[1]曲志博,马达.先天性巨结肠干细胞治疗的研究进展[J].临床小儿外科杂志,2023,22(12):1197-1201.[doi:10.3760/cma.j.cn101785-202308039-019]
 Qu Zhibo,Ma Da.Recent advances of stem cell therapy for Hirschsprung’s disease[J].Journal of Clinical Pediatric Surgery,2023,22(12):1197-1201.[doi:10.3760/cma.j.cn101785-202308039-019]
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先天性巨结肠干细胞治疗的研究进展

参考文献/References:

[1] 翟威,刘远梅.神经嵴细胞迁移障碍在先天性巨结肠发病中的作用研究进展[J].中华小儿外科杂志,2023,44(1):87-91.DOI:10.3760/cma.j.cn421158-20220711-00485. Zhai W,Liu YM.Research advances on the role of neural crest cell migration disorder in Hirschsprung’s disease[J].Chin J Pediatr Surg,2023,44(1):87-91.DOI:10.3760/cma.j.cn421158-20220711-00485.
[2] Bradnock TJ,Knight M,Kenny S,et al.Hirschsprung’s disease in the UK and Ireland:incidence and anomalies[J].Arch Dis Child,2017,102(8):722-727.DOI:10.1136/archdischild-2016-311872.
[3] 曾纪晓,徐晓钢.先天性巨结肠诊疗规范化的再思考[J].临床小儿外科杂志,2021,20(3):201-207.DOI:10.12260/lcxewkzz.2021.03.001. Zeng JX,Xu XG.Some focal issues of standardizing the diagnosis and treatment of Hirschsprung’s disease[J].J Clin Ped Sur,2021,20(3):201-207.DOI:10.12260/lcxewkzz.2021.03.001.
[4] 李颀,张震,李龙.先天性巨结肠再次手术的技术和思考[J].临床小儿外科杂志,2021,20(3):208-211.DOI:10.12260/lcxewkzz.2021.03.002. Li Q,Zhang Z,Li L.Techniques and considerations of re-operations for Hirschsprung’s disease[J].J Clin Ped Sur,2021,20(3):208-211.DOI:10.12260/lcxewkzz.2021.03.002.
[5] 王吉,李智.先天性巨结肠非手术治疗研究进展[J].临床小儿外科杂志,2022,21(2):186-190.DOI:10.3760/cma.j.cn.101785-202104064-016. Wang J,Li Z.Recent advances of non-surgical treatment of Hirschsprung’s disease[J].J Clin Ped Sur,2022,21(2):186-190.DOI:10.3760/cma.j.cn.101785-202104064-016.
[6] Shellard A,Mayor R.Integrating chemical and mechanical signals in neural crest cell migration[J].Curr Opin Genet Dev,2019,57:16-24.DOI:10.1016/j.gde.2019.06.004.
[7] Schriemer D,Sribudiani Y,IJpma A,et al.Regulators of gene expression in enteric neural crest cells are putative Hirschsprung disease genes[J].Dev Biol,2016,416(1):255-265.DOI:10.1016/j.ydbio.2016.06.004.
[8] Gui HS,Schriemer D,Cheng WW,et al.Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes[J].Genome Biol,2017,18(1):48.DOI:10.1186/s13059-017-1174-6.
[9] Szabó A,Mayor R.Mechanisms of neural crest migration[J].Annu Rev Genet,2018,52:43-63.DOI:10.1146/annurev-genet-120417-031559.
[10] Sánchez MP,Silos-Santiago I,Frisén J,et al.Renal agenesis and the absence of enteric neurons in mice lacking GDNF[J].Nature,1996,382(6586):70-73.DOI:10.1038/382070a0.
[11] Ji Y,Tam PKH,Tang CSM.Roles of enteric neural stem cell niche and enteric nervous system development in Hirschsprung disease[J].Int J Mol Sci,2021,22(18):9659.DOI:10.3390/ijms22189659.
[12] Roberto GM,Emery G.Directing with restraint:mechanisms of protrusion restriction in collective cell migrations[J].Semin Cell Dev Biol,2022,129:75-81.DOI:10.1016/j.semcdb.2022.03.037.
[13] Heuckeroth RO,Sch?fer KH.Gene-environment interactions and the enteric nervous system:neural plasticity and Hirschsprung disease prevention[J].Dev Biol,2016,417(2):188-197.DOI:10.1016/j.ydbio.2016.03.017.
[14] Alhawaj AF.Stem cell-based therapy for Hirschsprung disease,do we have the guts to treat?[J].Gene Ther,2022,29(10/11):578-587.DOI:10.1038/s41434-021-00268-4.
[15] Alves MM,Sribudiani Y,Brouwer RWW,et al.Contribution of rare and common variants determine complex diseases-Hirschsprung disease as a model[J].Dev Biol,2013,382(1):320-329.DOI:10.1016/j.ydbio.2013.05.019.
[16] Tilghman JM,Ling AY,Turner TN,et al.Molecular genetic anatomy and risk profile of Hirschsprung’s disease[J].N Engl J Med,2019,380(15):1421-1432.DOI:10.1056/NEJMoa1706594.
[17] Yang DH,Yang J,Li S,et al.Effects of RET,NRG1 and NRG3 polymorphisms in a Chinese population with Hirschsprung disease[J].Sci Rep,2017,7:43222.DOI:10.1038/srep43222.
[18] Kim JH,Cheong HS,Sul JH,et al.A genome-wide association study identifies potential susceptibility loci for Hirschsprung disease[J].PLoS One,2014,9(10):e110292.DOI:10.1371/journal.pone.0110292.
[19] Torroglosa A,Villalba-Benito L,Luzón-Toro B,et al.Epigenetic mechanisms in Hirschsprung disease[J].Int J Mol Sci,2019,20(13):3123.DOI:10.3390/ijms20133123.
[20] Thakkar HS,Bassett C,Hsu A,et al.Functional outcomes in Hirschsprung disease:a single institution’s 12-year experience[J].J Pediatr Surg,2017,52(2):277-280.DOI:10.1016/j.jpedsurg.2016.11.023.
[21] Burns AJ,Thapar N.Neural stem cell therapies for enteric nervous system disorders[J].Nat Rev Gastroenterol Hepatol,2014,11(5):317-328.DOI:10.1038/nrgastro.2013.226.
[22] Obermayr F,Seitz G.Recent developments in cell-based ENS regeneration-a short review[J].Innov Surg Sci,2018,3(2):93-99.DOI:10.1515/iss-2018-0005.
[23] Lai FPL,Lau ST,Wong JKL,et al.Correction of Hirschsprung-associated mutations in human induced pluripotent stem cells via clustered regularly interspaced short palindromic repeats/Cas9,restores neural crest cell function[J].Gastroenterology,2017,153(1):139-153.e8.DOI:10.1053/j.gastro.2017.03.014.
[24] Barber K,Studer L,Fattahi F.Derivation of enteric neuron lineages from human pluripotent stem cells[J].Nat Protoc,2019,14(4):1261-1279.DOI:10.1038/s41596-019-0141-y.
[25] Fattahi F,Steinbeck JA,Kriks S,et al.Deriving human ENS lineages for cell therapy and drug discovery in Hirschsprung disease[J].Nature,2016,531(7592):105-109.DOI:10.1038/nature16951.
[26] Kobayashi GS,Musso CM,de Paula Moreira D,et al.Recapitulation of neural crest specification and EMT via induction from neural plate border-like cells[J].Stem Cell Reports,2020,15(3):776-788.DOI:10.1016/j.stemcr.2020.07.023.
[27] Zhang A,Aslam H,Sharma N,et al.Conservation of epithelial-to-mesenchymal transition process in neural crest cells and metastatic cancer[J].Cells Tissues Organs,2021,210(3):151-172.DOI:10.1159/000516466.
[28] Yang J,Antin P,Berx G,et al.Guidelines and definitions for research on epithelial-mesenchymal transition[J].Nat Rev Mol Cell Biol,2020,21(6):341-352.DOI:10.1038/s41580-020-0237-9.
[29] Piacentino ML,Li YW,Bronner ME.Epithelial-to-mesenchymal transition and different migration strategies as viewed from the neural crest[J].Curr Opin Cell Biol,2020,66:43-50.DOI:10.1016/j.ceb.2020.05.001.
[30] Hotta R,Stamp LA,Foong JPP,et al.Transplanted progenitors generate functional enteric neurons in the postnatal colon[J].J Clin Invest,2013,123(3):1182-1191.DOI:10.1172/JCI65963.
[31] Stamp LA,Gwynne RM,Foong JPP,et al.Optogenetic demonstration of functional innervation of mouse colon by neurons derived from transplanted neural cells[J].Gastroenterology,2017,152(6):1407-1418.DOI:10.1053/j.gastro.2017.01.005.
[32] Cooper JE,McCann CJ,Natarajan D,et al.In vivo transplantation of enteric neural crest cells into mouse gut; engraftment,functional integration and long-term safety[J].PLoS One,2016,11(1):e0147989.DOI:10.1371/journal.pone.0147989.
[33] McCann CJ,Cooper JE,Natarajan D,et al.Transplantation of enteric nervous system stem cells rescues nitric oxide synthase deficient mouse colon[J].Nat Commun,2017,8:15937.DOI:10.1038/ncomms15937.
[34] Cooper JE,Natarajan D,McCann CJ,et al.In vivo transplantation of fetal human gut-derived enteric neural crest cells[J].Neurogastroenterol Motil,2017,29(1):e12900.DOI:10.1111/nmo.12900.
[35] Lee AS,Tang C,Rao MS,et al.Tumorigenicity as a clinical hurdle for pluripotent stem cell therapies[J].Nat Med,2013,19(8):998-1004.DOI:10.1038/nm.3267.
[36] Prokhorova TA,Harkness LM,Frandsen U,et al.Teratoma formation by human embryonic stem cells is site dependent and enhanced by the presence of Matrigel[J].Stem Cells Dev,2009,18(1):47-54.DOI:10.1089/scd.2007.0266.
[37] Li WQ,Xiang AP.Safeguarding clinical translation of pluripotent stem cells with suicide genes[J].Organogenesis,2013,9(1):34-39.DOI:10.4161/org.24317.
[38] Itakura G,Kawabata S,Ando M,et al.Fail-safe system against potential tumorigenicity after transplantation of iPSC derivatives[J].Stem Cell Reports,2017,8(3):673-684.DOI:10.1016/j.stemcr.2017.02.003.
[39] Rollo BN,Zhang DC,Stamp LA,et al.Enteric neural cells from Hirschsprung disease patients form ganglia in autologous aneuronal colon[J].Cell Mol Gastroenterol Hepatol,2016,2(1):92-109.DOI:10.1016/j.jcmgh.2015.09.007.
[40] Burns AJ,Goldstein AM,Newgreen DF,et al.White paper on guidelines concerning enteric nervous system stem cell therapy for enteric neuropathies[J].Dev Biol,2016,417(2):229-251.DOI:10.1016/j.ydbio.2016.04.001.
[41] McCann CJ,Alves MM,Brosens E,et al.Neuronal development and onset of electrical activity in the human enteric nervous system[J].Gastroenterology,2019,156(5):1483-1495.e6.DOI:10.1053/j.gastro.2018.12.020.
[42] Yeh CD,Richardson CD,Corn JE.Advances in genome editing through control of DNA repair pathways[J].Nat Cell Biol,2019,21(12):1468-1478.DOI:10.1038/s41556-019-0425-z.
[43] Anzalone AV,Randolph PB,Davis JR,et al.Search-and-replace genome editing without double-strand breaks or donor DNA[J].Nature,2019,576(7785):149-157.DOI:10.1038/s41586-019-1711-4.
[44] Ginn SL,Amaya AK,Alexander IE,et al.Gene therapy clinical trials worldwide to 2017:an update[J].J Gene Med,2018,20(5):e3015.DOI:10.1002/jgm.3015.
[45] Hacein-Bey-Abina S,Garrigue A,Wang GP,et al.Insertional oncogenesis in 4 patients after retrovirus-mediated gene therapy of SCID-X1[J].J Clin Invest,2008,118(9):3132-3142.DOI:10.1172/JCI35700.
[46] Seimetz D,Heller K,Richter J.Approval of first CAR-Ts:have we solved all hurdles for ATMPs?[J].Cell Med,2019,11:2155179018822781.DOI:10.1177/2155179018822781.
[47] Natarajan D,Cooper J,Choudhury S,et al.Lentiviral labeling of mouse and human enteric nervous system stem cells for regenerative medicine studies[J].Neurogastroenterol Motil,2014,26(10):1513-1518.DOI:10.1111/nmo.12420.
[48] Tsai YH,Murakami N,Gariepy CE.Postnatal intestinal engraftment of prospectively selected enteric neural crest stem cells in a rat model of Hirschsprung disease[J].Neurogastroenterol Motil,2011,23(4):362-369.DOI:10.1111/j.1365-2982.2010.01656.x.
[49] Cheng LS,Hotta R,Graham HK,et al.Endoscopic delivery of enteric neural stem cells to treat Hirschsprung disease[J].Neurogastroenterol Motil,2015,27(10):1509-1514.DOI:10.1111/nmo.12635.
[50] Fujiwara N,Nakazawa-Tanaka N,Yamataka A.Animal models of Hirschsprung’s disease:state of the art in translating experimental research to the bedside[J].Eur J Pediatr Surg,2019,29(4):361-367.DOI:10.1055/s-0039-1694745.
[51] Volarevic V,Markovic BS,Gazdic M,et al.Ethical and safety issues of stem cell-based therapy[J].Int J Med Sci,2018,15(1):36-45.DOI:10.7150/ijms.21666.
[52] Brosens E,Burns AJ,Brooks AS,et al.Genetics of enteric neuropathies[J].Dev Biol,2016,417(2):198-208.DOI:10.1016/j.ydbio.2016.07.008.
[53] Widyasari A,Pavitasari WA,Dwihantoro A,et al.Functional outcomes in Hirschsprung disease patients after transabdominal Soave and Duhamel procedures[J].BMC Gastroenterol,2018,18(1):56.DOI:10.1186/s12876-018-0783-1.

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备注/Memo

收稿日期:2023-8-28。
基金项目:东莞市社会发展重点项目(201950715028167;20221800905372;20231800939942)
通讯作者:马达,Email:804103064@qq.com

更新日期/Last Update: 1900-01-01