Works matching IS 09646906 AND DT 2008 AND VI 17 AND IP 18
Results: 16
A risk haplotype of STAT4 for systemic lupus erythematosus is over-expressed, correlates with anti-dsDNA and shows additive effects with two risk alleles of IRF5.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 18, p. 2868, doi. 10.1093/hmg/ddn184
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- Article
NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling.
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- Human Molecular Genetics, 2008, v. 17, n. 18, p. 2886, doi. 10.1093/hmg/ddn187
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- Article
Embryonic motor axon development in the severe SMA mouse.
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- Human Molecular Genetics, 2008, v. 17, n. 18, p. 2900, doi. 10.1093/hmg/ddn189
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- Article
A mouse model of human mucopolysaccharidosis IX exhibits osteoarthritis.
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- Human Molecular Genetics, 2008, v. 17, n. 18, p. 2919, doi. 10.1093/hmg/ddn207
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- Article
Glutathione-dependent redox status of frataxin-deficient cells in a yeast model of Friedreich's ataxia.
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- Human Molecular Genetics, 2008, v. 17, n. 18, p. 2790, doi. 10.1093/hmg/ddn178
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- Article
Nicotinic acetylcholine receptor β2 subunit gene implicated in a systems-based candidate gene study of smoking cessation.
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- Human Molecular Genetics, 2008, v. 17, n. 18, p. 2834, doi. 10.1093/hmg/ddn181
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- Article
A novel mouse model with impaired dynein/dynactin function develops amyotrophic lateral sclerosis (ALS)-like features in motor neurons and improves lifespan in SOD1-ALS mice.
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- Human Molecular Genetics, 2008, v. 17, n. 18, p. 2849, doi. 10.1093/hmg/ddn182
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- Article
Loss of polycystin-1 causes centrosome amplification and genomic instability.
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- Human Molecular Genetics, 2008, v. 17, n. 18, p. 2819, doi. 10.1093/hmg/ddn180
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- Article
Hypomethylation of subtelomeric regions in ICF syndrome is associated with abnormally short telomeres and enhanced transcription from telomeric regions.
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- Human Molecular Genetics, 2008, v. 17, n. 18, p. 2776, doi. 10.1093/hmg/ddn177
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- Article
Association study of the NEDD9 gene with the risk of developing Alzheimer's and Parkinson's disease.
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- Human Molecular Genetics, 2008, v. 17, n. 18, p. 2863, doi. 10.1093/hmg/ddn183
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- Article
Somatic microindels in human cancer: the insertions are highly error-prone and derive from nearby but not adjacent sense and antisense templates.
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- Human Molecular Genetics, 2008, v. 17, n. 18, p. 2910, doi. 10.1093/hmg/ddn190
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- Article
PTHR1 mutations associated with Ollier disease result in receptor loss of function.
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- Human Molecular Genetics, 2008, v. 17, n. 18, p. 2766, doi. 10.1093/hmg/ddn176
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- Article
Polygenic determinants of severe hypertriglyceridemia.
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- Human Molecular Genetics, 2008, v. 17, n. 18, p. 2894, doi. 10.1093/hmg/ddn188
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- Article
Haploinsufficiency of the germ cell-specific nuclear RNA binding protein hnRNP G-T prevents functional spermatogenesis in the mouse.
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- Human Molecular Genetics, 2008, v. 17, n. 18, p. 2803, doi. 10.1093/hmg/ddn179
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- Article
ATP modulates PTEN subcellular localization in multiple cancer cell lines.
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- Human Molecular Genetics, 2008, v. 17, n. 18, p. 2877, doi. 10.1093/hmg/ddn185
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- Article
Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy.
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- Human Molecular Genetics, 2008, v. 17, n. 18, p. 2753, doi. 10.1093/hmg/ddn160
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- Article