The DOI matches its Crossref record; 13 of the 13 references it cites were found in a registry or an index.
Marked HDL deficiency and premature coronary heart disease
Open accessAbstract
PURPOSE OF REVIEW: Our purpose is to review recent publications in the area of marked human HDL deficiency, HDL particles, coronary heart disease (CHD), amyloidosis, the immune response, and kidney disease. RECENT FINDINGS: Lack of detectable plasma apolipoprotein (apo) A-I can be due to DNA deletions, rearrangements, or nonsense or frameshift mutations within the APOA1 gene resulting in a lack of apoA-I secretion. Such patients have marked HDL deficiency, normal levels of triglycerides and LDL cholesterol, and can have xanthomas and premature CHD. ApoA-I variants with amino acid substitutions, especially in the region of amino acid residues 50-93 and 170-178, have been associated with amyloidosis. Patients with homozygous Tangier disease have defective cellular cholesterol efflux due to mutations in the adenosine triphosphate-binding cassette transporter A1, detectable plasma apoA-I levels and prebeta-1 HDL in their plasma. They have decreased LDL cholesterol levels and can develop neuropathy and premature CHD. Patients with lecithin: cholesterol acyltransferase deficiency have both prebeta-1 and alpha-4 HDL present in their plasma and develop corneal opacities, anemia, proteinuria, and kidney failure. SUMMARY: Patients with marked HDL deficiency can have great differences in their clinical phenotype depending on the underlying defect.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
In the citing paper
“According to the results from Danish and American population studies, approximately 10% of individuals with HDL-C levels below the 5th percentile are heterozygous for mutations in the genes of APOA1, ABCA1 or LCAT [28, 29].”
From HDL cholesterol: reappraisal of its clinical relevance (2017) · cites this paper as [28]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Barlage, S., Gnewuch, C., Liebisch, G., Wolf, Z., Audebert, F., Glück, T., Fröhlich, D., Krämer, B. K., Rothe, G., & Schmitz, G. (2009) · Intensive Care Medicine · doi:10.1007/s00134-009-1609-y · Cited by 174
Hereditary Apolipoprotein AI-Associated Amyloidosis in Surgical Pathology Specimens
Eriksson, M., Schönland, S. O., Yumlu, S., Hegenbart, U., von Hutten, H., Владиславовна, Г. З., Lohse, P., Büttner, J., Schmidt, H., & Röcken, C. (2009) · Journal of Molecular Diagnostics · doi:10.2353/jmoldx.2009.080161 · Cited by 135
Small Discoidal Pre-β1 HDL Particles Are Efficient Acceptors of Cell Cholesterol via ABCA1 and ABCG1
Favari, E., Calabresi, L., Adorni, M. P., Jessup, W., Simonelli, S., Franceschini, G., & Bernini, F. (2009) · Biochemistry · doi:10.1021/bi901564g · Cited by 123
Functional LCAT is not required for macrophage cholesterol efflux to human serum
Calabresi, L., Favari, E., Moleri, E., Adorni, M. P., Pedrelli, M., Costa, S., Jessup, W., Gelissen, I. C., Kovanen, P. T., Bernini, F., et al. (2008) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2008.08.038 · Cited by 73
Human innate immunity against African trypanosomes
Pays, É., & Vanhollebeke, B. (2009) · Current Opinion in Immunology · doi:10.1016/j.coi.2009.05.024 · Cited by 71
Characterization of high density lipoprotein particles in familial apolipoprotein A-I deficiency
Santos, R. D., Schaefer, E. J., Asztalos, B. F., Polisecki, E. Y., Wang, J., Hegele, R. A., Martinez, L. R. C., Miname, M. H., Rochitte, C. E., da Luz, P. L., et al. (2007) · Journal of Lipid Research · doi:10.1194/jlr.m700362-jlr200 · Cited by 65
Self-citationSantos, R. D., Miname, M. H., Martinez, L. R. C., Rochitte, C. E., Chacra, A. P. M., Nakandakare, E. R., Chen, D. J., & Schaefer, E. J. (2007) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2007.08.017 · Cited by 45
Self-citationSantos, R. D., Asztalos, B., Martinez, L., Miname, M., Polisecki, E., & Schaefer, E. (2008) · Journal of Clinical Lipidology · doi:10.1016/j.jacl.2008.06.002 · Cited by 40
Self-citationBaass, A. W., Wassef, H., Tremblay, M., Bernier, L., Dufour, R., & Davignon, J. (2009) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2009.05.014 · Cited by 19
In Vivo Imaging of the Cornea in a Patient with Lecithin-Cholesterol Acyltransferase Deficiency
Palmiero, P., Sbeity, Z. H., Liebmann, J. M., & Ritch, R. H. (2009) · Cornea · doi:10.1097/ico.0b013e31819839ae · Cited by 16
Flagged first, then by citations
Cited by
Sorted by citations
Items 101–127 of 127
Furuta, Y., Osaki, Y., Nakagawa, Y., Han, S., Araki, M., Shikama, A., Ohuchi, N., Yamazaki, D., Matsuda, E., Nohara, S., et al. (2024) · Journal of Atherosclerosis and Thrombosis · doi:10.5551/jat.64579 · Cited by 2
Health Risks of Very Low Cholesterol
Nagar, M. (2011) · Touro Scholar (Touro College) · Cited by 1
Genetic Disorders of Lipoprotein Metabolism
Brown, A. S., Dababneh, E. G., Chaus, A. M., Chyzhyk, V., Marinescu, V., & Pyslar, N. (2020) · Contemporary cardiology · doi:10.1007/978-3-030-56514-5_3 · Cited by 1
Tangier disease in family with the phenotype of familial hypercholesterolemia
Urbánek, R., Tichý, L., & Freiberger, T. (2020) · Vnitřní lékařství · doi:10.36290/vnl.2020.125 · Cited by 1
Kontush, A., & Chapman, M. J. (2011) · doi:10.1002/9781118158678.ch2 · Cited by 1
Fung, K., Ho, T. W. W., Xu, Z., Neculai, D., Beauchemin, C. A. A., Lee, W. L., & Fairn, G. D. (2022) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2022.08.08.503162 · Cited by 1
Laham, M. S., Ackerman-Berrier, M. S., Alam, F., Turner, S., Velma, G. R., Penton, C., Musku, S. R., Rana, M., Thulasingam, S., Anandhan, A., et al. (2025) · eLife · doi:10.1101/2025.09.12.675753 · Cited by 1
Laham, M. S., Ackerman-Berrier, M. S., Alam, F., Turner, S., Velma, G. R., Penton, C., Musku, S. R., Rana, M., Kumar, S., Anandhan, A., et al. (2025) · eLife · doi:10.7554/elife.109146.1 · Cited by 1
Characterization of oxysterols produced in macrophages and mechanisms of regulation
Chen, Y. (2016) · theses.fr (ABES) · doi:10.70675/379acbf2z8e6cz41dbza8eaza1ac615d59cd · Cited by 1
Majem, L. S., & Vázquez, C. (2014) · Elsevier eBooks · doi:10.1016/b978-84-9022-595-0.00013-2
Klose, G., & Hambrecht, R. (2013) · Der Kardiologe · doi:10.1007/s12181-013-0505-4
SCP-2/SCP-x Gene Ablation Exacerbates High Cholesterol Diet Induced Hepatic Lipid Accumulation
Klipsic, D. (2015) · OakTrust (Texas A&M University Libraries)
Negatively Cooperative Binding of High-Density Lipoprotein to the HDL Receptor SR-BI
Xu, S., Krieger, M., Nieland, T. J. F., & Penman, M. (2011) · DSpace@MIT (Massachusetts Institute of Technology)
Bilateral corneal clouding of lecithin cholesterol acyltransferase deficiency – A rare case report
Maheshwari, S., Muthayya, M., Thiyagarajan, P., & Barathi, G. (2021) · TNOA Journal of Ophthalmic Science and Research · doi:10.4103/tjosr.tjosr_184_20
The Promise of Apolipoprotein AI-Based Therapy
Trusca, V. G. (2021) · Austin Journal of Molecular and Cellular Biology · doi:10.26420/austinjmolcellbiol.2021.1009
Kontush, A., & Chapman, M. J. (2011) · Wiley eBooks · doi:10.1002/9781118158678.ch6
Kontush, A., & Chapman, M. J. (2011) · doi:10.1002/9781118158678.ch9
Kontush, A., & Chapman, M. J. (2011) · Wiley eBooks · doi:10.1002/9781118158678.ch1
Kontush, A., & Chapman, M. J. (2011) · Wiley eBooks · doi:10.1002/9781118158678.fmatter
Primär genetische Dyslipoproteinämien und Atheroskleroserisiko
Schwab, K. O., & Doerfer, J. (2022) · Springer eBooks · doi:10.1007/978-3-662-63320-5_3
Negi, P., Heikkilä, T., Vuorenpää, K., Tuunainen, E., Nammas, W., Maaniitty, T., Knuuti, J. M., Metso, J., Lövgren, J., Jauhiainen, M., et al. (2022) · Frontiers in Cardiovascular Medicine · doi:10.3389/fcvm.2022.912578
Laham, M. S., Ackerman-Berrier, M. S., Alam, F., Turner, S., Velma, G. R., Penton, C., Musku, S. R., Rana, M., Thulasingam, S., Anandhan, A., et al. (2025) · eLife · doi:10.7554/elife.109146
Laham, M. S., Ackerman-Berrier, M. S., Alam, F., Turner, S., Velma, G. R., Penton, C., Musku, S. R., Rana, M., Thulasingam, S., Anandhan, A., et al. (2026) · eLife · doi:10.7554/elife.109146.2
Clinical Assessment of Anti-Atherogenic Function of HighDensity Lipoprotein (HDL)
Ma, F. (2018) · theses.fr (ABES) · doi:10.70675/aec01babza8edz47a2zb4d4zc7c3be00b185
Omics of human plasma lipoproteins : role in cardiometabolic diseases
Zakiev, E. (2019) · theses.fr (ABES) · doi:10.70675/d80fee25za2f2z4790z9eb9ze82d5514a198
Metadata
- Authors
- Schaefer, E. J., Santos, R. D., & Asztalos, B. F.
- Affiliations
- Tufts University (US)
- Universidade de São Paulo (BR)
- Corresponding author
- Schaefer, Ernst J
- Venue
- Current Opinion in Lipidology
- Published
- 2010-08
- Volume
- 21
- Issue
- 4
- Pages
- 289-297
- ISSN
- 0957-9672 (ISSN-L)
- PMC
- PMC6942922
- OpenAlex
- W2063658298
- Cited by
- 127
- References
- 13
- Citations by year
- 2026: 1 · 2025: 6 · 2024: 4 · 2023: 3 · 2022: 10 · 2021: 6 · 2020: 6 · 2019: 4 · 2018: 8 · 2017: 7 · 2016: 6 · 2015: 11 · 2014: 13 · 2013: 14 · 2012: 10
- FWCI
- 13.83
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Current Opinion in Lipidology (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institutes of Health (5f32hl007475-02, 5p50hl083813-05)
- National Heart, Lung, and Blood Institute (HL 60935, R01HL074753, P050HL083813, R01HL060935, HL 7475, P50-HL083813)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Biochemistry › Cholesterol and Lipid Metabolism
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipoproteins and Cardiovascular Health
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipid metabolism and disorders
- Keywords
- apolipoprotein A-I, premature coronary artery disease, xanthoma, amyloidosis, Tangier disease, ABCA1, lecithin:cholesterol acyltransferase deficiency, immune response, kidney disease, corneal opacity, neuropathy
- MeSH terms
- Amyloidosis, Base Sequence, Coronary Disease, Humans, Phosphatidylcholine-Sterol O-Acyltransferase, Lipoproteins, HDL, Apolipoprotein A-I, ATP-Binding Cassette Transporters
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
