{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,16]],"date-time":"2026-07-16T10:54:08Z","timestamp":1784199248355,"version":"3.55.0"},"reference-count":48,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2024,3,1]],"date-time":"2024-03-01T00:00:00Z","timestamp":1709251200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,3,1]],"date-time":"2024-03-01T00:00:00Z","timestamp":1709251200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,3,1]],"date-time":"2024-03-01T00:00:00Z","timestamp":1709251200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2024,3,1]],"date-time":"2024-03-01T00:00:00Z","timestamp":1709251200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2024,3,1]],"date-time":"2024-03-01T00:00:00Z","timestamp":1709251200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2024,3,1]],"date-time":"2024-03-01T00:00:00Z","timestamp":1709251200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2024,3,1]],"date-time":"2024-03-01T00:00:00Z","timestamp":1709251200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Clinica Chimica Acta"],"published-print":{"date-parts":[[2024,3]]},"DOI":"10.1016\/j.cca.2024.117830","type":"journal-article","created":{"date-parts":[[2024,2,13]],"date-time":"2024-02-13T05:01:53Z","timestamp":1707800513000},"page":"117830","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":1,"special_numbering":"C","title":["Identification of novel genetic variations in ABCB6 and GRN genes associated with HIV-associated lipodystrophy"],"prefix":"10.1016","volume":"556","author":[{"given":"HariOm","family":"Singh","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"family":"Shyamveer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Supriya D.","family":"Mahajan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ravikumar","family":"Aalinkeel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathiravan","family":"Kaliyappan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stanley A","family":"Schwartz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meenakshi","family":"Bhattacharya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammad Khalid","family":"Parvez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammed S.","family":"Al-Dosari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"1","key":"10.1016\/j.cca.2024.117830_b0005","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1177\/0192623308327119","article-title":"The role of protease inhibitors in the pathogenesis of HIV-associated lipodystrophy: cellular mechanisms and clinical implications","volume":"37","author":"Flint","year":"2009","journal-title":"Toxicologic Pathology"},{"issue":"11","key":"10.1016\/j.cca.2024.117830_b0010","doi-asserted-by":"crossref","first-page":"4845","DOI":"10.1210\/jc.2002-020794","article-title":"Clinical review 153: Lipodystrophy in human immunodeficiency virus-infected patients","volume":"87","author":"Chen","year":"2002","journal-title":"The Journal of Clinical Endocrinology and Metabolism"},{"issue":"2","key":"10.1016\/j.cca.2024.117830_b0015","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1017\/S0954422411000138","article-title":"Nutrition and the HIV-associated lipodystrophy syndrome","volume":"25","author":"Loonam","year":"2012","journal-title":"Nutrition Research Reviews"},{"issue":"3","key":"10.1016\/j.cca.2024.117830_b0020","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1046\/j.1468-1293.2003.00159.x","article-title":"HIV lipodystrophy: prevalence, severity and correlates of risk in Australia","volume":"4","author":"Miller","year":"2003","journal-title":"HIV Medicine"},{"issue":"12","key":"10.1016\/j.cca.2024.117830_b0025","doi-asserted-by":"crossref","first-page":"1837","DOI":"10.1086\/430379","article-title":"Prevalence of, evolution of, and risk factors for fat atrophy and fat deposition in a cohort of HIV-infected men and women","volume":"40","author":"Jacobson","year":"2005","journal-title":"Clinical Infectious Diseases"},{"issue":"1","key":"10.1016\/j.cca.2024.117830_b0030","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1111\/j.1468-1293.2005.00334.x","article-title":"Pronounced lipoatrophy in HIV-infected men receiving HAART for more than 6 years compared with the background population","volume":"7","author":"Hansen","year":"2006","journal-title":"HIV Medicine"},{"issue":"2","key":"10.1016\/j.cca.2024.117830_b0035","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1097\/QAI.0b013e31819c16f4","article-title":"Lipodystrophy and metabolic disorders in HIV-1-infected adults on 4- to 9-year antiretroviral therapy in Senegal: a case-control study","volume":"51","author":"Mercier","year":"2009","journal-title":"Journal of Acquired Immune Deficiency Syndromes"},{"issue":"5","key":"10.1016\/j.cca.2024.117830_b0040","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1177\/1545109711401750","article-title":"Prevalence of lipodystrophy and dyslipidemia among patients with HIV infection on generic ART in rural South India","volume":"11","author":"Kalyanasundaram","year":"2012","journal-title":"Journal of the International Association of Physicians in AIDS Care (chicago, Ill.)"},{"issue":"2","key":"10.1016\/j.cca.2024.117830_b0045","doi-asserted-by":"crossref","first-page":"408","DOI":"10.4314\/ahs.v14i2.17","article-title":"Lipodystrophy syndrome among HIV-infected children on highly active antiretroviral therapy in northern India","volume":"14","author":"Bhutia","year":"2014","journal-title":"African Health Sciences"},{"key":"10.1016\/j.cca.2024.117830_b0050","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1097\/00002030-200001070-00006","article-title":"Effect of ritonavir on lipids and post-heparin lipase activities in normal subjects","volume":"14","author":"Purnell","year":"2000","journal-title":"AIDS"},{"issue":"1","key":"10.1016\/j.cca.2024.117830_b0055","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1056\/NEJMra041811","article-title":"Cardiovascular risk and body-fat abnormalities in HIV-infected adults","volume":"352","author":"Grinspoon","year":"2005","journal-title":"New England Journal of Medicine."},{"key":"10.1016\/j.cca.2024.117830_b0060","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1086\/498505","article-title":"Body fat and other metabolic effects of atazanavir and efavirenz, each administered in combination with zidovudine plus lamivudine, in antiretroviral-naive HIV-infected patients","volume":"42","author":"Jemsek","year":"2006","journal-title":"Clinical Infectious Diseases"},{"key":"10.1016\/j.cca.2024.117830_b0065","series-title":"Goldman\u2019s Cecil Medicine","first-page":"2196","article-title":"397 \u2013 gastrointestinal manifestations of HIV and AIDS","author":"Knox","year":"2012"},{"issue":"4","key":"10.1016\/j.cca.2024.117830_b0070","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1038\/gim.2013.138","article-title":"Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment","volume":"16","author":"Das","year":"2014","journal-title":"Genetics in Medicine"},{"issue":"6","key":"10.1016\/j.cca.2024.117830_b0075","doi-asserted-by":"crossref","first-page":"e3493","DOI":"10.1002\/jgm.3493","article-title":"Effect of genetic variations in drug transporters, metabolising enzyme and regulatory genes on the development of HIV-associated lipodystrophy","volume":"25","author":"Shyamveer","year":"2023","journal-title":"The Journal of Gene Medicine"},{"issue":"7","key":"10.1016\/j.cca.2024.117830_b0080","doi-asserted-by":"crossref","first-page":"1014","DOI":"10.1016\/j.metabol.2013.01.020","article-title":"Altered relationship of plasma triglycerides to HDL cholesterol in patients with HIV\/HAART-associated dyslipidemia: further evidence for a unique form of metabolic syndrome in HIV patients","volume":"62","author":"Vu","year":"2013","journal-title":"Metabolism"},{"issue":"12","key":"10.1016\/j.cca.2024.117830_b0085","doi-asserted-by":"crossref","first-page":"1277","DOI":"10.1016\/S0022-2275(20)34443-6","article-title":"Plasma lipoproteins: apolipoprotein structure and function","volume":"25","author":"Mahley","year":"1984","journal-title":"Journal of Lipid Research"},{"issue":"Pt 6","key":"10.1016\/j.cca.2024.117830_b0090","doi-asserted-by":"crossref","first-page":"498","DOI":"10.1258\/acb.2011.011111","article-title":"Apolipoproteins: metabolic role and clinical biochemistry applications","volume":"48","author":"Dominiczak","year":"2011","journal-title":"Annals of Clinical Biochemistry"},{"key":"10.1016\/j.cca.2024.117830_b0095","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1186\/s12986-020-00478-4","article-title":"The impact of ATP-binding cassette transporters on metabolic diseases","volume":"17","author":"Ye","year":"2020","journal-title":"Nutr Metab (lond)"},{"issue":"4","key":"10.1016\/j.cca.2024.117830_b0100","doi-asserted-by":"crossref","first-page":"589","DOI":"10.3390\/molecules22040589","article-title":"ABC Transport Proteins in Cardiovascular Disease-A Brief Summary","volume":"22","author":"Schumacher","year":"2017","journal-title":"Molecules"},{"key":"10.1016\/j.cca.2024.117830_b0105","article-title":"The Role of ABC Transporters in Lipid Metabolism and the Comorbid Course of Chronic Obstructive Pulmonary Disease and Atherosclerosis","volume":"22(13):6711","author":"Kotlyarov","year":"2021","journal-title":"International Journal of Molecular Sciences"},{"issue":"12","key":"10.1016\/j.cca.2024.117830_b0110","doi-asserted-by":"crossref","first-page":"7871","DOI":"10.1074\/jbc.M114.605386","article-title":"Functional coupling of ATP-binding cassette transporter Abcb6 to cytochrome P450 expression and activity in liver","volume":"290","author":"Chavan","year":"2015","journal-title":"The Journal of Biological Chemistry"},{"issue":"1","key":"10.1016\/j.cca.2024.117830_b0115","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s12950-023-00327-0","article-title":"Progranulin (PGRN) as a regulator of inflammation and a critical factor in the immunopathogenesis of cardiovascular diseases","volume":"20","author":"Saeedi-Boroujeni","year":"2023","journal-title":"Journal of Inflammation (london)"},{"key":"10.1016\/j.cca.2024.117830_b0120","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1016\/j.atherosclerosis.2009.02.017","article-title":"Progranulin expression in advanced human atherosclerotic plaque","volume":"206","author":"Kojima","year":"2009","journal-title":"Atherosclerosis"},{"key":"10.1016\/j.cca.2024.117830_b0125","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1016\/j.cytogfr.2022.07.008","article-title":"The impact of adipokines on vascular networks in adipose tissue","volume":"69","author":"Vliora","year":"2023","journal-title":"Cytokine & Growth Factor Reviews"},{"issue":"7","key":"10.1016\/j.cca.2024.117830_b0130","doi-asserted-by":"crossref","first-page":"999","DOI":"10.1177\/135965350701200714","article-title":"Toxicogenetics of antiretroviral therapy: genetic factors that contribute to metabolic complications","volume":"12","author":"Tarr","year":"2007","journal-title":"Antiviral Therapy"},{"issue":"6164","key":"10.1016\/j.cca.2024.117830_b0135","doi-asserted-by":"crossref","first-page":"1367","DOI":"10.1126\/science.1243490","article-title":"Exonic transcription factor binding directs codon choice and affects protein evolution","volume":"342","author":"Stergachis","year":"2013","journal-title":"Science"},{"key":"10.1016\/j.cca.2024.117830_b0140","doi-asserted-by":"crossref","unstructured":"Pagani F, Raponi M, Baralle FE. Synonymous mutations in CFTR exon 12 affect splicing and are not neutral in evolution. Proc Natl Acad Sci U S A. 2005 3 May;102(18):6368-72.","DOI":"10.1073\/pnas.0502288102"},{"issue":"2","key":"10.1016\/j.cca.2024.117830_b0145","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1038\/nsmb.2466","article-title":"Evolutionary conservation of codon optimality reveals hidden signatures of co-translational folding","volume":"20","author":"Pechmann","year":"2013","journal-title":"Nature Structural & Molecular Biology"},{"issue":"6","key":"10.1016\/j.cca.2024.117830_b0150","doi-asserted-by":"crossref","first-page":"1111","DOI":"10.1016\/j.cell.2015.02.029","article-title":"Codon optimality is a major determinant of mRNA stability","volume":"160","author":"Presnyak","year":"2015","journal-title":"Cell"},{"issue":"1","key":"10.1016\/j.cca.2024.117830_b0155","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1038\/nrg2899","article-title":"Synonymous but not the same: the causes and consequences of codon bias","volume":"12","author":"Plotkin","year":"2011","journal-title":"Nat Rev Genet."},{"key":"10.1016\/j.cca.2024.117830_b0160","doi-asserted-by":"crossref","unstructured":"Shabalina SA, Spiridonov NA, Kashina A. Sounds of silence: synonymous nucleotides as a key to biological regulation and complexity. Nucleic Acids Res. 2013 1 February;41(4):2073-94.","DOI":"10.1093\/nar\/gks1205"},{"issue":"7586","key":"10.1016\/j.cca.2024.117830_b0165","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1038\/nature16509","article-title":"Codon influence on protein expression in E. coli correlates with mRNA levels","volume":"529","author":"Bo\u00ebl","year":"2016","journal-title":"Nature"},{"issue":"5","key":"10.1016\/j.cca.2024.117830_b0170","doi-asserted-by":"crossref","first-page":"298","DOI":"10.1016\/j.gpb.2016.03.008","article-title":"Pharmacogenomics of Drug Metabolizing Enzymes and Transporters: Relevance to Precision Medicine","volume":"14","author":"Ahmed","year":"2016","journal-title":"Genomics, Proteomics & Bioinformatics"},{"issue":"7","key":"10.1016\/j.cca.2024.117830_b0175","doi-asserted-by":"crossref","first-page":"531","DOI":"10.2174\/1389202920666191107153734","article-title":"Identification of Two Novel Mutations in the ATM Gene from Patients with Ataxia-Telangiectasia by Whole Exome Sequencing","volume":"20","author":"Heidari","year":"2019","journal-title":"Current Genomics"},{"issue":"4","key":"10.1016\/j.cca.2024.117830_b0180","doi-asserted-by":"crossref","first-page":"e0250328","DOI":"10.1371\/journal.pone.0250328","article-title":"Prevalence of dyslipidaemia among HIV-infected patients receiving combination antiretroviral therapy in North Shewa, Ethiopia","volume":"16","author":"Fiseha","year":"2021","journal-title":"PLoS One1"},{"issue":"1","key":"10.1016\/j.cca.2024.117830_b0185","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1186\/s12889-023-15321-7","article-title":"Prevalence and risk factors of cardiovascular disease among people living with HIV in the Asia-Pacific region: a systematic review","volume":"23","author":"Ruamtawee","year":"2023","journal-title":"BMC Public Health"},{"key":"10.1016\/j.cca.2024.117830_b0190","doi-asserted-by":"crossref","first-page":"4500","DOI":"10.1210\/jc.2016-2466","article-title":"The diagnosis and management of lipodystrophy syndromes: Amulti-society practice guideline","volume":"101","author":"Brown","year":"2016","journal-title":"The Journal of Clinical Endocrinology and Metabolism"},{"key":"10.1016\/j.cca.2024.117830_b0195","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1016\/j.metabol.2017.04.010","article-title":"ClinicalPresentations, Metabolic Abnormalities and End-Organ Complications inPatients with Familial Partial Lipodystrophy","volume":"72","author":"Akinci","year":"2017","journal-title":"Metabolism"},{"key":"10.1016\/j.cca.2024.117830_b0200","doi-asserted-by":"crossref","first-page":"5120","DOI":"10.1210\/jc.2018-02730","article-title":"Comorbidities and Survival in Patients With Lipodystrophy: An International Chart Review Study","volume":"104","author":"Akinci","year":"2019","journal-title":"The Journal of Clinical Endocrinology and Metabolism"},{"key":"10.1016\/j.cca.2024.117830_b0205","first-page":"715","article-title":"Gene-geneand gene-environment interactions in lipodystrophy: Lessons learnedfrom natural PPAR\u03b3 mutants","author":"Broekema","year":"1864","journal-title":"Biochim. Biophys. Acta (BBA)-Mol. Cell Biol. Lipids."},{"key":"10.1016\/j.cca.2024.117830_b0210","doi-asserted-by":"crossref","first-page":"714","DOI":"10.1038\/nature09266","article-title":"From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus","volume":"466","author":"Musunuru","year":"2010","journal-title":"Nature"},{"issue":"10","key":"10.1016\/j.cca.2024.117830_b0215","doi-asserted-by":"crossref","first-page":"683","DOI":"10.1038\/nrg3051","article-title":"Understanding the contribution of synonymous mutations to human disease","volume":"12","author":"Sauna","year":"2011","journal-title":"Nature Reviews. Genetics"},{"issue":"5343","key":"10.1016\/j.cca.2024.117830_b0220","doi-asserted-by":"crossref","first-page":"1580","DOI":"10.1126\/science.278.5343.1580","article-title":"Variations on a theme: cataloging human DNA sequence variation","volume":"278","author":"Collins","year":"1997","journal-title":"Science"},{"issue":"11","key":"10.1016\/j.cca.2024.117830_b0225","doi-asserted-by":"crossref","first-page":"745","DOI":"10.1038\/nrg3031","article-title":"Exome sequencing as a tool for Mendelian disease gene discovery","volume":"12","author":"Bamshad","year":"2011","journal-title":"Nature Reviews. Genetics"},{"issue":"2","key":"10.1016\/j.cca.2024.117830_b0230","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1016\/j.tig.2014.11.003","article-title":"Human knockout research: new horizons and opportunities","volume":"31","author":"Alkuraya","year":"2015","journal-title":"Trends in Genetics"},{"issue":"4","key":"10.1016\/j.cca.2024.117830_b0235","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1016\/j.molmed.2016.02.006","article-title":"Human Knockout Carriers: Dead, Diseased, Healthy, or Improved?","volume":"22","author":"Narasimhan","year":"2016","journal-title":"Trends in Molecular Medicine"},{"key":"10.1016\/j.cca.2024.117830_b0240","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.smim.2017.12.008","article-title":"Human genetics of infectious diseases: Unique insights into immunological redundancy","volume":"36","author":"Casanova","year":"2018","journal-title":"Seminars in Immunology"}],"container-title":["Clinica Chimica Acta"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0009898124000718?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0009898124000718?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,5,19]],"date-time":"2024-05-19T02:55:18Z","timestamp":1716087318000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0009898124000718"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,3]]},"references-count":48,"alternative-id":["S0009898124000718"],"URL":"https:\/\/doi.org\/10.1016\/j.cca.2024.117830","relation":{},"ISSN":["0009-8981"],"issn-type":[{"value":"0009-8981","type":"print"}],"subject":[],"published":{"date-parts":[[2024,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Identification of novel genetic variations in ABCB6 and GRN genes associated with HIV-associated lipodystrophy","name":"articletitle","label":"Article Title"},{"value":"Clinica Chimica Acta","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.cca.2024.117830","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 Published by Elsevier B.V.","name":"copyright","label":"Copyright"}],"article-number":"117830"}}