23 citations
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June 2010 in “Journal of Investigative Dermatology” This study found that the hair interior defect in AKR/J mice is linked to a mutation in the Soat1 gene, which disrupts SOAT1 protein expression and affects lipid metabolism critical for normal hair formation.
30 citations
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July 2019 in “Endocrinology” This review discusses how the HSD3B1(1245C) genotype may impact androgen physiology and the progression of castration-resistant prostate cancer, and does not report new experimental results.
2 citations
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September 2017 in “Journal of Investigative Dermatology” This study found that notch1 signaling is severely impaired in hidradenitis suppurativa patients with or without NCSTN or other gamma-secretase gene mutations, highlighting a canonical defect at the lesional tissue level.
October 2017 in “Indian heart journal” Higher levels of small, dense LDL cholesterol are linked to a greater risk of heart attack in young adults.
December 2022 in “American journal of medical genetics. Part A” This case report describes an instance of autosomal recessive uncombable hair syndrome caused by maternal uniparental disomy of chromosome 1.
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that the mutant hairless rhino bald protein in mice interacts with the vitamin D receptor but cannot repress its transactivation and shows abnormal cellular localization.
26 citations
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March 2006 in “Endocrine, metabolic & immune disorders. Drug targets” This article discusses the functions of the enzyme 17beta-HSD10, including its role in steroid metabolism and potential links to Alzheimer's disease, but reports no new experimental findings.
2 citations
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December 2022 in “The Journal of Dermatology” This study found that patients with hidradenitis suppurativa had significantly higher levels of cell-free DNA in their serum compared to healthy controls, suggesting its potential as a biomarker for the disease.
This article reviews approved treatments for androgenetic alopecia and reports no new research findings, highlighting the need for further studies.
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.
2 citations
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January 2020 in “Evidence-based Complementary and Alternative Medicine” This study found that Hataedock may alleviate atopic dermatitis symptoms in mice by maintaining skin homeostasis and improving skin barrier formation through the endocannabinoid system.
1 citations
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July 2021 in “Acta dermatovenerologica Croatica” This case report describes regression of hidradenitis suppurativa lesions in two patients after 16 weeks of adalimumab treatment.
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.
48 citations
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June 2014 in “Neurobiology of Disease” This study found that stem cells derived from spinal and bulbar muscular atrophy patients exhibited reduced androgen receptor levels and HDAC6, providing potential insights into the disease mechanism for future therapies.
April 2023 in “Journal of Investigative Dermatology” This study found that human TMEM2 does not function as a hyaluronidase but is involved in regulating hyaluronan metabolism.
March 2025 in “European Journal of Medical Genetics” This case report suggests that tofacitinib may effectively manage symptoms of AGS7 in a patient with an IFIH1 mutation, though further studies are needed to confirm its long-term safety and efficacy.
3 citations
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December 2020 in “Skin Appendage Disorders” This case report highlights a family member with a confirmed diagnosis of hypotrichosis with juvenile macular dystrophy due to a CDH3 gene mutation, emphasizing the importance of genetic testing for accurate counseling.
April 2023 in “Journal of Investigative Dermatology” This study demonstrates that human epidermal stem cells can adapt to environmental temperature changes through mTOR signaling, and prolonged inhibition of mTORC1 supports stem cell maintenance, which may be vital for regenerative medicine.
November 2022 in “Journal of Investigative Dermatology” This study reported that an HS-associated NCSTN mutation in iPSC-derived skin organoids led to altered hair follicle stem cell differentiation and increased expression of proteins linked to HS inflammation.
1 citations
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March 2023 in “Aggregate” In this study, a hydrogel derived from Andrias davidianus secretion, combined with micronized amnion, promoted skin regeneration and achieved scarless healing in rats, suggesting potential for clinical use.
August 2025 in “American Journal of Case Reports” In this case report, researchers describe a 13-year-old phenotypic female with 46,XY karyotype, previously misdiagnosed with androgen insensitivity syndrome, who was later identified to have 17-beta-hydroxysteroid dehydrogenase type 3 deficiency, underscoring the importance of genetic and hormonal tests for accurate diagnosis of sex development disorders.
4 citations
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December 2022 in “Advanced science” This study found that fatty acid desaturation regulated by SCD1 is crucial for hair growth by maintaining hair follicle stem cell niches, with its absence causing abnormal hair growth in mice.
1 citations
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January 2023 in “In vivo/In Vivo” This study suggests that the activation of box A in mesenchymal cell models may enhance stem cell properties, increasing the expression of stemness markers like OCT4, NANOG, and SOX2.
69 citations
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December 2005 in “Nature Clinical Practice Endocrinology & Metabolism” Blocking the enzyme 11β-HSD1 might help treat obesity and metabolic issues.
32 citations
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June 2013 in “Journal of Investigative Dermatology” This study found that reducing HDAC1 activity in the skin of mice led to defects in hair follicle structure and pigmentation, highlighting HDAC's role in skin and hair maintenance.
1 citations
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June 2022 in “Chinese medical journal/Chinese Medical Journal” This study identified two novel mutations in the CDH3 gene causing HJMD in a Chinese patient, expanding the genetic and phenotypic understanding of the disorder.
25 citations
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December 2018 in “Human Molecular Genetics” This study found that the PSEN1-P242LfsX11 mutation in hidradenitis suppurativa influences cytokine and chemokine expression in macrophages, potentially affecting inflammatory responses.
3 citations
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December 2021 in “Frontiers in endocrinology” In this study, a novel DCAF17 gene mutation was identified in a Chinese family, suggesting a potential role in pancreatic β cell dysfunction and diabetes development in Woodhouse-Sakati syndrome.
This study found that adalimumab treatment led to regression of lesions in two patients with hidradenitis suppurativa after 16 weeks of therapy.
April 2018 in “Journal of Investigative Dermatology” This study found that the absence of Hes1 in hair follicles delays secondary hair germ activation and shortens the anagen phase, impacting HFSC self-renewal and long-term hair regeneration.