July 2024 in “Journal of Investigative Dermatology” This study found that systemic treatment with DS77754007, a KLK5 inhibitor, improved skin symptoms in a mouse model of Netherton Syndrome more effectively than certain antibody treatments, suggesting KLK5 inhibition as a promising therapeutic approach for this condition.
July 2024 in “Journal of Investigative Dermatology” In these two clinical trials, DS-2325a, a KLK5 inhibitor, was found to be generally safe and well tolerated in healthy volunteers, with mild and non-serious adverse events, suggesting its potential for further development as a treatment for Netherton Syndrome.
July 2025 in “Journal of Investigative Dermatology” TRIV-509 quickly improves skin barrier and cell health in atopic dermatitis.
21 citations
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July 2022 in “Orphanet journal of rare diseases” This review discusses recent advancements in therapies for ichthyosis, highlighting promising prospects in protein replacement and gene therapy, but it reports no new clinical results.
November 2019 in “Harper's Textbook of Pediatric Dermatology” This article reviews Netherton syndrome, focusing on its genetic basis, clinical presentation, and treatment options, and reports no clinical results; the authors mention potential benefits of targeted therapies and gene therapy.
87 citations
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January 2017 in “PLoS Genetics” This study found that simultaneously inhibiting both KLK5 and KLK7 proteases completely rescued skin barrier defects in a mouse model of Netherton syndrome, suggesting both should be therapeutic targets.
August 2019 in “Journal of The American Academy of Dermatology” This study found that bleach baths using 0.005% hypochlorite directly affected serine protease expression in skin cells and reduced skin pH in patients with atopic dermatitis, suggesting potential therapeutic benefits.
24 citations
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July 2014 in “Journal of Investigative Dermatology” This study reports that a widespread founder SERPINB7 mutation underlies Nagashima-type palmoplantar keratosis, which is a common form of palmoplantar keratosis in Asian populations.
11 citations
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August 2013 in “International Journal of Cosmetic Science” This study found that a combination of Trichogen and climbazole may inhibit protease activity and increase the force required to remove human hair, suggesting potential to reduce excessive hair shedding.
July 2024 in “Journal of Investigative Dermatology” ATR12-351 ointment safely delivers LEKTI protein to the skin, reducing enzyme activity in Netherton syndrome.
59 citations
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September 2021 in “Journal of Allergy and Clinical Immunology” This study found IL-17/IL-36 signaling to be predominant in both endotypes of Netherton syndrome, with distinct molecular profiles between NS-ILC and NS-SE lesions, offering potential therapeutic targets.
9 citations
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August 2024 in “International Journal of Molecular Sciences” This review explores epidermolysis bullosa simplex subtypes caused by mutations in KRT5 or KRT14 and summarizes gene expression patterns and molecular mechanisms, without presenting new experimental results.
1 citations
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February 2013 in “InTech eBooks” This article discusses research about Netherton syndrome, highlighting its contributions to understanding epidermal structure, immune responses, and processes like atopic dermatitis, but it reports no new clinical findings.
This study highlights that azelaic acid, initially recognized for skin hypopigmentation, shows potential in treating various skin conditions due to its complex mechanisms, even though these are not yet fully understood, indicating a need for further research.
August 2019 in “Journal of The American Academy of Dermatology” This study found that a bleach bath treatment with 0.005% HOCI reduced the expression of certain serine proteases in cultured keratinocytes and lowered skin pH in atopic dermatitis patients, potentially improving symptoms by modulating the NF-kB pathway.
5 citations
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November 2024 in “Journal of Clinical Immunology” This study reports that a 9-week-old infant with Netherton syndrome showed rapid and sustained symptom improvement, including skin microbiome normalization and developmental progress, after off-label dupilumab treatment, without adverse reactions.
This review discusses the cornification process of epidermal keratinocytes in forming the skin barrier and reports no new results; it emphasizes the importance for diagnosis and treatment of skin disorders.
November 2023 in “Global Medical Genetics” This case report describes a 1-month-old male infant with Netherton syndrome, characterized by severe hypernatremia, skin and scalp issues, highlighting the syndrome's complications, including growth retardation and infection risks in early life.
34 citations
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October 2024 in “Clinical Cosmetic and Investigational Dermatology” This review discusses azelaic acid's mechanisms and uses in dermatology, noting its effectiveness in treating conditions like rosacea, acne, and melasma, but reports no new clinical results.
12 citations
,
February 2025 in “Scientific Reports” This study found that extracellular vesicles derived from mesenchymal stem cells and umbilical cord blood plasma enhanced wound healing and reduced scar formation in mice, suggesting their potential as therapeutic agents for skin repair.
8 citations
,
February 2023 in “American Journal of Physiology-Cell Physiology” This review discusses the roles of adiponectin and bradykinin in skin homeostasis and pathologies, highlighting the need for further research into their therapeutic potential but reports no new clinical results.
87 citations
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March 2014 in “Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids” This paper discusses X-linked ichthyosis and its genetic causes, focusing on biochemical pathways and their role in epidermal differentiation and barrier function, but it presents no new clinical findings.
174 citations
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November 2016 in “Cell stem cell” This study found that squamous cell carcinomas from hair follicle stem cells are more prone to epithelial to mesenchymal transition and metastasis than those from interfollicular epidermis, due to distinct chromatin landscapes.
22 citations
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April 2020 in “Scientific reports” This study explored gene expression in Changthangi goats and found that higher expression of keratin-related genes and specific signaling pathways may play a role in the development of Pashmina fiber.
10 citations
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July 2015 in “Current opinion in pediatrics, with evaluated MEDLINE/Current opinion in pediatrics” This review discusses updates in the genetics and clinical understanding of congenital ichthyosis and highlights the addition of N-acetylcysteine and topical enzyme replacement to the treatment options, without providing new clinical results.
9 citations
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November 2018 in “Journal of cosmetic dermatology” This study reports that a plant extract from Orobanche rapum can stimulate skin rejuvenation and protect cutaneous microbiota, potentially creating healthier skin.
5 citations
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October 2014 in “Methods” This article describes how PESCADOR software assists in creating detailed biological pathway charts from PubMed abstracts, focusing on hair and breast development case studies without providing new clinical results.
3 citations
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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.
2 citations
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April 2010 in “The Open Dermatology Journal” This review discusses the development and role of corneodesmosin in skin and hair follicle integrity, highlighting findings from mouse models and its connection to genetic diseases, with no new experimental results included.
1 citations
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October 2024 in “Journal of Clinical Immunology” This study observed that adult Netherton syndrome patients showed a range of normal to diminished immune responses to polysaccharide, conjugate, and mRNA-based vaccines, with responses generally overlapping those of healthy controls, suggesting no consistent B- or T-cell immunodeficiency in this population.