ReviewHuman mutation2009
Update of cylindromatosis gene (CYLD) mutations in Brooke-Spiegler syndrome: novel insights into the role of deubiquitination in cell signaling.
Review in Human mutation, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers, 1 of them a synthesis that pooled it.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
45 citing papers in PubMed, 1 synthesis or guideline pooled it, 105 citations in OpenAlex.
- Pooled it
- Analysis of CYLD gene variants in 41 patients with multiple familial trichoepithelioma.Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG · 2026Article
- Aryl hydrocarbon receptor-dependent lipid droplet accumulation supports redox homeostasis in hypoxia-induced PCa cells.American journal of cancer research · 2026Article
- Article
- Brooke-Spiegler Syndrome With Simultaneous Occurrence of Cylindroma, Spiradenoma, and Trichoepithelioma: A Rare Case With Malignant Progression.Clinical case reports · 2025Article
- Primary disorders of polyubiquitination: Dual roles in autoinflammation and immunodeficiency.The Journal of experimental medicine · 2025Review
- Successful and Sustained Treatment of Cutaneous Tumoral Lesions in Brooke-Spiegler Syndrome (BSS) Using Ablative COClinical case reports · 2025Article
- A computational approach for structural and functional analyses of disease-associated mutations in the human CYLD gene.Genomics & informatics · 2024Article
- Brooke-Spiegler syndrome: radiotherapy as the last resort?Strahlentherapie und Onkologie : Organ der Deutschen Rontgengesellschaft ... [et al] · 2023Article
- CYLD in health and disease.Disease models & mechanisms · 2023Review
- CYLD stimulates macrophage phagocytosis of leukemic cells through STAT1 signalling in acute myeloid leukemia.PloS one · 2023Article
- Malignant eccrine spiradenocylindroma and parotid gland involvement in Brooke Spiegler syndrome.Dermatology reports · 2022Article
- Deubiquitinases in cell death and inflammation.The Biochemical journal · 2022Review
- Genetic Testing in CYLD Cutaneous Syndrome: An Update.The application of clinical genetics · 2021Review
- CYLD exaggerates pressure overload-induced cardiomyopathy via suppressing autolysosome efflux in cardiomyocytes.Journal of molecular and cellular cardiology · 2020Article
- CYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosis.Brain : a journal of neurology · 2020Article
- Tumour necrosis factor signalling in health and disease.F1000Research · 2019Review
- A case of multiple familial trichoepitheliomas responding to treatment with the Hedgehog signaling pathway inhibitor vismodegib.Virchows Archiv : an international journal of pathology · 2018Article
- Frequent and differential mutations of the CYLD gene in basal cell salivary neoplasms: linkage to tumor development and progression.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2018Article
- Targeting deubiquitinase USP28 for cancer therapy.Cell death & disease · 2018Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Germline mutations in the cylindromatosis (CYLD) gene have been described in families with cylindromas, trichoepitheliomas, and/or spiradenomas. Brooke-Spiegler syndrome (BSS) is the autosomal dominant predisposition to skin appendageal neoplasms including cylindromas, trichoepitheliomas, and/or spiradenomas. We review the clinical features, molecular genetics, and the animal models of BSS. To date, a total of 51 germline CYLD mutations have been reported, occurring in exons 9-20, in 73 families with diverse ethnic and racial backgrounds. Of 51 mutations, 86% are expected to lead to truncated proteins. The seven missense mutations reported to date occur only within the ubiquitin (Ub)-specific protease (USP) domain of the CYLD protein and most are associated exclusively with multiple familial trichoepithelioma (MFT). CYLD functions as a tumor suppressor gene. CYLD encodes a deubiquitinating (DUB) enzyme that negatively regulates the nuclear factor (NF)-kappaB and c-Jun N-terminal kinase (JNK) pathways. CYLD DUB activity is highly specific for lysine 63 (K63)-linked Ub chains but has been shown to act on K48-linked Ub chains as well. In 2008, the CYLD USP domain was crystallized, revealing that the truncated Fingers subdomain confers CYLD's unique specificity for K63-linked Ub chains. Recent work using animal models revealed new roles for CYLD in immunity, lipid metabolism, spermatogenesis, osteoclastogenesis, antimicrobial defense, and inflammation.
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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.