The DOI matches its Crossref record; 3 of the 3 references it cites were found in a registry or an index.
Polymorphism of the PEMT gene and susceptibility to nonalcoholic fatty liver disease (NAFLD)
Open accessAbstract
Phosphatidylethanolamine N ‐methyltransferase (PEMT) catalyzes phosphatidylcholine synthesis. PEMT knockout mice have fatty livers, and it is possible that, in humans, nonalcoholic fatty liver disease (NAFLD) might be associated with PEMT gene polymorphisms. DNA samples from 59 humans without fatty liver and from 28 humans with NAFLD were genotyped for a single nucleotide polymorphism in exon 8 of PEMT , which leads to a V175M substitution. V175M is a loss of function mutation, as determined by transiently transfecting McArdle‐RH7777 cells with constructs of wild‐type PEMT open reading frame or the V175M mutant. Met/Met at residue 175 (loss of function SNP) occurred in 67.9% of the NAFLD subjects and in only 40.7% of control subjects ( P <0.03). For the first time we report that a polymorphism of the human PEMT gene (V175M) is associated with diminished activity and may confer susceptibility to NAFLD. Song, J., da Costa, K. A., Fischer, L. M., Kohlmeier, M., Kwock, L., Wang, S., Zeisel, S. H. Polymorphism of the PEMT gene and susceptibility to nonalcoholic fatty liver disease (NAFLD). FASEB J. 19, 1266–1271 (2005)
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Cites
Molecular mediators of hepatic steatosis and liver injury
Browning, J. D., & Horton, J. D. (2004) · Journal of Clinical Investigation · doi:10.1172/jci200422422 · Cited by 1,772
Yao, Z. M., & Vance, D. E. (1988) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)69166-5 · Cited by 618 · cited 1×
“Synthesis of new phosphatidylcholine molecules is required for VLDL formation; when they are not available, fat droplets accumulate in the cytosol of liver cells (6, 7, 29).”
BackgroundMolecular diagnosis of bacterial endocarditis by broad-range PCR amplification and direct sequencing
Goldenberger, D., Künzli, A., Vogt, P., Zbinden, R., & Altwegg, M. (1997) · Journal of Clinical Microbiology · doi:10.1128/jcm.35.11.2733-2739.1997 · Cited by 390
Cited by
Progression of NAFLD to diabetes mellitus, cardiovascular disease or cirrhosis
Anstee, Q. M., Targher, G., & Day, C. P. (2013) · Nature Reviews Gastroenterology & Hepatology · doi:10.1038/nrgastro.2013.41 · Cited by 1,747
van der Veen, J. N., Kennelly, J. P., Wan, S., Vance, J. E., Vance, D. E., & Jacobs, R. L. (2017) · Biochimica et Biophysica Acta (BBA) - Biomembranes · doi:10.1016/j.bbamem.2017.04.006 · Cited by 1,514
Choline: Critical Role During Fetal Development and Dietary Requirements in Adults
Zeisel, S. H. (2006) · Annual Review of Nutrition · doi:10.1146/annurev.nutr.26.061505.111156 · Cited by 741
Self-citationSpencer, M. D., Hamp, T. J., Reid, R. W., Fischer, L. M., Zeisel, S. H., & Fodor, A. A. (2011) · Gastroenterology · doi:10.1053/j.gastro.2010.11.049 · Cited by 593
Self-citationAn improved mouse model that rapidly develops fibrosis in non‐alcoholic steatohepatitis
Matsumoto, M., Hada, N., Sakamaki, Y., Uno, A., Shiga, T., Tanaka, C., Ito, T., Katsume, A., & Sudoh, M. (2013) · International Journal of Experimental Pathology · doi:10.1111/iep.12008 · Cited by 523
Metadata
- Authors
- Song, J., Da Costa, K. A., Fischer, L. M., Kohlmeier, M., Kwock, L., Wang, S., & Zeisel, S. H.
- Venue
- The FASEB Journal
- Publisher
- Wiley
- Published
- 2005-08
- Volume
- 19
- Issue
- 10
- Pages
- 1266-1271
- ISSN
- 0892-6638 (ISSN-L)
- 1530-6860
- OpenAlex
- W2003202242
- Cited by
- 239
- References
- 3
- FWCI
- 5.67
- Type
- journal article
- Language
- en
- Open access
- green
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- Song, J., Da Costa, K. A., Fischer, L. M., Kohlmeier, M., Kwock, L., Wang, S., & Zeisel, S. H. (2005). Polymorphism of the PEMT gene and susceptibility to nonalcoholic fatty liver disease (NAFLD). The FASEB Journal. https://doi.org/10.1096/fj.04-3580com
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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