Works matching IS 09646906 AND DT 2006 AND VI 15 AND IP 9
Results: 17
Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.
- Published in:
- Human Molecular Genetics, 2006, v. 15, n. 9, p. 1559, doi. 10.1093/hmg/ddl079
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- Article
Effect of mutations in the PCSK9 gene on the cell surface LDL receptors.
- Published in:
- Human Molecular Genetics, 2006, v. 15, n. 9, p. 1551, doi. 10.1093/hmg/ddl077
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- Article
Impaired helix 12 dynamics due to proline 892 substitutions in the androgen receptor are associated with complete androgen insensitivity.
- Published in:
- Human Molecular Genetics, 2006, v. 15, n. 9, p. 1561, doi. 10.1093/hmg/ddl075
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- Article
The nuclear MicroSpherule protein 58 is a novel RNA-binding protein that interacts with fragile X mental retardation protein in polyribosomal mRNPs from neurons.
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- Human Molecular Genetics, 2006, v. 15, n. 9, p. 1525, doi. 10.1093/hmg/ddl074
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- Article
Association of alcohol dehydrogenase genes with alcohol dependence: a comprehensive analysis.
- Published in:
- Human Molecular Genetics, 2006, v. 15, n. 9, p. 1539, doi. 10.1093/hmg/ddl073
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- Article
Body weight is modulated by levels of full-length Huntingtin.
- Published in:
- Human Molecular Genetics, 2006, v. 15, n. 9, p. 1513, doi. 10.1093/hmg/ddl072
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- Article
Context-specific functional effects of IFNGR1 promoter polymorphism.
- Published in:
- Human Molecular Genetics, 2006, v. 15, n. 9, p. 1475, doi. 10.1093/hmg/ddl071
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- Article
Identification of an N-terminal glycogen synthase kinase 3 phosphorylation site which regulates the functional localization of polycystin-2 in vivo and in vitro.
- Published in:
- Human Molecular Genetics, 2006, v. 15, n. 9, p. 1465, doi. 10.1093/hmg/ddl070
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- Publication type:
- Article
Gene targeting of GAN in mouse causes a toxic accumulation of microtubule-associated protein 8 and impaired retrograde axonal transport.
- Published in:
- Human Molecular Genetics, 2006, v. 15, n. 9, p. 1451, doi. 10.1093/hmg/ddl069
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- Article
A profile of alternative RNA splicing and transcript variation of CACNA1H, a human T-channel gene candidate for idiopathic generalized epilepsies.
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- Human Molecular Genetics, 2006, v. 15, n. 9, p. 1497, doi. 10.1093/hmg/ddl068
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- Article
Molecular pathways that influence human tau-induced pathology in Caenorhabditis elegans.
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- Human Molecular Genetics, 2006, v. 15, n. 9, p. 1483, doi. 10.1093/hmg/ddl067
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- Article
Mitochondria are a direct site of Aβ accumulation in Alzheimer's disease neurons: implications for free radical generation and oxidative damage in disease progression.
- Published in:
- Human Molecular Genetics, 2006, v. 15, n. 9, p. 1437, doi. 10.1093/hmg/ddl066
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- Article
Targeted inhibition of Ca2+/calmodulin signaling exacerbates the dystrophic phenotype in mdx mouse muscle.
- Published in:
- Human Molecular Genetics, 2006, v. 15, n. 9, p. 1423, doi. 10.1093/hmg/ddl065
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- Publication type:
- Article
Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome.
- Published in:
- Human Molecular Genetics, 2006, v. 15, n. 9, p. 1413, doi. 10.1093/hmg/ddl064
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- Article
Polymorphism in the activity of human crossover hotspots independent of local DNA sequence variation.
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- Human Molecular Genetics, 2006, v. 15, n. 9, p. 1401, doi. 10.1093/hmg/ddl063
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- Article
Branching and nucleokinesis defects in migrating interneurons derived from doublecortin knockout mice.
- Published in:
- Human Molecular Genetics, 2006, v. 15, n. 9, p. 1387, doi. 10.1093/hmg/ddl062
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- Publication type:
- Article
Mutations in DNA methyltransferase DNMT3B in ICF syndrome affect its regulation by DNMT3L.
- Published in:
- Human Molecular Genetics, 2006, v. 15, n. 9, p. 1375, doi. 10.1093/hmg/ddl059
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- Publication type:
- Article