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Select item 91989581.

Plasma FA composition in familial LCAT deficiency indicates SOAT2-derived cholesteryl ester formation in humans

Chiara Pavanello, Alice Ossoli, Arianna Strazzella, Patrizia Risè, Fabrizio Veglia, Marie Lhomme, Paolo Parini, Laura Calabresi

J Lipid Res. 2022 Jul; 63(7): 100232. Published online 2022 May 19. doi: 10.1016/j.jlr.2022.100232

PMCID:: PMC9198958

Article PDF–846K

Select item 82654252.

Current Status of Familial LCAT Deficiency in Japan

Masayuki Kuroda, Hideaki Bujo, Koutaro Yokote, Takeyoshi Murano, Takashi Yamaguchi, Masatsune Ogura, Katsunori Ikewaki, Masahiro Koseki, Yasuo Takeuchi, Atsuko Nakatsuka, Mika Hori, Kota Matsuki, Takashi Miida, Shinji Yokoyama, Jun Wada, Mariko Harada-Shiba

J Atheroscler Thromb. 2021 Jul 1; 28(7): 679–691. Published online 2021 Apr 18. doi: 10.5551/jat.RV17051

PMCID:: PMC8265425

Article PDF–944K

Select item 77071813.

Progression of chronic kidney disease in familial LCAT deficiency: a follow-up of the Italian cohort

Chiara Pavanello, Alice Ossoli, Marcello Arca, Laura D’Erasmo, Giuliano Boscutti, Loreto Gesualdo, Tiziano Lucchi, Tiziana Sampietro, Fabrizio Veglia, Laura Calabresi

J Lipid Res. 2020 Dec; 61(12): 1784–1788. Published online 2020 Sep 30. doi: 10.1194/jlr.P120000976

PMCID:: PMC7707181

Article PDF–646K

Select item 54086174.

Depletion in LpA-I:A-II particles enhances HDL-mediated endothelial protection in familial LCAT deficiency

Monica Gomaraschi, Alice Ossoli, Samuela Castelnuovo, Sara Simonelli, Chiara Pavanello, Gloria Balzarotti, Marcello Arca, Alessia Di Costanzo, Tiziana Sampietro, Gaetano Vaudo, Damiano Baldassarre, Fabrizio Veglia, Guido Franceschini, Laura Calabresi

J Lipid Res. 2017 May; 58(5): 994–1001. Published online 2017 Apr 28. doi: 10.1194/jlr.P072371

PMCID:: PMC5408617

Article PDF–771K

Select item 48264695.

Familial Lecithin:Cholesterol Acyltransferase Deficiency: First-in-Human Treatment with Enzyme Replacement

Robert D. Shamburek, Rebecca Bakker-Arkema, Bruce J. Auerbach, Brian R. Krause, Reynold Homan, Marcelo J. Amar, Lita A. Freeman, Alan T. Remaley

J Clin Lipidol. Author manuscript; available in PMC 2017 Mar 1.

Published in final edited form as: J Clin Lipidol. 2016 Mar-Apr; 10(2): 356–367. Published online 2015 Dec 23. doi: 10.1016/j.jacl.2015.12.007

PMCID:: PMC4826469

Article PDF–3.0M

Select item 42424446.

Defective functionality of HDL particles in familial apoA-I deficiency: relevance of alterations in HDL lipidome and proteome

Fabiana Rached, Raul D. Santos, Laurent Camont, Marcio H. Miname, Marie Lhomme, Carolane Dauteuille, Sora Lecocq, Carlos V. Serrano, Jr., M. John Chapman, Anatol Kontush

J Lipid Res. 2014 Dec; 55(12): 2509–2520. doi: 10.1194/jlr.M051631

PMCID:: PMC4242444

Article PDF–1.1M

Select item 33610817.

Novel missense variants in LCAT and APOB genes in an Italian kindred with familial lecithin:cholesterol acyltransferase deficiency and hypobetalipoproteinemia

Paola Conca, Silvana Pileggi, Sara Simonelli, Emanuela Boer, Giuliano Boscutti, Lucia Magnolo, Patrizia Tarugi, Silvana Penco, Guido Franceschini, Laura Calabresi, Monica Gomaraschi

J Clin Lipidol. 2012 May; 6(3): 244–250. doi: 10.1016/j.jacl.2012.01.006

PMCID:: PMC3361081

Article

Select item 17685728.

Up regulation of C3, C4, and soluble intercellular adhesion molecule-1 co-expresses with high sensitivity C reactive protein in familial hypoalphalipoproteinaemia: further evidence of inflammatory activation

T Sampietro, F Bigazzi, B Dal Pino, G Rossi, E Chella, S Lusso, M Puntoni, M Tuoni, A Bionda

Heart. 2004 Dec; 90(12): 1438–1442. doi: 10.1136/hrt.2003.017327

PMCID:: PMC1768572

Article PDF–171K

Select item 16852149.

Detection of heterozygotes for familial lecithin: cholesterol acyltransferase (LCAT) deficiency.

J Frohlich, K Hon, R McLeod

Am J Hum Genet. 1982 Jan; 34(1): 65–72.

PMCID:: PMC1685214

Summary Page Browse PDF–872K

Select item 137804110.

Evidence of linkage of familial hypoalphalipoproteinemia to a novel locus on chromosome 11q23.

E N Kort, D G Ballinger, W Ding, S C Hunt, B R Bowen, V Abkevich, K Bulka, B Campbell, C Capener, A Gutin, K Harshman, M McDermott, T Thorne, H Wang, B Wardell, J Wong, P N Hopkins, M Skolnick, M Samuels

Am J Hum Genet. 2000 Jun; 66(6): 1845–1856. Published online 2000 Apr 17. doi: 10.1086/302945

PMCID:: PMC1378041

Summary PDF–224K

Select item 50048211.

The pathology of cornea in Tangier disease (familial high density lipoprotein deficiency).

A F Winder, R Alexander, A Garner, D Johnston, D Vallance, G McCreanor, J Frohlich

J Clin Pathol. 1996 May; 49(5): 407–410. doi: 10.1136/jcp.49.5.407

PMCID:: PMC500482

Summary Page Browse PDF–1.6M

Select item 28811912.

In vivo metabolism of a mutant form of apolipoprotein A-I, apo A-IMilano, associated with familial hypoalphalipoproteinemia.

P Roma, R E Gregg, M S Meng, R Ronan, L A Zech, G Franceschini, C R Sirtori, H B Brewer, Jr

J Clin Invest. 1993 Apr; 91(4): 1445–1452. doi: 10.1172/JCI116349

PMCID:: PMC288119

Summary Page Browse PDF–1.5M

Select item 28800913.

Genetic and phenotypic heterogeneity in familial lecithin: cholesterol acyltransferase (LCAT) deficiency. Six newly identified defective alleles further contribute to the structural heterogeneity in this disease.

H Funke, A von Eckardstein, P H Pritchard, A E Hornby, H Wiebusch, C Motti, M R Hayden, C Dachet, B Jacotot, U Gerdes, et al.

J Clin Invest. 1993 Feb; 91(2): 677–683. doi: 10.1172/JCI116248

PMCID:: PMC288009

Summary Page Browse PDF–1.6M

Select item 1104338014.

The association of ALT to HDL-C ratio with type 2 diabetes in 50–74 years old adults: a population-based study

Abolfazl Emamian, Mohammad Hassan Emamian, Hassan Hashemi, Akbar Fotouhi

Sci Rep. 2024; 14: 9390. Published online 2024 Apr 24. doi: 10.1038/s41598-024-60092-9

PMCID:: PMC11043380

Article PDF–1.0M

Select item 1102463215.

Association of a genetic variant in angiopoietin‐like 3 with serum HDL‐C and risk of cardiovascular disease: A study of the MASHAD cohort over 6 years

Malihe Aghasizadeh, Asieh Ahmadi Hoseini, Reza Sahebi, Tooba Kazemi, Parisa Asadiyan‐Sohan, Habibollah Esmaily, Sara Samadi, Amir Avan, Gordon A. Ferns, Saeede Khosravi, Hamideh Ghazizadeh, Ebrahim Miri‐Moghaddam, Majid Ghayour‐Mobarhan

Mol Genet Genomic Med. 2024 Apr; 12(4): e2418. Published online 2024 Apr 17. doi: 10.1002/mgg3.2418

PMCID:: PMC11024632

Article PDF–634K

Select item 1100253216.

Association of Three Novel Inflammatory Markers: Lymphocyte to HDL‐C Ratio, High‐Sensitivity C‐Reactive Protein to HDL‐C Ratio and High‐Sensitivity C‐Reactive Protein to Lymphocyte Ratio With Metabolic Syndrome

Rana Kolahi Ahari, Nazanin Akbari, Negin Babaeepoor, Zahra Fallahi, Sara Saffar Soflaei, Gordon Ferns, Mahmoud Ebrahimi, Mohsen Moohebati, Habibollah Esmaily, Majid Ghayour‐Mobarhan

Endocrinol Diabetes Metab. 2024 May; 7(3): e00479. Published online 2024 Apr 8. doi: 10.1002/edm2.479

PMCID:: PMC11002532

Article PDF–516K

Select item 1096144017.

Association between HDL-C and chronic pain: data from the NHANES database 2003–2004

Panpan Mi, Haoran Dong, Shengle Chen, Xuan Gao, Xu Cao, Yong Liu, Huijie Wang, Guofeng Fan

Front Med (Lausanne) 2024; 11: 1340037. Published online 2024 Mar 11. doi: 10.3389/fmed.2024.1340037

PMCID:: PMC10961440

Article PDF–1.0M

Select item 1092317618.

Comprehensive genetic study of the insulin resistance marker TG:HDL-C in the UK Biobank

Antonino Oliveri, Ryan J Rebernick, Annapurna Kuppa, Asmita Pant, Yanhua Chen, Xiaomeng Du, Kelly C. Cushing, Hannah N Bell, Chinmay Raut, Ponnandy Prabhu, Vincent L. Chen, Brian D. Halligan, Elizabeth K. Speliotes

Nat Genet. Author manuscript; available in PMC 2024 Mar 8.

Published in final edited form as: Nat Genet. 2024 Feb; 56(2): 212–221. Published online 2024 Jan 10. doi: 10.1038/s41588-023-01625-2

PMCID:: PMC10923176

Article PDF–1.5M

Select item 1091872719.

Association between HDL‐C and intensive blood pressure control in patients with hypertension: A post‐hoc analysis of SPRINT

Rufei Liu, Wenli Cheng

J Clin Hypertens (Greenwich) 2024 Mar; 26(3): 225–234. Published online 2024 Feb 6. doi: 10.1111/jch.14754

PMCID:: PMC10918727

Article PDF–732K

Select item 1089389120.

Familial LCAT Deficiency and Low HDL-C Levels: In silico Characterization of Two Rare LCAT Missense Mutations

Sebastian Ciro Acosta, Lorena Díaz-Ordóñez, Juan David Gutierrez-Medina, Yisther Katherine Silva-Cuero, Luis Guillermo Arango-Vélez, Andrés Octavio García-Trujillo, Harry Pachajoa

Appl Clin Genet. 2024; 17: 23–32. Published online 2024 Feb 20. doi: 10.2147/TACG.S438135