ArticleHuman molecular genetics2013
Absence of cell-surface EpCAM in congenital tufting enteropathy.
Article in Human molecular genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
31 citing papers in PubMed, 63 citations in OpenAlex.
- Hepatitis C virus core promotes hepatic cancer stem cell formation via β-catenin-mediated EpCAM upregulation.Microbiology spectrum · 2026Article
- Landscape of cancer associated EpCAM mutations: molecular modeling, predictive insights and impact on patient survival.BMC cancer · 2025Article
- Whole exome sequencing reveal 83 novel Mendelian disorders carrier P/LP variants in Chinese adult patients.Journal of human genetics · 2023Article
- Variants in STXBP3 are Associated with Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune Dysregulation.Journal of Crohn's & colitis · 2021Article
- Monogenic mutations in four cases of neonatal-onset watery diarrhea and a mutation review in East Asia.Orphanet journal of rare diseases · 2021Article
- Functional Implications of the Dynamic Regulation of EpCAM during Epithelial-to-Mesenchymal Transition.Biomolecules · 2021Review
- Three NovelChildren (Basel, Switzerland) · 2021Article
- Cancer-associated mutations reveal a novel role for EpCAM as an inhibitor of cathepsin-L and tumor cell invasion.BMC cancer · 2021Article
- EpCAM (CD326) Regulates Intestinal Epithelial Integrity and Stem Cells via Rho-Associated Kinase.Cells · 2021Article
- Congenital Tufting Enteropathy: Biology, Pathogenesis and Mechanisms.Journal of clinical medicine · 2020Review
- Current View on EpCAM Structural Biology.Cells · 2020Review
- Article
- Tufting Enteropathy: A Review of Clinical and Histological Presentation, Etiology, Management, and Outcome.Gastroenterology research and practice · 2020Review
- Enteroids expressing a disease-associated mutant of EpCAM are a model for congenital tufting enteropathy.American journal of physiology. Gastrointestinal and liver physiology · 2019Article
- EPCAM mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome.Human mutation · 2019Article
- Bilateral Total Hip and Unilateral Knee Arthroplasties in a Young Adult with Arthropathy-Associated Intestinal Epithelial Dysplasia (Tufting Enteropathy).Case reports in orthopedics · 2018Article
- Newcomers in paediatric GI pathology: childhood enteropathies including very early onset monogenic IBD.Virchows Archiv : an international journal of pathology · 2018Review
- Regulation of epithelial migration by epithelial cell adhesion molecule requires its Claudin-7 interaction domain.PloS one · 2018Article
- Identification ofClinical case reports · 2017Article
- Genetic analysis of Italian patients with congenital tufting enteropathy.World journal of pediatrics : WJP · 2016Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 4 institutions in 2 countries.
Funding
Abstract
Mutations in the epithelial cell adhesion molecule (EpCAM; CD326) gene are causal for congenital tufting enteropathy (CTE), a disease characterized by intestinal abnormalities resulting in lethal diarrhea in newborns. Why the different mutations all lead to the same disease is not clear. Here, we report that most mutations, including a novel intronic variant, will result in lack of EpCAM's transmembrane domain, whereas two mutations allow transmembrane localization. We find that these mutants are not routed to the plasma membrane, and that truncated mutants are secreted or degraded. Thus, all epcam mutations lead to loss of cell-surface EpCAM, resulting in CTE.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.