{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,7]],"date-time":"2026-07-07T13:55:07Z","timestamp":1783432507030,"version":"3.54.6"},"reference-count":28,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2017,7,1]],"date-time":"2017-07-01T00:00:00Z","timestamp":1498867200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2017,7,1]],"date-time":"2017-07-01T00:00:00Z","timestamp":1498867200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"name":"Ministry of Health & Welfare","award":["HI12C0014"],"award-info":[{"award-number":["HI12C0014"]}]}],"content-domain":{"domain":["ajkd.org","clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["American Journal of Kidney Diseases"],"published-print":{"date-parts":[[2017,7]]},"DOI":"10.1053\/j.ajkd.2016.10.040","type":"journal-article","created":{"date-parts":[[2017,1,20]],"date-time":"2017-01-20T12:04:52Z","timestamp":1484913892000},"page":"139-144","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":48,"title":["COQ6 Mutations in Children With Steroid-Resistant Focal Segmental Glomerulosclerosis and Sensorineural Hearing Loss"],"prefix":"10.1053","volume":"70","author":[{"given":"Eujin","family":"Park","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yo Han","family":"Ahn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hee Gyung","family":"Kang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kee Hwan","family":"Yoo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nam Hee","family":"Won","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kyoung Bun","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kyung Chul","family":"Moon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Moon-Woo","family":"Seong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tae rin","family":"Gwon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sung Sup","family":"Park","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hae Il","family":"Cheong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"6","key":"10.1053\/j.ajkd.2016.10.040_bib1","doi-asserted-by":"crossref","first-page":"1279","DOI":"10.1681\/ASN.2014050489","article-title":"A\u00a0single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome","volume":"26","author":"Sadowski","year":"2015","journal-title":"J\u00a0Am Soc Nephrol"},{"issue":"6","key":"10.1053\/j.ajkd.2016.10.040_bib2","doi-asserted-by":"crossref","first-page":"1109","DOI":"10.2215\/CJN.09010813","article-title":"Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome","volume":"9","author":"Lovric","year":"2014","journal-title":"Clin J Am Soc Nephrol"},{"issue":"4","key":"10.1053\/j.ajkd.2016.10.040_bib3","doi-asserted-by":"crossref","first-page":"592","DOI":"10.2215\/CJN.06260614","article-title":"Spectrum of steroid-resistant and congenital nephrotic syndrome in children: the PodoNet registry cohort","volume":"10","author":"Trautmann","year":"2015","journal-title":"Clin J Am Soc Nephrol"},{"issue":"1","key":"10.1053\/j.ajkd.2016.10.040_bib4","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1681\/ASN.2013111155","article-title":"Heterogeneous genetic alterations in sporadic nephrotic syndrome associate with resistance to immunosuppression","volume":"26","author":"Giglio","year":"2015","journal-title":"J\u00a0Am Soc Nephrol"},{"issue":"2","key":"10.1053\/j.ajkd.2016.10.040_bib5","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1038\/ng821","article-title":"Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia","volume":"30","author":"Boerkoel","year":"2002","journal-title":"Nat Genet"},{"issue":"21","key":"10.1053\/j.ajkd.2016.10.040_bib6","doi-asserted-by":"crossref","first-page":"2625","DOI":"10.1093\/hmg\/ddh284","article-title":"Human laminin\u03b22 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities","volume":"13","author":"Zenker","year":"2004","journal-title":"Hum Mol Genet"},{"issue":"1","key":"10.1053\/j.ajkd.2016.10.040_bib7","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1038\/ng0598-47","article-title":"Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome","volume":"19","author":"Dreyer","year":"1998","journal-title":"Nat Genet"},{"issue":"1","key":"10.1053\/j.ajkd.2016.10.040_bib8","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1038\/79063","article-title":"Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Hegglin\/Fechtner Syndrome Consortium","volume":"26","author":"Seri","year":"2000","journal-title":"Nat Genet"},{"issue":"2","key":"10.1053\/j.ajkd.2016.10.040_bib9","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1016\/0092-8674(91)90194-4","article-title":"Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome","volume":"67","author":"Pelletier","year":"1991","journal-title":"Cell"},{"issue":"8","key":"10.1053\/j.ajkd.2016.10.040_bib10","doi-asserted-by":"crossref","first-page":"2099","DOI":"10.1097\/01.ASN.0000080180.51098.02","article-title":"The spectrum of systemic involvement in adults presenting with renal lesion and mitochondrial tRNA(Leu) gene mutation","volume":"14","author":"Guery","year":"2003","journal-title":"J\u00a0Am Soc Nephrol"},{"issue":"3-4","key":"10.1053\/j.ajkd.2016.10.040_bib11","doi-asserted-by":"crossref","first-page":"156","DOI":"10.1159\/000362826","article-title":"Genetics of coenzyme Q10 deficiency","volume":"5","author":"Doimo","year":"2014","journal-title":"Mol Syndromol"},{"issue":"5","key":"10.1053\/j.ajkd.2016.10.040_bib12","doi-asserted-by":"crossref","first-page":"2013","DOI":"10.1172\/JCI45693","article-title":"COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness","volume":"121","author":"Heeringa","year":"2011","journal-title":"J\u00a0Clin Invest"},{"issue":"10","key":"10.1053\/j.ajkd.2016.10.040_bib13","doi-asserted-by":"crossref","first-page":"2773","DOI":"10.1681\/ASN.2006080833","article-title":"COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement","volume":"18","author":"Diomedi-Camassei","year":"2007","journal-title":"J\u00a0Am Soc Nephrol"},{"issue":"9227","key":"10.1053\/j.ajkd.2016.10.040_bib14","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1016\/S0140-6736(00)02531-9","article-title":"Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q 10 deficiency","volume":"356","author":"Rotig","year":"2000","journal-title":"Lancet"},{"issue":"6","key":"10.1053\/j.ajkd.2016.10.040_bib15","doi-asserted-by":"crossref","first-page":"1253","DOI":"10.1038\/ki.2014.305","article-title":"Rare hereditary COL4A3\/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis","volume":"86","author":"Malone","year":"2014","journal-title":"Kidney Int"},{"issue":"2","key":"10.1053\/j.ajkd.2016.10.040_bib16","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1038\/ki.2010.21","article-title":"Patients with Epstein-Fechtner syndromes owing to MYH9 R702 mutations develop progressive proteinuric renal disease","volume":"78","author":"Sekine","year":"2010","journal-title":"Kidney Int"},{"issue":"8","key":"10.1053\/j.ajkd.2016.10.040_bib17","doi-asserted-by":"crossref","first-page":"3243","DOI":"10.1172\/JCI69134","article-title":"ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling","volume":"123","author":"Gee","year":"2013","journal-title":"J\u00a0Clin Invest"},{"issue":"25","key":"10.1053\/j.ajkd.2016.10.040_bib18","doi-asserted-by":"crossref","first-page":"2377","DOI":"10.1056\/NEJMoa1109122","article-title":"INF2 mutations in Charcot\u2013Marie\u2013Tooth disease with glomerulopathy","volume":"365","author":"Boyer","year":"2011","journal-title":"N\u00a0Engl J Med"},{"issue":"26","key":"10.1053\/j.ajkd.2016.10.040_bib19","doi-asserted-by":"crossref","first-page":"2656","DOI":"10.1056\/NEJMra022567","article-title":"Mitochondrial respiratory chain diseases","volume":"348","author":"DiMauro","year":"2003","journal-title":"N\u00a0Engl J Med"},{"key":"10.1053\/j.ajkd.2016.10.040_bib20","doi-asserted-by":"crossref","first-page":"57","DOI":"10.2147\/IJNRD.S37887","article-title":"Renal manifestations of genetic mitochondrial disease","volume":"7","author":"O\u2019Toole","year":"2014","journal-title":"Int J Nephrol Renovasc Dis"},{"issue":"4","key":"10.1053\/j.ajkd.2016.10.040_bib21","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1007\/s00467-011-1926-6","article-title":"Renal involvement in mitochondrial cytopathies","volume":"27","author":"Emma","year":"2012","journal-title":"Pediatr Nephrol"},{"issue":"4","key":"10.1053\/j.ajkd.2016.10.040_bib22","doi-asserted-by":"crossref","first-page":"F367","DOI":"10.1152\/ajprenal.00571.2013","article-title":"Mitochondrial dysfunction in the pathophysiology of renal diseases","volume":"306","author":"Che","year":"2014","journal-title":"Am J Physiol Renal Physiol"},{"issue":"1","key":"10.1053\/j.ajkd.2016.10.040_bib23","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1007\/s10545-014-9749-9","article-title":"Genetic bases and clinical manifestations of coenzyme Q10 (CoQ10) deficiency","volume":"38","author":"Desbats","year":"2015","journal-title":"J\u00a0Inherit Metab Dis"},{"issue":"12","key":"10.1053\/j.ajkd.2016.10.040_bib24","doi-asserted-by":"crossref","first-page":"5179","DOI":"10.1172\/JCI69000","article-title":"ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption","volume":"123","author":"Ashraf","year":"2013","journal-title":"J\u00a0Clin Invest"},{"issue":"3","key":"10.1053\/j.ajkd.2016.10.040_bib25","doi-asserted-by":"crossref","first-page":"765","DOI":"10.1172\/JCI29089","article-title":"Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders","volume":"117","author":"Mollet","year":"2007","journal-title":"J\u00a0Clin Invest"},{"issue":"4","key":"10.1053\/j.ajkd.2016.10.040_bib26","doi-asserted-by":"crossref","first-page":"606","DOI":"10.1212\/01.wnl.0000172859.55579.a7","article-title":"Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition","volume":"65","author":"Salviati","year":"2005","journal-title":"Neurology"},{"issue":"26","key":"10.1053\/j.ajkd.2016.10.040_bib27","doi-asserted-by":"crossref","first-page":"2849","DOI":"10.1056\/NEJMc0800582","article-title":"Early coenzyme Q10 supplementation in primary coenzyme Q10 deficiency","volume":"358","author":"Montini","year":"2008","journal-title":"N\u00a0Engl J Med"},{"issue":"3","key":"10.1053\/j.ajkd.2016.10.040_bib28","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1136\/jmedgenet-2011-100394","article-title":"Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency","volume":"49","author":"Salviati","year":"2012","journal-title":"J\u00a0Med Genet"}],"container-title":["American Journal of Kidney Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0272638616307053?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0272638616307053?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,3]],"date-time":"2025-10-03T02:57:28Z","timestamp":1759460248000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0272638616307053"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,7]]},"references-count":28,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2017,7]]}},"alternative-id":["S0272638616307053"],"URL":"https:\/\/doi.org\/10.1053\/j.ajkd.2016.10.040","relation":{},"ISSN":["0272-6386"],"issn-type":[{"value":"0272-6386","type":"print"}],"subject":[],"published":{"date-parts":[[2017,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"COQ6 Mutations in Children With Steroid-Resistant Focal Segmental Glomerulosclerosis and Sensorineural Hearing Loss","name":"articletitle","label":"Article Title"},{"value":"American Journal of Kidney Diseases","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1053\/j.ajkd.2016.10.040","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017 by the National Kidney Foundation, Inc.","name":"copyright","label":"Copyright"}]}}