{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T23:07:48Z","timestamp":1792796868170,"version":"4.5.0"},"reference-count":64,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2023,2,1]],"date-time":"2023-02-01T00:00:00Z","timestamp":1675209600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,2,1]],"date-time":"2023-02-01T00:00:00Z","timestamp":1675209600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,12,12]],"date-time":"2023-12-12T00:00:00Z","timestamp":1702339200000},"content-version":"vor","delay-in-days":314,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,2,1]],"date-time":"2023-02-01T00:00:00Z","timestamp":1675209600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2023,2,1]],"date-time":"2023-02-01T00:00:00Z","timestamp":1675209600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2023,2,1]],"date-time":"2023-02-01T00:00:00Z","timestamp":1675209600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2023,2,1]],"date-time":"2023-02-01T00:00:00Z","timestamp":1675209600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2023,2,1]],"date-time":"2023-02-01T00:00:00Z","timestamp":1675209600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/501100002322","name":"Coordena\u00e7\u00e3o de Aperfei\u00e7oamento de Pessoal de N\u00edvel Superior","doi-asserted-by":"publisher","award":["24618713.0.3001.0067"],"award-info":[{"award-number":["24618713.0.3001.0067"]}],"id":[{"id":"10.13039\/501100002322","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002322","name":"Coordena\u00e7\u00e3o de Aperfei\u00e7oamento de Pessoal de N\u00edvel Superior","doi-asserted-by":"publisher","award":["CAAE 24618713.0.0000.5462"],"award-info":[{"award-number":["CAAE 24618713.0.0000.5462"]}],"id":[{"id":"10.13039\/501100002322","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002322","name":"Coordena\u00e7\u00e3o de Aperfei\u00e7oamento de Pessoal de N\u00edvel Superior","doi-asserted-by":"publisher","award":["24618713.0.1001.5462"],"award-info":[{"award-number":["24618713.0.1001.5462"]}],"id":[{"id":"10.13039\/501100002322","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003593","name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico","doi-asserted-by":"publisher","award":["447120\/2014-0"],"award-info":[{"award-number":["447120\/2014-0"]}],"id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001807","name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado de S\u00e3o Paulo","doi-asserted-by":"publisher","award":["2016\/12899-6"],"award-info":[{"award-number":["2016\/12899-6"]}],"id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Gene"],"published-print":{"date-parts":[[2023,2]]},"DOI":"10.1016\/j.gene.2022.147084","type":"journal-article","created":{"date-parts":[[2022,12,1]],"date-time":"2022-12-01T13:46:13Z","timestamp":1669902373000},"page":"147084","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":12,"special_numbering":"C","title":["LDLR missense variants disturb structural conformation and LDLR activity in T-lymphocytes of Familial hypercholesterolemia patients"],"prefix":"10.1016","volume":"853","author":[{"given":"Thais Kristini Almendros","family":"Barbosa","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosario Dominguez Crespo","family":"Hirata","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Glaucio Monteiro","family":"Ferreira","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00e9ssica Bassani","family":"Borges","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victor Fernandes de","family":"Oliveira","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renata","family":"Gorj\u00e3o","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisangela Rodrigues da Silva","family":"Mar\u00e7al","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rodrigo Marques","family":"Gon\u00e7alves","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andr\u00e9 Arpad","family":"Faludi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renata Caroline Costa de","family":"Freitas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carolina","family":"Dagli-Hernandez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raul Hernandes","family":"Bortolin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gisele Medeiros","family":"Bastos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tania Cristina","family":"Pithon-Curi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helena Bonciani","family":"Nader","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mario Hiroyuki","family":"Hirata","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"6","key":"10.1016\/j.gene.2022.147084_b0005","doi-asserted-by":"crossref","first-page":"739","DOI":"10.1590\/S0100-879X1999000600009","article-title":"The Lebanese mutation as an important cause of familial hypercholesterolemia in Brazil","volume":"32","author":"Alberto","year":"1999","journal-title":"Braz. J. Med. Biol. Res."},{"issue":"10","key":"10.1016\/j.gene.2022.147084_b0010","first-page":"2508","article-title":"Phenotypical, Clinical, and Molecular Aspects of Adults and Children With Homozygous Familial Hypercholesterolemia in Iberoamerica","volume":"40","author":"Alves","year":"2020","journal-title":"Arterioscler. Thromb. Vasc. Biol."},{"key":"10.1016\/j.gene.2022.147084_b0015","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1016\/j.atherosclerosis.2021.06.001","article-title":"LDLR variants functional characterization: Contribution to variant classification","volume":"329","author":"Alves","year":"2021","journal-title":"Atherosclerosis"},{"issue":"11","key":"10.1016\/j.gene.2022.147084_b0020","doi-asserted-by":"crossref","first-page":"2248","DOI":"10.1161\/ATVBAHA.119.313051","article-title":"Functional analysis of LDLR (Low-Density Lipoprotein Receptor) variants in patient lymphocytes to assess the effect of evinacumab in homozygous Familial Hypercholesterolemia patients with a spectrum of LDLR Activity","volume":"39","author":"Banerjee","year":"2019","journal-title":"Arterioscler. Thromb. Vasc. Biol."},{"issue":"16","key":"10.1016\/j.gene.2022.147084_b0025","doi-asserted-by":"crossref","first-page":"1752","DOI":"10.1002\/jcc.20292","article-title":"Integrated Modeling Program, Applied Chemical Theory (IMPACT)","volume":"26","author":"Banks","year":"2005","journal-title":"J. Comput. Chem."},{"issue":"12","key":"10.1016\/j.gene.2022.147084_b0030","doi-asserted-by":"crossref","first-page":"e82849","DOI":"10.1371\/journal.pone.0082849","article-title":"Applying physics-based scoring to calculate free energies of binding for single amino acid mutations in protein-protein complexes","volume":"8","author":"Beard","year":"2013","journal-title":"PLoS One"},{"issue":"2","key":"10.1016\/j.gene.2022.147084_b0035","doi-asserted-by":"crossref","first-page":"404","DOI":"10.1111\/joim.13287","article-title":"Founder effects facilitate the use of a genotyping-based approach to molecular diagnosis in Swedish patients with familial hypercholesterolaemia","volume":"290","author":"Benedek","year":"2021","journal-title":"J. Intern. Med."},{"issue":"6","key":"10.1016\/j.gene.2022.147084_b0040","doi-asserted-by":"crossref","first-page":"1676","DOI":"10.3390\/ijms19061676","article-title":"Validation of LDLr activity as a tool to improve genetic diagnosis of Familial Hypercholesterolemia: A retrospective on functional characterization of LDLr variants","volume":"19","author":"Benito-Vicente","year":"2018","journal-title":"Int. J. Mol. Sci."},{"issue":"7","key":"10.1016\/j.gene.2022.147084_b0045","doi-asserted-by":"crossref","first-page":"1347","DOI":"10.1016\/j.sapharm.2020.10.007","article-title":"Genomics, epigenomics and pharmacogenomics of familial hypercholesterolemia (FHBGEP): A study protocol","volume":"17","author":"Borges","year":"2021","journal-title":"Res. Soc. Adm. Pharm."},{"issue":"9","key":"10.1016\/j.gene.2022.147084_b0050","doi-asserted-by":"crossref","first-page":"2322","DOI":"10.1021\/ct9001015","article-title":"Staggered Mesh Ewald: An extension of the Smooth Particle-Mesh Ewald method adding great versatility","volume":"5","author":"Cerutti","year":"2009","journal-title":"J. Chem. Theory Comput."},{"key":"10.1016\/j.gene.2022.147084_b0055","doi-asserted-by":"crossref","first-page":"415","DOI":"10.2147\/VHRM.S314704","article-title":"Variable and severe phenotypic expression of the \u201cLebanese allele\u201d in two sisters with Familial Hypercholesterolemia","volume":"17","author":"Chahine","year":"2021","journal-title":"Vasc. Health Risk Manag."},{"key":"10.1016\/j.gene.2022.147084_b0060","doi-asserted-by":"crossref","DOI":"10.1016\/j.jlr.2021.100062","article-title":"Lipoprotein metabolism in familial hypercholesterolemia","volume":"62","author":"Chemello","year":"2021","journal-title":"J. Lipid Res."},{"issue":"6","key":"10.1016\/j.gene.2022.147084_b0065","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1038\/gim.2017.151","article-title":"Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and implications for familial hypercholesterolemia diagnosis","volume":"20","author":"Chora","year":"2018","journal-title":"Genet. Med."},{"issue":"12","key":"10.1016\/j.gene.2022.147084_b0070","doi-asserted-by":"crossref","first-page":"9279","DOI":"10.1007\/s11033-020-06014-0","article-title":"Cascade screening and genetic diagnosis of familial hypercholesterolemia in clusters of the Southeastern region from Brazil","volume":"47","author":"de Paiva Silvino","year":"2020","journal-title":"Mol. Biol. Rep."},{"issue":"1","key":"10.1016\/j.gene.2022.147084_b0075","doi-asserted-by":"crossref","first-page":"219","DOI":"10.3390\/jcm9010219","article-title":"A real-world experience of clinical, biochemical and genetic assessment of patients with homozygous Familial Hypercholesterolemia","volume":"9","author":"Di Taranto","year":"2020","journal-title":"J. Clin. Med."},{"issue":"4","key":"10.1016\/j.gene.2022.147084_b0080","doi-asserted-by":"crossref","first-page":"e018263","DOI":"10.1161\/JAHA.120.018263","article-title":"Patients with LDLR and PCSK9 gene variants experienced higher incidence of cardiovascular outcomes in heterozygous Familial Hypercholesterolemia","volume":"10","author":"Doi","year":"2021","journal-title":"J. Am. Heart Assoc."},{"issue":"1","key":"10.1016\/j.gene.2022.147084_b0085","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1002\/humu.21630","article-title":"Functional characterization of splicing and ligand-binding domain variants in the LDL receptor","volume":"33","author":"Etxebarria","year":"2012","journal-title":"Hum. Mutat."},{"issue":"2 Supl 1","key":"10.1016\/j.gene.2022.147084_b0090","first-page":"1","article-title":"Atualiza\u00e7\u00e3o da Diretriz Brasileira de Dislipidemias e Preven\u00e7\u00e3o da Aterosclerose \u2013 2017","volume":"109","author":"Faludi","year":"2017","journal-title":"Arq. Bras. Cardiol."},{"key":"10.1016\/j.gene.2022.147084_b0095","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1016\/j.atherosclerosis.2021.01.008","article-title":"Comparison of the mutation spectrum and association with pre and post treatment lipid measures of children with heterozygous familial hypercholesterolaemia (FH) from eight European countries","volume":"319","author":"Futema","year":"2021","journal-title":"Atherosclerosis"},{"issue":"19\u201320","key":"10.1016\/j.gene.2022.147084_b0100","doi-asserted-by":"crossref","first-page":"2461","DOI":"10.1007\/s00018-004-4090-3","article-title":"Low-density lipoprotein receptor structure and folding","volume":"61","author":"Gent","year":"2004","journal-title":"Cell. Mol. Life Sci."},{"issue":"22","key":"10.1016\/j.gene.2022.147084_b0105","doi-asserted-by":"crossref","first-page":"2167","DOI":"10.1161\/CIR.0000000000000297","article-title":"The Agenda for Familial Hypercholesterolemia: A Scientific Statement From the American Heart Association","volume":"132","author":"Gidding","year":"2015","journal-title":"Circulation"},{"issue":"4","key":"10.1016\/j.gene.2022.147084_b0110","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1161\/ATVBAHA.108.179564","article-title":"The LDL receptor","volume":"29","author":"Goldstein","year":"2009","journal-title":"Arterioscler. Thromb. Vasc. Biol."},{"key":"10.1016\/j.gene.2022.147084_b0115","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.atherosclerosis.2018.12.003","article-title":"Systematic prediction of familial hypercholesterolemia caused by low-density lipoprotein receptor missense mutations","volume":"281","author":"Guo","year":"2019","journal-title":"Atherosclerosis"},{"key":"10.1016\/j.gene.2022.147084_b0120","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1016\/j.gene.2018.09.028","article-title":"A review study: Computational techniques for expecting the impact of non-synonymous single nucleotide variants in human diseases","volume":"680","author":"Hassan","year":"2019","journal-title":"Gene"},{"key":"10.1016\/j.gene.2022.147084_b0125","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1186\/s12929-016-0256-1","article-title":"The genetics and screening of familial hypercholesterolaemia","volume":"23","author":"Henderson","year":"2016","journal-title":"J. Biomed. Sci."},{"key":"10.1016\/j.gene.2022.147084_b0130","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1016\/j.atherosclerosis.2019.08.004","article-title":"Impact of LDLR and PCSK9 pathogenic variants in Japanese heterozygous familial hypercholesterolemia patients","volume":"289","author":"Hori","year":"2019","journal-title":"Atherosclerosis"},{"key":"10.1016\/j.gene.2022.147084_b0135","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1016\/j.atherosclerosis.2018.08.022","article-title":"Identification of a novel LDLR disease-causing variant using capture-based next-generation sequencing screening of familial hypercholesterolemia patients in Taiwan","volume":"277","author":"Hsiung","year":"2018","journal-title":"Atherosclerosis"},{"issue":"1","key":"10.1016\/j.gene.2022.147084_b0140","doi-asserted-by":"crossref","DOI":"10.1186\/s12944-021-01536-3","article-title":"The LDLR c.501C>A is a disease-causing variant in familial hypercholesterolemia","volume":"20","author":"Hu","year":"2021","journal-title":"Lipids Health Dis."},{"issue":"5","key":"10.1016\/j.gene.2022.147084_b0145","doi-asserted-by":"crossref","first-page":"639","DOI":"10.5551\/jat.62773","article-title":"Genetic analysis in a Taiwanese cohort of 750 index patients with clinically diagnosed Familial Hypercholesterolemia","volume":"29","author":"Huang","year":"2022","journal-title":"J. Atheroscler. Thromb."},{"issue":"3","key":"10.1016\/j.gene.2022.147084_b0150","doi-asserted-by":"crossref","first-page":"684","DOI":"10.1016\/j.numecd.2021.10.025","article-title":"Association between causative mutations and response to PCSK9 inhibitor therapy in subjects with familial hypercholesterolemia: A single center real-world study","volume":"32","author":"Iannuzzo","year":"2022","journal-title":"Nutr Metab Cardiovasc Dis"},{"issue":"9","key":"10.1016\/j.gene.2022.147084_b0155","doi-asserted-by":"crossref","first-page":"887","DOI":"10.1080\/14737159.2021.1953985","article-title":"Beyond the Usual Suspects: Expanding on mutations and detection for Familial Hypercholesterolemia","volume":"21","author":"Ibrahim","year":"2021","journal-title":"Expert Rev. Mol. Diagn."},{"issue":"1","key":"10.1016\/j.gene.2022.147084_b0160","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1016\/j.atherosclerosis.2014.11.009","article-title":"Familial hypercholesterolemia in Brazil: cascade screening program, clinical and genetic aspects","volume":"238","author":"Jannes","year":"2015","journal-title":"Atherosclerosis"},{"key":"10.1016\/j.gene.2022.147084_b0165","doi-asserted-by":"crossref","first-page":"531658","DOI":"10.1155\/2013\/531658","article-title":"Quality assessment of the genetic test for familial hypercholesterolemia in the Netherlands","volume":"2013","author":"Kindt","year":"2013","journal-title":"Cholesterol."},{"issue":"1","key":"10.1016\/j.gene.2022.147084_b0170","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1016\/S0021-9258(19)75941-9","article-title":"The Lebanese allele at the low density lipoprotein receptor locus. Nonsense mutation produces truncated receptor that is retained in endoplasmic reticulum","volume":"262","author":"Lehrman","year":"1987","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.gene.2022.147084_b0175","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1016\/j.atherosclerosis.2021.02.022","article-title":"Molecular genetic testing for autosomal dominant hypercholesterolemia in 29,449 Norwegian index patients and 14,230 relatives during the years 1993\u20132020","volume":"322","author":"Leren","year":"2021","journal-title":"Atherosclerosis"},{"issue":"2","key":"10.1016\/j.gene.2022.147084_b0180","first-page":"119","article-title":"Clinical, Anthropometric and Biochemical Characteristics of Patients with or without Genetically Confirmed Familial Hypercholesterolemia","volume":"110","author":"Lorenzo","year":"2018","journal-title":"Arq. Bras. Cardiol."},{"issue":"1","key":"10.1016\/j.gene.2022.147084_b0185","doi-asserted-by":"crossref","first-page":"153","DOI":"10.3390\/genes13010153","article-title":"Establishing the mutational spectrum of Hungarian patients with Familial Hypercholesterolemia","volume":"13","author":"Madar","year":"2022","journal-title":"Genes (Basel)"},{"issue":"1","key":"10.1016\/j.gene.2022.147084_b0190","doi-asserted-by":"crossref","first-page":"66","DOI":"10.3390\/genes12010066","article-title":"The LDLR, APOB, and PCSK9 variants of index patients with Familial Hypercholesterolemia in Russia","volume":"12","author":"Meshkov","year":"2021","journal-title":"Genes (Basel)"},{"issue":"1","key":"10.1016\/j.gene.2022.147084_b0195","doi-asserted-by":"crossref","first-page":"15","DOI":"10.3892\/br.2020.1391","article-title":"Identification of novel variants in the LDLR gene in Russian patients with familial hypercholesterolemia using targeted sequencing","volume":"14","author":"Miroshnikova","year":"2021","journal-title":"Biomed. Rep."},{"issue":"3","key":"10.1016\/j.gene.2022.147084_b0200","doi-asserted-by":"crossref","DOI":"10.4238\/gmr16039226","article-title":"Mutational screening in the LDLR gene among patients presenting Familial Hypercholesterolemia in the Southeast of Brazil","volume":"16","author":"Molfetta","year":"2017","journal-title":"Genet. Mol. Res."},{"issue":"2","key":"10.1016\/j.gene.2022.147084_b0205","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1002\/humu.9264","article-title":"Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR","volume":"24","author":"Mozas","year":"2004","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.gene.2022.147084_b0210","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1016\/j.atherosclerosis.2022.03.012","article-title":"Diagnosis of Familial Hypercholesterolemia in a large cohort of Italian genotyped hypercholesterolemic patients","volume":"347","author":"Noto","year":"2022","journal-title":"Atherosclerosis"},{"issue":"4","key":"10.1016\/j.gene.2022.147084_b0215","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1007\/s10930-019-09860-5","article-title":"Structure-function relationships of LDL receptor missense mutations using homology modeling","volume":"38","author":"Porntadavity","year":"2019","journal-title":"Protein J."},{"issue":"5","key":"10.1016\/j.gene.2022.147084_b0220","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"issue":"8","key":"10.1016\/j.gene.2022.147084_b0225","first-page":"1181","article-title":"Functional analysis of new variants at the low-density lipoprotein receptor associated with familial hypercholesterolemia","volume":"40","author":"Rodr\u00edguez-Jim\u00e9nez","year":"2019","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.gene.2022.147084_b0230","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1016\/j.atherosclerosis.2020.08.002","article-title":"Familial hypercholesterolemia: A single-nucleotide variant (SNV) in mosaic at the low density lipoprotein receptor (LDLR)","volume":"311","author":"Rodr\u00edguez-N\u00f3voa","year":"2020","journal-title":"Atherosclerosis"},{"issue":"2","key":"10.1016\/j.gene.2022.147084_b0235","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1016\/j.atherosclerosis.2009.11.051","article-title":"Identification and functional characterization of LDLR mutations in Familial Hypercholesterolemia patients from Southern Italy","volume":"210","author":"Romano","year":"2010","journal-title":"Atherosclerosis"},{"issue":"11","key":"10.1016\/j.gene.2022.147084_b0240","doi-asserted-by":"crossref","first-page":"2095","DOI":"10.1194\/jlr.D017772","article-title":"An improved method on stimulated T-lymphocytes to functionally characterize novel and known LDLR mutations","volume":"52","author":"Romano","year":"2011","journal-title":"J. Lipid Res."},{"issue":"3","key":"10.1016\/j.gene.2022.147084_b0245","first-page":"311","article-title":"Influence of the LDL-receptor genotype on statin response in heterozygous Familial Hypercholesterolemia: Insights from the Canadian FH registry","volume":"38","author":"Roy","year":"2022","journal-title":"Can. J. Cardiol."},{"issue":"4","key":"10.1016\/j.gene.2022.147084_b0250","doi-asserted-by":"crossref","first-page":"462","DOI":"10.1002\/humu.9032","article-title":"Molecular basis of familial hypercholesterolemia in Brazil: Identification of seven novel LDLR gene mutations","volume":"19","author":"Salazar","year":"2002","journal-title":"Hum. Mutat."},{"issue":"1","key":"10.1016\/j.gene.2022.147084_b0255","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1016\/j.jacl.2016.11.004","article-title":"Ibero-American Familial Hypercholesterolemia Network. Clinical and molecular aspects of familial hypercholesterolemia in Ibero-American countries","volume":"11","author":"Santos","year":"2017","journal-title":"J. Clin. Lipidol."},{"issue":"1","key":"10.1016\/j.gene.2022.147084_b0260","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1016\/j.atherosclerosis.2013.12.028","article-title":"Presence and type of low density lipoprotein receptor (LDLR) mutation influences the lipid profile and response to lipid-lowering therapy in Brazilian patients with heterozygous familial hypercholesterolemia","volume":"233","author":"Santos","year":"2014","journal-title":"Atherosclerosis"},{"issue":"5","key":"10.1016\/j.gene.2022.147084_b0265","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1007\/s11886-017-0848-8","article-title":"Genetic Architecture of Familial Hypercholesterolaemia","volume":"19","author":"Sharifi","year":"2017","journal-title":"Curr. Cardiol. Rep."},{"issue":"5","key":"10.1016\/j.gene.2022.147084_b0270","doi-asserted-by":"crossref","first-page":"1573","DOI":"10.1074\/jbc.M116.769430","article-title":"The proprotein convertase subtilisin\/kexin type 9-resistant R410S low density lipoprotein receptor mutation: A novel mechanism causing Familial Hypercholesterolemia","volume":"292","author":"Susan-Resiga","year":"2017","journal-title":"J. Biol. Chem."},{"issue":"1\u20132","key":"10.1016\/j.gene.2022.147084_b0275","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1016\/j.cca.2008.10.010","article-title":"A novel method for determining functional LDL receptor activity in familial hypercholesterolemia: application of the CD3\/CD28 assay in lymphocytes","volume":"400","author":"Tada","year":"2009","journal-title":"Clin. Chim. Acta"},{"issue":"4","key":"10.1016\/j.gene.2022.147084_b0280","doi-asserted-by":"crossref","first-page":"300","DOI":"10.1097\/MOL.0000000000000609","article-title":"Monogenic, polygenic, and oligogenic familial hypercholesterolemia","volume":"30","author":"Tada","year":"2019","journal-title":"Curr. Opin. Lipidol."},{"issue":"11","key":"10.1016\/j.gene.2022.147084_b0285","doi-asserted-by":"crossref","first-page":"943","DOI":"10.1007\/s00114-011-0845-5","article-title":"New contributions to the study of common double mutants in the human LDL receptor gene","volume":"98","author":"Tejedor","year":"2011","journal-title":"Naturwissenschaften"},{"issue":"2","key":"10.1016\/j.gene.2022.147084_b0290","doi-asserted-by":"crossref","first-page":"e1004855","DOI":"10.1371\/journal.pgen.1004855","article-title":"Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction","volume":"11","author":"Thormaehlen","year":"2015","journal-title":"PLoS Genet."},{"issue":"6","key":"10.1016\/j.gene.2022.147084_b0295","doi-asserted-by":"crossref","first-page":"340","DOI":"10.1089\/met.2021.0004","article-title":"The spectrum of low-density lipoprotein receptor mutations in a large Turkish cohort of patients with Familial Hypercholesterolemia","volume":"19","author":"Turkyilmaz","year":"2021","journal-title":"Metab. Syndr. Relat. Disord."},{"issue":"31","key":"10.1016\/j.gene.2022.147084_b0300","doi-asserted-by":"crossref","first-page":"3599","DOI":"10.2174\/1381612824666181009105305","article-title":"New horizons in the pathogenesis, pathophysiology and treatment of Familial Hypercholesterolaemia","volume":"24","author":"Viigimaa","year":"2018","journal-title":"Curr. Pharm. Des."},{"key":"10.1016\/j.gene.2022.147084_b0305","doi-asserted-by":"crossref","DOI":"10.3389\/fgene.2020.574474","article-title":"Genetics of Familial Hypercholesterolemia: new insights","volume":"11","author":"Vrablik","year":"2020","journal-title":"Front. Genet."},{"issue":"16","key":"10.1016\/j.gene.2022.147084_b0310","doi-asserted-by":"crossref","first-page":"e164","DOI":"10.1093\/nar\/gkq603","article-title":"ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data","volume":"38","author":"Wang","year":"2010","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.gene.2022.147084_b0315","unstructured":"World Health Organization. WHO. Human Genetics Programme. Familial Hypercholesterolaemia (FH). Report of a second WHO Consultation. Geneva; 1998."},{"issue":"39","key":"10.1016\/j.gene.2022.147084_b0320","doi-asserted-by":"crossref","first-page":"26528","DOI":"10.1074\/jbc.M804624200","article-title":"The epidermal growth factor homology domain of the LDL receptor drives lipoprotein release through an allosteric mechanism involving H190, H562, and H586","volume":"283","author":"Zhao","year":"2008","journal-title":"J. Biol. Chem."}],"container-title":["Gene"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111922009040?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111922009040?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T16:28:21Z","timestamp":1777566501000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0378111922009040"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,2]]},"references-count":64,"alternative-id":["S0378111922009040"],"URL":"https:\/\/doi.org\/10.1016\/j.gene.2022.147084","relation":{},"ISSN":["0378-1119"],"issn-type":[{"value":"0378-1119","type":"print"}],"subject":[],"published":{"date-parts":[[2023,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"LDLR missense variants disturb structural conformation and LDLR activity in T-lymphocytes of Familial hypercholesterolemia patients","name":"articletitle","label":"Article Title"},{"value":"Gene","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gene.2022.147084","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2022 Elsevier B.V.","name":"copyright","label":"Copyright"}],"article-number":"147084"}}