SynthesisDermatology (Basel, Switzerland)2021
γ-Secretase Genetics of Hidradenitis Suppurativa: A Systematic Literature Review.
Synthesis in Dermatology (Basel, Switzerland), 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 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
21 citing papers in PubMed, 37 citations in OpenAlex.
- The γ-secretase complex: from discovery to a therapeutic target.RSC chemical biology · 2026Review
- Distinct and shared effects of individual γ-secretase inhibitors on human keratinocytes.JID innovations : skin science from molecules to population health · 2026Article
- IgA autoantibodies promote inflammation, Th17 polarization and fibrotic responses in hidradenitis suppurativa.Nature communications · 2026Article
- The Genetics of Hidradenitis Suppurativa.Clinical, cosmetic and investigational dermatology · 2026Review
- Use of an Intramolecular Quenched Fluorescence (IQF) Cleavage Assay for Assessing Enzyme Kinetics of Gamma-Secretase in Human Skin Fibroblasts and Keratinocytes.Methods in molecular biology (Clifton, N.J.) · 2025Article
- Neutrophil extracellular traps activate Notch-γ-secretase signaling in hidradenitis suppurativa.The Journal of allergy and clinical immunology · 2025Article
- Expression of nicastrin, NICD1, and Hes1 in NCSTN knockout mice: implications for hidradenitis suppurativa, Alzheimer's, and liver cancer.European journal of medical research · 2024Article
- Article
- 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
- Evidence on Hidradenitis Suppurativa as an Autoinflammatory Skin Disease.Journal of clinical medicine · 2024Review
- Essentials of hidradenitis suppurativa: a comprehensive review of diagnostic and treatment perspectives.Annals of medicine and surgery (2012) · 2024Review
- Galli-Galli Disease: A Comprehensive Literature Review.Dermatopathology (Basel, Switzerland) · 2024Review
- Unlocking the Mechanisms of Hidradenitis Suppurativa: Inflammation and miRNA Insights.Clinical, cosmetic and investigational dermatology · 2024Review
- Axonal transport of late endosomes and amphisomes is selectively modulated by local CaScience advances · 2022Article
- New and Emerging Targeted Therapies for Hidradenitis Suppurativa.International journal of molecular sciences · 2022Review
- A Novel NCSTN Mutation in a Three-Generation Chinese Family with Hidradenitis Suppurative.Journal of healthcare engineering · 2022Article
- Clinical considerations in the management of hidradenitis suppurativa in women.International journal of women's dermatology · 2021Review
- Insights into the Pathogenesis of HS and Therapeutical Approaches.Biomedicines · 2021Review
- [Pathogenesis of hidradenitis suppurativa/acne inversa].Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete · 2021Review
- Limited Substrate Specificity of PS/γ-Secretase Is Supported by Novel Multiplexed FRET Analysis in Live Cells.Biosensors · 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
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAcne inversa/hidradenitis suppurativa (HS) is a chronic, recurrent inflammatory disease of the skin that can significantly affect patients' quality of life. The etiology and pathogenesis of HS are unclear and gene mutations might play a role. SUMMARY: The primary focus of the review is on aggregating the gene mutations reported, summarizing the structure of γ-secretase and analyzing and speculating about the mechanism and the underlying relations between gene mutation and functional changes of protein. The systematic literature review was done by searching the PubMed, Embase, and Web of Science databases. γ-Secretase is an intramembrane protease complex responsible for the intramembranous cleavage of more than 30 type-1 transmembrane proteins including amyloid precursor protein and Notch receptors. The protein complex consists of four hydrophobic proteins: presenilin, presenilin enhancer-2 (PSENEN), nicastrin, and anterior pharynx defective 1 (APH1). To date, 57 mutations of γ-secretase genes have been reported in 70 patients or families worldwide, including 39 in NCSTN, 14 in PSENEN, and 4 in PSEN1, of which 17 are frameshifts, 15 result in nonsense mutations, 13 in missense mutations, and 12 are splice site mutations. Given the structure of γ-secretase and analysis of related mutation loci of NCSTN, PSENEN, and PSEN1, mutations in γ-secretase genes could affect activation of presenilin, prevent substrate binding, and hinder intramembrane cleavage of select proteins.
Indexed as
Identifiers
What Socratic 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 Socratic graph.