{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,19]],"date-time":"2026-01-19T13:51:06Z","timestamp":1768830666421,"version":"3.49.0"},"reference-count":39,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2025,1,6]],"date-time":"2025-01-06T00:00:00Z","timestamp":1736121600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82370525"],"award-info":[{"award-number":["82370525"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007219","name":"Natural Science Foundation of Shanghai Municipality","doi-asserted-by":"publisher","award":["22ZR1441100"],"award-info":[{"award-number":["22ZR1441100"]}],"id":[{"id":"10.13039\/100007219","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2025,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Coxsackie and adenovirus receptor\u2010like membrane protein (CLMP) mutation is identified as a genetic risk factor of congenital short bowel syndrome (CSBS). However, the specific pathogenic mechanism remains unclear. This study aimed to explore the clinical manifestations, genetic characteristics, and molecular mechanisms underlying CSBS caused by CLMP mutations. Whole\u2010exome sequencing was performed to determine the pathogenic gene mutations in children with CSBS and their family members. In addition, a zebrafish model was established by microinjecting morpholinos into zebrafish embryos to investigate the role of <jats:italic>clmp<\/jats:italic> in intestinal embryonic development. This was investigated by measuring the length of zebrafish, evaluating gastrointestinal motility, and performing qRT\u2010PCR assays. Two children with CSBS had CLMP mutations, one with a c.244C&gt;T (p.R82*) mutation and exons 3\u20135 deletion, and the other with a c.23T&gt;A (p.L8*) mutation and exons 3\u20135 deletion. After knocking down <jats:italic>clmp<\/jats:italic> expression in zebrafish embryos, the intestinal length and the gastrointestinal motility decreased. Furthermore, the expression of smooth muscle\u2010associated genes decreased significantly. Additionally, <jats:italic>clmp<\/jats:italic> mRNA partially rescued zebrafish defects caused by <jats:italic>clmp<\/jats:italic> morpholino knockdown. <jats:italic>Clmp<\/jats:italic> knockdown decreased intestinal transport dynamics and expression of smooth muscle\u2010related genes in zebrafish. CLMP is expected to be a potential gene therapeutic target for CSBS.<\/jats:p>","DOI":"10.1111\/cge.14678","type":"journal-article","created":{"date-parts":[[2025,1,7]],"date-time":"2025-01-07T05:15:58Z","timestamp":1736226958000},"page":"413-424","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Loss\u2010of\u2010Function of <scp>CLMP<\/scp> Is Associated With Congenital Short Bowel Syndrome and Impaired Intestinal Development"],"prefix":"10.1111","volume":"107","author":[{"given":"Shanshan","family":"Chen","sequence":"first","affiliation":[{"name":"Division of Pediatric Gastroenterology and Nutrition Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0469-4356","authenticated-orcid":false,"given":"Juan","family":"Xu","sequence":"additional","affiliation":[{"name":"Division of Pediatric Gastroenterology and Nutrition Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yongtao","family":"Xiao","sequence":"additional","affiliation":[{"name":"Division of Pediatric Gastroenterology and Nutrition Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University  Shanghai China"},{"name":"Shanghai Institute for Pediatric Research  Shanghai China"},{"name":"Shanghai Key Laboratory of Pediatric Gastroenterology and Nutrition  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hui","family":"Cai","sequence":"additional","affiliation":[{"name":"Division of Pediatric Gastroenterology and Nutrition Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jie","family":"Zhou","sequence":"additional","affiliation":[{"name":"Division of Pediatric Gastroenterology and Nutrition Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei","family":"Cai","sequence":"additional","affiliation":[{"name":"Division of Pediatric Gastroenterology and Nutrition Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University  Shanghai China"},{"name":"Shanghai Institute for Pediatric Research  Shanghai China"},{"name":"Shanghai Key Laboratory of Pediatric Gastroenterology and Nutrition  Shanghai China"},{"name":"Department of Pediatric Surgery Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ying","family":"Wang","sequence":"additional","affiliation":[{"name":"Division of Pediatric Gastroenterology and Nutrition Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University  Shanghai China"},{"name":"Shanghai Institute for Pediatric Research  Shanghai China"},{"name":"Shanghai Key Laboratory of Pediatric Gastroenterology and Nutrition  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,1,6]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0016-5085(69)80074-0"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.3109\/15513818809022320"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2015.08.007"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpedsurg.2020.03.009"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2012.123"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.gastro.2011.11.038"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4614-8090-7_2"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1042\/BJ20041709"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/jpen.1974"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1306555"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1187996"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2015.053"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mcn.2016.11.009"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/aja.1002030302"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2982.2008.01234.x"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.3389\/fcell.2020.629073"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1242\/jeb.000935"},{"issue":"4","key":"e_1_2_11_19_1","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1055\/s-2008-1072255","article-title":"Congenital Short\u2010Bowel; 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