17 citations
,
August 2012 in “Journal of Medical Genetics” This article reviews the genetic mutations associated with hypohidrotic ectodermal dysplasia and reports no new clinical results; the authors highlight the roles of EDA gene isoforms and related receptors.
234 citations
,
April 2000 in “Gene” This review discusses the expression patterns and biochemical roles of Msx and Dlx genes during development but does not present new research findings.
124 citations
,
September 1992 in “Endocrinology” This article discusses the structure of the human type II 5 alpha-reductase gene and reports no new experimental results.
April 2011 in “Cancer Research” In this study, ginsenoside 20(S)-protopanaxadiol-aglycone (PPD) was shown to downregulate androgen receptor expression and inhibit tumor growth in prostate cancer cells.
5 citations
,
July 1996 in “Journal of Cutaneous Medicine and Surgery” This study explains that while trichothiodystrophy and xeroderma pigmentosum share genetic defects, TTD patients primarily exhibit issues in transcription initiation, not the increased skin cancer risk seen in XP.
4 citations
,
January 2024 in “Allergy” This study indicates that individuals exposed to PPD mount varying immune responses, with either tolerance, subclinical inflammation, or allergy, suggesting no true non-responders to PPD.
4 citations
,
December 2022 in “Skin Research and Technology” This study found that a combination of dermatoscopy and reflectance confocal microscopy assists in accurately diagnosing pigmented prurigo, which is often misdiagnosed due to its varied clinical manifestations.
June 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study developed new immortalized keratinocyte cell lines lacking COL7A1 using CRISPR/Cas9 technology, providing a valuable model to explore the biology and treatment options for recessive dystrophic epidermolysis bullosa.
64 citations
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March 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” This study describes GPRC5D's unique expression pattern in tissues that produce hard keratin, with retinoic acid inducing its expression in hair bulb cells and affecting keratin gene regulation.
May 2005 in “Molecular Carcinogenesis” This study found that mrp/plf-mRNA expression in murine skin increases in response to different tumor promoters, suggesting its potential as a short-term biomarker for chemical carcinogenesis.
January 2012 in “Anales (Reial Acadèmia de Medicina de la Comunitat Valenciana)” This study found that SRD5A2 expression is absent in one third of benign adult prostates and is associated with hypermethylation, suggesting potential personalization of treatment for prostatic diseases based on methylation status.
12 citations
,
November 2012 in “BioMolecular Concepts” This review discusses the diverse roles of PPARβ/δ in skin health and disease, including its involvement in skin wound healing and inflammatory skin conditions, without presenting new experimental results.
12 citations
,
January 2000 in “Biochemical and Biophysical Research Communications” This study characterized the intron-exon organization of human keratin 15 and keratin 19 genes to aid future mutation detection analyses related to potential genetic disorders of keratinization.
2 citations
,
January 2014 in “Photochemical & photobiological sciences” This study suggests that the Grasp protein may play a role in regulating skin homeostasis following UVB exposure by influencing p53-mediated apoptotic responses in mice.
10 citations
,
September 1997 in “Molecular carcinogenesis” This study found that mirex and TPA promote papilloma formation in CD-1 mouse skin through distinct populations of mutant Ha-ras cells, resulting in additive tumor yields.
9 citations
,
October 2022 in “Nature Communications” In this study, researchers developed a new photoactivatable Cre recombinase mouse model, DiLiCre, which allows precise light-induced genetic modifications and cell tracing, demonstrating its effectiveness for advancing biological and biomedical research.
39 citations
,
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.
19 citations
,
May 2022 in “International journal of molecular sciences” This study suggests that PRX01, PRX44, and PRX73 regulate extensin-mediated cell wall properties during root hair cell growth, influencing growth patterns, peroxidase activity, and cell wall thickness.
81 citations
,
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.
75 citations
,
January 2004 in “Molecular and Cellular Biology” In this study, EDA-A2 transgenic mice exhibited multifocal myodegeneration dependent on XEDAR, suggesting a potential role for XEDAR in skeletal muscle homeostasis.
16 citations
,
May 2000 in “Endocrinology” This study identified a new gene, mrp4, in mice, which suggests it may have a unique role in the growth and development of hair follicles in the ears and tails.
12 citations
,
January 2013 in “Indian dermatology online journal” This case report details a 21-year-old woman with dermatopathia pigmentosa reticularis, presenting with generalized reticulate hyperpigmentation, diffuse noncicatricial alopecia, onychodystrophy, palmoplantar keratoderma, and poorly developed dermatoglyphics.
70 citations
,
December 2008 in “Cancer Research” This study found that activating CXCR2 on ras-transformed keratinocytes promotes migration and tumor development in a mouse skin model.
This study suggests that disruptions in the Ran system related to nuclear transport may be a key factor in the development of cellular issues in Hutchinson Gilford Progeria Syndrome.
12 citations
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June 2019 in “Psychoneuroendocrinology” This study found that in rodent models, the ability of D1 dopamine receptor activation to impair sensory gating is facilitated by 5α-reductase type 1, which produces allopregnanolone.
9 citations
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May 2014 in “BMC medical genetics” In this case report, the authors suggest that a novel enhancer element's translocation near the TRPS1 gene may contribute to the TRPS phenotype, expanding understanding of the syndrome's genetic basis.
November 2022 in “Journal of Investigative Dermatology” In this study, analysis of over 800 Iranian patients with epidermolysis bullosa identified 15 with pathogenic PLEC variants, highlighting a correlation between variant locations and phenotypic manifestations of plectinopathies.
This study found that RXR and RAR proteins were detectable in normal human skin, suggesting they may play a role in epidermal cell differentiation and hair and gland physiology.
July 2026 in “Current Issues in Molecular Biology” This study found that Plerixafor, a CXCR4 antagonist, promotes melanogenesis in melanocytes by increasing MITF and tyrosinase expression and enhancing melanocyte migration, and it effectively restores pigmentation in a mouse depigmentation model without toxicity, highlighting its potential for treating pigmentary disorders.
3 citations
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August 2021 in “Research Square (Research Square)” This study found that increased mRNA expression of the Ectodysplasin-A2-Receptor, observed across multiple species and tissues, may exacerbate inflammation during aging, suggesting potential benefits of blocking EDA2R/EDA-A2 signaling.