46 citations
,
March 2005 in “Endocrinology” In this study, ectoderm-targeted transgenic mice with glucocorticoid receptor overexpression exhibited multiple epithelial defects, suggesting the role of NF-kappaB and p63 dysfunction in ectodermal dysplasia syndromes.
18 citations
,
August 2015 in “Biochemical and Biophysical Research Communications” This study found that the XEDAR receptor can activate the non-canonical NF-kB pathway involving p100 processing, which is regulated by interactions with TRAF proteins and specific kinases.
1 citations
,
March 2024 in “Signal transduction and targeted therapy” In this review, researchers explored the multifaceted role of NF-κB signaling in various biological processes and diseases, including its interactions with other pathways, and discussed possible therapeutic approaches targeting this pathway for treating conditions like cancer, autoimmune disorders, and COVID-19.
4 citations
,
September 2024 in “Jurnal Pengolahan Hasil Perikanan Indonesia” In this study, researchers reported that compounds from Bruguiera gymnorhiza leaves showed anti-inflammatory potential in in silico analyses, with favorable drug properties and specific binding to the IKKβ receptor, suggesting possible development into anti-inflammatory drugs.
30 citations
,
June 2016 in “Journal of Human Genetics” This study found pathogenic mutations in genes EDA, EDA1R, and EDARADD in 101 out of 124 hypohidrotic ectodermal dysplasia patients, revealing 23 novel mutations and indicating genetic variability.
4 citations
,
October 2021 in “Scientific Reports” This study found that NKIRAS2 expression affects skin tumor suppression and HRAS-driven transformation in mice, indicating its role in carcinogenesis depends on expression level and cellular context.
38 citations
,
January 2016 in “Cell Death and Disease” This review discusses the role of the TCL1 transgenic mouse model in understanding chronic lymphocytic leukemia biology and highlights the importance of exploring new pathogenetic and therapeutic targets.
3 citations
,
September 2005 in “Experimental dermatology” This review discusses the formation and structure of the cornified cell envelope in the epidermis, highlighting biochemical pathways and genetic factors, but presents no new experimental results.
This genetic study identified a potential interval for the Marie Unna hypotrichosis gene but found no mutations in the nearby hr gene, suggesting its involvement remains unconfirmed.
610 citations
,
April 2014 in “Nature Reviews Immunology” This review discusses the complex mechanisms regulating skin immunity to balance host defense with inflammation, but reports no new findings.
245 citations
,
January 2018 in “Bone Research” This review discusses the role of TGF-β signaling in stem cell recruitment and tissue regeneration, indicating that abnormalities in TGF-β activation contribute to various major diseases and suggesting avenues for therapeutic intervention.
141 citations
,
August 2018 in “Nature Reviews Microbiology” This review discusses the molecular mechanisms by which oncogenic viruses contribute to cancer development through manipulation of host cellular functions and highlights the need for further research into virus-associated cancers, reporting no new results.
120 citations
,
February 2009 in “Apoptosis” This review examines apoptotic and anti-apoptotic mechanisms in skin homeostasis and related diseases but presents no new research findings.
86 citations
,
May 2008 in “Cytokine & growth factor reviews” This review discusses recent discoveries about the role of Eda and other TNF-related cytokines in skin appendage development and reports no new experimental results, highlighting developments since the last comprehensive summary in 2003.
85 citations
,
August 2015 in “Journal of Applied Genetics” This review discusses recent insights into the molecular mechanisms of hypohidrotic ectodermal dysplasia linked to TNFα-related signaling pathway mutations but reports no new experimental results.
54 citations
,
October 2023 in “Oncogene” In this review, the researchers detailed how the p63 transcription factor influences epithelial stem cell activities such as self-renewal, differentiation, and proliferation, highlighting the role of TAp63 and ΔNp63 isoforms in both normal tissue development and cancer pathogenesis.
43 citations
,
December 2013 in “Seminars in Cell & Developmental Biology” This mini-review discusses human hair follicle development and summarizes genetic disorders linked to abnormalities in hair follicle morphogenesis, structure, or regeneration, but reports no new experimental results.
26 citations
,
December 2020 in “Nature metabolism” Martin-Perez et al. show that rapamycin's beneficial effects in a mouse model of Leigh syndrome are linked to the downregulation of protein kinase C.
23 citations
,
February 2015 in “International Journal of Molecular Sciences” This study found that colchicine treatment significantly reduced hair fiber elongation in cultured hair follicles and altered protein expression and activity in dermal papilla cells, suggesting a role for the ubiquitin-proteasome system in its effects.
22 citations
,
June 2013 in “International journal of molecular sciences” This review discusses the mechanisms governing epidermal stem and progenitor cell differentiation, emphasizing the balance necessary for maintaining skin barrier function, and reports no new experimental findings.
13 citations
,
September 2024 in “Frontiers in Pharmacology” This review highlighted the pharmacological potential of Mor, noting its protective effects on the kidneys, liver, bones, nervous system, heart, digestive system, skin, and lungs, as well as its anti-obesity and anti-inflammatory properties, revealing areas for future research.
11 citations
,
June 2016 in “npj Regenerative Medicine” This symposium discussed why regenerative capacity varies among species and diminishes with age, exploring how these insights could inform regenerative medicine approaches, without presenting new experimental results.
10 citations
,
January 2012 in “Lupus” This case report is the first to associate NEMO syndrome with systemic lupus erythematosus, suggesting a potential role for NF-kB essential modulator in the pathogenesis of SLE.
9 citations
,
March 2015 in “International reviews of immunology” This review discusses the relationship between ectodermal alterations and immunodeficiencies, particularly the roles of hyper-IgE syndrome, ectodermal dysplasia, and FOXN1 gene mutations, but it presents no new research findings.
5 citations
,
February 2019 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that in a mouse model of Leigh syndrome, rapamycin alters brain proteome and may extend survival by targeting protein kinase C.
3 citations
,
January 2024 in “Signal transduction and targeted therapy” This study presents a detailed overview of lymphatic vessel development and highlights the role of abnormal lymphangiogenesis in various diseases, suggesting that targeting lymphangiogenic factors may improve treatment strategies.
December 2025 in “Italian Journal of Anatomy and Embryology” This narrative literature review examined how linking embryonic development with non-genetic skin anomalies can improve diagnostic accuracy, guide prenatal counseling, and enrich dermatology education by revealing specific vulnerabilities in skin morphogenesis and supporting advances in regenerative medicine.
January 2025 in “Scripta Medica” This review suggests that natural compounds, particularly hydrolates, may improve burn wound healing and counter antibiotic resistance through their anti-inflammatory, antioxidant, and antimicrobial properties, offering promising complementary interventions.
October 2023 in “Frontiers in endocrinology” This review investigates molecular mechanisms behind PCOS pathogenesis and discusses potential therapies, but reports no new clinical results.
January 2018 in “Stem cell biology and regenerative medicine” This review discusses the interplay between signaling/transcription factor-mediated and epigenetic mechanisms in skin development and regeneration, highlighting the need for further exploration of epigenome reorganization in these processes.