The DOI matches its Crossref record; 59 of the 59 references it cites were found in a registry or an index.
Monogenic hypercholesterolemia: new insights in pathogenesis and treatment
Open accessAbstract
Familial hypercholesterolemiaHistorical perspective.Familial hypercholesterolemia (FH), the most common and most severe form of monogenic hypercholesterolemia, was the first genetic disease of lipid metabolism to be clinically and
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Citations
Cites
The Metabolic and Molecular Bases of Inherited Disease
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Mutations in PCSK9 cause autosomal dominant hypercholesterolemia
Abifadel, M., Varret, M., Rabès, J.-P., Allard, D., Ouguerram, K., Devillers, M., Cruaud, C., Benjannet, S., Wickham, L., Erlich, D., et al. (2003) · Nature Genetics · doi:10.1038/ng1161 · Cited by 2,985
Berge, K. E., Tian, H., Graf, G. A., Yu, L., Grishin, N. V., Schultz, J., Kwiterovich, P., Shan, B., Barnes, R., & Hobbs, H. H. (2000) · Science · doi:10.1126/science.290.5497.1771 · Cited by 1,648
Self-citationSeidah, N. G., Benjannet, S., Wickham, L., Marcinkiewicz, J., Jasmin, S. B., Stifani, S., Basak, A., Prat, A., & Chrétien, M. (2003) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0335507100 · Cited by 1,191
Repa, J. J., Berge, K. E., Pomajzl, C., Richardson, J. A., Hobbs, H., & Mangelsdorf, D. J. (2002) · Journal of Biological Chemistry · doi:10.1074/jbc.m109927200 · Cited by 852
Self-citationBrodie, S. E. (1996) · Survey of Ophthalmology · doi:10.1016/s0039-6257(96)80075-0 · Cited by 745
Disruption of Abcg5 and Abcg8 in mice reveals their crucial role in biliary cholesterol secretion
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Self-citationIdentification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption
Lee, M.-H., Lu, K., Hazard, S., Yu, H., Shulenin, S., Hidaka, H., Kojima, H., Allikmets, R., Sakuma, N., Pegoraro, R., et al. (2001) · Nature Genetics · doi:10.1038/83799 · Cited by 682
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Research works printed but not linked: 2
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Cited by
Nordestgaard, B. G., Chapman, M. J., Humphries, S. E., Ginsberg, H. N., Masana, L., Descamps, O. S., Wiklund, O., Hegele, R. A., Raal, F. J., Defesche, J. C., et al. (2013) · European Heart Journal · doi:10.1093/eurheartj/eht273 · Cited by 2,761
MicroRNAs are transported in plasma and delivered to recipient cells by high-density lipoproteins
Vickers, K. C., Palmisano, B. T., Shoucri, B. M., Shamburek, R. D., & Remaley, A. T. (2011) · Nature Cell Biology · doi:10.1038/ncb2210 · Cited by 2,741
Simvastatin with or without Ezetimibe in Familial Hypercholesterolemia
Kastelein, J. J. P., Akdim, F., Stroes, E. S. G., Zwinderman, A. H., Bots, M. L., Stalenhoef, A. F. H., Visseren, F. L. J., Sijbrands, E. J. G., Trip, M. D., Stein, E. A., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa0800742 · Cited by 1,241
From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus
Musunuru, K., Strong, A., Frank-Kamenetsky, M., Lee, N. E., Ahfeldt, T., Sachs, K. V., Li, X., Li, H., Kuperwasser, N., Ruda, V. M., et al. (2010) · Nature · doi:10.1038/nature09266 · Cited by 1,140
Self-citationWiegman, A., Gidding, S. S., Watts, G. F., Chapman, M. J., Ginsberg, H. N., Cuchel, M., Ose, L., Averna, M., Boileau, C., Borén, J., et al. (2015) · European Heart Journal · doi:10.1093/eurheartj/ehv157 · Cited by 891
“Homozygous familial hypercholesterolaemia should be strongly suspected if the parents have cholesterol levels compatible with heterozygous status; if parental cholesterol levels are normal, a recessive form of FH due to mutations affecting the LDLRAP1 should be considered and sitosterolaemia excluded.(117)”
Background
Metadata
- Authors
- Rader, D. J., Cohen, J., & Hobbs, H. H.
- Venue
- Journal of Clinical Investigation
- Published
- 2003-06-15
- Volume
- 111
- Issue
- 12
- Pages
- 1795-1803
- ISSN
- 0021-9738 (ISSN-L)
- OpenAlex
- W2037832608
- Cited by
- 560
- References
- 59
- FWCI
- 17.86
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Rader, D. J., Cohen, J., & Hobbs, H. H. (2003). Monogenic hypercholesterolemia: new insights in pathogenesis and treatment. Journal of Clinical Investigation. https://doi.org/10.1172/jci18925
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
