162 related articles for article (PubMed ID: 27875355)
1. Novel Mutations in EPCAM Cause Congenital Tufting Enteropathy.
Tang W; Huang T; Xu Z; Huang Y
J Clin Gastroenterol; 2018 Jan; 52(1):e1-e6. PubMed ID: 27875355
[TBL] [Abstract][Full Text] [Related]
2. Genetic analysis of Italian patients with congenital tufting enteropathy.
d'Apolito M; Pisanelli D; Faletra F; Giardino I; Gigante M; Pettoello-Mantovani M; Goulet O; Gasparini P; Campanozzi A
World J Pediatr; 2016 May; 12(2):219-24. PubMed ID: 26684320
[TBL] [Abstract][Full Text] [Related]
3. Enteroids expressing a disease-associated mutant of EpCAM are a model for congenital tufting enteropathy.
Das B; Okamoto K; Rabalais J; Kozan PA; Marchelletta RR; McGeough MD; Durali N; Go M; Barrett KE; Das S; Sivagnanam M
Am J Physiol Gastrointest Liver Physiol; 2019 Nov; 317(5):G580-G591. PubMed ID: 31433211
[TBL] [Abstract][Full Text] [Related]
4. Functional consequences of EpCam mutation in mice and men.
Mueller JL; McGeough MD; Peña CA; Sivagnanam M
Am J Physiol Gastrointest Liver Physiol; 2014 Feb; 306(4):G278-88. PubMed ID: 24337010
[TBL] [Abstract][Full Text] [Related]
5. mTrop1/Epcam knockout mice develop congenital tufting enteropathy through dysregulation of intestinal E-cadherin/β-catenin.
Guerra E; Lattanzio R; La Sorda R; Dini F; Tiboni GM; Piantelli M; Alberti S
PLoS One; 2012; 7(11):e49302. PubMed ID: 23209569
[TBL] [Abstract][Full Text] [Related]
6. EPCAM mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome.
Pathak SJ; Mueller JL; Okamoto K; Das B; Hertecant J; Greenhalgh L; Cole T; Pinsk V; Yerushalmi B; Gurkan OE; Yourshaw M; Hernandez E; Oesterreicher S; Naik S; Sanderson IR; Axelsson I; Agardh D; Boland CR; Martin MG; Putnam CD; Sivagnanam M
Hum Mutat; 2019 Feb; 40(2):142-161. PubMed ID: 30461124
[TBL] [Abstract][Full Text] [Related]
7. Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form.
Salomon J; Goulet O; Canioni D; Brousse N; Lemale J; Tounian P; Coulomb A; Marinier E; Hugot JP; Ruemmele F; Dufier JL; Roche O; Bodemer C; Colomb V; Talbotec C; Lacaille F; Campeotto F; Cerf-Bensussan N; Janecke AR; Mueller T; Koletzko S; Bonnefont JP; Lyonnet S; Munnich A; Poirier F; Smahi A
Hum Genet; 2014 Mar; 133(3):299-310. PubMed ID: 24142340
[TBL] [Abstract][Full Text] [Related]
8. Liver Pathology, Including MOC31 Immunohistochemistry, in Congenital Tufting Enteropathy.
Chen S; Goldsmith JD; Fawaz R; Al-Ibraheemi A; Perez-Atayde AR; Vargas SO
Am J Surg Pathol; 2021 Aug; 45(8):1091-1097. PubMed ID: 33756496
[TBL] [Abstract][Full Text] [Related]
9. Genomic analysis of an infant with intractable diarrhea and dilated cardiomyopathy.
Bodian DL; Vilboux T; Hourigan SK; Jenevein CL; Mani H; Kent KC; Khromykh A; Solomon BD; Hauser NS
Cold Spring Harb Mol Case Stud; 2017 Nov; 3(6):. PubMed ID: 28701297
[TBL] [Abstract][Full Text] [Related]
10. Aberrant Epithelial Differentiation Contributes to Pathogenesis in a Murine Model of Congenital Tufting Enteropathy.
Das B; Okamoto K; Rabalais J; Young JA; Barrett KE; Sivagnanam M
Cell Mol Gastroenterol Hepatol; 2021; 12(4):1353-1371. PubMed ID: 34198013
[TBL] [Abstract][Full Text] [Related]
11. Congenital Tufting Enteropathy-Associated Mutant of Epithelial Cell Adhesion Molecule Activates the Unfolded Protein Response in a Murine Model of the Disease.
Das B; Okamoto K; Rabalais J; Marchelletta RR; Barrett KE; Das S; Niwa M; Sivagnanam M
Cells; 2020 Apr; 9(4):. PubMed ID: 32290509
[TBL] [Abstract][Full Text] [Related]
12. Identification of EpCAM as the gene for congenital tufting enteropathy.
Sivagnanam M; Mueller JL; Lee H; Chen Z; Nelson SF; Turner D; Zlotkin SH; Pencharz PB; Ngan BY; Libiger O; Schork NJ; Lavine JE; Taylor S; Newbury RO; Kolodner RD; Hoffman HM
Gastroenterology; 2008 Aug; 135(2):429-37. PubMed ID: 18572020
[TBL] [Abstract][Full Text] [Related]
13. A novel nonsense mutation in the EpCAM gene in a patient with congenital tufting enteropathy.
Thoeni C; Amir A; Guo C; Zhang S; Avitzur Y; Heng YM; Cutz E; Muise AM
J Pediatr Gastroenterol Nutr; 2014 Jan; 58(1):18-21. PubMed ID: 24048167
[TBL] [Abstract][Full Text] [Related]
14. Matriptase drives early-onset intestinal failure in a mouse model of congenital tufting enteropathy.
Szabo R; Callies LK; Bugge TH
Development; 2019 Nov; 146(22):. PubMed ID: 31628112
[TBL] [Abstract][Full Text] [Related]
15. Outcome associated with EPCAM founder mutation c.499dup in Qatar.
Hassan K; Sher G; Hamid E; Hazima KA; Abdelrahman H; Al Mudahka F; Al-Masri W; Sankar J; Daryaee M; Shawish R; Khan MA; Nawaz Z
Eur J Med Genet; 2020 Oct; 63(10):104023. PubMed ID: 32735948
[TBL] [Abstract][Full Text] [Related]
16. Homozygous Missense Epithelial Cell Adhesion Molecule Variant in a Patient with Congenital Tufting Enteropathy and Literature Review.
Güvenoğlu M; Şimşek-Kiper PÖ; Koşukcu C; Taskiran EZ; Saltık-Temizel İN; Gucer S; Utine E; Boduroğlu K
Pediatr Gastroenterol Hepatol Nutr; 2022 Nov; 25(6):441-452. PubMed ID: 36451688
[TBL] [Abstract][Full Text] [Related]
17. Tufting Enteropathy with EpCAM Mutations in Two Siblings.
Ko JS; Seo JK; Shim JO; Hwang SH; Park HS; Kang GH
Gut Liver; 2010 Sep; 4(3):407-10. PubMed ID: 20981223
[TBL] [Abstract][Full Text] [Related]
18. New mutations of
AlMahamed S; Hammo A
Saudi J Gastroenterol; 2017; 23(2):123-126. PubMed ID: 28361844
[TBL] [Abstract][Full Text] [Related]
19. Kocuria kristinae-caused sepsis in an infant with congenital tufting enteropathy.
Aydin M; Ganschow R; Jankofsky M
Turk J Pediatr; 2017; 59(1):93-96. PubMed ID: 29168373
[TBL] [Abstract][Full Text] [Related]
20. Congenital Tufting Enteropathy: Biology, Pathogenesis and Mechanisms.
Das B; Sivagnanam M
J Clin Med; 2020 Dec; 10(1):. PubMed ID: 33374714
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]