
Open chromatin profiling of human postmortem brain infers functional roles for non-coding schizophrenia loci.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 10, p. 1942, doi. 10.1093/hmg/ddx103
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- Article
Efficient CNV breakpoint analysis reveals unexpected structural complexity and correlation of dosage-sensitive genes with clinical severity in genomic disorders.
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- Human Molecular Genetics, 2017, v. 26, n. 10, p. 1927, doi. 10.1093/hmg/ddx102
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- Article
Sirt3 protects dopaminergic neurons from mitochondrial oxidative stress.
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- Human Molecular Genetics, 2017, v. 26, n. 10, p. 1915, doi. 10.1093/hmg/ddx100
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- Article
Mutations in XLF/NHEJ1/Cernunnos gene results in downregulation of telomerase genes expression and telomere shortening.
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- Human Molecular Genetics, 2017, v. 26, n. 10, p. 1900, doi. 10.1093/hmg/ddx098
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- Article
Downregulation of pathways implicated in liver inflammation and tumorigenesis of glycogen storage disease type Ia mice receiving gene therapy.
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- Human Molecular Genetics, 2017, v. 26, n. 10, p. 1890, doi. 10.1093/hmg/ddx097
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- Article
A critical role of Hrd1 in the regulation of optineurin degradation and aggresome formation.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 10, p. 1877, doi. 10.1093/hmg/ddx096
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- Article
Amelogenesis imperfecta caused by N-terminal enamelin point mutations in mice and men is driven by endoplasmic reticulum stress.
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- Human Molecular Genetics, 2017, v. 26, n. 10, p. 1863, doi. 10.1093/hmg/ddx090
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- Article
Genetic absence of ALOX5 protects from homocysteineinduced memory impairment, tau phosphorylation and synaptic pathology.
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- Human Molecular Genetics, 2017, v. 26, n. 10, p. 1855, doi. 10.1093/hmg/ddx088
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- Publication type:
- Article
Muscle-specific expression of the RNA-binding protein Staufen1 induces progressive skeletal muscle atrophy via regulation of phosphatase tensin homolog.
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- Human Molecular Genetics, 2017, v. 26, n. 10, p. 1821, doi. 10.1093/hmg/ddx085
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- Article
Testing the Ret and Sema3d genetic interaction in mouse enteric nervous system development.
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- Human Molecular Genetics, 2017, v. 26, n. 10, p. 1811, doi. 10.1093/hmg/ddx084
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- Article
PDGFRB gain-of-function mutations in sporadic infantile myofibromatosis.
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- Human Molecular Genetics, 2017, v. 26, n. 10, p. 1801, doi. 10.1093/hmg/ddx081
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- Article
PNPLA1 defects in patients with autosomal recessive congenital ichthyosis and KO mice sustain PNPLA1 irreplaceable function in epidermal omega-Oacylceramide synthesis and skin permeability barrier.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 10, p. 1787, doi. 10.1093/hmg/ddx079
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- Article
AAV-mediated transfer of FKRP shows therapeutic efficacy in a murine model but requires control of gene expression.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 10, p. 1952, doi. 10.1093/hmg/ddx066
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- Publication type:
- Article
Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation?
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 10, p. 1966, doi. 10.1093/hmg/ddx082
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- Article