321 related articles for article (PubMed ID: 30461124)
1. 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]
2. 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]
3. 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]
4. 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]
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. 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]
7. 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]
8. 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]
9. Frequency of rearrangements in Lynch syndrome cases associated with MSH2: characterization of a new deletion involving both EPCAM and the 5' part of MSH2.
Pérez-Cabornero L; Infante Sanz M; Velasco Sampedro E; Lastra Aras E; Acedo Becares A; Miner Pino C; Durán Domínguez M
Cancer Prev Res (Phila); 2011 Oct; 4(10):1556-62. PubMed ID: 21791569
[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. Amelioration of Congenital Tufting Enteropathy in EpCAM (TROP1)-Deficient Mice via Heterotopic Expression of TROP2 in Intestinal Epithelial Cells.
Nakato G; Morimura S; Lu M; Feng X; Wu C; Udey MC
Cells; 2020 Aug; 9(8):. PubMed ID: 32781650
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. 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]
15. Toward a better definition of EPCAM deletions in Lynch Syndrome: Report of new variants in Italy and the associated molecular phenotype.
Cini G; Quaia M; Canzonieri V; Fornasarig M; Maestro R; Morabito A; D'Elia AV; Urso ED; Mammi I; Viel A
Mol Genet Genomic Med; 2019 May; 7(5):e587. PubMed ID: 30916491
[TBL] [Abstract][Full Text] [Related]
16. Frequency of deletions of EPCAM (TACSTD1) in MSH2-associated Lynch syndrome cases.
Rumilla K; Schowalter KV; Lindor NM; Thomas BC; Mensink KA; Gallinger S; Holter S; Newcomb PA; Potter JD; Jenkins MA; Hopper JL; Long TI; Weisenberger DJ; Haile RW; Casey G; Laird PW; Le Marchand L; Thibodeau SN
J Mol Diagn; 2011 Jan; 13(1):93-9. PubMed ID: 21227399
[TBL] [Abstract][Full Text] [Related]
17. 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]
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. Analysis of EPCAM protein expression in diagnostics of Lynch syndrome.
Kloor M; Voigt AY; Schackert HK; Schirmacher P; von Knebel Doeberitz M; Bläker H
J Clin Oncol; 2011 Jan; 29(2):223-7. PubMed ID: 21115857
[TBL] [Abstract][Full Text] [Related]
20. Usefulness of epithelial cell adhesion molecule expression in the algorithmic approach to Lynch syndrome identification.
Musulen E; Blanco I; Carrato C; Fernandez-Figueras MT; Pineda M; Capella G; Ariza A
Hum Pathol; 2013 Mar; 44(3):412-6. PubMed ID: 23026194
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]