Works matching IS 09646906 AND DT 2016 AND VI 25 AND IP 18
Results: 19
A genome-wide association meta-analysis of diarrhoeal disease in young children identifies FUT2 locus and provides plausible biological pathways.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 18, p. 4127, doi. 10.1093/hmg/ddw264
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- Article
Coding-sequence variants are associated with blood lipid levels in 14,473 Chinese.
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- Human Molecular Genetics, 2016, v. 25, n. 18, p. 4107, doi. 10.1093/hmg/ddw261
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- Article
Enhancing survival motor neuron expression extends lifespan and attenuates neurodegeneration in mutant TDP-43 mice.
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- Human Molecular Genetics, 2016, v. 25, n. 18, p. 4080, doi. 10.1093/hmg/ddw247
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- Article
Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6.
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- Human Molecular Genetics, 2016, v. 25, n. 18, p. 4062, doi. 10.1093/hmg/ddw245
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- Article
Altered thalamocortical development in the SAP102 knockout model of intellectual disability.
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- Human Molecular Genetics, 2016, v. 25, n. 18, p. 4052, doi. 10.1093/hmg/ddw244
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- Article
Converging disease genes in ICF syndrome: ZBTB24 controls expression of CDCA7 in mammals.
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- Human Molecular Genetics, 2016, v. 25, n. 18, p. 4041, doi. 10.1093/hmg/ddw243
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- Article
Ataxin-1 regulates the cerebellar bioenergetics proteome through the GSK3b-mTOR pathway which is altered in Spinocerebellar ataxia type 1 (SCA1).
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- Human Molecular Genetics, 2016, v. 25, n. 18, p. 4021, doi. 10.1093/hmg/ddw242
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- Article
IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome.
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- Human Molecular Genetics, 2016, v. 25, n. 18, p. 4012, doi. 10.1093/hmg/ddw241
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- Publication type:
- Article
An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome.
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- Human Molecular Genetics, 2016, v. 25, n. 18, p. 3998, doi. 10.1093/hmg/ddw240
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- Article
Partial loss of CALM function reduces Aβ42 production and amyloid deposition in vivo.
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- Human Molecular Genetics, 2016, v. 25, n. 18, p. 3988, doi. 10.1093/hmg/ddw239
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- Article
Pridopidine activates neuroprotective pathways impaired in Huntington Disease.
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- Human Molecular Genetics, 2016, v. 25, n. 18, p. 3975, doi. 10.1093/hmg/ddw238
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- Publication type:
- Article
Selective release of muscle-specific, extracellular microRNAs during myogenic differentiation.
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- Human Molecular Genetics, 2016, v. 25, n. 18, p. 3960, doi. 10.1093/hmg/ddw237
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- Article
A blood pressure-associated variant of the SLC39A8 gene influences cellular cadmium accumulation and toxicity.
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- Human Molecular Genetics, 2016, v. 25, n. 18, p. 4117, doi. 10.1093/hmg/ddw236
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- Article
Zic2 mutation causes holoprosencephaly via disruption of NODAL signalling.
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- Human Molecular Genetics, 2016, v. 25, n. 18, p. 3946, doi. 10.1093/hmg/ddw235
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- Article
Huntingtin N17 domain is a reactive oxygen species sensor regulating huntingtin phosphorylation and localization.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 18, p. 3937, doi. 10.1093/hmg/ddw234
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- Article
SOX10 regulates an alternative promoter at the Charcot-Marie-Tooth disease locus MTMR2.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 18, p. 3925, doi. 10.1093/hmg/ddw233
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- Article
The chaperone HSPB8 reduces the accumulation of truncated TDP-43 species in cells and protects against TDP-43-mediated toxicity.
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- Human Molecular Genetics, 2016, v. 25, n. 18, p. 3908, doi. 10.1093/hmg/ddw232
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- Article
HDAC4: a key factor underlying brain developmental alterations in CDKL5 disorder.
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- Human Molecular Genetics, 2016, v. 25, n. 18, p. 3887, doi. 10.1093/hmg/ddw231
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- Article
Analysis with the exome array identifies multiple new independent variants in lipid loci.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 18, p. 4094, doi. 10.1093/hmg/ddw227
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- Article