21 citations
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October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified specific germline and somatic mutations in the Phospholipase C Delta 1 gene as high-risk factors for developing hereditary trichilemmal cysts, involving a monoallelic two-hit mechanism.
5 citations
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October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a high-risk allele in the PLCD1 gene associated with hereditary trichilemmal cyst formation, proposing a monoallelic two-hit mechanism as the underlying genetic pathogenesis.
8 citations
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June 2012 in “PloS one” This study found that the Plcd3(mNab) mutation in mice worsens the alopecia caused by Plcd1 loss, suggesting synergistic effects between Plcd1 and Plcd3 on hair follicle health.
2 citations
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October 2018 in “Skin appendage disorders” This case report describes a 2-year-old boy with uncombable hair syndrome-like hair changes that resolved spontaneously after 9 months, with genetic analysis revealing a PLCD1 gene variant.
March 2025 in “American Journal of Medical Genetics Part A” In this study, researchers found that mosaic PLCD1 hotspot variants, even without the recognized germline "risk allele," may be a rare but significant genetic cause of nevus trichilemmocysticus, warranting DNA testing and sensitive sequencing technologies for accurate diagnosis.
September 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a germline variant in PLCD1 as a major risk allele for familial trichilemmal cysts, requiring a subsequent somatic mutation in the same allele for cyst formation.
This study identified a 14,883 bp genomic deletion affecting the Plcd1 and Vill genes as likely responsible for the abnormal phenotype observed in snthr-1Bao mice.
185 citations
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June 2011 in “Molecular and cellular endocrinology” This review discusses the regulation and function of vitamin D and its receptor in skin cells, highlighting their roles in processes such as proliferation inhibition, differentiation, and innate immunity, but reports no new results.
158 citations
,
August 2011 in “Reviews in endocrine and metabolic disorders” This review examines the functions of vitamin D and its receptor in skin and explores how these are regulated, reporting no new clinical results.
78 citations
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November 2005 in “Endocrinology” This study found that Hairless (Hr) acts as a corepressor of the vitamin D receptor (VDR) in human keratinocytes, blocking the action of vitamin D on keratinocyte differentiation.
71 citations
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October 2014 in “The Journal of Steroid Biochemistry and Molecular Biology” This study highlights the complex role of the vitamin D receptor in skin processes, where its disruption, along with calcium and co-regulator imbalances, could contribute to skin cancer development by altering skin differentiation and hair follicle cycling.
January 2025 in “International Journal of Molecular Sciences” This study showed that vitamin D receptor gene-deficient rats exhibit hair loss and skin abnormalities due to differences in gene and protein expression patterns, while ligand-independent VDR action is crucial for normal hair cycle maintenance and skin formation.
65 citations
,
April 2018 in “Oncotarget” This review discusses the potential carcinogenic effects of anabolic androgenic steroids, particularly regarding Leydig cell tumors, and highlights the need for preventive information campaigns due to associated health risks.
4 citations
,
November 2024 in “Cell Biology and Toxicology” This study suggests that targeting olfactory receptors in the lung epithelium might help treat odorant-induced asthma in cases without type 2 inflammation, as these receptors could play a role in airway sensitivity to smells.
5 citations
,
January 2009 in “Elsevier eBooks” This chapter discusses Bayesian networks, their properties, and how they enable probabilistic inference with continuous variables, but it reports no new findings.
April 2026 in “Signal Transduction and Targeted Therapy” In a hamster model of COVID-19, this study observed that both low and high doses of testosterone worsened illness in males, while finasteride prevented severe outcomes.
24 citations
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September 2005 in “Journal of Cellular Biochemistry” This study found that all-trans and 9-cis retinoic acids increase steroid sulfatase activity in HL60 cells through mechanisms involving RARα/RXR heterodimers and multiple signaling pathways.
January 2026 in “International Journal of Applied Pharmaceutics” This study developed a novel LC-ESI-MS/MS method to quantify Minoxidil in pharmaceutical forms, finding it precise, accurate, and robust. It withstands excipient and degradant interference, although Minoxidil degrades under some stress conditions but remains stable thermally.
556 citations
,
September 2008 in “Genes & Development” This review summarizes how genetic studies using conditional β-catenin loss- and gain-of-function mice have advanced understanding of canonical Wnt signaling's role in embryonic development, adult stem cell maintenance, and cancer modeling.
506 citations
,
January 2012 in “Molecular and Cellular Endocrinology” This review details the expression and diverse functions of melatonin receptors in non-neural tissues and reports no new clinical findings, emphasizing their potential as therapeutic targets across various physiological and pathological processes.
401 citations
,
January 2013 in “Postepy Dermatologii I Alergologii” This review discusses the biology and development of skin melanocytes, but reports no new clinical findings.
144 citations
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August 2019 in “Cells” This review discusses the WNT signaling pathway's involvement in human diseases and highlights recent advances in WNT-related treatments, but it presents no new research findings.
103 citations
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June 2018 in “International Journal of Molecular Sciences” This review discusses the applications and research on fibroblast growth factors, including their use in wound healing, diabetes, and cancer, but it reports no new clinical results.
101 citations
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July 2021 in “Nature Communications” This study reported that 4D-printed, aliphatic polycarbonate-based scaffolds supported adipose tissue engineering by allowing adipocyte infiltration and neovascularization in vivo, indicating potential for effective adipose tissue repair.
82 citations
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September 2018 in “Nature Communications” This study found that stimulating the olfactory receptor OR2AT4 in human hair follicles with a synthetic sandalwood odorant promotes hair growth ex vivo by decreasing apoptosis and increasing IGF-1 production.
75 citations
,
June 2019 in “International Journal of Molecular Sciences” This review discusses the therapeutic potential of costunolide for various diseases, highlighting its bioactivity and mechanisms, but it reports no new experimental results.
65 citations
,
February 2009 in “The journal of investigative dermatology/Journal of investigative dermatology” This paper discusses the hypothesis that anti-acne agents may work by reducing FGFR2 signaling, and emphasizes FGFR2's potential role in acne pathogenesis, but it reports no new experimental findings.
18 citations
,
July 2021 in “Molecular Medicine Reports” This review summarizes existing knowledge of how the WNT signaling pathway affects mesenchymal stem cells under various conditions, highlighting challenges and mechanisms for clinical applications.
18 citations
,
September 2018 in “Experimental physiology” This study observed that electro-acupuncture reduced global DNA methylation and DNMT3b expression in a PCOS-like rat model, suggesting a role of hypothalamic DNA methylation in PCOS development and treatment.
17 citations
,
January 2013 in “Journal of Cosmetics, Dermatological Sciences and Applications” This review discusses the potential of bioprinting technology in cosmetology, particularly for improving skin functions like pigmentation restoration and hair follicle development, but reports no new clinical findings.