相似文献
1
Case of syndromic tufting enteropathy harbors SPINT2 mutation seen in congenital sodium diarrhea.患有综合征性簇绒性肠病的病例存在先天性钠腹泻中所见的SPINT2突变。
Clin Dysmorphol. 2010 Jan;19(1):48. doi: 10.1097/MCD.0b013e328331de38.
2
Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form.先天性丛状肠病的遗传学特征：EPCAM 相关表型和 SPINT2 参与综合征型。
Hum Genet. 2014 Mar;133(3):299-310. doi: 10.1007/s00439-013-1380-6. Epub 2013 Oct 19.
3
Genetic analysis of Italian patients with congenital tufting enteropathy.先天性丛状肠病意大利患者的遗传学分析。
World J Pediatr. 2016 May;12(2):219-24. doi: 10.1007/s12519-015-0070-y. Epub 2015 Dec 18.
4
Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea.SPINT2基因的突变会导致一种综合征形式的先天性钠腹泻。
Am J Hum Genet. 2009 Feb;84(2):188-96. doi: 10.1016/j.ajhg.2009.01.004. Epub 2009 Jan 29.
5
Congenital sodium diarrhea and chorioretinal coloboma with optic disc coloboma in a patient with biallelic SPINT2 mutations, including p.(Tyr163Cys).一名双等位基因SPINT2突变（包括p.(Tyr163Cys)）患者出现先天性钠腹泻、脉络膜视网膜缺损合并视盘缺损。
Am J Med Genet A. 2018 Apr;176(4):997-1000. doi: 10.1002/ajmg.a.38637.
6
Biallelic variants of the first Kunitz domain of SPINT2 cause a non-syndromic form of congenital diarrhea and tufting enteropathy.SPINT2第一个Kunitz结构域的双等位基因变异导致一种非综合征型先天性腹泻和簇状肠病。
Am J Med Genet A. 2024 Mar;194(3):e63474. doi: 10.1002/ajmg.a.63474. Epub 2023 Nov 13.
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SPINT2 (HAI-2) missense variants identified in congenital sodium diarrhea/tufting enteropathy affect the ability of HAI-2 to inhibit prostasin but not matriptase.在先天性钠腹泻/发结性肠病中发现的 SPINT2 (HAI-2) 错义变体影响 HAI-2 抑制前列腺蛋白酶原的能力，但不影响组织蛋白酶抑制剂的能力。
Hum Mol Genet. 2019 Mar 1;28(5):828-841. doi: 10.1093/hmg/ddy394.
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Syndromic congenital diarrhea because of the SPINT2 mutation showing enterocyte tufting and unique electron microscopy findings.因SPINT2突变导致的综合征性先天性腹泻，表现为肠上皮细胞簇状改变及独特的电子显微镜检查结果。
Clin Dysmorphol. 2013 Jul;22(3):118-120. doi: 10.1097/MCD.0b013e328361d42f.
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Syndromic congenital diarrhoea: new SPINT2 mutation identified in the UAE.综合征性先天性腹泻：在阿联酋发现新的SPINT2突变
BMJ Case Rep. 2017 Jul 16;2017:bcr-2016-217464. doi: 10.1136/bcr-2016-217464.
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Isolated choanal and gut atresias: pathogenetic role of serine protease inhibitor type 2 (SPINT2) gene mutations unlikely.孤立性后鼻孔和肠道闭锁：丝氨酸蛋白酶抑制剂 2 型（SPINT2）基因突变的致病作用不太可能。
Eur J Med Res. 2018 Mar 2;23(1):13. doi: 10.1186/s40001-018-0312-2.
引用本文的文献
1
Emerging Applications of EpCAM-Targeted Nuclear Medicine Probes: Current Research and Future Perspectives.EpCAM靶向核医学探针的新兴应用：当前研究与未来展望
Int J Nanomedicine. 2025 Sep 4;20:10815-10830. doi: 10.2147/IJN.S539010. eCollection 2025.
2
SPINT2 mutations in the Kunitz domain 2 found in SCSD patients inactivate HAI-2 as prostasin inhibitor via abnormal protein folding and N-glycosylation.在 SCSD 患者中发现的丝氨酸蛋白酶抑制剂 2（SPINT2）Kunitz 结构域 2 中的突变通过异常蛋白折叠和 N-糖基化使前列腺蛋白酶抑制剂 HAI-2 失活。
Hum Mol Genet. 2024 Apr 18;33(9):752-767. doi: 10.1093/hmg/ddae005.
3
Congenital Tufting Enteropathy, a Rare Cause of Diarrhea and Malnourishment in Arab Child with Genetic and Histopathology Investigations.先天性簇状绒毛肠病，阿拉伯儿童腹泻和营养不良的罕见病因及基因与组织病理学研究
Case Rep Pediatr. 2023 Jan 25;2023:6301065. doi: 10.1155/2023/6301065. eCollection 2023.
4
N-glycosylation on Asn-57 is required for the correct HAI-2 protein folding and protease inhibitory activity.Asn-57 上的 N-糖基化对于正确的 HAI-2 蛋白折叠和蛋白酶抑制活性是必需的。
Glycobiology. 2023 Apr 19;33(3):203-214. doi: 10.1093/glycob/cwad002.
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Homozygous Missense Epithelial Cell Adhesion Molecule Variant in a Patient with Congenital Tufting Enteropathy and Literature Review.一名先天性簇状肠病患者的纯合错义上皮细胞粘附分子变异及文献综述
Pediatr Gastroenterol Hepatol Nutr. 2022 Nov;25(6):441-452. doi: 10.5223/pghn.2022.25.6.441. Epub 2022 Nov 2.
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The genetics of monogenic intestinal epithelial disorders.单基因肠道上皮细胞紊乱的遗传学。
Hum Genet. 2023 May;142(5):613-654. doi: 10.1007/s00439-022-02501-5. Epub 2022 Nov 23.
7
A novel SPINT2 missense mutation causes syndromic congenital sodium diarrhea.一种新的SPINT2错义突变导致综合征性先天性钠腹泻。
World J Pediatr. 2022 Dec;18(12):861-865. doi: 10.1007/s12519-022-00613-6. Epub 2022 Sep 19.
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Three Novel Variants Causing Tufting Enteropathy in Three Families.三个家庭中导致簇绒性肠病的三种新变体
Children (Basel). 2021 Jun 14;8(6):503. doi: 10.3390/children8060503.
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Targeted HAI-2 deletion causes excessive proteolysis with prolonged active prostasin and depletion of HAI-1 monomer in intestinal but not epidermal epithelial cells.靶向 HAI-2 缺失导致肠道而非表皮上皮细胞中过度蛋白水解，导致活性前列腺素原延长和 HAI-1 单体耗竭。
Hum Mol Genet. 2021 Sep 15;30(19):1833-1850. doi: 10.1093/hmg/ddab150.
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Congenital Tufting Enteropathy: Biology, Pathogenesis and Mechanisms.先天性簇绒性小肠病：生物学、发病机制及原理
J Clin Med. 2020 Dec 23;10(1):19. doi: 10.3390/jcm10010019.
本文引用的文献
1
Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea.SPINT2基因的突变会导致一种综合征形式的先天性钠腹泻。
Am J Hum Genet. 2009 Feb;84(2):188-96. doi: 10.1016/j.ajhg.2009.01.004. Epub 2009 Jan 29.
2
MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity.肌球蛋白Ⅴb（MYO5B）突变导致微绒毛包涵体病并破坏上皮细胞极性。
Nat Genet. 2008 Oct;40(10):1163-5. doi: 10.1038/ng.225. Epub 2008 Aug 24.
3
Identification of EpCAM as the gene for congenital tufting enteropathy.鉴定EpCAM为先天性簇状肠病的致病基因。
Gastroenterology. 2008 Aug;135(2):429-37. doi: 10.1053/j.gastro.2008.05.036. Epub 2008 May 15.
4
A new syndrome of tufting enteropathy and choanal atresia, with ophthalmologic, hematologic and hair abnormalities.一种伴有眼科、血液学及毛发异常的簇状肠病和后鼻孔闭锁新综合征。
Clin Dysmorphol. 2007 Oct;16(4):211-21. doi: 10.1097/MCD.0b013e328274264b.
5
Congenital sodium diarrhea is an autosomal recessive disorder of sodium/proton exchange but unrelated to known candidate genes.先天性钠腹泻是一种钠/质子交换的常染色体隐性疾病，但与已知的候选基因无关。
Gastroenterology. 2000 Dec;119(6):1506-13. doi: 10.1053/gast.2000.20514.
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