The DOI matches its Crossref record.
The novel variant p.Ser465Leu in the PCSK9 gene does not account for the decreased LDLR activity in members of a FH family
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Both loss-of-function and gain-of-function PCSK9 mutations can impair PCSK9 secretion and reduce its plasma levels.
“However, both loss-of-function and gain-of-function mutations can impair PCSK9 secretion and reduce its plasma levels34–38.”
From Membrane type 1 matrix metalloproteinase promotes LDL receptor shedding and accelerates the development of atherosclerosis (2021) · cites this paper as [37]
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No references could be resolved yet.
Research works printed but not linked: 20
- Romano, 2010, Identification and functional characterization of LDLR mutations in familial hypercholesterolemia patients from Southern Italy, Atherosclerosis, 210
- Pullinger, 1999, The apolipoprotein mutation characteristics of subjects from kindreds, J Lipid Res, 24, 3531
- Romano, 2010, Identification and functional characterization of LDLR mutations in familial hypercholesterolemia patients from Southern Italy, Atherosclerosis, 210
- Sun, 2005, Evidence for effect of mutant on apolipoprotein secretion as the cause of unusually severe dominant hypercholesterolaemia, Hum Mol Genet, 14, 10.1093/hmg/ddi128 · DOI
- Minhas, 2009, Controversies in familial hypercholesterolaemia : recommendations of the NICE guideline development group for the identification and management of familial hypercholesterolaemia, Heart, 95
- Minhas, 2009, Controversies in familial hypercholesterolaemia : recommendations of the NICE guideline development group for the identification and management of familial hypercholesterolaemia, Heart, 95
- Romano, 2011, An improved method on stimulated T - lymphocytes to functionally characterize novel and known LDLR mutations, J Lipid Res, 2095, 10.1194/jlr.D017772 · DOI
- Tibolla, 2011, Proprotein convertase subtilisin / kexin type from structure function relation to therapeutic inhibition, Nutr Metab Cardiovasc Dis, 21, 835, 10.1016/j.numecd.2011.06.002 · DOI
- Gentile, 2008, dense LDL particles and metabolic syndrome in a sample of middle - aged women Findings from Progetto, Small Clin Chim Acta, 388
- Sun, 2005, Evidence for effect of mutant on apolipoprotein secretion as the cause of unusually severe dominant hypercholesterolaemia, Hum Mol Genet, 14, 10.1093/hmg/ddi128 · DOI
- Pullinger, 1999, The apolipoprotein mutation characteristics of subjects from kindreds, J Lipid Res, 24, 3531
- Wang, 2012, Molecular characterization of proprotein convertase subtilisin / kexin type mediated degradation of the LDLR, J Lipid Res, 53
- Romano, 2011, An improved method on stimulated T - lymphocytes to functionally characterize novel and known LDLR mutations, J Lipid Res, 2095, 10.1194/jlr.D017772 · DOI
- Hopkins, 2011, DJ National lipid association expert panel on familial hypercholesterolemia Familial hypercholesterolemias prevalence genetics diagnosis and screening recommendations from the National lipid association expert panel on familial hypercholesterolemia, Clin, 9
- Tibolla, 2011, Proprotein convertase subtilisin / kexin type from structure function relation to therapeutic inhibition, Nutr Metab Cardiovasc Dis, 21, 835, 10.1016/j.numecd.2011.06.002 · DOI
- Flanagan, 2010, Using SIFT and PolyPhen to predict loss - of - function and gain - of - function mutations Test, AM Genet Mol Biomarkers, 14, 533, 10.1089/gtmb.2010.0036 · DOI
- Wang, 2012, Molecular characterization of proprotein convertase subtilisin / kexin type mediated degradation of the LDLR, J Lipid Res, 53
- Gentile, 2008, dense LDL particles and metabolic syndrome in a sample of middle - aged women Findings from Progetto, Small Clin Chim Acta, 388
- Hopkins, 2011, DJ National lipid association expert panel on familial hypercholesterolemia Familial hypercholesterolemias prevalence genetics diagnosis and screening recommendations from the National lipid association expert panel on familial hypercholesterolemia, Clin, 9
- Flanagan, 2010, Using SIFT and PolyPhen to predict loss - of - function and gain - of - function mutations Test, AM Genet Mol Biomarkers, 14, 533, 10.1089/gtmb.2010.0036 · DOI
Cited by
Sorted by citations
Alabi, A., Xia, X.-D., Gu, H.-M., Wang, F., Deng, S.-J., Yang, N., Adijiang, A., Douglas, D. N., Kneteman, N. M., Xue, Y., et al. (2021) · Nature Communications · doi:10.1038/s41467-021-22167-3 · Cited by 63
Metadata
- Authors
- Ruotolo, A., Di Taranto, M. D., D’Agostino, M. N., Marotta, G., Gentile, M., Nunziata, M., Sodano, M., Di Noto, R., Del Vecchio, L., Rubba, P., & Fortunato, G.
- Venue
- Clinical Chemistry and Laboratory Medicine (CCLM)
- Publisher
- Walter de Gruyter GmbH
- Published
- 2014-01-01
- Volume
- 52
- Issue
- 8
- ISSN
- 1437-4331
- 1434-6621
- Cited by
- 18
- References
- 0
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