ReviewJournal of clinical medicine2020
Congenital Tufting Enteropathy: Biology, Pathogenesis and Mechanisms.
Review in Journal of clinical medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
What it found
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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
16 citing papers in PubMed, 34 citations in OpenAlex.
- Organoid-based systems for biomedical innovation: advances in disease modeling, drug screening, and precision medicine.Naunyn-Schmiedeberg's archives of pharmacology · 2026Review
- EpCAM deficiency causes the inflammation of lungs due to the reduction of pIgR in airway epithelium.Respiratory research · 2026Article
- Intestinal and Multivisceral Transplantation: Where We Stand Today.Pediatric transplantation · 2026Review
- Epithelial tension controls intestinal cell extrusion.Science (New York, N.Y.) · 2025Article
- Paediatric Congenital Enteropathies: Clinical and Histological Review.Diagnostics (Basel, Switzerland) · 2025Review
- Cellular and molecular basis of proximal small intestine disorders.Nature reviews. Gastroenterology & hepatology · 2024Review
- Pediatric Chronic Intestinal Failure: Something Moving?Nutrients · 2024Review
- Three patients with new mutations in theTranslational pediatrics · 2024Article
- Approach to Congenital Diarrhea and Enteropathies (CODEs).Indian journal of pediatrics · 2024Review
- The genetics of monogenic intestinal epithelial disorders.Human genetics · 2023Review
- A novel tool for the unbiased characterization of epithelial monolayer development in culture.Molecular biology of the cell · 2023Article
- Parenteral Nutrition in Pediatric Patients with Neurodisability: Current Perspectives.Pediatric health, medicine and therapeutics · 2023Review
- A novel compound-heterozygous EPCAM mutation in congenital tufting enteropathy.Archives of medical science : AMS · 2022Article
- EpCAM Is Essential to Maintaining the Immune Homeostasis of IntestinesFrontiers in immunology · 2022Article
- Functional Implications of the Dynamic Regulation of EpCAM during Epithelial-to-Mesenchymal Transition.Biomolecules · 2021Review
- Three NovelChildren (Basel, Switzerland) · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Congenital tufting enteropathy (CTE) is an autosomal recessive disease of infancy that causes severe intestinal failure with electrolyte imbalances and impaired growth. CTE is typically diagnosed by its characteristic histological features, including villous atrophy, crypt hyperplasia and focal epithelial tufts consisting of densely packed enterocytes. Mutations in the EPCAM and SPINT2 genes have been identified as the etiology for this disease. The significant morbidity and mortality and lack of direct treatments for CTE patients demand a better understanding of disease pathophysiology. Here, the latest knowledge of CTE biology is systematically reviewed, including clinical aspects, disease genetics, and research model systems. Particular focus is paid to the pathogenesis of CTE and predicted mechanisms of the disease as these would provide insight for future therapeutic options. The contribution of intestinal homeostasis, including the role of intestinal cell differentiation, defective enterocytes, disrupted barrier and cell-cell junction, and cell-matrix adhesion, is vividly described here (see Graphical Abstract). Moreover, based on the known dynamics of EpCAM signaling, potential mechanistic pathways are highlighted that may contribute to the pathogenesis of CTE due to either loss of EpCAM function or EpCAM mutation. Although not fully elucidated, these pathways provide an improved understanding of this devastating disease.
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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.