81 citations
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July 2008 in “The Journal of Clinical Endocrinology and Metabolism” This study found that cortisone reductase deficiency is caused by inactivating mutations in the H6PD gene, affecting cortisol metabolism by preventing 11β-HSD1 enzyme function.
January 2026 in “Biomaterials” 2 citations
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January 2009 in “Human cell culture”
In preclinical studies, topical CUR61414 reduced Hh signaling and shrank BCCs in mice, but this study found no clinical efficacy in human superficial or nodular BCCs.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This study observed that mice lacking epidermal HSD11b1 had increased non-histaminergic itch and changes in skin nerve fibers, potentially linked to higher TSLP expression.
1 citations
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November 2023 in “Journal of Investigative Dermatology” Farudodstat may effectively treat alopecia areata without harming hair follicles.
September 2023 in “Zenodo (CERN European Organization for Nuclear Research)” August 2024 in “American Journal of Medical Genetics Part A” In this case study, researchers detailed two Saudi cases of the ultra-rare Trichohepatoneurodevelopmental syndrome, identifying pathogenic variants in the CCDC47 gene and reinforcing a strong gene-disease association, which helps clarify the disorder's clinical features and genetic mutations.
September 2019 in “Journal of Investigative Dermatology” This study introduced a reproducible human model using 3D-SeboSkin technology to study hidradenitis suppurativa, allowing better maintenance of skin integrity and replication of biomarker expression patterns compared to traditional skin cultures, suggesting its value for further research.
26 citations
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August 2009 in “Journal of Pediatric Gastroenterology and Nutrition” This study reports that gastrointestinal problems, such as intractable diarrhea and enterocolitis, can dominate the clinical course of patients with Hoyeraal-Hreidarsson syndrome and may occur before hematological and immunological symptoms.
132 citations
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August 2008 in “Development” This research found that Dlx3 plays a central role in hair formation and regeneration, with its absence leading to alopecia through disrupted differentiation and signaling pathways.
27 citations
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July 1997 in “PubMed” This study suggests that the harlequin ichthyosis mouse model closely resembles human type 2 harlequin ichthyosis, indicating its potential as a useful model for studying the human condition.
10 citations
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September 2021 in “American Journal of Medical Genetics Part A” This study on Qatari patients with Woodhouse-Sakati syndrome highlights the high incidence and diverse clinical presentation due to a specific genetic variant, emphasizing early diagnosis for effective management.
2 citations
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December 2013 in “Journal of dermatology” This letter reports a homozygous missense mutation in the LIPH gene causing autosomal recessive hypotrichosis simplex in a Chinese patient.
18 citations
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November 2005 in “Archives of Dermatological Research”
January 2022 in “Food Science and Technology” This study suggests that a mixture of Chrysanthemum zawadskii, peppermint, and Glycyrrhiza glabra promotes hair growth and reduces hair loss markers in testosterone-treated cells and mice.
December 2024 in “Journal of Health and Beauty” In laboratory conditions, this study found that the Dongeui Hot Spring Water Complex, containing sea slug extract, demonstrated enhanced antioxidant activity and promoted hair papilla cell proliferation compared to a control, suggesting potential benefits for scalp health and hair loss prevention.
3 citations
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May 2015 in “Journal of The American Academy of Dermatology” Adalimumab significantly improves quality of life for patients with moderate to severe hidradenitis suppurativa.
January 2024 in “Wiadomości Lekarskie” This pilot clinical study introduces DEC cells as a novel therapy for Duchenne muscular dystrophy, confirming safety and efficacy in seven patients up to 24 months post-treatment.
This study found that the transcription factor Lhx2 regulates Sonic Hedgehog signaling in mouse retinal progenitor cells, mainly by controlling the expression of co-receptors essential for effective pathway activation during early retinal neurogenesis.
8 citations
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July 2015 in “International Journal of Dermatology” This study reports that a homozygous A1103G mutation in DSG 4 is responsible for localized autosomal recessive hypotrichosis in a 2-year-old Chinese girl, resulting in reduced DSG 4 expression and hair defects.
September 1978 in “Journal of steroid biochemistry/Journal of Steroid Biochemistry” This review discusses the antimicrobial and protective effects of hesperidin and hesperetin against various toxicities, with potential mechanisms explored, but it reports no new research findings.
10 citations
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January 2003 in “Dermatology” This study describes a Japanese family with monilethrix and found no clear genotype/phenotype correlation in cases with the E413K mutation in hHb6.
This study found that activating Hedgehog signaling in both epithelial and stromal cells can induce new hair follicles in adult mice, but this also leads to tumor formation.
4 citations
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June 2023 in “Pharmaceutical Biology” This study found that the Qing Cuo Formula significantly reduced serum androgen and inflammatory cytokine levels in hamsters with damp-heat acne and identified potential molecular mechanisms and active compounds involved.
20 citations
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June 2007 in “Recent Patents on Endocrine, Metabolic & Immune Drug Discovery” This review summarizes recent research and patents on 17β-HSD3, 17β-HSD5, and 3α-HSD3 inhibitors, suggesting their potential in treating androgen-dependent diseases, but reports no new clinical results.
March 2023 in “Asian Journal of Beauty and Cosmetology” This study found that the herbal extract HX109 promoted hair growth in mice by increasing cell viability and enhancing hair regrowth, with the effects increasing as doses rose.
July 2025 in “Journal of Investigative Dermatology” Hhip-Cre effectively targets dermal papilla cells for gene manipulation in hair biology.
December 2024 in “Journal of Health and Beauty” This study found that the Dongeui Hot Spring Water complex (Dongui Hot Spring Water CPX), containing sea slug extract and panthenol, demonstrated higher antioxidant activity and cell proliferation, suggesting potential benefits for preventing hair loss and improving scalp health.
17 citations
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June 2011 in “The journal of investigative dermatology/Journal of investigative dermatology” This study observed that mice with a Cx43 mutation exhibited slower and asynchronous hair regrowth with severe cuticle weathering, mimicking aspects of hair phenotype in some ODDD patients.