1 citations
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October 2023 in “Heliyon” In this study, the researchers reported a new case of Hutchinson-Gilford progeria syndrome with a novel LMNA mutation and successful surgical intervention for airway obstruction.
152 citations
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April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” This study presents evidence that keratitis–ichthyosis–deafness syndrome is caused by a mutation in the connexin 26 gene, expanding the gene's known involvement in various disorders.
91 citations
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November 2008 in “Journal of biological chemistry/The Journal of biological chemistry” This study found that DGAT1 functions as a key enzyme in murine skin to regulate retinoic acid levels and prevent retinoid toxicity, impacting hair cycle and sensitivity to retinol.
10 citations
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June 2022 in “Development” This study suggests that distinct chromatin topologies allow different lineage-specific enhancers to regulate Hoxd genes in mouse vibrissae and chicken feather primordia, while conserved regulatory elements maintain transcriptional robustness in the embryonic trunk across species.
5 citations
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February 2007 in “Cytology and genetics” This review summarizes advances in understanding the genetic regulation of keratin synthesis in hair follicles and reports no new experimental results.
5 citations
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September 2011 in “Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease” Hairless protein helps control hair growth by regulating vitamin D receptor activity.
3 citations
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February 2022 in “Frontiers in Genetics” This study found that overexpression of the lncRNA AC010789.1 in hair follicle stem cells may suppress androgen alopecia progression by modulating several molecular pathways, suggesting a potential new treatment strategy.
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.
July 2024 in “Journal of Investigative Dermatology” In this animal study, researchers found that the simultaneous deletion of ERBB2 and ERBB3 in mice results in impaired skin differentiation, inflammation, and sebaceous gland alteration, leading to skin lesions, while highlighting potential side effects in cancer therapies targeting these receptors.
This study found that the transcription factor Meis2 regulates the maturation and innervation of sensory neurons in mice, affecting their response to light touch.
January 2024 in “Journal of lipid research” In this study, finasteride was found to reduce cholesterol levels and delay atherosclerosis in LDL receptor-deficient mice, and men using finasteride reported lower cholesterol levels, suggesting potential cardiovascular benefits by improving lipid profiles.
21 citations
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June 2016 in “Genesis” This study identified a gene expression signature in mouse embryonic dermal fibroblasts that depends on Wnt/β-catenin activity, potentially influencing dermal fibroblast identity and function.
24 citations
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September 2023 in “Science Advances” In this study, deleting the gene Mettl3 in mouse epidermal progenitors resulted in impaired epithelial development and self-renewal, highlighting m6A's crucial role in regulating chromatin modifiers and maintaining normal epithelial tissue function.
23 citations
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December 2017 in “Scientific Reports” This study found that the ARL15 gene affects adipocyte differentiation and adiponectin secretion, and suggests that ARL15 haploinsufficiency may predispose individuals to lipodystrophy.
14 citations
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June 2001 in “Endocrinology” This study found that disrupting the PRL gene in mice alters the timing of hair cycling events, causing earlier molts and changes in hair characteristics, particularly affecting female mice more significantly.
February 2016 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” This study reports a novel mutation in the TP63 gene associated with T and B cell lymphopenia in an EEC patient, suggesting that EEC diagnosis should include TREC assay and evaluation for immunodeficiency.
1 citations
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November 2025 in “Clinical and Experimental Medicine” This review highlights the emerging role of long non-coding RNAs (lncRNAs) in dermatology, suggesting that lncRNAs significantly impact signaling pathways involved in normal skin functions and skin diseases, offering potential as biomarkers and therapeutic targets.
81 citations
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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.
December 2023 in “Communications biology” This study found that inhibiting the HEDGEHOG-GLI1 pathway could reduce keloid size and gene expression, suggesting it as a potential therapeutic target for keloid pathogenesis.
48 citations
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July 1993 in “The journal of investigative dermatology/Journal of investigative dermatology” This article reviews the genetic and protein interactions involved in hair growth, highlighting regulatory sequences, expression patterns, and potential genetic modifications, but presents no new experimental findings.
3 citations
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August 2024 In this study, researchers using single nuclei RNA-sequencing found that fibroblasts in deeper layers of mouse skin expressed higher levels of pro-inflammatory genes post-wounding compared to other cells, highlighting their significant role in early inflammation and tissue repair processes.
2 citations
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June 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This review discusses recent advancements in skin epigenetics, focusing on how epigenetic mechanisms regulate gene expression during normal skin function and their dysregulation in conditions like skin disorders and cancer, but reports no new clinical results.
August 2025 in “BMC Pregnancy and Childbirth” In this study, prenatal ultrasonography was found to be a valuable tool for screening ectodermal dysplasia during pregnancy, and a new EDA gene variant associated with X-linked hypohidrotic ectodermal dysplasia was identified, aiding in more accurate diagnoses and reproductive decision-making.
16 citations
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March 2013 in “The Journal of Dermatology” This case report identifies a novel mutation in a patient with trichorhinophalangeal syndrome 1 and reduced TRPS 1 protein expression in hair follicle tissues compared to normal subjects.
103 citations
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March 2015 in “Nature Communications” This study identified a genetic locus associated with idiopathic scoliosis in females, which might influence spinal gene expression and was previously linked to protection from early-onset alopecia.
73 citations
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June 2001 in “Endocrinology” In this study, researchers found that disrupting the PRL gene in mice led to earlier hair molting, especially in females, suggesting that PRL inhibits murine hair cycle events.
November 2025 in “Frontiers in Veterinary Science” In this study, feeding H-line chickens a diet with 1.0% tyrosine for 40 days significantly increased melanin deposition in feathers and revealed changes in gene expression related to melanin pathways, suggesting tyrosine's involvement in regulating feather color through the EDNRB2 regulatory network.
This case report describes a 33-year-old Kashmiri woman with Woodhouse-Sakati syndrome who has a rare DCAF17 gene mutation, c.321+1G>A, providing further evidence for its role in the genetic basis of this neuroendocrine disorder.
67 citations
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November 2019 in “Nature Communications” This study demonstrated that a c-Kit-CreER-driven mouse model confirms melanocyte stem cells as a genuine source of melanoma, paralleling human melanoma in heterogeneity and gene signatures.
7 citations
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January 2021 in “Evidence-based complementary and alternative medicine” This study suggests that porphyra-334 may have antiaging properties, promoting collagen synthesis, improving periorbital wrinkles, and supporting hair follicle growth through gene regulation.