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5,470 Newest Publications of oup
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A genome-wide association study of hepatitis B vaccine response in an Indonesian population reveals multiple independent risk variants in the HLA region
01-10-2011 | Png, E., Thalamuthu, A., Ong, R. T. H., Snippe, H., Boland, G. J., Seielstad, M., Human Molecular Genetics, 2011
We performed a two-stage genome-wide association study (GWAS) of antibody titer in 3614 hepatitis B vaccine recipients from Indonesia's Riau Archipelago, leading to the identification of at least three independent signals within the human leukocyte antigen (HLA) complex. These appear to ...
A genome-wide association study of chronic hepatitis B identified novel risk locus in a Japanese population
01-10-2011 | Mbarek, H., Ochi, H., Urabe, Y., Kumar, V., Kubo, M., Hosono, N., Takahashi, A., Kamatani, Y., Miki, D., Abe, H., Ts ..., Human Molecular Genetics, 2011
Hepatitis B virus (HBV) infection is a major health issue worldwide which may lead to hepatic dysfunction, liver cirrhosis and hepatocellular carcinoma. To identify host genetic factors that are associated with chronic hepatitis B (CHB) susceptibility, we previously conducted a two-stage ...
Genome-wide association study identifies common variants associated with circulating vitamin E levels
01-10-2011 | Major, Jacqueline M.; Yu, Kai; Wheeler, William; Zhang, Hong; Cornelis, Marilyn C.; Wright, Margaret E.; Yeager, Mer ..., Human Molecular Genetics, 2011
In genome-wide association studies (GWAS) of common genetic variants associated with circulating alpha- and gamma-tocopherol concentrations in two adult cohorts comprising 5006 men of European descent, we observed three loci associated with alpha-tocopherol levels, two novel ...
Genome-wide association study identifies new prostate cancer susceptibility loci
01-10-2011 | Schumacher, Fredrick R.; Berndt, Sonja I.; Siddiq, Afshan; Jacobs, Kevin B.; Wang, Zhaoming; Lindstrom, Sara; Steven ..., Human Molecular Genetics, 2011
Prostate cancer (PrCa) is the most common non-skin cancer diagnosed among males in developed countries and the second leading cause of cancer mortality, yet little is known regarding its etiology and factors that influence clinical outcome. Genome-wide association studies (GWAS) of PrCa have ...
Characterization of the CLEAR network reveals an integrated control of cellular clearance pathways
01-10-2011 | Palmieri, M., Impey, S., Kang, H., di Ronza, A., Pelz, C., Sardiello, M., Ballabio, A., Human Molecular Genetics, 2011
In metazoans, lysosomes are the center for the degradation of macromolecules and play a key role in a variety of cellular processes, such as autophagy, exocytosis and membrane repair. Defects of lysosomal pathways are associated with lysosomal storage disorders and with several late onset ...
Muscle choline kinase beta defect causes mitochondrial dysfunction and increased mitophagy
01-10-2011 | Mitsuhashi, S., Hatakeyama, H., Karahashi, M., Koumura, T., Nonaka, I., Hayashi, Y. K., Noguchi, S., Sher, R. B., Na ..., Human Molecular Genetics, 2011
Choline kinase is the first step enzyme for phosphatidylcholine (PC) de novo biosynthesis. Loss of choline kinase activity in muscle causes rostrocaudal muscular dystrophy (rmd) in mouse and congenital muscular dystrophy in human, characterized by distinct mitochondrial morphological ...
N88S seipin mutant transgenic mice develop features of seipinopathy/BSCL2-related motor neuron disease via endoplasmic reticulum stress
01-10-2011 | Yagi, T., Ito, D., Nihei, Y., Ishihara, T., Suzuki, N., Human Molecular Genetics, 2011
Heterozygosity for mutations (N88S and P90L) in the N-glycosylation site of seipin/BSCL2 is associated with the autosomal dominant motor neuron diseases, spastic paraplegia 17 and distal hereditary motor neuropathy type V, referred to as ‘seipinopathies’. Previous in vitro studies have shown ...
Modifier genes and non-genetic factors reshape anatomical deficits in Zfp423-deficient mice
01-10-2011 | Alcaraz, W. A., Chen, E., Valdes, P., Kim, E., Lo, Y. H., Vo, J., Hamilton, B. A., Human Molecular Genetics, 2011
Development of neural circuitry depends on the integration of signaling pathways to coordinate specification, proliferation and differentiation of cell types in the right number, in the right place, at the right time. Zinc finger protein 423 (Zfp423), a 30-zinc finger transcription factor, ...
Cellular toxicity of expanded RNA repeats: focus on RNA foci
01-10-2011 | Wojciechowska, M., Krzyzosiak, W. J., Human Molecular Genetics, 2011
Discrete and punctate nuclear RNA foci are characteristic molecular hallmarks of pathogenesis in myotonic dystrophy type 1 and type 2. Intranuclear RNA inclusions of distinct morphology have also been found in fragile X-associated tremor ataxia syndrome, Huntington's disease-like 2, ...
Neuron-specific impairment of inter-chromosomal pairing and transcription in a novel model of human 15q-duplication syndrome
01-10-2011 | Meguro-Horike, M., Yasui, D. H., Powell, W., Schroeder, D. I., Oshimura, M., LaSalle, J. M., Horike, S.-i., Human Molecular Genetics, 2011
Although the etiology of autism remains largely unknown, cytogenetic and genetic studies have implicated maternal copy number gains of 15q11–q13 in 1–3% of autism cases. In order to understand how maternal 15q duplication leads to dysregulation of gene expression and altered chromatin ...
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