SynthesisHuman molecular genetics2019
Analysis of hidradenitis suppurativa-linked mutations in four genes and the effects of PSEN1-P242LfsX11 on cytokine and chemokine expression in macrophages.
Synthesis in Human molecular genetics, 2019. 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.
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Who cites it
19 citing papers in PubMed, 36 citations in OpenAlex.
- Peripheral neuropathy as a presenting feature of familial early onset Alzheimer's disease: a rare clinical association.Acta neurologica Belgica · 2026Article
- Distinct and shared effects of individual γ-secretase inhibitors on human keratinocytes.JID innovations : skin science from molecules to population health · 2026Article
- Comprehensive Catalog of Variants Potentially Associated with Hidradenitis Suppurativa, Including Newly Identified Variants from a Cohort of 100 Patients.International journal of molecular sciences · 2024Article
- Causal role of myeloid cells in Parkinson's disease: Mendelian randomization study.Inflammation research : official journal of the European Histamine Research Society ... [et al.] · 2024Article
- Hidradenitis Suppurativa: An Interdisciplinary Problem in Dermatology, Gynecology, and Surgery-Pathogenesis, Comorbidities, and Current Treatments.Life (Basel, Switzerland) · 2023Review
- Presenilin-1 (PSEN1) Mutations: Clinical Phenotypes beyond Alzheimer's Disease.International journal of molecular sciences · 2023Review
- Hidradenitis Suppurativa Burdens on Mental Health: A Literature Review of Associated Psychiatric Disorders and Their Pathogenesis.Life (Basel, Switzerland) · 2023Review
- Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.International journal of molecular sciences · 2022Review
- Immunological and prognostic analysis of PSENEN in low-grade gliomas: An immune infiltration-related prognostic biomarker.Frontiers in molecular neuroscience · 2022Article
- Innate immunity and microbial dysbiosis in hidradenitis suppurativa - vicious cycle of chronic inflammation.Frontiers in immunology · 2022Review
- Hidradenitis suppurativa; classification, remedies, etiology, and comorbidities; a narrative review.Journal of family medicine and primary care · 2021Review
- Insights from γ-Secretase: Functional Genetics of Hidradenitis Suppurativa.The Journal of investigative dermatology · 2021Review
- Impact of 970 nm photobiomodulation therapy on wound healing in cellular models of hidradenitis suppurativa.Lasers in medical science · 2021Article
- Botulinum toxin type A for the management of hidradenitis suppurativa.American journal of translational research · 2021Review
- The Relationship Between Alzheimer's Disease and Skin Diseases: A Review.Clinical, cosmetic and investigational dermatology · 2021Review
- Other Types of Glycosylation.Advances in experimental medicine and biology · 2021Article
- A novel nicastrin mutation in a three-generation Dutch family with hidradenitis suppurativa: a search for functional significance.Journal of the European Academy of Dermatology and Venereology : JEADV · 2020Article
- Hidradenitis Suppurativa: Current Understanding of Pathogenic Mechanisms and Suggestion for Treatment Algorithm.Frontiers in medicine · 2020Review
- Hidradenitis Suppurativa as a Potential Subtype of Autoinflammatory Keratinization Disease.Frontiers in immunology · 2020Review
Corrections and comments
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Authors and funding
4 authors at 3 institutions in 1 country.
Funding
Abstract
Hidradenitis suppurativa (HS), or acne inversa, is a chronic inflammatory skin disorder characterized clinically with acne-like lesions in apocrine gland-bearing skin, follicular occlusion and recurrent inflammation. Thirty-four unique mutations in patients with HS have been found in three genes encoding the γ-secretase complex: nicastrin (NCSTN), presenilin 1 (PSEN1), presenilin enhancer 2 (PSENEN) and in POGLUT1, an endoplasmic reticulum O-glucosyltransferase involved in Notch signaling. We have carried out a system review and have performed a functional analysis of the 34 unique reported HS-linked mutations in NCSTN, PSEN1, PSENEN and POGLUT1. We have also examined the effects of the HS-linked PSEN1-P242LfsX11 mutation on cytokine and chemokine expression in macrophages. Mutations in NCSTN are predicted to cause loss of function, to result in loss of transmembrane (TM) domain, to affect NCSTN substrate recruitment sites, to cause loss or creation of new ligand binging sites and to alter post-translational modifications and disulfide bonds. PSEN1-P242LfsX11 occurs at the opposite side of TM5 from Alzheimer's disease-linked PSEN1 mutations. All of the PSENEN mutations occur on TM regions that are predicted to disrupt membrane function. POGLUT1 mutations lead to an early termination of protein synthesis and are predicted to affect ligand binding function. In addition, PSEN1-P242LfsX11 mediates cytokine and chemokine expression and prolongs tumor necrosis factor α production on the inflammatory processes in THP-1 cells and phorbol-12-myristate-13-acetate-differentiated macrophages in response to lipopolysaccharide stimulation. These in silico analyses are instructive for functional studies of the HS-linked mutations. The PSEN1-P242LfsX11 mutation mediates cytokine and chemokine expression in macrophages.
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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.