July 2023 in “Clinical, cosmetic and investigational dermatology” In this study, reflectance confocal microscopy was used to diagnose periorificial dermatitis, revealing specific skin changes such as hair follicle dilatation, increased vascular density, and inflammation, which help distinguish it from similar conditions.
1 citations
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September 2021 in “Frontiers in genetics” This case report identifies a previously undocumented nonsense mutation in DCAF17 in a Chinese patient with Woodhouse-Sakati syndrome, inherited from consanguineous parents.
June 2026 in “British Journal of Dermatology” In this real-world study, 27% of alopecia areata patients treated with ritlecitinib achieved a target SALT score, a result consistent with clinical trial findings, highlighting the value of patient-reported outcomes in understanding treatment impact beyond traditional measures.
15 citations
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May 2009 in “Chemical Physics Letters” This study demonstrated that a metric based on rotational echo intensity in 2H magic-angle spinning NMR can derive kinetic information for conformational exchange without complex modelling, achieving activation barriers consistent with prior findings.
January 2026 in “Clinical Chemistry and Laboratory Medicine (CCLM)” This study reported high analytical performance of an RMP for DHT quantification, with the ability to differentiate between 5α-DHT and 5β-DHT isomers, making it suitable for routine assay standardization and clinical sample evaluation.
October 2007 in “Journal of Korean Medicine Rehabilitation” This study found that individuals with androgenetic alopecia exhibited an imbalance in autonomic nervous system activity, characterized by increased sympathetic activity and decreased parasympathetic activity compared to controls.
1 citations
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February 2023 in “Tropical Journal of Pharmaceutical Research” This study found that polysulfonic acid mucopolysaccharide may reduce skin scarring in rats by influencing the TGF-β1/Smad signaling pathway.
September 2023 in “Journal of The American Academy of Dermatology” This review discusses the use of Raman spectroscopy to evaluate drug penetration in alopecia treatments and suggests it may be a promising tool for enhancing the effectiveness of laser-assisted drug delivery.
2 citations
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September 2024 in “Asian Journal of Andrology” In a retrospective cohort of patients with steroid 5 α-reductase 2 deficiency, this study identified seven novel genetic variants in the SRD5A2 gene, expanding the variant database and contributing to improved diagnostic and therapeutic approaches for the condition.
39 citations
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April 2018 in “Hormones” This review suggests that most mutations in the SRD5A2 gene show no clear genotype-phenotype correlation in 5-α-Reductase deficiency, although mutation location affects severity.
35 citations
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March 2013 in “American Journal of Medical Genetics Part B Neuropsychiatric Genetics” This study found that a genetic variation in SRD5A2 influences the severity of PTSD symptoms in a sex-specific manner among traumatized African-American males.
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.
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.
July 2023 in “Media Dermato Venereologica Indonesiana” This case study highlights that RDEB-mitis can be misdiagnosed in older adults, emphasizing the importance of accurate diagnosis as it does not require immunosuppressive treatment.
This study suggests that the ANE syndrome mutation in yeast Nop4, analogous to human RBM28, disrupts protein folding and protein-protein interactions, contributing to ribosomal dysfunction.
16 citations
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July 2021 in “American Journal of Medical Genetics Part A” This study identified novel LSS mutations implicated in hypotrichosis simplex with or without neurodevelopmental abnormalities, highlighting the need for careful evaluation of synonymous mutations' potential pathogenic effects.
79 citations
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June 1991 in “Journal of Medical Genetics” This article discusses the classification of mental retardation based on IQ ranges and provides no new experimental findings.
6 citations
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October 2001 in “British Journal of Ophthalmology” This article discusses the potential of intralesional cidofovir for treating SCC without systemic toxicity, noting that surgical excision remains the best treatment option; it reports no new clinical results.
September 2023 in “Journal of the American Academy of Dermatology”
3 citations
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December 2018 in “Meta Gene” This study applied a prediction model based on five SNPs to Russian males with male pattern hair loss, finding a significant association between the AR genomic region and high dihydrotestosterone levels in these patients.
April 2025 in “Experimental Eye Research” In this study, researchers characterized the retinal structure and function of the Oatrhg mouse model of gyrate atrophy, finding localized atrophy without significant retina-wide functional impact, suggesting the model may be useful for testing new treatments using multimodal retinal imaging.
16 citations
,
January 2010 in “American Journal of Neuroradiology” This case report describes a 3-year-old boy with trichothiodystrophy, highlighting specific MRI findings of diffuse dysmyelination and osteosclerosis that may be unique to the disorder.
1 citations
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May 2001 in “Proceedings of SPIE, the International Society for Optical Engineering/Proceedings of SPIE” This paper presents an RGB video microscopic system to monitor optical properties of hair shafts and follicles in vitro, but reports no new clinical results.
13 citations
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November 2017 in “Neurotoxicity research/Neurotoxicity resarch” This study found that sodium metabisulfite activates sodium channels and increases cellular excitability and excitotoxicity in both cardiomyocyte and neuron models, which exacerbates seizures and neuronal damage in rats.
February 2019 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that Prss53-mutated rabbits exhibited curved hair and skeletal dyskinesia, suggesting a link between Prss53 loss and these traits, potentially involving disrupted calcium metabolism.
13 citations
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July 2016 in “Indian Journal of Dermatology” This report describes two Saudi brothers with dermatopathia pigmentosa reticularis who exhibited normal hair shafts despite their condition.
December 2025 in “ILDS-DEV” March 2021 in “Medico-Legal Update” In this study, no significant change in androgen receptor gene expression was found in females with recurrent spontaneous abortion, but a mutant genotype may offer some protection against the condition.
5 citations
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November 2020 in “EBioMedicine” This study reports a novel diagnostic method for latent circadian rhythm sleep-wake disorder using circadian gene oscillations from hair follicle cells to improve sleep disorder differentiation and potential therapeutic intervention.
46 citations
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December 2018 in “Biomedical Optics Express” In this study, researchers observed that Raman spectroscopy effectively differentiates basal cell carcinoma from normal skin structures by analyzing biochemical markers, suggesting its potential as a surgical guidance tool for cancer margin resection during Mohs surgery.