{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T02:41:21Z","timestamp":1772160081807,"version":"3.50.1"},"reference-count":31,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2025,6,10]],"date-time":"2025-06-10T00:00:00Z","timestamp":1749513600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01DC016875"],"award-info":[{"award-number":["R01DC016875"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01DC006908"],"award-info":[{"award-number":["R01DC006908"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["UG3TR002636"],"award-info":[{"award-number":["UG3TR002636"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["UH3TR002636"],"award-info":[{"award-number":["UH3TR002636"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000055","name":"National Institute on Deafness and Other Communication Disorders","doi-asserted-by":"publisher","award":["R01 DC005575"],"award-info":[{"award-number":["R01 DC005575"]}],"id":[{"id":"10.13039\/100000055","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000055","name":"National Institute on Deafness and Other Communication Disorders","doi-asserted-by":"publisher","award":["R01 DC012115"],"award-info":[{"award-number":["R01 DC012115"]}],"id":[{"id":"10.13039\/100000055","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000005","name":"U.S. Department of Defense","doi-asserted-by":"publisher","award":["RH220053"],"award-info":[{"award-number":["RH220053"]}],"id":[{"id":"10.13039\/100000005","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2025,11]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Variants in the phosphoribosylpyrophosphate synthetase (\n                    <jats:italic>PRPS1<\/jats:italic>\n                    ) gene have been shown to cause X\u2010linked nonsyndromic hearing loss (HL) (DFNX1) in humans. A c.259G&gt;A transition in\n                    <jats:italic>PRPS1<\/jats:italic>\n                    , which leads to p.Ala87Thr, has been demonstrated to cause HL. The aim of this study was to generate a transgenic knock\u2010in (KI) mouse with the Prps1 missense variant p.Ala87Thr and to study its impact on the auditory phenotype. Compared to wild\u2010type (WT) control, transgenic\n                    <jats:italic>Prps1<\/jats:italic>\n                    KI mice started to exhibit HL at 32\u2009kHz at 4\u201312\u2009weeks of age, with HL extending to 8 and 16\u2009kHz by 48\u2009weeks of age. A significant decrease in the number of hair cells and spiral ganglion neuron (SGN) counts was observed at 48\u2009weeks of age in transgenic KI mice. These traits may be associated with the Bak\u2010dependent mitochondrial apoptosis program, which is triggered by oxidative stress and has been identified as a key mechanism of age\u2010related HL in C57BL\/6J mice. Enzymatic assay showed a significant reduction in Prps1 enzymatic activity in KI compared to WT animals. The Prps1 p.Ala87Thr KI mouse model will serve as a valuable tool for developing therapeutic strategies to mitigate HL associated with\n                    <jats:italic>PRPS1<\/jats:italic>\n                    variants.\n                  <\/jats:p>","DOI":"10.1111\/cge.14776","type":"journal-article","created":{"date-parts":[[2025,6,10]],"date-time":"2025-06-10T22:41:12Z","timestamp":1749595272000},"page":"566-575","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Generation and Auditory Phenotypic Characterization of Prps1 p.\n                    <scp>Ala87Thr<\/scp>\n                    Mouse Knock\u2010In Model for Human\n                    <scp>DFNX1<\/scp>\n                    Deafness"],"prefix":"10.1111","volume":"108","author":[{"given":"Denise","family":"Yan","sequence":"first","affiliation":[{"name":"Department of Otolaryngology University of Miami Miller School of Medicine  Miami Florida USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M'hamed","family":"Grati","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology University of Miami Miller School of Medicine  Miami Florida USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rahul","family":"Mittal","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology University of Miami Miller School of Medicine  Miami Florida USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yi\u2010Zhou","family":"Quan","sequence":"additional","affiliation":[{"name":"Department of Otology and Laryngology Harvard Medical School and Eaton\u2010Peabody Laboratory, Massachusetts Eye and Ear Infirmary  Boston USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wan","family":"Du","sequence":"additional","affiliation":[{"name":"Department of Otology and Laryngology Harvard Medical School and Eaton\u2010Peabody Laboratory, Massachusetts Eye and Ear Infirmary  Boston USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zheng\u2010Yi","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Otology and Laryngology Harvard Medical School and Eaton\u2010Peabody Laboratory, Massachusetts Eye and Ear Infirmary  Boston USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xue Zhong","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology University of Miami Miller School of Medicine  Miami Florida USA"},{"name":"John P. Hussman Institute for Human Genomics University of Miami  Miami Florida USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,6,10]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1749-6632.1991.tb19572.x"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ar.22579"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(19)69884-4"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(18)47828-3"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/28.1.27"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.02.024"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1199\/tab.0018"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1155\/2015\/127013"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.3109\/14992027.2012.736032"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/jgm.2935"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11011-017-0121-2"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms21144824"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.112"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1086\/520706"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/neup.12589"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23349"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.168"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.12.2055"},{"key":"e_1_2_10_20_1","first-page":"621","article-title":"Hereditary Postlingual Sensorineural Hearing Loss Mapping to Chromosome Xq21","volume":"20","author":"Manolis E. 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