Works matching IS 09646906 AND DT 2014 AND VI 23 AND IP 4
Results: 26
Mutations in MAP3K1 tilt the balance from SOX9/FGF9 to WNT/β-catenin signaling.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 4, p. 1073, doi. 10.1093/hmg/ddt502
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- Article
Functional screening in Drosophila identifies Alzheimer's disease susceptibility genes and implicates Tau-mediated mechanisms.
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- Human Molecular Genetics, 2014, v. 23, n. 4, p. 870, doi. 10.1093/hmg/ddt478
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- Article
Recessive TTN truncating mutations define novel forms of core myopathy with heart disease.
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- Human Molecular Genetics, 2014, v. 23, n. 4, p. 980, doi. 10.1093/hmg/ddt494
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- Article
Parkin overexpression ameliorates hippocampal long-term potentiation and β-amyloid load in an Alzheimer's disease mouse model.
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- Human Molecular Genetics, 2014, v. 23, n. 4, p. 1056, doi. 10.1093/hmg/ddt501
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- Article
Contents Page.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 4, p. NP, doi. 10.1093/hmg/ddu035
- Publication type:
- Article
AIPL1, A protein linked to blindness, is essential for the stability of enzymes mediating cGMP metabolism in cone photoreceptor cells.
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- Human Molecular Genetics, 2014, v. 23, n. 4, p. 1002, doi. 10.1093/hmg/ddt496
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- Article
Neuronal accumulation of glucosylceramide in a mouse model of neuronopathic Gaucher disease leads to neurodegeneration.
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- Human Molecular Genetics, 2014, v. 23, n. 4, p. 843, doi. 10.1093/hmg/ddt468
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- Article
Two classes of ovarian primordial follicles exhibit distinct developmental dynamics and physiological functions.
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- Human Molecular Genetics, 2014, v. 23, n. 4, p. 920, doi. 10.1093/hmg/ddt486
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- Article
Reduced polyalanine-expanded Arx mutant protein in developing mouse subpallium alters Lmo1 transcriptional regulation.
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- Human Molecular Genetics, 2014, v. 23, n. 4, p. 1084, doi. 10.1093/hmg/ddt503
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- Article
Integrative genome and transcriptome analyses reveal two distinct types of ring chromosome in soft tissue sarcomas.
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- Human Molecular Genetics, 2014, v. 23, n. 4, p. 878, doi. 10.1093/hmg/ddt479
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- Article
Editorial Board.
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- Human Molecular Genetics, 2014, v. 23, n. 4, p. NP, doi. 10.1093/hmg/ddu037
- Publication type:
- Article
Transcriptional regulation in pluripotent stem cells by methyl CpG-binding protein 2 (MeCP2).
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- Human Molecular Genetics, 2014, v. 23, n. 4, p. 1045, doi. 10.1093/hmg/ddt500
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- Article
The role of the mitochondrial ribosome in human disease: searching for mutations in 12S mitochondrial rRNA with high disruptive potential.
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- Human Molecular Genetics, 2014, v. 23, n. 4, p. 949, doi. 10.1093/hmg/ddt490
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- Publication type:
- Article
DNase hypersensitive sites and association with multiple sclerosis.
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- Human Molecular Genetics, 2014, v. 23, n. 4, p. 942, doi. 10.1093/hmg/ddt489
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- Publication type:
- Article
Increased ERK signalling promotes inflammatory signalling in primary airway epithelial cells expressing Z α1-antitrypsin.
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- Human Molecular Genetics, 2014, v. 23, n. 4, p. 929, doi. 10.1093/hmg/ddt487
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- Publication type:
- Article
Methylene blue rescues heart defects in a Drosophila model of Friedreich's ataxia.
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- Human Molecular Genetics, 2014, v. 23, n. 4, p. 968, doi. 10.1093/hmg/ddt493
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- Publication type:
- Article
DISC1 complexes with TRAK1 and Miro1 to modulate anterograde axonal mitochondrial trafficking.
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- Human Molecular Genetics, 2014, v. 23, n. 4, p. 906, doi. 10.1093/hmg/ddt485
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- Publication type:
- Article
TDP-43 Phosphorylation by casein kinase Iε promotes oligomerization and enhances toxicity in vivo.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 4, p. 1025, doi. 10.1093/hmg/ddt498
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- Publication type:
- Article
A meta-analysis of genome-wide association studies for adiponectin levels in East Asians identifies a novel locus near WDR11-FGFR2.
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- Human Molecular Genetics, 2014, v. 23, n. 4, p. 1108, doi. 10.1093/hmg/ddt488
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- Publication type:
- Article
RNA sequencing-based identification of aberrant imprinting in cloned mice.
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- Human Molecular Genetics, 2014, v. 23, n. 4, p. 992, doi. 10.1093/hmg/ddt495
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- Article
Cover Page.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 4, p. NP, doi. 10.1093/hmg/ddu036
- Publication type:
- Article
Chondrolectin affects cell survival and neuronal outgrowth in in vitro and in vivo models of spinal muscular atrophy.
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- Human Molecular Genetics, 2014, v. 23, n. 4, p. 855, doi. 10.1093/hmg/ddt477
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- Publication type:
- Article
Genome-wide alteration of 5-hydroxymethylcytosine in a mouse model of fragile X-associated tremor/ataxia syndrome.
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- Human Molecular Genetics, 2014, v. 23, n. 4, p. 1095, doi. 10.1093/hmg/ddt504
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- Publication type:
- Article
Ataxia and hypogonadism caused by the loss of ubiquitin ligase activity of the U box protein CHIP.
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- Human Molecular Genetics, 2014, v. 23, n. 4, p. 1013, doi. 10.1093/hmg/ddt497
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- Publication type:
- Article
WNT/β-catenin signalling is activated in aldosterone-producing adenomas and controls aldosterone production.
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- Human Molecular Genetics, 2014, v. 23, n. 4, p. 889, doi. 10.1093/hmg/ddt484
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- Publication type:
- Article
MeCP2: a novel Huntingtin interactor.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 4, p. 1036, doi. 10.1093/hmg/ddt499
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- Publication type:
- Article