January 2002 in “映像情報メディア学会技術報告” This study found that 60% of examined prostate tumors had new somatic substitutions in the SRD5A2 gene, affecting enzyme activity and potentially influencing prostate cancer progression.
5 citations
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February 2022 in “Molecular genetics & genomic medicine” This study identified genetic variants in the DSG4 gene associated with the autosomal recessive form of monilethrix in Chinese patients, expanding the understanding of its phenotypic spectrum and clinical features.
September 2023 in “Journal of the American Academy of Dermatology” Dermatologists should consider alpha-gal syndrome in patients with unexplained chronic skin issues.
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.
2 citations
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December 2013 in “Veterinary dermatology” This study describes three adult dogs with sebaceous gland dysplasia, reporting that two showed moderate to marked improvement in symptoms with treatment, though ongoing management is required as the condition cannot be cured.
November 2022 in “Journal of the Endocrine Society” This case report highlights a novel NR5A1 gene variant associated with a severe 46,XY disorder of sex development, stressing the importance of genetic screening in similar cases.
22 citations
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January 2008 in “Physiological Research” This review discusses the role of steroid sulfatase in steroid hormone metabolism and highlights the need for more research on its expression and regulation, especially regarding hormone-dependent tumors.
9 citations
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September 2017 in “Journal of Investigative Dermatology Symposium Proceedings” In this study, PGD2 was shown to increase testosterone production in human keratinocytes through reactive oxygen species, suggesting potential benefits of antioxidants like N-acetyl-cysteine for AGA patients.
January 2025 in “Frontiers in Immunology” This case report details a rare instance of a young male with coexisting autoimmune polyendocrine syndrome type 2 and anti-GAD65 antibody-associated stiff person syndrome, where symptoms improved by adding intravenous immunoglobulin therapy, emphasizing the importance of awareness for early diagnosis and treatment.
5 citations
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October 2015 in “The American journal of pathology” This study found that a spontaneous deletion in the Dsg3 gene of mice leads to hypomorphic desmoglein 3 expression, resulting in severe immunodeficiency, cyclic hair loss, and wasting disease, without causing the blistering typical of pemphigus vulgaris.
January 2009 in “Journal of Jilin Medical College” This study found that SDG did not significantly affect prostate weight in rats with BPH, but it may reduce serum PAP activity and alter prostate tissue changes induced by Testosterone Propionate.
35 citations
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August 2009 in “Differentiation” This study found that transcription factors HOXC13, LEF1, and FOXN1 repress DSG4 transcription, with the Notch pathway possibly involved in maintaining DSG4 expression in hair follicles.
2 citations
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April 2012 in “Science-business Exchange” Blocking a protein called prostaglandin D2 might help treat hair loss.
46 citations
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August 2006 in “PubMed” In this study, researchers identified and examined males with 17 beta-HSD3 deficiency in a highly inbred Arab population, noting genetic findings and the progression of male characteristics despite being raised as females initially.
21 citations
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December 2015 in “Development Growth & Differentiation” This study introduces genital sex differentiation parameters (GSDP) to analyze sexual differences in external genitalia and perineum development in mice, revealing varied sensitivity to androgen inhibition in genital structures.
April 2024 in “African Journal of Biological Sciences” In this case report, a 38-year-old woman with Degos disease and non-scarring alopecia experienced significant hair regrowth with the current treatment protocol, highlighting its potential effectiveness in such complex conditions.
4 citations
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December 2021 in “Journal of clinical laboratory analysis” This study identified a splicing-site deletion in the DCAF17 gene associated with Woodhouse-Sakati syndrome in a large consanguineous pedigree, leading to typical phenotypic features.
2 citations
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September 1971 in “Metabolism, clinical and experimental” In this study, patients with testicular feminization syndrome showed limited anabolic responsiveness to dihydrotestosterone, potentially due to reduced affinity of nuclear receptor sites for androgenic steroids rather than defective testosterone conversion.
4 citations
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January 2017 in “Acta dermato-venereologica” A new EDA gene mutation was found in a Chinese family with a specific skin disorder.
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.
9 citations
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February 2012 in “Clinical Neurology and Neurosurgery” In this paper, three APS patients were followed over time, showing that the diagnosis and course of autoimmune polyglandular syndrome can evolve, highlighting the need for careful monitoring and potential re-evaluation.
This review found an increased prevalence of common skin disorders, such as infectious and inflammatory conditions, in patients with Down syndrome and highlighted the need for improved screening and management guidelines.
97 citations
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March 2006 in “Journal of Investigative Dermatology” This study identified four novel DSG4 mutations associated with monilethrix in 12 Jewish families, suggesting a recessive inheritance pattern and broader prevalence of DSG4-related hair disorders than previously recognized.
January 2007 in “Edward Elgar eBooks” In this study, overexpressing TSPO in the mouse hippocampal dentate gyrus led to significant anxiolytic and antidepressant-like effects, partly through increased allopregnanolone biosynthesis.
January 2025 in “JCEM Case Reports” This report describes two cases of glucocorticoid resistance syndrome highlighting genetic diversity; one patient improved with low-dose dexamethasone despite negative genetic testing, while the other is monitored with a novel NR3C1 variant.
14 citations
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March 2018 in “The American journal of case reports” This study highlights the phenotypic variability in 5 patients with Woodhouse-Sakati syndrome carrying the c.436delC mutation, suggesting a broader range of clinical presentations than previously recognized.
This study discovered that in *Drosophila*, knockdown of specific storage proteins in adipocytes decreased germline stem cell maintenance, implicating a role for these proteins in adult tissue regulation.
8 citations
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November 2009 in “The Neurologist/The neurologist” This case report highlights a 21-year-old woman with seizures, mental retardation, spastic diplegia, and ichthyosis consistent with Sjogren-Larsson syndrome, and emphasizes the importance of differential diagnosis when additional symptoms are present.
5 citations
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November 2021 in “Saudi medical journal” This report describes three Saudi sisters with Woodhouse-Sakati syndrome, who exhibited typical features of the condition along with unusual gynecological anomalies.
September 2024 in “Journal of the American Academy of Dermatology” This introduction highlights that a common challenge with managing dandruff, a mild form of seborrheic dermatitis, is compliance with treatment, and notes that selenium disulfide shampoo is beneficial for this condition.