{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T15:16:18Z","timestamp":1787498178936,"version":"build-2736575974"},"reference-count":16,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2024,7,9]],"date-time":"2024-07-09T00:00:00Z","timestamp":1720483200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2024,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    There are currently multiple disorders of aminoacyl\u2010tRNA synthetases described, including\n                    <jats:italic>KARS1\u2010<\/jats:italic>\n                    related disorder resulting from dysfunctional lysyl\u2010tRNA synthetases. In this report, we describe four novel\n                    <jats:italic>KARS1<\/jats:italic>\n                    variants in three affected individuals, two of whom displayed arthrogryposis\u2010like phenotypes, suggestive of phenotypic expansion. We also highlight subjective clinical improvement in one subject following lysine supplementation in conjunction with a protein\u2010fortified diet, suggesting its potential as a novel treatment modality for\n                    <jats:italic>KARS1<\/jats:italic>\n                    \u2010related disorders. This report offers additional insight into the etiology and management of\n                    <jats:italic>KARS1<\/jats:italic>\n                    \u2010related disorders and expands our ability to provide guidance to affected individuals and their families.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.63811","type":"journal-article","created":{"date-parts":[[2024,7,9]],"date-time":"2024-07-09T09:51:03Z","timestamp":1720518663000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Expansion of the phenotypic spectrum of\n                    <i>KARS1<\/i>\n                    \u2010related disorders to include arthrogryposis multiplex congenita and summary of experiences with lysine supplementation"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0009-0007-3780-4116","authenticated-orcid":false,"given":"Taylor A.","family":"Bejma","sequence":"first","affiliation":[{"name":"Michigan State University College of Human Medicine  Grand Rapids Michigan USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Willa S.","family":"Beidler","sequence":"additional","affiliation":[{"name":"Goshen College  Goshen Indiana USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth A.","family":"VanSickle","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics and Genomics Corewell Health  Grand Rapids Michigan USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeremy W.","family":"Prokop","sequence":"additional","affiliation":[{"name":"Office of Research Corewell Health  Grand Rapids Michigan USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wendy T.","family":"Brown","sequence":"additional","affiliation":[{"name":"Department of Radiology Helen DeVos Children's Hospital and Corewell Health, Advanced Radiology Services  Grand Rapids Michigan USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Scheurer\u2010Monaghan","sequence":"additional","affiliation":[{"name":"Bronson Children's Hospital  Kalamazoo Michigan USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linda Z.","family":"Rossetti","sequence":"additional","affiliation":[{"name":"Michigan State University College of Human Medicine  Grand Rapids Michigan USA"},{"name":"Division of Medical Genetics and Genomics Corewell Health  Grand Rapids Michigan USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,7,9]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-018-0788-4"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24210"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awz001"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-021-01249-z"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.09.008"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073814553272"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12920-020-00863-1"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/cphy.c210012"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00894-017-3258-3"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.05.018"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23799"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000316"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.metabol.2006.09.011"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes11121437"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23335"}],"container-title":["American 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