{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,6]],"date-time":"2025-12-06T04:52:47Z","timestamp":1764996767165,"version":"3.46.0"},"reference-count":49,"publisher":"International Research and Cooperation Association for Bio & Socio-Sciences Advancement (IRCA-BSSA)","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IRDR"],"published-print":{"date-parts":[[2025,11,30]]},"DOI":"10.5582\/irdr.2025.01080","type":"journal-article","created":{"date-parts":[[2025,12,3]],"date-time":"2025-12-03T22:07:08Z","timestamp":1764799628000},"page":"258-265","source":"Crossref","is-referenced-by-count":0,"title":["Advances in research on congenital and hereditary intestinal diseases: From molecular mechanisms to precision medicine"],"prefix":"10.5582","volume":"14","author":[{"given":"Lichao","family":"Yang","sequence":"first","affiliation":[{"name":"Department of General Surgery, The Second Xiangya Hospital of Central South University, Changsha, China."},{"name":"National Center for Global Health and Medicine, Japan Institute for Health Security, Tokyo, Japan."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Reproductive Medicine, The First Affiliated Hospital of Naval Medical University, Shanghai, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lianwen","family":"Yuan","sequence":"additional","affiliation":[{"name":"Department of General Surgery, The Second Xiangya Hospital of Central South University, Changsha, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei","family":"Tang","sequence":"additional","affiliation":[{"name":"National Center for Global Health and Medicine, Japan Institute for Health Security, Tokyo, Japan."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"3542","reference":[{"key":"1","doi-asserted-by":"crossref","unstructured":"1. Monahan KJ, Bradshaw N, Dolwani S, Desouza B, Dunlop MG, East JE, Ilyas M, Kaur A, Lalloo F, Latchford A, Rutter MD, Tomlinson I, Thomas HJW, Hill J, Hereditary CRC guidelines eDelphi consensus group. Guidelines for the management of hereditary colorectal cancer from the British Society of Gastroenterology (BSG)\/Association of Coloproctology of Great Britain and Ireland (ACPGBI)\/United Kingdom Cancer Genetics Group (UKCGG). Gut. 2020; 69:411-44.","DOI":"10.1136\/gutjnl-2019-319915"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. Conteduca V, Sansonno D, Russi S, Dammacco F. Precancerous colorectal lesions (Review). Int J Oncol. 2013; 43:973-84.","DOI":"10.3892\/ijo.2013.2041"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3. Shepherd A, Feinstein L, Sabel S, Rastelli D, Mezhibovsky E, Matthews L, Muppirala A, Robinson A, Sharma KR, ElSeht A, Zeve D, Breault DT, Gershon MD, Rao M. RET signaling persists in the adult intestine and stimulates motility by limiting PYY release from enteroendocrine cells. Gastroenterology. 2024; 166:437-49.","DOI":"10.1053\/j.gastro.2023.11.020"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Issaka RB, Chan AT, Gupta S. AGA Clinical practice update on risk stratification for colorectal cancer screening and post-polypectomy surveillance: Expert Review. Gastroenterology. 2023; 165:1280-91.","DOI":"10.1053\/j.gastro.2023.06.033"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5. Clarke JM, Lockett TJ, Harrap KL, <i>et al.<\/i> The effect of butyrylated starch on bowel polyps in familial adenomatous polyposis: Results of a randomized, double-blind, placebo-controlled crossover trial. Cancer Prev Res Phila Pa. 2025; 18:703-13.","DOI":"10.1158\/1940-6207.CAPR-24-0513"},{"key":"6","doi-asserted-by":"crossref","unstructured":"6. Wu L, Bai R, Zhang Y, Chen H, Wu J, Chen Z, Wang H, Zhao L. METTL3-VISTA axis-based combination immunotherapy for APC truncation colorectal cancer. J Immunother Cancer. 2024; 12:e009865.","DOI":"10.1136\/jitc-2024-009865"},{"key":"7","doi-asserted-by":"crossref","unstructured":"7. Dong Z, Ojha A, Barlow L, Luo L, Liu JY, Zhang JT. The eIF3a translational control axis in the Wnt\/\u03b2-catenin signaling pathway and colon tumorigenesis. Cancer Lett. 2024; 605:217303.","DOI":"10.1016\/j.canlet.2024.217303"},{"key":"8","doi-asserted-by":"crossref","unstructured":"8. Li J, Wang R, Zhou X, Wang W, Gao S, Mao Y, Wu X, Guo L, Liu H, Wen L, Fu W, Tang F. Genomic and transcriptomic profiling of carcinogenesis in patients with familial adenomatous polyposis. Gut. 2020; 69:1283-93.","DOI":"10.1136\/gutjnl-2019-319438"},{"key":"9","doi-asserted-by":"crossref","unstructured":"9. M\u00e4ki-Nevala S, Kauppinen A, Olkinuora A, Laiho A, T\u00f6r\u00f6nen P, Renkonen-Sinisalo L, Lepist\u00f6 A, Sepp\u00e4l\u00e4 TT, Mecklin JP, Peltom\u00e4ki P. Genome-wide DNA methylation profiles of colorectal tumors in Lynch syndrome and familial adenomatous polyposis. Clin Epigenetics. 2025; 17:137.","DOI":"10.1186\/s13148-025-01940-x"},{"key":"10","doi-asserted-by":"publisher","unstructured":"10. Plugge SF, Ma H, van der Vaart JY, <i>et al.<\/i> Intestinal LKB1 loss drives a premalignant program along the serrated cancer pathway. Gastroenterology. 2025; S0016-5085(25)05850-0. doi: 10.1053\/j.gastro.2025.07.041.","DOI":"10.1053\/j.gastro.2025.07.041"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11. Dom\u00e8nech-Moreno E, Lim WW, Montrose MG, S\u00e9vigny M, Brandt A, Lemmetyinen TT, Viitala EW, M\u00e4kel\u00e4 TP, Cook SA, Ollila S. Interleukin-11 expressed in the polyp-enriched fibroblast subset is a potential therapeutic target in Peutz-Jeghers syndrome. J Pathol. 2025; 266:66-80.","DOI":"10.1002\/path.6408"},{"key":"12","doi-asserted-by":"crossref","unstructured":"12. Compton SE, DeCamp LM, Oswald BM, Kitchen-Goosen SM, Lau KH, Fillinger R, Dahabieh MS, Ark AV, Krawczyk CM, Jones RG. IL-17 links the tumor suppressor LKB1 to gastrointestinal inflammation and polyposis. Sci Adv. 2025; 11:eadt5933.","DOI":"10.1126\/sciadv.adt5933"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13. Ponti G, Gelsomino F, Tomasi A, Ozben T, Losi L, Manfredini M. Hereditary Micro\u2011Satellite Instable cancers associated with Lynch syndrome: Predictive biomarkers and novel immuno-therapeutic approaches. Crit Rev Clin Lab Sci. 2025; 62:477-90.","DOI":"10.1080\/10408363.2025.2504915"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14. Keshinro A, Ganesh K, Vanderbilt C, Firat C, Kim JK, Chen CT, Yaeger R, Segal NH, Gonen M, Shia J, Stadler ZK, Weiser MR. Characteristics of mismatch repair-deficient colon cancer in relation to mismatch repair protein loss, hypermethylation silencing, and constitutional and biallelic somatic mismatch repair gene pathogenic variants. Dis Colon Rectum. 2023; 66:549-58.","DOI":"10.1097\/DCR.0000000000002452"},{"key":"15","doi-asserted-by":"crossref","unstructured":"15. K\u00e4rkk\u00e4inen M, Siev\u00e4nen T, Korhonen T, Tuomikoski J, Pylv\u00e4n\u00e4inen K, \u00c4yr\u00e4m\u00f6 S, Sepp\u00e4l\u00e4 TT, Mecklin J, Laakkonen EK, Jokela T. Integrative omics approaches to uncover liquid\u2010based cancer\u2010predicting biomarkers in Lynch syndrome. Int J Cancer. 2026; 158:243-56.","DOI":"10.1002\/ijc.70106"},{"key":"16","doi-asserted-by":"crossref","unstructured":"16. Bowen CM, Duzagac F, Martel-Martel A, Reyes-Uribe L, Zaheer M, Thompson J, Deng N, Sinha R, Mazumdar S, Taggart MW, Jain AK, Tosti E, Edelmann W, Sinha KM, Vilar E. Inhibition of histone methyltransferase EZH2 for immune interception of colorectal cancer in Lynch syndrome. JCI Insight. 2025; 10:e177545.","DOI":"10.1172\/jci.insight.177545"},{"key":"17","doi-asserted-by":"crossref","unstructured":"17. Chu YL, Georgeson P, Clendenning M, <i>et a l .<\/i> Intratumoural pks+Escherichia coli is associated with risk of metachronous colorectal cancer and adenoma development in people with Lynch syndrome. EBioMedicine. 2025; 114:105661.","DOI":"10.1016\/j.ebiom.2025.105661"},{"key":"18","doi-asserted-by":"crossref","unstructured":"18. S\u00f6derstr\u00f6m L, Graneli C, Hagelsteen K, Gunnarsdottir A, Oddsberg J, Svensson PJ, Borg H, Br\u00e4utigam M, Gustafson E, L\u00f6f Granstr\u00f6m A, Stenstr\u00f6m P, Wester T. Exploring potential sex differences in Hirschsprung disease: A national cohort study of diagnostic patterns and early postoperative outcome. Pediatr Surg Int. 2025; 41:309.","DOI":"10.1007\/s00383-025-06213-5"},{"key":"19","doi-asserted-by":"crossref","unstructured":"19. Zhong Y, So MT, Ma Z, <i>et al.<\/i> Multi-ancestry genome-wide association meta-analysis identifies novel associations and informs genetic risk prediction for Hirschsprung disease. EBioMedicine. 2025; 115:105680.","DOI":"10.1016\/j.ebiom.2025.105680"},{"key":"20","doi-asserted-by":"crossref","unstructured":"20. Zhou Y, Chi S, Li S, Luo Z, Rong L, Zhang M, Chen Y, Guo J, Yang D, Zhang X, Cao G, Tang ST. Secretagogin downregulation impairs nerve cell migration in Hirschsprung disease <i>via<\/i> inhibition of the LEF-1\/NCAM1 axis. Mol Cell Proteomics MCP. 2025; 24:101032.","DOI":"10.1016\/j.mcpro.2025.101032"},{"key":"21","doi-asserted-by":"crossref","unstructured":"21.Hou X, Yang Y, Wang C, Huang Z, Zhang M, Yang J, Li N, Yang H, Yang L, Wu K. H3K36 methyltransferase SMYD2 affects cell proliferation and migration in Hirschsprung&apos;s disease by regulating METTL3. J Cell Physiol. 2024; 239:e31402.","DOI":"10.1002\/jcp.31402"},{"key":"22","doi-asserted-by":"crossref","unstructured":"22. Rathjen FG, J\u00fcttner R. The IgSF cell adhesion protein CLMP and congenital short bowel syndrome (CSBS). Int J Mol Sci. 2023; 24:5719.","DOI":"10.3390\/ijms24065719"},{"key":"23","doi-asserted-by":"crossref","unstructured":"23. Yu CJ, Ouyang L, An J, Ding Y, Liu ZX, Zhang ZR, Zou MH. Smooth muscle cell (SMC)-specific SNRK deletion in mouse causes congenital short bowel syndrome and premature death. Biochem Biophys Rep. 2025; 44:102298.","DOI":"10.1016\/j.bbrep.2025.102298"},{"key":"24","doi-asserted-by":"crossref","unstructured":"24. Mall MA, Burgel PR, Castellani C, Davies JC, Salathe M, Taylor-Cousar JL. Cystic fibrosis. Nat Rev Dis Primer. 2024; 10:53.","DOI":"10.1038\/s41572-024-00538-6"},{"key":"25","doi-asserted-by":"crossref","unstructured":"25. Young SM, Woode RA, Williams EC, Ericsson AC, Clarke LL. Fecal dysbiosis and inflammation in intestinal-specific Cftr knockout mice on regimens preventing intestinal obstruction. Physiol Genomics. 2024; 56:247-64.","DOI":"10.1152\/physiolgenomics.00077.2023"},{"key":"26","doi-asserted-by":"crossref","unstructured":"26. Scull CE, Hu Y, Jennings S, Wang G. Normalization of Cystic Fibrosis immune system reverses intestinal neutrophilic inflammation and significantly improves the survival of cystic fibrosis mice. Cell Mol Gastroenterol Hepatol. 2025; 19:101424.","DOI":"10.1016\/j.jcmgh.2024.101424"},{"key":"27","doi-asserted-by":"crossref","unstructured":"27. Akbulut DG, \u00d6zden TA, Cantez MS, Ertekin V, Tamay Z, Durmaz \u00d6. Fecal calprotectin as a marker of intestinal inflammation in pediatric cystic fibrosis patients. Eur J Pediatr. 2025; 184:605.","DOI":"10.1007\/s00431-025-06442-9"},{"key":"28","doi-asserted-by":"crossref","unstructured":"28. Bierlaagh MC, Ramalho AS, Silva IAL, <i>et al.<\/i> Repeatability and reproducibility of the forskolin-induced swelling (FIS) assay on intestinal organoids from people with cystic fibrosis. J Cyst Fibros Off J Eur Cyst Fibros Soc. 2024; 23:693-702.","DOI":"10.1016\/j.jcf.2024.04.014"},{"key":"29","doi-asserted-by":"crossref","unstructured":"29. de Poel E, Spelier S, Hagemeijer MC, <i>et al.<\/i> FDA-approved drug screening in patient-derived organoids demonstrates potential of drug repurposing for rare cystic fibrosis genotypes. J Cyst Fibros Off J Eur Cyst Fibros Soc. 2023; 22:548-59.","DOI":"10.1016\/j.jcf.2023.03.004"},{"key":"30","doi-asserted-by":"crossref","unstructured":"30. Habib A, Mamistvalov R, Malcov M, Ben-Yosef D. Predicting colorectal cancer risk in FAP patients using patient-specific organoids. Cancer Gene Ther. 2025; 32:997-1007.","DOI":"10.1038\/s41417-025-00923-7"},{"key":"31","doi-asserted-by":"crossref","unstructured":"31. Laborde N, Barusseaud A, Quaranta M, Rolland C, Arrouy A, Bonnet D, Kirzin S, Sola-Tapias N, Hamel D, Barange K, Duffas JP, Gratacap MP, Guillermet-Guibert J, Breton A, Vergnolle N, <i>et al.<\/i> Human colonic organoids for understanding early events of familial adenomatous polyposis pathogenesis. J Pathol. 2025; 265:26-40.","DOI":"10.1002\/path.6366"},{"key":"32","doi-asserted-by":"crossref","unstructured":"32. Habib A, Mamistvalov R, Ben-Yosef D. Rapamycin rescues APC-mutated colon organoid differentiation. Cancer Gene Ther. 2025; 32:1008-17.","DOI":"10.1038\/s41417-025-00935-3"},{"key":"33","doi-asserted-by":"crossref","unstructured":"33. Liu T, Li S, M\u00fanera JO, Shivdasani RA, Huang X, Zhou Q. Remodelling the colon with ileal properties to treat short bowel syndrome. Gastroenterology. 2025; 169:352-355. e3.","DOI":"10.1053\/j.gastro.2025.03.026"},{"key":"34","doi-asserted-by":"crossref","unstructured":"34. Zhou A, Tang B, Xie Y, Li S, Xiao X, Wu L, Tu D, Wang S, Feng Y, Feng X, Lai Y, Ning S, Yang S. Changes of gut microbiota and short chain fatty acids in patients with Peutz-Jeghers syndrome. BMC Microbiol. 2023; 23:373.","DOI":"10.1186\/s12866-023-03132-0"},{"key":"35","doi-asserted-by":"crossref","unstructured":"35. Wang S, Kou GJ, Zhao XH, Huang G, Wang JX, Tian L, Zuo XL, Li YQ, Wang JY, Yu YB. Altered mucosal bacteria and metabolomics in patients with Peutz-Jeghers syndrome. Gut Pathog. 2024; 16:25.","DOI":"10.1186\/s13099-024-00617-9"},{"key":"36","doi-asserted-by":"crossref","unstructured":"36. Knoll RL, Brauny MM, Robert E, <i>et al.<\/i> CFTR modulator therapy drives microbiome restructuring through improved host physiology in cystic fibrosis: The IMMProveCF phase IV trial. Nat Commun. 2025; 16:10111.","DOI":"10.1038\/s41467-025-64218-z"},{"key":"37","doi-asserted-by":"crossref","unstructured":"37. Goto Y, Masumoto K, Sasaki T, Shirane K, Aoyama T, Sakamoto N, Jimbo T. Efficacy of teduglutide in pediatric short bowel syndrome: Association with citrulline levels and anatomical location of remnant small intestine. Child Basel Switz. 2025; 12:977.","DOI":"10.3390\/children12080977"},{"key":"38","doi-asserted-by":"crossref","unstructured":"38. Liu Z, Wu B, Shi X, Zhou J, Huang H, Li Z, Yang M. Immune profiling of premalignant lesions in patients with Peutz-Jeghers syndrome. United Eur Gastroenterol J. 2025; 13:338-48.","DOI":"10.1002\/ueg2.12650"},{"key":"39","doi-asserted-by":"crossref","unstructured":"39. Pellat A, Loisel C, Metras J, Lefevre JH, Parc Y, Cohen R, Samaille T, Perrier A, Dardenne A, Andr\u00e9 T. Occurrence of dMMR\/MSI-H tumor during follow-up in Lynch syndrome patients treated with immune checkpoint inhibitors for metastatic digestive cancer between 2015 and 2024: A retrospective analysis of a monocentric prospective cohort study. ESMO Open. 2025; 10:105559.","DOI":"10.1016\/j.esmoop.2025.105559"},{"key":"40","doi-asserted-by":"crossref","unstructured":"40. Bay\u00f3 C, Castellano G, Mar\u00edn F, <i>et al.<\/i> Discovery and validation of frameshift-derived neopeptides in Lynch syndrome: Paving the way for novel cancer prevention strategies. J Immunother Cancer. 2025; 13:e011177.","DOI":"10.1136\/jitc-2024-011177"},{"key":"41","doi-asserted-by":"crossref","unstructured":"41. Hanen G, Mohammed HE, Nasser M, Haseeb ME, Yaser H, Yaser S, Allam S. Optimizing surveillance in Lynch syndrome: Lesion detection and comparative performance of different colonoscopy modalities-A systematic review and network meta-analysis. Int J Colorectal Dis. 2025; 40:175.","DOI":"10.1007\/s00384-025-04970-2"},{"key":"42","doi-asserted-by":"crossref","unstructured":"42. Kastrinos F, Ingram MA, Silver ER, Oh A, Laszkowska M, Rustgi AK, Hur C. Gene-specific variation in colorectal cancer surveillance strategies for Lynch syndrome. Gastroenterology. 2021; 161:453-462.e15.","DOI":"10.1053\/j.gastro.2021.04.010"},{"key":"43","doi-asserted-by":"crossref","unstructured":"43. Khurram I, Choudhery MS, Ghani MU, Arif T, Naeem A, Mahmood R, Niaz A, Khan MU. Gene editing for cystic fibrosis: Advances and prospects of CRISPR-Cas9 therapy. Cell Biol Int. 2025; 49:1564-78.","DOI":"10.1002\/cbin.70082"},{"key":"44","doi-asserted-by":"crossref","unstructured":"44. Fries LE, Dharma S, Chakravarti A, Chatterjee S. Variability in proliferative and migratory defects in Hirschsprung disease-associated RET pathogenic variants. Am J Hum Genet. 2025; 112:863-75.","DOI":"10.1016\/j.ajhg.2025.02.004"},{"key":"45","doi-asserted-by":"crossref","unstructured":"45. Johnson DE, Disis ML. Vaccines for cancer interception in familial adenomatous polyposis. Front Immunol. 2025; 16:1525157.","DOI":"10.3389\/fimmu.2025.1525157"},{"key":"46","doi-asserted-by":"crossref","unstructured":"46. Windster JD, Kakiailatu NJM, Kuil LE, Antanaviciute A, Sacchetti A, MacKenzie KC, Peulen-Zink J, Kan TW, Bindels E, de Pater E, Doukas M, van den Bosch TPP, Yousefi S, Barakat TS, Meeussen CJHM, <i>et al.<\/i> Human enteric glia diversity in health and disease: New avenues for the treatment of Hirschsprung disease. Gastroenterology. 2025; 168:965-979.e12.","DOI":"10.1053\/j.gastro.2024.12.011"},{"key":"47","doi-asserted-by":"crossref","unstructured":"47. Li L, Zhang Y, Zhou J, Wang J, Wang L. Single-cell metabolomics in rare disease: From technology to disease. Intractable Rare Dis Res. 2024; 13:99-103.","DOI":"10.5582\/irdr.2023.01073"},{"key":"48","doi-asserted-by":"crossref","unstructured":"48. Price CE, Valls RA, Ramsey AR, Loeven NA, Jones JT, Barrack KE, Schwartzman JD, Royce DB, Cramer RA, Madan JC, Ross BD, Bliska J, O&apos;Toole GA. Intestinal Bacteroides modulates inflammation, systemic cytokines, and microbial ecology <i>via<\/i> propionate in a mouse model of cystic fibrosis. mBio. 2024; 15:e0314423.","DOI":"10.1128\/mbio.03144-23"},{"key":"49","doi-asserted-by":"crossref","unstructured":"49. Karako K, Tang W. Applications of and issues with machine learning in medicine: Bridging the gap with explainable AI. Biosci Trends. 2025; 18:497-504.","DOI":"10.5582\/bst.2024.01342"}],"container-title":["Intractable &amp; Rare Diseases Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/irdr\/14\/4\/14_2025.01080\/_pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,6]],"date-time":"2025-12-06T04:42:08Z","timestamp":1764996128000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/irdr\/14\/4\/14_2025.01080\/_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,11,30]]},"references-count":49,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2025]]}},"URL":"https:\/\/doi.org\/10.5582\/irdr.2025.01080","relation":{},"ISSN":["2186-361X","2186-3644"],"issn-type":[{"type":"electronic","value":"2186-361X"},{"type":"print","value":"2186-3644"}],"subject":[],"published":{"date-parts":[[2025,11,30]]},"article-number":"2025.01080"}}