Works matching IS 09646906 AND DT 2017 AND VI 26 AND IP 5
Results: 14
SMN deficiency negatively impacts red pulp macrophages and spleen development in mouse models of spinal muscular atrophy.
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- Human Molecular Genetics, 2017, v. 26, n. 5, p. 932, doi. 10.1093/hmg/ddx008
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- Article
Increased NBCn1 expression, Na<sup>+</sup>/HCO<sub>3</sub><sup>-</sup> co-transport and intracellular pH in human vascular smooth muscle cells with a risk allele for hypertension.
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- Human Molecular Genetics, 2017, v. 26, n. 5, p. 989, doi. 10.1093/hmg/ddx015
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- Article
Progranulin regulates lysosomal function and biogenesis through acidification of lysosomes.
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- Human Molecular Genetics, 2017, v. 26, n. 5, p. 969, doi. 10.1093/hmg/ddx011
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- Article
Mutations of PQBP1 in Renpenning syndrome promote ubiquitin-mediated degradation of FMRP and cause synaptic dysfunction.
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- Human Molecular Genetics, 2017, v. 26, n. 5, p. 955, doi. 10.1093/hmg/ddx010
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- Article
KLF13 is a genetic modifier of the Holt-Oram syndrome gene TBX5.
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- Human Molecular Genetics, 2017, v. 26, n. 5, p. 942, doi. 10.1093/hmg/ddx009
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- Article
Brain ventriculomegaly in Down syndrome mice is caused by Pcp4 dose-dependent cilia dysfunction.
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- Human Molecular Genetics, 2017, v. 26, n. 5, p. 923, doi. 10.1093/hmg/ddx007
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- Article
High resolution time-course mapping of early transcriptomic, molecular and cellular phenotypes in Huntington's disease CAG knock-in mice across multiple genetic backgrounds.
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- Human Molecular Genetics, 2017, v. 26, n. 5, p. 913, doi. 10.1093/hmg/ddx006
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- Article
The Y-located proto-oncogene TSPY exacerbates and its X-homologue TSPX inhibits transactivation functions of androgen receptor and its constitutively active variants.
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- Human Molecular Genetics, 2017, v. 26, n. 5, p. 901, doi. 10.1093/hmg/ddx005
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- Article
High dietary folate in pregnant mice leads to pseudo-MTHFR deficiency and altered methyl metabolism, with embryonic growth delay and short-term memory impairment in offspring.
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- Human Molecular Genetics, 2017, v. 26, n. 5, p. 888, doi. 10.1093/hmg/ddx004
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- Article
Early microgliosis precedes neuronal loss and behavioural impairment in mice with a frontotemporal dementia-causing CHMP2B mutation.
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- Human Molecular Genetics, 2017, v. 26, n. 5, p. 873, doi. 10.1093/hmg/ddx003
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- Article
Intraflagellar transport 88 (IFT88) is crucial for craniofacial development in mice and is a candidate gene for human cleft lip and palate.
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- Human Molecular Genetics, 2017, v. 26, n. 5, p. 860, doi. 10.1093/hmg/ddx002
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- Article
Cyclodextrin has conflicting actions on autophagy flux in vivo in brains of normal and Alzheimer model mice.
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- Human Molecular Genetics, 2017, v. 26, n. 5, p. 843, doi. 10.1093/hmg/ddx001
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- Article
Quantifying the extent to which index event biases influence large genetic association studies.
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- Human Molecular Genetics, 2017, v. 26, n. 5, p. 1018, doi. 10.1093/hmg/ddw433
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- Article
Mapping eQTLs with RNA-seq reveals novel susceptibility genes, non-coding RNAs and alternative-splicing events in systemic lupus erythematosus.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 5, p. 1003, doi. 10.1093/hmg/ddw417
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- Article