ReviewJournal of translational medicine2021
MBTPS2, a membrane bound protease, underlying several distinct skin and bone disorders.
Review in Journal of translational medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 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.
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Who cites it
19 citing papers in PubMed, 24 citations in OpenAlex.
- Beyond the diagnosis: UnravelingThe Japanese dental science review · 2026Review
- Craniofacial Morphology and Dental Age Assessment in Pediatric Craniosynostosis: A Comparative Cross-Sectional Study.Clinical and experimental dental research · 2026Article
- Metagenome and Metabolic Pathways in Plaque Biofilms of Thai ELANE-Associated Neutropenic Patients: An Original Study and Scoping Review.European journal of dentistry · 2026Article
- Long-read RNA sequencing reveals extensive transcript isoform changes in a patient with IFAP syndrome with a recurrent intronic MBTPS2 variant.Human genome variation · 2026Article
- Microbial signatures of dental caries in the incarcerated elderly: a salivary microbiota study in a restricted environment.Journal of oral microbiology · 2026Article
- Diverging pathomechanisms underlying collagen I-related and MBTPS2-related osteogenesis imperfecta: insights from patient-derived fibroblasts and iPSC-based modelling of bone.Frontiers in endocrinology · 2026Article
- Successful treatment of anJAAD case reports · 2026Article
- Comparative Transcriptomic Analyses Reveal Potential Stp1 Regulatory Roles Independent of Sre1 inInternational journal of molecular sciences · 2025Article
- MBTPS1: a membrane-bound transcription factor protease implicated in the pathogenesis of several skin and skeletal disorders.Functional & integrative genomics · 2025Review
- Cryo-EM structure of the bacterial intramembrane metalloprotease RseP in the substrate-bound state.Science advances · 2025Article
- Exome Sequencing for the Diagnostics of Osteogenesis Imperfecta in Six Russian Patients.Current issues in molecular biology · 2024Article
- Pathogenesis and management ofFrontiers in genetics · 2024Review
- TRPV3 Ion Channel: From Gene to Pharmacology.International journal of molecular sciences · 2023Review
- Classification of osteogenesis imperfecta: Importance for prophylaxis and genetic counseling.World journal of clinical cases · 2023Review
- Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novelFrontiers in endocrinology · 2023Article
- Ocular findings and genomics of X-linked recessive disorders: A review.Indian journal of ophthalmology · 2022Review
- Reduced serum high-density lipoprotein cholesterol levels and aberrantly expressed cholesterol metabolism genes in colorectal cancer.World journal of clinical cases · 2022Article
- A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol-regulated transcription and the endoplasmic reticulum stress response.American journal of medical genetics. Part A · 2022Article
- Supply chain logistics - the role of the Golgi complex in extracellular matrix production and maintenance.Journal of cell science · 2022Review
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The MBTPS2 gene on the X-chromosome encodes the membrane-bound transcription factor protease, site-2 (MBTPS2) or site-2 protease (S2P) which cleaves and activates several signaling and regulatory proteins from the membrane. The MBTPS2 is critical for a myriad of cellular processes, ranging from the regulation of cholesterol homeostasis to unfolded protein responses. While its functional role has become much clearer in the recent years, how mutations in the MBTPS2 gene lead to several human disorders with different phenotypes including Ichthyosis Follicularis, Atrichia and Photophobia syndrome (IFAP) with or without BRESHECK syndrome, Keratosis Follicularis Spinulosa Decalvans (KFSD), Olmsted syndrome, and Osteogenesis Imperfecta type XIX remains obscure. This review presents the biological role of MBTPS2 in development, summarizes its mutations and implicated disorders, and discusses outstanding unanswered questions.
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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.