Genética de las dislipemias primarias

Civeira-Marín M, Cenarro A, Marco-Benedí V, Bea AM, Mateo-Gallego R, Moreno-Franco B, Ordovás JM, Laclaustra M, Civeira F, Lamiquiz-Moneo I. APOE Genotypes Modulate Inflammation Independently of Their Effect on Lipid Metabolism. Int J Mol Sci. 2022 Oct
26;23(21):12947. FI: 6.208

Civeira F, Arca M, Cenarro A, Hegele RA. A mechanism-based operational definition and classification of hypercholesterolemia. J Clin Lipidol. 2022 NovDec;16(6):813-821. FI: 5.365

Marco-Benedí V, Bea AM, Cenarro A, Jarauta E, Laclaustra M, Civeira F. Current causes of death in familial hypercholesterolemia. Lipids Health Dis. 2022 Aug 2;21(1):64. FI: 4.321

Ramos-Cáceres M, Lamiquiz-Moneo I, Cenarro A, Calmarza P, Marco-Benedí V, Bea AM, Mateo-Gallego R, Puzo J, Ordovas JM, Civeira F, Laclaustra M. Triglyceride Metabolism Modifies Lipoprotein(a) Plasma Concentration. J Clin Endocrinol Metab. 2022 Aug 18;107(9):e3594-e3602. FI: 6.134 

Benito-Vicente A, Uribe KB, Larrea-Sebal A, Palacios L, Cenarro A, Calle X, Galicia-Garcia U, Jebari-Benslaiman S, Sánchez-Hernández RM, Stef M, Lambert G, Civeira F, Martín C. Leu22_Leu23 Duplication at the Signal Peptide of PCSK9 Promotes Intracellular Degradation of LDLr and
Autosomal Dominant Hypercholesterolemia. Arterioscler
Thromb Vasc Biol. 2022 Jul;42(7):e203-e216. FI: 10.514

Baila-Rueda L, Cenarro A, Lamiquiz-Moneo I, Marco-Benedi V, Gracia-Rubio I, Casamayor-Franco MC, Arbones-Mainar JM, Civeira F, Laclaustra M. Association of Cholesterol and Oxysterols in Adipose Tissue With Obesity and Metabolic Syndrome Traits. J Clin Endocrinol Metab. 2022 Aug 18;107(9):e3929-e3936. FI: 6.134 

Lamiquiz-Moneo I, Pérez-Calahorra S, Gracia-Rubio I, Cebollada A, Bea AM, Fumanal A, Ferrer-Mairal A, Prieto-Martín A, Sanz-Fernández ML, Cenarro A, Civeira F, Mateo-Gallego R. Effect of the Consumption of Alcohol-Free Beers with Different Carbohydrate Composition on Postprandial Metabolic Response. Nutrients. 2022 Feb 28;14(5):1046. FI: 6.706

Grau-Perez M, Caballero-Mateos MJ, Domingo-Relloso A, Navas-Acien A, Gomez-Ariza JL, Garcia-Barrera
T, Leon-Latre M, Soriano-Gil Z, Jarauta E, Cenarro A, Moreno-Franco B, Laclaustra M, Civeira F, Casasnovas JA, Guallar E, Tellez-Plaza M. Toxic Metals and
Subclinical Atherosclerosis in Carotid, Femoral, and Coronary Vascular Territories: The Aragon Workers
Health Study. Arterioscler Thromb Vasc Biol. 2022 Jan;42(1):87-99. FI: 10.514

Larrea-Sebal A, Benito-Vicente A, Fernandez-Higuero JA, Jebari-Benslaiman S, Galicia-Garcia U, Uribe KB, Cenarro
A, Ostolaza H, Civeira F, Arrasate S, González-Díaz H, Martín C. MLb-LDLr: A Machine Learning Model for Predicting
the Pathogenicity of LDLr Missense Variants. JACC Basic Transl Sci. 2021 Nov 22;6(11):815-827. FI: 9.531

Marco-Benedí V, Cenarro A, Laclaustra M, Larrea-Sebal A, Jarauta E, Lamiquiz-Moneo I, Calmarza P, Bea AM, Plana N, Pintó X, Martín C, Civeira F. Lipoprotein(a)
in hereditary hypercholesterolemia: Influence of the genetic cause, defective gene and type of mutation. Atherosclerosis. 2022 May;349:211-218. FI: 6.851

Mahmood L, González-Gil EM, Schwarz P, Herrmann S, Karaglani E, Cardon G, De Vylder F, Willems R, Makrilakis K, Liatis S, Iotova V, Tsochev K, Tankova T, Rurik I, Radó S, Moreno LA, Manios Y; Feel4Diabetes-Study Group. Frequency of family meals and food consumption in families at high risk of type 2 diabetes: the Feel4Diabetes-study. Eur J Pediatr. 2022 Jun;181(6):2523-2534. FI: 3.860

Larrea-Sebal A, Benito-Vicente A, Fernandez-Higuero JA, Jebari-Benslaiman S, Galicia-Garcia U, Uribe KB, Cenarro A, Ostolaza H, Civeira F, Arrasate S, González-Díaz H, Martín C. MLb-LDLr: A Machine Learning Model for Predicting the Pathogenicity of LDLr Missense Variants. JACC Basic Transl Sci. 2021 Nov 22;6(11):815-827.

Lumbreras S, Ricobaraza A, Baila-Rueda L, Gonzalez-Aparicio M, Mora-Jimenez L, Uriarte I, Bunuales M, Avila MA, Monte MJ, Marin JJG, Cenarro A, Gonzalez-Aseguinolaza G, Hernandez-Alcoceba R. Gene supplementation of CYP27A1 in the liver restores bile acid metabolism in a mouse model of cerebrotendinous xanthomatosis. Mol Ther Methods Clin Dev. 2021 Jul 21;22:210-221.

Marco-Benedí V, Cenarro A, Laclaustra M, Larrea-Sebal A, Jarauta E, Lamiquiz-Moneo I, Calmarza P, Bea AM, Plana N, Pintó X, Martín C, Civeira F. Lipoprotein(a) in hereditary hypercholesterolemia: Influence of the genetic cause, defective gene and type of mutation. Atherosclerosis. 2021 Aug 23:S0021-9150(21)01270-3.

Cenarro A, Bea AM, Gracia-Rubio I, Civeira F. Dysbetalipoproteinemia and other lipid abnormalities related to apo E. Clin Investig Arterioscler. 2021 May;33 Suppl 2:50-55.

Bea AM, Franco-Marín E, Marco-Benedí V, Jarauta E, Gracia-Rubio I, Cenarro A, Civeira F, Lamiquiz-Moneo I. ANGPTL3 gene variants in subjects with familial combined hyperlipidemia. Sci Rep. 2021 Mar 26;11(1):7002.

Conde de la Rosa L, Garcia-Ruiz C, Vallejo C, Baulies A, Nuñez S, Monte MJ, Marin JJG, Baila-Rueda L, Cenarro A, Civeira F, Fuster J, Garcia-Valdecasas JC, Ferrer J, Karin M, Ribas V, Fernandez-Checa JC. STARD1 promotes NASH-driven HCC by sustaining the generation of bile acids through the alternative mitocondrial pathway. J Hepatol. 2021 Jun;74(6):1429-1441.

Lamiquiz-Moneo I, Civeira F, Mateo-Gallego R, Laclaustra M, Moreno-Franco B, Tejedor MT, Palacios L, Martín C, Cenarro A. Diagnostic yield of sequencing familial hypercholesterolemia genes in individuals with primary hypercholesterolemia. Rev Esp Cardiol (Engl Ed). 2021 Aug;74(8):664-673.

2020

1: Lamiquiz-Moneo I, Mateo-Gallego R, Fernández-Pardo J, López-Ariño C, Marco-Benedí V, Bea AM, Ferraro L, Jarauta E, Cenarro A, Civeira F. Glycerol kinase deficiency in adults: Description of 4 novel cases, systematic review and development of a clinical diagnostic score. Atherosclerosis. 2020 Dec;315:24-32.

2: Huys N, Van Stappen V, Shadid S, De Craemer M, Androutsos O, Wikström K, Makrilakis K, Moreno LA, Iotova V, Tankova T, Nánási A, Manios Y, Cardon G; Feel4Diabetes-study group. Effectiveness of a family-, school- and community-based intervention on physical activity and its correlates in Belgian families with an increased risk for type 2 diabetes mellitus: the Feel4Diabetes-study. BMC Public Health. 2020 Aug 12;20(1):1231.

3: Lamiquiz-Moneo I, Civeira F, Mateo-Gallego R, Laclaustra M, Moreno-Franco B, Tejedor MT, Palacios L, Martín C, Cenarro A. Diagnostic yield of sequencing familial hypercholesterolemia genes in individuals with primary hypercholesterolemia. Rev Esp Cardiol (Engl Ed). 2020 Jul 10:S1885-5857(20)30252-8.

4: Virtanen E, Kivelä J, Wikström K, Lambrinou CP, De Miguel-Etayo P, Huys N, Vraukó-Tóth K, Moreno LA, Usheva N, Chakarova N, Rado SA, Iotova V, Makrilakis K, Cardon G, Liatis S, Manios Y, Lindström J; Feel4Diabetes research group. Feel4Diabetes healthy diet score: development and evaluation of clinical validity. BMC Endocr Disord. 2020 May 6;20(Suppl 2):46.

5: Lambrinou CP, Androutsos O, Karaglani E, Cardon G, Huys N, Wikström K, Kivelä J, Ko W, Karuranga E, Tsochev K, Iotova V, Dimova R, De Miguel-Etayo P, M González-Gil E, Tamás H, Jancsó Z, Liatis S, Makrilakis K, Manios Y; Feel4Diabetes-study group. Effective strategies for childhood obesity prevention via school based, family involved interventions: a critical review for the development of the Feel4Diabetes-study school based component. BMC Endocr Disord. 2020 May 6;20(Suppl 2):52.

6: Androutsos O, Anastasiou C, Lambrinou CP, Mavrogianni C, Cardon G, Van Stappen V, Kivelä J, Wikström K, Moreno LA, Iotova V, Tsochev K, Chakarova N, Ungvári T, Jancso Z, Makrilakis K, Manios Y; Feel4diabetes-study group. Intra-and inter- observer reliability of anthropometric measurements and blood pressure in primary schoolchildren and adults: the Feel4Diabetes-study. BMC Endocr Disord. 2020 Mar 12;20(Suppl 1):27.

7: Kivelä J, Wikström K, Virtanen E, Georgoulis M, Cardon G, Civeira F, Iotova V, Karuranga E, Ko W, Liatis S, Makrilakis K, Manios Y, Mateo-Gallego R, Nanasi A, Rurik I, Tankova T, Tsochev K, Van Stappen V, Lindström J; Feel4Diabetes research group. Obtaining evidence base for the development of Feel4Diabetes intervention to prevent type 2 diabetes – a narrative literature review. BMC Endocr Disord. 2020 Mar 12;20(Suppl 1):140.

8: Anastasiou CA, Fappa E, Zachari K, Mavrogianni C, Van Stappen V, Kivelä J, Virtanen E, González-Gil EM, Flores-Barrantes P, Nánási A, Semánová C, Dimova R, Usheva N, Iotova V, Cardon G, Manios Y, Makrilakis K; Feel4Diabetes-study group. Development and reliability of questionnaires for the assessment of diet and physical activity behaviors in a multi-country sample in Europe the Feel4Diabetes Study. BMC Endocr Disord. 2020 Mar 12;20(Suppl 1):135.

9: Kyrou I, Tsigos C, Mavrogianni C, Cardon G, Van Stappen V, Latomme J, Kivelä J, Wikström K, Tsochev K, Nanasi A, Semanova C, Mateo-Gallego R, Lamiquiz-Moneo I, Dafoulas G, Timpel P, Schwarz PEH, Iotova V, Tankova T, Makrilakis K, Manios Y; Feel4Diabetes-study Group. Sociodemographic and lifestyle-related risk factors for identifying vulnerable groups for type 2 diabetes: a narrative review with emphasis on data from Europe. BMC Endocr Disord. 2020 Mar 12;20(Suppl 1):134.

10: Manios Y, Mavrogianni C, Lambrinou CP, Cardon G, Lindström J, Iotova V, Tankova T, Civeira F, Kivelä J, Jancsó Z, Shadid S, Tsochev K, Mateo-Gallego R, Radó S, Dafoulas G, Makrilakis K, Androutsos O; Feel4Diabetes-study group. Two-stage, school and community-based population screening successfully identifies individuals and families at high-risk for type 2 diabetes: the Feel4Diabetes-study. BMC Endocr Disord. 2020 Mar 12;20(Suppl 1):12.

11: Lamiquiz-Moneo I, Restrepo-Córdoba MA, Mateo-Gallego R, Bea AM, Del Pino Alberiche-Ruano M, García-Pavía P, Cenarro A, Martín C, Civeira F, Sánchez-Hernández RM. Predicted pathogenic mutations in STAP1 are not associated with clinically defined familial hypercholesterolemia. Atherosclerosis. 2020 Jan;292:143-151.

2019

Amor A J C, M.;Mateo-Gallego, R.;Cenarro, A.;Civeira, F.;Ortega, E.;Ros, E.;Sala-Vila, A. Dietary polyunsaturated fatty acids mediate the inverse association of stearoyl-CoA desaturase activity with the risk of fatty liver in dyslipidaemic individuals.  J Nutr 2019;58(4):1561-1568. 1007/s00394-018-1691-4. ISSN:1436-6207

Bea A M L-M, I.;Marco-Benedi, V.;Mateo-Gallego, R.;Perez-Calahorra, S.;Jarauta, E.;Martin, C.;Cenarro, A.;Civeira, F. Lipid-lowering response in subjects with the p.(Leu167del) mutation in the APOE gene Atherosclerosis 2019;282:43-147. 1016/j.atherosclerosis.2019.01.024. ISSN:0021-9150

Laclaustra M M-F, B.;Lou-Bonafonte, J. M.;Mateo-Gallego, R.;Casasnovas, J. A.;Guallar-Castillon, P.;Cenarro, A.;Civeira, F. Impaired Sensitivity to Thyroid Hormones Is Associated With Diabetes and Metabolic Syndrome Diabetes Care. 2019; 42 (2              ):303-310. 10.2337/dc18-1410.ISSN:0149-5992

Lamiquiz-Moneo I C, F.;Gomez-Coronado, D.;Blanco-Vaca, F.;Villafuerte-Ledesma, H. M.;Gil, M.;Amigo, N.;Mateo-Gallego, R.;Cenarro, A. Lipid Profile Rather Than the LCAT Mutation Explains Renal Disease in Familial LCAT Deficiency. J Clin Med 2019;     8 (11). 3390/jcm8111860. ISSN:2077-0383 (Print);2077-0383

Lamiquiz-Moneo I G-G, J.;Alisente, S.;Bea, A. M.;Perez-Calahorra, S.;Marco-Benedi, V.;Baila-Rueda, L.;Jarauta, E.;Cenarro, A.;Civeira, F.;Mateo-Gallego, R. Effect of bergamot on lipid profile in humans: A systematic review.         Crit Rev Food Sci Nutr 2019;43770 1080/10408398.2019.1677554. ISSN: 1040-8398

Lamiquiz-Moneo I M-G, R.;Bea, A. M.;Dehesa-Garcia, B.;Perez-Calahorra, S.;Marco-Benedi, V.;Baila-Rueda, L.;Laclaustra, M.;Civeira, F.;Cenarro, A. Genetic predictors of weight loss in overweight and obese subjects. Sci Rep 2019; 9(1): 10770    1038/s41598-019-47283-5.ISSN:2045-2322

Lamiquiz-Moneo I R-C, M. A.;Mateo-Gallego, R.;Bea, A. M.;Del Pino Alberiche-Ruano, M.;Garcia-Pavia, P.;Cenarro, A.;Martin, C.;Civeira, F.;Sanchez-Hernandez, R. M. Predicted pathogenic mutations in STAP1 are not associated with clinically defined familial hypercholesterolemia.      Atherosclerosis 2019;       292:143-151. 10.1016/j.atherosclerosis.2019.11.025. ISSN:0021-9150.

Lutjohann D B, I.;Friedrichs, S.;Kerksiek, A.;Lovgren-Sandblom, A.;Geilenkeuser, W. J.;Ahrends, R.;Andrade, I.;Ansorena, D.;Astiasaran, I.;Baila-Rueda, L.;Barriuso, B.;Becker, S.;Bretillon, L.;Browne, R. W.;Caccia, C.;Ceglarek, U.;Cenarro, A.;Crick, P. J.;Fauler, G.;Garcia-Llatas, G.;Gray, R.;Griffiths, W. J.;Gylling, H.;Harding, S.;Helmschrodt, C.;Iuliano, L.;Janssen, H. G.;Jones, P.;Kaipiainen, L.;Kannenberg, F.;Lagarda, M. J.;Leoni, V.;Lottenberg, A. M.;MacKay, D. S.;Matysik, S.;McDonald, J.;Menendez-Carreno, M.;Myrie, S. B.;Sutti Nunes, V.;Ostlund, R. E.;Polisecki, E.;Ramos, F.;Rideout, T. C.;Schaefer, E. J.;Schmitz, G.;Wang, Y.;Zerbinati, C.;Diczfalusy, U.;Schott, H. F. First international descriptive and interventional survey for cholesterol and non-cholesterol sterol determination by gas- and liquid-chromatography-Urgent need for harmonisation of analytical methods. J Steroid Biochem Mol Biol 2019;190           :115-125         1016/j.jsbmb.2019.03.025         ISSN:0960-0760

Marco-Benedi V P-C, S.;Bea, A. M.;Lamiquiz-Moneo, I.;Baila-Rueda, L.;Cenarro, A.;Civeira, F.;Mateo-Gallego, R. High-protein energy-restricted diets induce greater improvement in glucose homeostasis but not in adipokines comparing to standard-protein diets in early-onset diabetic adults with overweight or obesity. Clin Nutr 2019; 10.1016/j.clnu.2019.06.005 ISSN:0261-5614

Mateo-Gallego R P-C, S.;Lamiquiz-Moneo, I.;Marco-Benedi, V.;Bea, A. M.;Fumanal, A. J.;Prieto-Martin, A.;Laclaustra, M.;Cenarro, A.;Civeira, F. Effect of an alcohol-free beer enriched with isomaltulose and a resistant dextrin on insulin resistance in diabetic patients with overweight or obesity. Clin Nutr 2019; 1016/j.clnu.2019.02.025. ISSN:0261-5614

Revilla G P, M. P.;Baila-Rueda, L.;Garcia-Leon, A.;Santos, D.;Cenarro, A.;Magalhaes, M.;Blanco, R. M.;Moral, A.;Ignacio Perez, J.;Sabe, G.;Gonzalez, C.;Fuste, V.;Lerma, E.;Faria, M. D. S.;de Leiva, A.;Corcoy, R.;Carles Escola-Gil, J.;Mato, E. Cholesterol and 27-hydroxycholesterol promote thyroid carcinoma aggressiveness Sci Rep 2019; 9(1): 10260 1038/s41598-019-46727-2. ISSN:2045-2322

2018

Benito-Vicente A, Uribe KB, Siddiqi H, Jebari S, Galicia-Garcia U, Larrea-Sebal A, Cenarro A, Stef M, Ostolaza H, Civeira F, Palacios L, Martin C. Replacement of cysteine at position 46 in the first cysteine-rich repeat of the LDL receptor impairs apolipoprotein recognition. PLoS One. 2018 Oct 17;13(10):e0204771. doi: 10.1371/journal.pone.0204771. eCollection 2018. PubMed PMID: 30332439; PubMed Central PMCID: PMC6192581.

Lütjohann D, Björkhem I, Friedrichs S, Kerksiek A, Geilenkeuser WJ, Lövgren-Sandblom A, Ansorena D, Astiasarán I, Baila-Rueda L, Barriuso B, Bretillon L, Browne RW, Caccia C, Cenarro A, Crick PJ, Fauler G, García-Llatas G, Griffiths WJ, Iuliano L, Lagarda MJ, Leoni V, Lottenberg AM, Matysik S, McDonald J, Rideout TC, Schmitz G, Nunes VS, Wang Y, Zerbinati C, Diczfalusy U, Schött HF. International descriptive and interventional survey for oxycholesterol determination by gas- and liquid-chromatographic methods. Biochimie. 2018 Oct;153:26-32. doi: 10.1016/j.biochi.2018.07.016. Epub 2018 Jul 29. PubMed PMID: 30063945.

Mateo-Gallego R, Lacalle L, Pérez-Calahorra S, Marco-Benedí V, Recasens V, Padrón N, Lamiquiz-Moneo I, Baila-Rueda L, Jarauta E, Calmarza P, Cenarro A, Civeira F. Efficacy of repeated phlebotomies in hypertriglyceridemia and iron overload: A prospective, randomized, controlled trial. J Clin Lipidol. 2018 Sep – Oct;12(5):1190-1198. doi: 10.1016/j.jacl.2018.06.017. Epub 2018 Jul 4. PubMed PMID: 30049591.

Amor AJ, Cofán M, Mateo-Gallego R, Cenarro A, Civeira F, Ortega E, Ros E, Sala-Vila A. Dietary polyunsaturated fatty acids mediate the inverse association of stearoyl-CoA desaturase activity with the risk of fatty liver in dyslipidaemic individuals. Eur J Nutr. 2018 Apr 19. doi: 10.1007/s00394-018-1691-4. [Epub ahead of print] PubMed PMID: 29675558.

Baila-Rueda L, Lamiquiz-Moneo I, Jarauta E, Mateo-Gallego R, Perez-Calahorra S, Marco-Benedí V, Bea AM, Cenarro A, Civeira F. Association between non-cholesterol sterol concentrations and Achilles tendon thickness in patients with genetic familial hypercholesterolemia. J Transl Med. 2018 Jan 15;16(1):6. doi: 10.1186/s12967-018-1380-3. PubMed PMID: 29334954; PubMed Central PMCID: PMC5769342.

Mateo-Gallego R, Lamiquiz-Moneo I, Perez-Calahorra S, Marco-Benedí V, Bea AM, Baila-Rueda L, Laclaustra M, Peñalvo JL, Civeira F, Cenarro A. Different protein composition of low-calorie diet differently impacts adipokine profile irrespective of weight loss in overweight and obese women. Nutr Metab Cardiovasc Dis. 2018 Feb;28(2):133-142. doi: 10.1016/j.numecd.2017.10.024. Epub 2017 Nov 4. PubMed PMID: 29329923.

Baila-Rueda L, Cenarro A, Lamiquiz-Moneo I, Perez-Calahorra S, Bea AM, Marco-Benedí V, Jarauta E, Mateo-Gallego R, Civeira F. Cholesterol oversynthesis markers define familial combined hyperlipidemia versus other genetic hypercholesterolemias independently of body weight. J Nutr Biochem. 2018 Mar;53:48-57. doi: 10.1016/j.jnutbio.2017.10.005. Epub 2017 Nov 27. PubMed PMID: 29190549.

2016

Cenarro A, Etxebarria A, de Castro-Orós I, Stef M, Bea AM, Palacios L, Mateo-Gallego R, Benito-Vicente A, Ostolaza H, Tejedor T, Martín C, Civeira F. The p.Leu167del Mutation in APOE Gene Causes Autosomal Dominant Hypercholesterolemia by Down-regulation of LDL Receptor Expression in Hepatocytes. J Clin Endocrinol Metab 101, 2113-2121 (2016)

Jarauta E, Pérez-Ruiz MR, Pérez-Calahorra S, Mateo-Gallego R, Cenarro A, Cofán M, Ros E, Civeira F, Tejedor MT. Lipid phenotype and heritage pattern in families with genetic hypercholesterolemia not related to LDLR, APOB, PCSK9, or APOE. J Clin Lipidol 10, 1397-1405 (2016)

De Castro-Orós I, Civeira F, Pueyo MJ, Mateo-Gallego R, Bolado-Carrancio A, Lamíquiz-Moneo I, Álvarez-Sala L, Fabiani F, Cofán M, Cenarro A, Rodríguez-Rey JC, Ros E, Pocoví M. Rare genetic variants with large effect on triglycerides in subjects with a clinical diagnosis of familial vs nonfamilial hypertriglyceridemia. J Clin Lipidol 10, 790-797 (2016)

Lamiquiz-Moneo I, Blanco-Torrecilla C, Bea AM, Mateo-Gallego R, Pérez-Calahorra S, Baila-Rueda L, Cenarro A, Civeira F, de Castro-Orós I. Frequency of rare mutations and common genetic variations in severe hypertriglyceridemia in the general population of Spain. Lipids Health Dis (2016) PMID: 27108409