ReviewHuman mutation2018
MYO5B, STX3, and STXBP2 mutations reveal a common disease mechanism that unifies a subset of congenital diarrheal disorders: A mutation update.
Review in Human mutation, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 35 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
35 citing papers in PubMed, 60 citations in OpenAlex.
- Long-term clinical trajectory of microvillus inclusion disease associated with STXBP2-related familial hemophagocytic lymphohistiocytosis type 5: A case report.JPEN. Journal of parenteral and enteral nutrition · 2026Article
- Paediatric Congenital Enteropathies: Clinical and Histological Review.Diagnostics (Basel, Switzerland) · 2025Review
- The MYO1B and MYO5B motor proteins and the sorting nexin SNX27 regulate apical targeting of membrane mucin MUC17 in enterocytes.The Biochemical journal · 2025Article
- Cellular and molecular basis of proximal small intestine disorders.Nature reviews. Gastroenterology & hepatology · 2024Review
- Molecular mechanisms of polarized transport to the apical plasma membrane.Frontiers in cell and developmental biology · 2024Review
- Possible involvement of silent mutations in cancer pathogenesis and evolution.Scientific reports · 2023Article
- The genetics of monogenic intestinal epithelial disorders.Human genetics · 2023Review
- Splicing Analysis ofHuman mutation · 2023Article
- Background and roles: myosin in autoimmune diseases.Frontiers in cell and developmental biology · 2023Review
- Gut Microbiota Alterations in Trace Amine-Associated Receptor 9 (TAAR9) Knockout Rats.Biomolecules · 2022Article
- Microbial short-chain fatty acids: a bridge between dietary fibers and poultry gut health - A review.Animal bioscience · 2022Article
- Applications of human organoids in the personalized treatment for digestive diseases.Signal transduction and targeted therapy · 2022Review
- Fetal Bowel Abnormalities Suspected by Ultrasonography in Microvillus Inclusion Disease: Prevalence and Clinical Significance.Journal of clinical medicine · 2022Article
- Microvillus Inclusion Disease: A Rare Mutation of STX3 in Exon 9 Causing Fatal Congenital Diarrheal Disease.Journal of pediatric genetics · 2022Article
- NovelCold Spring Harbor molecular case studies · 2022Article
- Case Report:Frontiers in genetics · 2022Article
- Understanding inborn errors of immunity: A lens into the pathophysiology of monogenic inflammatory bowel disease.Frontiers in immunology · 2022Review
- Monogenic mutations in four cases of neonatal-onset watery diarrhea and a mutation review in East Asia.Orphanet journal of rare diseases · 2021Article
- Intestinal immunoregulation: lessons from human mendelian diseases.Mucosal immunology · 2021Review
- Risk and Clinical Significance of Idiopathic Preterm Birth in Microvillus Inclusion Disease.Journal of clinical medicine · 2021Article
Corrections and comments
- Erratum issuedCorrigendum.2018
Authors and funding
12 authors at 5 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Microvillus inclusion disease (MVID) is a rare but fatal autosomal recessive congenital diarrheal disorder caused by MYO5B mutations. In 2013, we launched an open-access registry for MVID patients and their MYO5B mutations (www.mvid-central.org). Since then, additional unique MYO5B mutations have been identified in MVID patients, but also in non-MVID patients. Animal models have been generated that formally prove the causality between MYO5B and MVID. Importantly, mutations in two other genes, STXBP2 and STX3, have since been associated with variants of MVID, shedding new light on the pathogenesis of this congenital diarrheal disorder. Here, we review these additional genes and their mutations. Furthermore, we discuss recent data from cell studies that indicate that the three genes are functionally linked and, therefore, may constitute a common disease mechanism that unifies a subset of phenotypically linked congenital diarrheal disorders. We present new data based on patient material to support this. To congregate existing and future information on MVID geno-/phenotypes, we have updated and expanded the MVID registry to include all currently known MVID-associated gene mutations, their demonstrated or predicted functional consequences, and associated clinical information.
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.