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 ...

mehr

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 ...

mehr

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 ...

mehr

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 ...

mehr

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 ...

mehr

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 ...

mehr

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 ...

mehr

01.10.2011 | Tsoi, H., Lau, C. K., Lau, K. F., Chan, H. Y. E., Human Molecular Genetics, 2011

Expanded CAG RNA has recently been reported to contribute to neurotoxicity in polyglutamine (polyQ) degeneration. In this study, we showed that RNA carrying an expanded CAG repeat progressively accumulated in the cell nucleus of transgenic Drosophila that displayed degeneration. Our gene ...

mehr

01.10.2011 | Luo, Y., Hermetz, K. E., Jackson, J. M., Mulle, J. G., Dodd, A., Tsuchiya, K. D., Ballif, B. C., Shaffer, L. G., Cod ..., Human Molecular Genetics, 2011

Chromosome rearrangements are a significant cause of intellectual disability and birth defects. Subtelomeric rearrangements, including deletions, duplications and translocations of chromosome ends, were first discovered over 40 years ago and are now recognized as being responsible for ...

mehr

01.10.2011 | Lawlor, K. T., O'Keefe, L. V., Samaraweera, S. E., van Eyk, C. L., McLeod, C. J., Maloney, C. A., Dang, T. H. Y., Su ..., Human Molecular Genetics, 2011

The pathogenic agent responsible for the expanded repeat diseases, a group of neurodegenerative diseases that includes Huntington's disease is not yet fully understood. Expanded polyglutamine (polyQ) is thought to be the toxic agent in certain cases, however, not all expanded repeat disease ...

mehr