{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,29]],"date-time":"2026-07-29T04:59:18Z","timestamp":1785301158878,"version":"3.55.0"},"reference-count":145,"publisher":"Wiley","issue":"14","license":[{"start":{"date-parts":[[2026,7,21]],"date-time":"2026-07-21T00:00:00Z","timestamp":1784592000000},"content-version":"vor","delay-in-days":20,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T00:00:00Z","timestamp":1782864000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Cellular Molecular Medi"],"published-print":{"date-parts":[[2026,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Primary carnitine deficiency (PCD) is an autosomal recessive disorder caused by mutations in the\n                    <jats:italic>SLC22A5<\/jats:italic>\n                    gene, which encodes the organic cation transporter 2 (OCTN2). These mutations impair carnitine transport and fatty acid metabolism, leading to a wide range of clinical symptoms, from mild fatigue to severe cardiomyopathy. Although over 100 mutations have been identified, the correlation between specific genotypes and pathogenicity remains unclear, necessitating further investigation into their molecular and clinical impacts. This systematic review aims to evaluate the association between\n                    <jats:italic>SLC22A5<\/jats:italic>\n                    mutations and PCD, with a focus on cardiomyopathy, to characterise the molecular and functional consequences of these variants, and to explore their implications for diagnosis, treatment, and personalised care. A systematic search of PubMed was conducted, focusing on studies reporting genetic, clinical, and biochemical data related to SLC22A5. Variants were classified according to ACMG guidelines and CADD scoring, and the data were synthesised through descriptive analyses. Most reported variants are missense mutations, accounting for approximately 80% of cases, followed by deletions (12.7%), while duplications, insertions, and deletion\u2013insertion variants are rare. According to ACMG classification, the majority of variants are pathogenic or likely pathogenic (\u224872%), with VUS comprising about 24%, and benign variants being uncommon. Exons 1 and 8 have the highest frequencies, whereas Exons 5 and 6, despite fewer variants, exhibit higher mean CADD scores, suggesting greater functional impact. The findings revealed that Exons 1 and 8 harboured the most frequent mutations, while Exons 5 and 6 showed the highest pathogenicity. Nonsense variants exhibit the highest pathogenicity and CADD scores, followed by frameshift and missense mutations. Severe truncating mutations were linked to early\u2010onset cardiomyopathy. Intronic variants are infrequent but include sites with high CADD scores, indicating potential regulatory relevance. Overall, these findings demonstrate that variant pathogenicity is influenced more by functional impact than by frequency alone.\n                  <\/jats:p>","DOI":"10.1111\/jcmm.71273","type":"journal-article","created":{"date-parts":[[2026,7,21]],"date-time":"2026-07-21T22:06:24Z","timestamp":1784671584000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["From Genotype to Phenotype: Investigating\n                    <scp>\n                      <i>SLC22A5<\/i>\n                    <\/scp>\n                    Variants and Their Significance in Carnitine Deficiency: A Systematic Review Study"],"prefix":"10.1111","volume":"30","author":[{"given":"Amir","family":"Ghaffari Jolfayi","sequence":"first","affiliation":[{"name":"Cardiovascular Research Center Rajaie Cardiovascular Institute  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahdieh","family":"Soveizi","sequence":"additional","affiliation":[{"name":"Cardiogenetic Research Center Rajaie Cardiovascular Institute  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Niloofar","family":"Naderi","sequence":"additional","affiliation":[{"name":"Cardiogenetic Research Center Rajaie Cardiovascular Institute  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amirali","family":"Soheili","sequence":"additional","affiliation":[{"name":"Cardiovascular Research Center Rajaie Cardiovascular Institute  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maryam","family":"Pourirahim","sequence":"additional","affiliation":[{"name":"Cardiogenetic Research Center Rajaie Cardiovascular Institute  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leyla","family":"Abdolkarimi","sequence":"additional","affiliation":[{"name":"Cardiovascular Research Center Rajaie Cardiovascular Institute  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Majid","family":"Maleki","sequence":"additional","affiliation":[{"name":"Cardiogenetic Research Center Rajaie Cardiovascular Institute  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3499-044X","authenticated-orcid":false,"given":"Samira","family":"Kalayinia","sequence":"additional","affiliation":[{"name":"Cardiogenetic Research Center Rajaie Cardiovascular Institute  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,7,21]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.3109\/00313028509063752"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0887-8994(90)90037-2"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.3390\/molecules25010014"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1006\/mgme.2001.3207"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.4070\/kcj.2013.43.12.785"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23315"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2892"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gky1016"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13073-021-00835-9"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkad989"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2015.09.004"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.3390\/molecules24183251"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbamcr.2016.01.023"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.2210247119"},{"key":"e_1_2_10_18_1","unstructured":"National Center for Biotechnology Information (NCBI) \u201cSLC22A5 solute carrier family 22 member 5 [Homo sapiens (human)] \u201dNCBI Gene. Available from https:\/\/www.ncbi.nlm.nih.gov\/gene\/6584. accessed July 2 2026."},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-7-68"},{"issue":"2","key":"e_1_2_10_20_1","first-page":"S8","article-title":"Primary and Secondary Carnitine Deficiency Syndromes","volume":"10","author":"Pons R.","year":"1995","journal-title":"Journal of Child Neurology"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2022.1062715"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M307911200"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-024-03267-x"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.1023\/B:BOLI.0000037339.25821.87"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.2147\/PGPM.S387767"},{"issue":"12","key":"e_1_2_10_26_1","first-page":"1483","article-title":"Preimplantation Genetic Testing for a Chinese Pedigree Affected With Primary Carnitine Deficiency","volume":"41","author":"Deng J.","year":"2024","journal-title":"Zhonghua Yi Xue Yi Chuan Xue Za Zhi"},{"key":"e_1_2_10_27_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12887-025-06250-y"},{"key":"e_1_2_10_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21311"},{"key":"e_1_2_10_29_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.70003"},{"issue":"11","key":"e_1_2_10_30_1","first-page":"1150","article-title":"Genetic Diagnosis of 10 Neonates With Primary Carnitine Deficiency","volume":"19","author":"Tan J.\u2010Q.","year":"2017","journal-title":"Zhongguo Dang Dai Er Ke Za Zhi"},{"key":"e_1_2_10_31_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg-2023-109206"},{"key":"e_1_2_10_32_1","doi-asserted-by":"publisher","DOI":"10.1097\/SCS.0000000000004595"},{"key":"e_1_2_10_33_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004399900105"},{"key":"e_1_2_10_34_1","doi-asserted-by":"publisher","DOI":"10.1002\/jmd2.12319"},{"key":"e_1_2_10_35_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.heliyon.2023.e23671"},{"key":"e_1_2_10_36_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21607"},{"key":"e_1_2_10_37_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2018.00122"},{"key":"e_1_2_10_38_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-018-23503-2"},{"key":"e_1_2_10_39_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2021.686137"},{"key":"e_1_2_10_40_1","doi-asserted-by":"publisher","DOI":"10.1002\/jmd2.12346"},{"issue":"11","key":"e_1_2_10_41_1","first-page":"1051","article-title":"Analysis of Metabolic Profile and Genetic Variants for Newborns With Primary Carnitine Deficiency From Guangxi","volume":"38","author":"Geng G.","year":"2021","journal-title":"Zhonghua Yi Xue Yi Chuan Xue Za Zhi"},{"key":"e_1_2_10_42_1","doi-asserted-by":"publisher","DOI":"10.3724\/zdxbyxb-2021-0259"},{"key":"e_1_2_10_43_1","doi-asserted-by":"publisher","DOI":"10.1002\/1098-1004(200011)16:5<401::AID-HUMU4>3.0.CO;2-J"},{"key":"e_1_2_10_44_1","doi-asserted-by":"publisher","DOI":"10.3390\/children10081341"},{"key":"e_1_2_10_45_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2009.12.015"},{"key":"e_1_2_10_46_1","doi-asserted-by":"publisher","DOI":"10.2147\/PGPM.S402760"},{"key":"e_1_2_10_47_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2019.00050"},{"key":"e_1_2_10_48_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2021.763222"},{"key":"e_1_2_10_49_1","doi-asserted-by":"publisher","DOI":"10.1111\/ped.15404"},{"key":"e_1_2_10_50_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2020.04.039"},{"key":"e_1_2_10_51_1","first-page":"1","article-title":"Biochemical and Genetic Characteristics of Patients With Primary Carnitine Deficiency Identified Through Newborn Screening","volume":"16","author":"Lin Y.","year":"2021","journal-title":"Orphanet Journal of Rare Diseases"},{"key":"e_1_2_10_52_1","first-page":"1","article-title":"Increased Detection of Primary Carnitine Deficiency Through Second\u2010Tier Newborn Genetic Screening","volume":"16","author":"Lin Y.","year":"2021","journal-title":"Orphanet Journal of Rare Diseases"},{"key":"e_1_2_10_53_1","doi-asserted-by":"publisher","DOI":"10.1136\/bcr-2018-224272"},{"key":"e_1_2_10_54_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2017.22"},{"key":"e_1_2_10_55_1","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2011_52"},{"key":"e_1_2_10_56_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20314"},{"key":"e_1_2_10_57_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20318"},{"key":"e_1_2_10_58_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2021.631688"},{"issue":"7","key":"e_1_2_10_59_1","first-page":"690","article-title":"SLC22A5 Gene Mutation Analysis and Prenatal Diagnosis for a Family With Primary Carnitine Deficiency","volume":"36","author":"Tan J.","year":"2019","journal-title":"Zhonghua Yi Xue Yi Chuan Xue Za Zhi"},{"key":"e_1_2_10_60_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2014.08.001"},{"key":"e_1_2_10_61_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3181c5e6f7"},{"issue":"1","key":"e_1_2_10_62_1","first-page":"35","article-title":"Mutational Analysis of SLC22A5 Gene in Eight Patients With Systemic Primary Carnitine Deficiency","volume":"34","author":"Lin Y.","year":"2017","journal-title":"Zhonghua Yi Xue Yi Chuan Xue Za Zhi"},{"key":"e_1_2_10_63_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2017.06.015"},{"key":"e_1_2_10_64_1","doi-asserted-by":"publisher","DOI":"10.1097\/00125817-200111000-00002"},{"key":"e_1_2_10_65_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.96.5.2356"},{"key":"e_1_2_10_66_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2019.01052"},{"issue":"10","key":"e_1_2_10_67_1","first-page":"1164","article-title":"Biochemical and Genetic Characteristics of 40 Neonates With Carnitine Deficiency","volume":"45","author":"Zhou X.","year":"2020","journal-title":"Zhong Nan da Xue Xue Bao Yi Xue Ban = Journal of Central South University Medical Sciences"},{"key":"e_1_2_10_68_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20315"},{"key":"e_1_2_10_69_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-006-0335-7"},{"key":"e_1_2_10_70_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-020-01371-2"},{"key":"e_1_2_10_71_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12098-016-2250-8"},{"key":"e_1_2_10_72_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgmr.2014.04.008"},{"key":"e_1_2_10_73_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(200001)15:1<118::AID-HUMU28>3.0.CO;2-8"},{"key":"e_1_2_10_74_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M309171200"},{"key":"e_1_2_10_75_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2022.855943"},{"key":"e_1_2_10_76_1","doi-asserted-by":"publisher","DOI":"10.3390\/brainsci9060137"},{"key":"e_1_2_10_77_1","doi-asserted-by":"publisher","DOI":"10.1124\/mol.106.028126"},{"key":"e_1_2_10_78_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12041-015-0486-0"},{"key":"e_1_2_10_79_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M000194200"},{"key":"e_1_2_10_80_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(200003)15:3<238::AID-HUMU4>3.0.CO;2-3"},{"key":"e_1_2_10_81_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12098-016-2227-7"},{"key":"e_1_2_10_82_1","doi-asserted-by":"publisher","DOI":"10.1177\/2329048X231184183"},{"key":"e_1_2_10_83_1","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2012_198"},{"key":"e_1_2_10_84_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2010.11.007"},{"key":"e_1_2_10_85_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9053"},{"key":"e_1_2_10_86_1","doi-asserted-by":"publisher","DOI":"10.1515\/jpem-2017-0002"},{"key":"e_1_2_10_87_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20137"},{"key":"e_1_2_10_88_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10585"},{"key":"e_1_2_10_89_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20325"},{"key":"e_1_2_10_90_1","doi-asserted-by":"publisher","DOI":"10.4081\/pr.2018.7705"},{"key":"e_1_2_10_91_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.hrthm.2015.07.027"},{"key":"e_1_2_10_92_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.901"},{"key":"e_1_2_10_93_1","doi-asserted-by":"publisher","DOI":"10.1155\/2015\/259627"},{"key":"e_1_2_10_94_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.274.47.33388"},{"key":"e_1_2_10_95_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.4.655"},{"issue":"8","key":"e_1_2_10_96_1","first-page":"820","article-title":"Analysis on the Diagnosis, Treatment and Gene Mutation of Neonatal Primary Carnitine Deficiency","volume":"27","author":"Sun Y.","year":"2019","journal-title":"Chinese Journal of Child Health Care"},{"key":"e_1_2_10_97_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2008.02.002"},{"key":"e_1_2_10_98_1","doi-asserted-by":"publisher","DOI":"10.1159\/000333127"},{"key":"e_1_2_10_99_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20323"},{"issue":"12","key":"e_1_2_10_100_1","first-page":"1167","article-title":"Clinical and Genetic Characteristics of Primary Carnitine Deficiency Identified by Neonatal Screening","volume":"36","author":"Li X.","year":"2019","journal-title":"Zhonghua Yi Xue Yi Chuan Xue Za Zhi"},{"key":"e_1_2_10_101_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2249.2009.03879.x"},{"key":"e_1_2_10_102_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcp.2011.08.008"},{"key":"e_1_2_10_103_1","doi-asserted-by":"publisher","DOI":"10.1177\/23247096211019543"},{"key":"e_1_2_10_104_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1583"},{"key":"e_1_2_10_105_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.21167"},{"key":"e_1_2_10_106_1","doi-asserted-by":"publisher","DOI":"10.1002\/jmd2.70014"},{"key":"e_1_2_10_107_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2007.00814.x"},{"key":"e_1_2_10_108_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13052-025-01911-1"},{"issue":"2","key":"e_1_2_10_109_1","first-page":"161","article-title":"Analysis of Blood Carnitine Profile and SLC22A5 Gene Variants in 17 Neonates With Primary Carnitine Deficiency","volume":"40","author":"Song W.","year":"2023","journal-title":"Zhonghua Yi Xue Yi Chuan Xue Za Zhi"},{"key":"e_1_2_10_110_1","doi-asserted-by":"publisher","DOI":"10.1515\/jpem-2014-0528"},{"issue":"3","key":"e_1_2_10_111_1","first-page":"290","article-title":"Screening for Newborn Fatty Acid Oxidation Disorders in Chongqing and the Follow\u2010Up of Confirmed Children","volume":"51","author":"Chen M.","year":"2022","journal-title":"Zhejiang da Xue Xue Bao Yi Xue Ban = Journal of Zhejiang University Medical Sciences"},{"key":"e_1_2_10_112_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijns10020028"},{"key":"e_1_2_10_113_1","first-page":"289","article-title":"Disease Spectrum and Genetic Profiles of Neonatal Inborn Errors of Metabolism in Selected Areas of Nanning City","volume":"38","author":"Qin X.","year":"2023","journal-title":"Chinese Journal of Neonatology"},{"key":"e_1_2_10_114_1","doi-asserted-by":"publisher","DOI":"10.1136\/bcr-2022-251321"},{"key":"e_1_2_10_115_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-024-03325-4"},{"key":"e_1_2_10_116_1","doi-asserted-by":"publisher","DOI":"10.1111\/anec.13077"},{"key":"e_1_2_10_117_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20320"},{"key":"e_1_2_10_118_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12887-020-02372-7"},{"key":"e_1_2_10_119_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2023.985720"},{"key":"e_1_2_10_120_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20324"},{"key":"e_1_2_10_121_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-012-9488-8"},{"key":"e_1_2_10_122_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neulet.2018.03.064"},{"key":"e_1_2_10_123_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.heliyon.2024.e33581"},{"key":"e_1_2_10_124_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20322"},{"key":"e_1_2_10_125_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.12.2247"},{"key":"e_1_2_10_126_1","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2011_36"},{"key":"e_1_2_10_127_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1025968502527"},{"key":"e_1_2_10_128_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1096-7192(02)00169-5"},{"key":"e_1_2_10_129_1","doi-asserted-by":"publisher","DOI":"10.1515\/jpem-2017-0003"},{"key":"e_1_2_10_130_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-018-0731-5"},{"key":"e_1_2_10_131_1","doi-asserted-by":"publisher","DOI":"10.1111\/ped.70211"},{"key":"e_1_2_10_132_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20317"},{"key":"e_1_2_10_133_1","doi-asserted-by":"publisher","DOI":"10.1159\/000534932"},{"key":"e_1_2_10_134_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22286"},{"key":"e_1_2_10_135_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.2210247119"},{"key":"e_1_2_10_136_1","doi-asserted-by":"publisher","DOI":"10.1101\/2024.05.29.24308100"},{"key":"e_1_2_10_137_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cardiores.2005.02.004"},{"key":"e_1_2_10_138_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-023-06585-5"},{"key":"e_1_2_10_139_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12872-023-03676-z"},{"key":"e_1_2_10_140_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073895010002S03"},{"key":"e_1_2_10_141_1","doi-asserted-by":"publisher","DOI":"10.1515\/jpem-2023-0513"},{"key":"e_1_2_10_142_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2023.108098"},{"key":"e_1_2_10_143_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pcl.2017.11.006"},{"key":"e_1_2_10_144_1","doi-asserted-by":"publisher","DOI":"10.1161\/JAHA.124.037311"},{"key":"e_1_2_10_145_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(81)90167-2"},{"key":"e_1_2_10_146_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23839"}],"container-title":["Journal of Cellular and Molecular Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jcmm.71273","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/jcmm.71273","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jcmm.71273","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,29]],"date-time":"2026-07-29T04:06:37Z","timestamp":1785297997000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/jcmm.71273"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7]]},"references-count":145,"journal-issue":{"issue":"14","published-print":{"date-parts":[[2026,7]]}},"alternative-id":["10.1111\/jcmm.71273"],"URL":"https:\/\/doi.org\/10.1111\/jcmm.71273","archive":["Portico"],"relation":{},"ISSN":["1582-1838","1582-4934"],"issn-type":[{"value":"1582-1838","type":"print"},{"value":"1582-4934","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,7]]},"assertion":[{"value":"2025-01-06","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-06-24","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-07-21","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e71273"}}