Works matching IS 09646906 AND DT 2016 AND VI 25 AND IP 1
Results: 18
Folliculin, a tumor suppressor associated with Birt-Hogg-Dubé (BHD) syndrome, is a novel modifier of TDP-43 cytoplasmic translocation and aggregation.
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- Human Molecular Genetics, 2016, v. 25, n. 1, p. 83, doi. 10.1093/hmg/ddv450
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Early transcriptional profiles in huntingtin-inducible striatal cells by microarray analyses.
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- Human Molecular Genetics, 2016, v. 25, n. 1, p. 210, doi. 10.1093/hmg/ddv416
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- Article
Prenatal and early life influences on epigenetic age in children: a study of mother--offspring pairs from two cohort studies.
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- Human Molecular Genetics, 2016, v. 25, n. 1, p. 191, doi. 10.1093/hmg/ddv456
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- Article
Sarcolemmal targeting of nNOSμ improves contractile function of mdx muscle.
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- Human Molecular Genetics, 2016, v. 25, n. 1, p. 158, doi. 10.1093/hmg/ddv466
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Combinatorial therapeutic activation with heparin and AICAR stimulates additive effects on utrophin A expression in dystrophic muscles.
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- Human Molecular Genetics, 2016, v. 25, n. 1, p. 24, doi. 10.1093/hmg/ddv444
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Whole-genome bisulfite sequencing maps from multiple human tissues reveal novel CpG islands associated with tissue-specific regulation.
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- Human Molecular Genetics, 2016, v. 25, n. 1, p. 69, doi. 10.1093/hmg/ddv449
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Differential effects on β-cell mass by disruption of Bardet--Biedl syndrome or Alstrom syndrome genes.
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- Human Molecular Genetics, 2016, v. 25, n. 1, p. 57, doi. 10.1093/hmg/ddv447
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- Article
14-3-3 Proteins regulate mutant LRRK2 kinase activity and neurite shortening.
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- Human Molecular Genetics, 2016, v. 25, n. 1, p. 109, doi. 10.1093/hmg/ddv453
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A polygenic burden of rare variants across extracellular matrix genes among individuals with adolescent idiopathic scoliosis.
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- Human Molecular Genetics, 2016, v. 25, n. 1, p. 202, doi. 10.1093/hmg/ddv463
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Functional implications of disease-specific variants in loci jointly associated with coeliac disease and rheumatoid arthritis.
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- Human Molecular Genetics, 2016, v. 25, n. 1, p. 180, doi. 10.1093/hmg/ddv455
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Multikinase activity of fibroblast growth factor receptor (FGFR) inhibitors SU5402, PD173074, AZD1480, AZD4547 and BGJ398 compromises the use of small chemicals targeting FGFR catalytic activity for therapy of short-stature syndromes.
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- Human Molecular Genetics, 2016, v. 25, n. 1, p. 9, doi. 10.1093/hmg/ddv441
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Outlier DNA methylation levels as an indicator of environmental exposure and risk of undesirable birth outcome.
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- Human Molecular Genetics, 2016, v. 25, n. 1, p. 123, doi. 10.1093/hmg/ddv458
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- Article
Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis.
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- Human Molecular Genetics, 2016, v. 25, n. 1, p. 44, doi. 10.1093/hmg/ddv446
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- Article
Altered microtubule dynamics and vesicular transport in mouse and human MeCP2-deficient astrocytes.
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- Human Molecular Genetics, 2016, v. 25, n. 1, p. 146, doi. 10.1093/hmg/ddv464
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- Article
Effect of genetic background on the dystrophic phenotype in mdx mice.
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- Human Molecular Genetics, 2016, v. 25, n. 1, p. 130, doi. 10.1093/hmg/ddv460
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Common variants in DRD2 are associated with sleep duration: the CARe consortium.
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- Human Molecular Genetics, 2016, v. 25, n. 1, p. 167, doi. 10.1093/hmg/ddv434
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- Article
An essential role for UBE2A/HR6A in learning and memory and mGLUR-dependent long-term depression.
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- Human Molecular Genetics, 2016, v. 25, n. 1, p. 1, doi. 10.1093/hmg/ddv436
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- Article
Dlx5 and Dlx6 control uterine adenogenesis during post-natal maturation: possible consequences for endometriosis.
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- Human Molecular Genetics, 2016, v. 25, n. 1, p. 97, doi. 10.1093/hmg/ddv452
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- Article