Works matching IS 09646906 AND DT 2015 AND VI 24 AND IP 17
Results: 22
Serum proteomic profiling reveals fragments of MYOM3 as potential biomarkers for monitoring the outcome of therapeutic interventions in muscular dystrophies.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 17, p. 4916, doi. 10.1093/hmg/ddv214
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- Article
Male meiotic cytokinesis requires ceramide synthase 3-dependent sphingolipids with unique membrane anchors.
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- Human Molecular Genetics, 2015, v. 24, n. 17, p. 4792, doi. 10.1093/hmg/ddv204
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- Article
Fingolimod (FTY720) enhances hippocampal synaptic plasticity and memory in Huntington’s disease by preventing p75<sup>NTR</sup> up-regulation and astrocyte-mediated inflammation.
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- Human Molecular Genetics, 2015, v. 24, n. 17, p. 4958, doi. 10.1093/hmg/ddv218
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- Article
The Warsaw breakage syndrome-related protein DDX11 is required for ribosomal RNA synthesis and embryonic development.
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- Human Molecular Genetics, 2015, v. 24, n. 17, p. 4901, doi. 10.1093/hmg/ddv213
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- Article
Reversibility of neuropathology and motor deficits in an inducible mouse model for FXTAS.
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- Human Molecular Genetics, 2015, v. 24, n. 17, p. 4948, doi. 10.1093/hmg/ddv216
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- Article
Inhibiting cytosolic translation and autophagy improves health in mitochondrial disease.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 17, p. 4829, doi. 10.1093/hmg/ddv207
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- Article
ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons.
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- Human Molecular Genetics, 2015, v. 24, n. 17, p. 4848, doi. 10.1093/hmg/ddv208
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- Article
Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.
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- Human Molecular Genetics, 2015, v. 24, n. 17, p. 4775, doi. 10.1093/hmg/ddv182
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- Article
DICER/AGO-dependent epigenetic silencing of D4Z4 repeats enhanced by exogenous siRNA suggests mechanisms and therapies for FSHD.
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- Human Molecular Genetics, 2015, v. 24, n. 17, p. 4817, doi. 10.1093/hmg/ddv206
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- Article
The role of primary cilia in corpus callosum formation is mediated by production of the Gli3 repressor.
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- Human Molecular Genetics, 2015, v. 24, n. 17, p. 4997, doi. 10.1093/hmg/ddv221
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- Article
I2020T mutant LRRK2 iPSC-derived neurons in the Sagamihara family exhibit increased Tau phosphorylation through the AKT/GSK-3β signaling pathway.
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- Human Molecular Genetics, 2015, v. 24, n. 17, p. 4879, doi. 10.1093/hmg/ddv212
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- Article
Mitochondrial energetic defects in muscle and brain of a Hmbs<sup>-/-</sup> mouse model of acute intermittent porphyria.
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- Human Molecular Genetics, 2015, v. 24, n. 17, p. 5015, doi. 10.1093/hmg/ddv222
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- Article
Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease.
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- Human Molecular Genetics, 2015, v. 24, n. 17, p. 4984, doi. 10.1093/hmg/ddv220
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- Article
Oxidative metabolism in YAC128 mouse model of Huntington's disease.
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- Human Molecular Genetics, 2015, v. 24, n. 17, p. 4862, doi. 10.1093/hmg/ddv209
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- Article
Decreased glycogen synthase kinase-3 levels and activity contribute to Huntington's disease.
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- Human Molecular Genetics, 2015, v. 24, n. 17, p. 5040, doi. 10.1093/hmg/ddv224
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- Article
Therapeutic impact of systemic AAV-mediated RNA interference in a mouse model of myotonic dystrophy.
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- Human Molecular Genetics, 2015, v. 24, n. 17, p. 4971, doi. 10.1093/hmg/ddv219
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- Article
A trans-ethnic genome-wide association study identifies gender-specific loci influencing pediatric aBMD and BMC at the distal radius.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 17, p. 5053, doi. 10.1093/hmg/ddv210
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- Publication type:
- Article
Subnuclear re-localization of SOX10 and p54NRB correlates with a unique neurological phenotype associated with SOX10 missense mutations.
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- Human Molecular Genetics, 2015, v. 24, n. 17, p. 4933, doi. 10.1093/hmg/ddv215
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- Article
Lhx6 and Lhx8 promote palate development through negative regulation of a cell cycle inhibitor gene, p57<sup>Kip2</sup>.
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- Human Molecular Genetics, 2015, v. 24, n. 17, p. 5024, doi. 10.1093/hmg/ddv223
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- Article
Regulation of a strong F9 cryptic 5'ss by intrinsic elements and by combination of tailored U1snRNAs with antisense oligonucleotides.
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- Human Molecular Genetics, 2015, v. 24, n. 17, p. 4809, doi. 10.1093/hmg/ddv205
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- Article
WNT10A exonic variant increases the risk of keratoconus by decreasing corneal thickness.
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- Human Molecular Genetics, 2015, v. 24, n. 17, p. 5060, doi. 10.1093/hmg/ddv211
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- Article
Loss of MyD88 alters neuroinflammatory response and attenuates early Purkinje cell loss in a spinocerebellar ataxia type 6 mouse model.
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- Human Molecular Genetics, 2015, v. 24, n. 17, p. 4780, doi. 10.1093/hmg/ddv202
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- Article