ArticleInflammatory bowel diseases2016
Increased Prevalence of Inflammatory Bowel Disease in Patients with Mutations in Genes Encoding the Receptor Subunits for TGFβ.
Article in Inflammatory bowel diseases, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 20 citations in OpenAlex.
- Extensive genomic diversity in Desulfovibrio reveals species-specific functional traits associated with disease.Nature communications · 2026Article
- Review
- Diagnosis and Management of Loeys-Dietz Syndrome: Evidence Gaps and Future Directions.Current cardiology reports · 2026Review
- Adalimumab-responsive Monogenic Inflammatory Bowel Disease With Pseudopolyposis Characteristic ofDEN open · 2026Article
- Intestinal epithelial Smad7 drives purine metabolic dysregulation and ileal inflammation.Journal of biomedical science · 2026Article
- From Polymorphisms to Phenotypes:Genes · 2025Article
- Ileal Desmoid Tumor in Ileal Crohn's: Coincidence or Connection?Digestive diseases and sciences · 2023Article
- Smad7 Antisense Oligonucleotide in Crohn's Disease: A Re-Evaluation and Explanation for the Discordant Results of Clinical Trials.Pharmaceutics · 2022Article
- Therapeutic Approach of Very Early-Onset Inflammatory Bowel Disease in a Loeys-Dietz Syndrome Child.JPGN reports · 2022Article
- Predictors of low bone density and fracture risk in Loeys-Dietz syndrome.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Article
- Dysregulation of the immune response in TGF-β signalopathies.Frontiers in immunology · 2022Review
- Loss of MMR and TGFBR2 Increases the Susceptibility to Microbiota-Dependent Inflammation-Associated Colon Cancer.Cellular and molecular gastroenterology and hepatology · 2022Article
- Intestinal immunoregulation: lessons from human mendelian diseases.Mucosal immunology · 2021Review
- Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation.American journal of human genetics · 2021Article
- Safety and outcome of gastrostomy tube placement in patients with Loeys-Dietz syndrome.BMC gastroenterology · 2020Article
- Pathogenic effect of a TGFBR1 mutation in a family with Loeys-Dietz syndrome.Molecular genetics & genomic medicine · 2019Article
- Very early-onset inflammatory bowel disease: an integrated approach.Current opinion in allergy and clinical immunology · 2018Review
- Attenuation of Myeloid-Specific TGFβ Signaling Induces Inflammatory Cerebrovascular Disease and Stroke.Circulation research · 2017Article
Corrections and comments
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Authors and funding
9 authors at 4 institutions in 1 country.
Funding
Abstract
backgroundTGFβ is a multifunctional cytokine that is critical in regulating mucosal immunity. Murine studies have revealed that disruption of canonical TGFβ signaling leads to systemic inflammation including colitis. Loeys-Dietz syndrome (LDS) results from heterozygous mutations in the genes encoding the subunits of the TGFβ receptor.
methodsAll patients with confirmed mutations in TGFBR1 or TGFBR2, seen in the Johns Hopkins Connective Tissue Disorders clinic, were asked to participate in the study. Ninety-three consecutive patients were enrolled, including 4 with inflammatory bowel disease (IBD). Using the Illumina Immunochip array, we undertook an exploratory analysis to evaluate the potential genetic risk factors that could predict which patients with LDS would develop IBD.
resultsWe report an increased prevalence of IBD in patients with LDS types I and II. We describe the course of several patients. In this small sample, the 3 whites with IBD had a genetic risk score in the top 6 highest scores of patients evaluated.
conclusionWe report a 10-fold increase in the prevalence of IBD in patients with LDS compared with the general population. Onset of disease in 3 of the 4 patients was at less than 18 years, and the clinical course in 2 of the 4 was severe with a poor response to traditional medications. Further evaluation of the genetic risk score is needed to determine whether it can predict which patients with LDS are most likely to develop IBD. This case series of patients with LDS with IBD suggests that defective TGFβ signaling may have an influence on IBD risk.
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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.