The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
A form of familial hypobetalipoproteinaemia not due to a mutation in the apolipoprotein B gene
Abstract
Abstract. Familial hypobetalipoproteinaemia (FHBL) is a dominant disorder of lipoprotein metabolism characterized by levels of apolipoprotein B‐carrying lipoproteins (VLDL, IDL and LDL) which are 50% of the normal levels in the heterozygotes and almost absent in the homozygotes. Several reports have recently shown that the underlying defect in FHBL involves different mutations in the apo B gene which lead to reduced levels of apo B mRNA or to the production of truncated forms of apo B having either a lower synthetic rate or a higher catabolic rate than normal apo B. We here present a three‐generation family with several FHBL members in which the linkage analysis shows absence of co‐segregation between apo B gene alleles and the hypocholesterolaemic phenotype. We conclude that a dominantly transmitted mutation in a gene other than that for apo B is responsible for the low plasma cholesterol levels.
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An Italian town known for longevity was found to have an unusually large number of individuals with the S17X loss-of-function ANGPTL3 mutation.
“In fact, an Italian town known for the longevity of its residents was found to have an unusually large number of individuals with the S17X loss-of-function ANGPTL3 mutation (108, 118, 173).”
From Regulation of lipoprotein metabolism by ANGPTL3, ANGPTL4, and ANGPTL8 (2021) · cites this paper as [173]
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Hofmann, S. L., Russell, D. W., Brown, M. S., Goldstein, J. L., & Hammer, R. E. (1988) · Science · doi:10.1126/science.3344433 · Cited by 117
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Research works printed but not linked: 21
- Herbert PN, 1983, The Metabolic Basis of Inherited Disease, 589
- Mawatari S., 1979, Familial hypo‐β‐lipoproteinemia, J Neurol Sci, 19, 63
- 10.1001/archneur.1963.00460040108010 · DOI
- 10.1172/JCI112766 · DOI
- 10.1172/JCI113795 · DOI
- 10.1172/JCI113025 · DOI
- 10.1056/NEJM198906153202407 · DOI
- Krul ES, 1988, Truncated apoprotein B in a kindred with hypobetalipoproteinemia, Circulation, 78, 11
- 10.1172/JCI113688 · DOI
- 10.1172/JCI113357 · DOI
- 10.1126/science.3399894 · DOI
- 10.1093/nar/16.17.8361 · DOI
- Giampaoli S., 1988, Mortality and coronary events in two Italian MONICA areas: area Latina and area Brianza, Acta Med Scand, 222, 67, 10.1111/j.0954-6820.1988.tb05555.x · DOI
- 10.1007/978-1-4615-9474-1_5 · DOI
- 10.1073/pnas.78.9.5759 · DOI
- 10.1016/0021-9150(88)90287-0 · DOI
- 10.1016/S0140-6736(86)91222-5 · DOI
- 10.1172/JCI112590 · DOI
- 10.1172/JCI110173 · DOI
- 10.1016/0026-0495(87)90186-7 · DOI
- 10.1172/JCI114212 · DOI
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Angiopoietin-like 3 in lipoprotein metabolism
Kersten, S. (2017) · Nature Reviews Endocrinology · doi:10.1038/nrendo.2017.119 · Cited by 220
Minicocci, I., Montali, A., Robciuc, M. R., Quagliarini, F., Censi, V., Labbadia, G., Gabiati, C., Pigna, G., Sepe, M. L., Pannozzo, F., et al. (2012) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2012-1298 · Cited by 168
Self-citationRegulation of lipoprotein metabolism by ANGPTL3, ANGPTL4, and ANGPTL8
Sylvers-Davie, K. L., & Davies, B. S. J. (2021) · American Journal of Physiology-Endocrinology and Metabolism · doi:10.1152/ajpendo.00195.2021 · Cited by 154
Metadata
- Authors
- FAZIO, S., SIDOLI, A., VIVENZIO, A., MAIETTA, A., GIAMPAOLI, S., MENOTTI, A., ANTONINI, R., URBINATI, G., BARALLE, F. E., & RICCI, G.
- Venue
- Journal of Internal Medicine
- Publisher
- Wiley
- Published
- 1991-01
- Volume
- 229
- Issue
- 1
- Pages
- 41-47
- ISSN
- 0954-6820
- 1365-2796
- Cited by
- 28
- References
- 1
- Language
- en
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