Works matching IS 09646906 AND DT 2015 AND VI 24 AND IP 11
Results: 25
HD iPSC-derived neural progenitors accumulate in culture and are susceptible to BDNF withdrawal due to glutamate toxicity.
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- Human Molecular Genetics, 2015, v. 24, n. 11, p. 3257, doi. 10.1093/hmg/ddv080
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Mask loss-of-function rescues mitochondrial impairment and muscle degeneration of Drosophila pink1 and parkin mutants.
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- Human Molecular Genetics, 2015, v. 24, n. 11, p. 3272, doi. 10.1093/hmg/ddv081
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Additive effect of nuclear and mitochondrial mutations in a patient with mitochondrial encephalomyopathy.
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- Human Molecular Genetics, 2015, v. 24, n. 11, p. 3248, doi. 10.1093/hmg/ddv078
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IRF4, MC1R and TYR genes are risk factors for actinic keratosis independent of skin color.
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- Human Molecular Genetics, 2015, v. 24, n. 11, p. 3296, doi. 10.1093/hmg/ddv076
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Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency.
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- Human Molecular Genetics, 2015, v. 24, n. 11, p. 3238, doi. 10.1093/hmg/ddv074
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Protein misfolding and the pathogenesis of ABCA4-associated retinal degenerations.
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- Human Molecular Genetics, 2015, v. 24, n. 11, p. 3220, doi. 10.1093/hmg/ddv073
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A genetic dissection of intestinal fat-soluble vitamin and carotenoid absorption.
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- Human Molecular Genetics, 2015, v. 24, n. 11, p. 3206, doi. 10.1093/hmg/ddv072
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A robust type I interferon gene signature from blood RNA defines quantitative but not qualitative differences between three major IFNβ drugs in the treatment of multiple sclerosis.
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- Human Molecular Genetics, 2015, v. 24, n. 11, p. 3192, doi. 10.1093/hmg/ddv071
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Blocking hyperactive androgen receptor signaling ameliorates cardiac and renal hypertrophy in Fabry mice.
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- Human Molecular Genetics, 2015, v. 24, n. 11, p. 3181, doi. 10.1093/hmg/ddv070
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Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment.
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- Human Molecular Genetics, 2015, v. 24, n. 11, p. 3172, doi. 10.1093/hmg/ddv069
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Targeted sequencing of the Paget's disease associated 14q32 locus identifies several missense coding variants in RIN3 that predispose to Paget's disease of bone.
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- Human Molecular Genetics, 2015, v. 24, n. 11, p. 3286, doi. 10.1093/hmg/ddv068
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Loss of the scavenger mRNA decapping enzyme DCPS causes syndromic intellectual disability with neuromuscular defects.
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- Human Molecular Genetics, 2015, v. 24, n. 11, p. 3163, doi. 10.1093/hmg/ddv067
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- Article
Mutation in exon 1a of PLEC, leading to disruption of plectin isoform 1a, causes autosomal-recessive skin-only epidermolysis bullosa simplex.
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- Human Molecular Genetics, 2015, v. 24, n. 11, p. 3155, doi. 10.1093/hmg/ddv066
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- Article
A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD).
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- Human Molecular Genetics, 2015, v. 24, n. 11, p. 3143, doi. 10.1093/hmg/ddv065
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Extensive size variability of the GGGGCC expansion in C9orf72 in both neuronal and non-neuronal tissues in 18 patients with ALS or FTD.
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- Human Molecular Genetics, 2015, v. 24, n. 11, p. 3133, doi. 10.1093/hmg/ddv064
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Molecular mechanism of CHRDL1-mediated X-linked megalocornea in humans and in Xenopus model.
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- Human Molecular Genetics, 2015, v. 24, n. 11, p. 3119, doi. 10.1093/hmg/ddv063
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Gene therapy into photoreceptors and Müller glial cells restores retinal structure and function in CRB1 retinitis pigmentosa mouse models.
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- Human Molecular Genetics, 2015, v. 24, n. 11, p. 3104, doi. 10.1093/hmg/ddv062
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Role of Foxl2 in uterine maturation and function.
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- Human Molecular Genetics, 2015, v. 24, n. 11, p. 3092, doi. 10.1093/hmg/ddv061
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Galanin pathogenic mutations in temporal lobe epilepsy.
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- Human Molecular Genetics, 2015, v. 24, n. 11, p. 3082, doi. 10.1093/hmg/ddv060
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NH<sub>2</sub>-truncated human tau induces deregulated mitophagy in neurons by aberrant recruitment of Parkin and UCHL-1: implications in Alzheimer's disease.
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- Human Molecular Genetics, 2015, v. 24, n. 11, p. 3058, doi. 10.1093/hmg/ddv059
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Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors.
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- Human Molecular Genetics, 2015, v. 24, n. 11, p. 3050, doi. 10.1093/hmg/ddv057
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Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.
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- Human Molecular Genetics, 2015, v. 24, n. 11, p. 3038, doi. 10.1093/hmg/ddv053
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Functional variant analyses (FVAs) predict pathogenicity in the BRCA1 DNA double-strand break repair pathway.
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- Human Molecular Genetics, 2015, v. 24, n. 11, p. 3030, doi. 10.1093/hmg/ddv048
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Maternal gestational diabetes is associated with genome-wide DNA methylation variation in placenta and cord blood of exposed offspring.
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- Human Molecular Genetics, 2015, v. 24, n. 11, p. 3021, doi. 10.1093/hmg/ddv013
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A disease module in the interactome explains disease heterogeneity, drug response and captures novel pathways and genes in asthma.
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- Human Molecular Genetics, 2015, v. 24, n. 11, p. 3005, doi. 10.1093/hmg/ddv001
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- Article