Works matching IS 09646906 AND DT 2015 AND VI 24 AND IP 12
Results: 24
FGFR2 regulates Mre11 expression and double-strand break repair via the MEK-ERK-POU1F1 pathway in breast tumorigenesis.
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- Human Molecular Genetics, 2015, v. 24, n. 12, p. 3506, doi. 10.1093/hmg/ddv102
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- Article
Lack of exacerbation of neurodegeneration in a double transgenic mouse model of mutant LRRK2 and tau.
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- Human Molecular Genetics, 2015, v. 24, n. 12, p. 3545, doi. 10.1093/hmg/ddv105
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- Article
Contribution of common non-synonymous variants in PCSK1 to body mass index variation and risk of obesity: a systematic review and meta-analysis with evidence from up to 331 175 individuals.
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- Human Molecular Genetics, 2015, v. 24, n. 12, p. 3582, doi. 10.1093/hmg/ddv097
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- Article
Oxr1 improves pathogenic cellular features of ALS-associated FUS and TDP-43 mutations.
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- Human Molecular Genetics, 2015, v. 24, n. 12, p. 3529, doi. 10.1093/hmg/ddv104
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- Article
Analyses of disease-related GNPTAB mutations define a novel GlcNAc-1-phosphotransferase interaction domain and an alternative site-1 protease cleavage site.
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- Human Molecular Genetics, 2015, v. 24, n. 12, p. 3497, doi. 10.1093/hmg/ddv100
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- Article
Neuronal identity genes regulated by super-enhancers are preferentially down-regulated in the striatum of Huntington's disease mice.
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- Human Molecular Genetics, 2015, v. 24, n. 12, p. 3481, doi. 10.1093/hmg/ddv099
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- Article
Obesity, starch digestion and amylase: association between copy number variants at human salivary (AMY1) and pancreatic (AMY2) amylase genes.
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- Human Molecular Genetics, 2015, v. 24, n. 12, p. 3472, doi. 10.1093/hmg/ddv098
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- Article
Elucidating the impact of neurofibromatosis-1 germline mutations on neurofibromin function and dopamine-based learning.
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- Human Molecular Genetics, 2015, v. 24, n. 12, p. 3518, doi. 10.1093/hmg/ddv103
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- Article
Expanded GAA repeats impair FXN gene expression and reposition the FXN locus to the nuclear lamina in single cells.
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- Human Molecular Genetics, 2015, v. 24, n. 12, p. 3457, doi. 10.1093/hmg/ddv096
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- Article
IFN-α production by plasmacytoid dendritic cell associations with polymorphisms in gene loci related to autoimmune and inflammatory diseases.
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- Human Molecular Genetics, 2015, v. 24, n. 12, p. 3571, doi. 10.1093/hmg/ddv095
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- Article
A mutation in FRIZZLED2 impairs Wnt signaling and causes autosomal dominant omodysplasia.
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- Human Molecular Genetics, 2015, v. 24, n. 12, p. 3399, doi. 10.1093/hmg/ddv088
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- Article
A cysteine residue affects the conformational state and neuronal toxicity of mutant SOD1 in mice: relevance to the pathogenesis of ALS.
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- Human Molecular Genetics, 2015, v. 24, n. 12, p. 3427, doi. 10.1093/hmg/ddv093
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- Article
Combined gene/cell therapies provide long-term and pervasive rescue of multiple pathological symptoms in a murine model of globoid cell leukodystrophy.
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- Human Molecular Genetics, 2015, v. 24, n. 12, p. 3372, doi. 10.1093/hmg/ddv086
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- Article
A 3'-UTR mutation creates a microRNA target site in the GFPT1 gene of patients with congenital myasthenic syndrome.
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- Human Molecular Genetics, 2015, v. 24, n. 12, p. 3418, doi. 10.1093/hmg/ddv090
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- Article
Genome-wide profiling of polyadenylation sites reveals a link between selective polyadenylation and cancer metastasis.
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- Human Molecular Genetics, 2015, v. 24, n. 12, p. 3410, doi. 10.1093/hmg/ddv089
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- Article
Tweak regulates astrogliosis, microgliosis and skeletal muscle atrophy in a mouse model of amyotrophic lateral sclerosis.
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- Human Molecular Genetics, 2015, v. 24, n. 12, p. 3440, doi. 10.1093/hmg/ddv094
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- Article
Intact neuronal function in Rheb1 mutant mice: implications for TORC1-based treatments.
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- Human Molecular Genetics, 2015, v. 24, n. 12, p. 3390, doi. 10.1093/hmg/ddv087
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- Article
Genetics of CD33 in Alzheimer's disease and acute myeloid leukemia.
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- Human Molecular Genetics, 2015, v. 24, n. 12, p. 3557, doi. 10.1093/hmg/ddv092
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- Article
Interactome analysis reveals that FAM161A, deficient in recessive retinitis pigmentosa, is a component of the Golgi-centrosomal network.
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- Human Molecular Genetics, 2015, v. 24, n. 12, p. 3359, doi. 10.1093/hmg/ddv085
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- Article
The embryonic myosin R672C mutation that underlies Freeman-Sheldon syndrome impairs cross-bridge detachment and cycling in adult skeletal muscle.
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- Human Molecular Genetics, 2015, v. 24, n. 12, p. 3348, doi. 10.1093/hmg/ddv084
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- Article
Mutated myocilin and heterozygous Sod2 deficiency act synergistically in a mouse model of open-angle glaucoma.
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- Human Molecular Genetics, 2015, v. 24, n. 12, p. 3322, doi. 10.1093/hmg/ddv082
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- Article
Germline correction of an epimutation related to Silver-Russell syndrome.
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- Human Molecular Genetics, 2015, v. 24, n. 12, p. 3314, doi. 10.1093/hmg/ddv079
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Integration of disease association and eQTL data using a Bayesian colocalisation approach highlights six candidate causal genes in immune-mediated diseases.
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- Human Molecular Genetics, 2015, v. 24, n. 12, p. 3305, doi. 10.1093/hmg/ddv077
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- Article
HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain.
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- Human Molecular Genetics, 2015, v. 24, n. 12, p. 3335, doi. 10.1093/hmg/ddv083
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- Article