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.
13 citations
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November 2012 in “PLoS ONE” This study identified a novel recessive mutation in mice causing lethal congenital lamellar ichthyosis, with skin and hair follicle alterations similar to human congenital ichthyoses, linked to a specific genetic defect affecting Fatp4.
324 citations
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May 2002 in “Oncogene” In this study, PDLLA treatment in middle-aged mice was observed to enhance hair growth by increasing macrophage M2 polarization and hair follicle stem cell proliferation, potentially rejuvenating the skin's microenvironment and offering a novel approach for age-related hair loss.
April 2026 in “Human Genome Variation” In this study, researchers identified a recurrent MBTPS2 splice-site variant as a mutational hotspot in IFAP syndrome across diverse families, with phenotype severity suggesting the influence of additional modifiers.
477 citations
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March 2004 in “Proceedings of the National Academy of Sciences” This study reports that the DMI3 gene, essential for nodule formation in legume-rhizobial symbiosis, encodes a calcium/calmodulin-dependent protein kinase, highlighting its role in multiple plant symbioses.
September 2024 in “Journal of the American Academy of Dermatology” In this case report, a 53-year-old woman with Little-Graham-Piccardi-Lassueur-Syndrome responded well to a treatment regimen of hydroxychloroquine, methotrexate, and other therapies, effectively halting the progression of this rare dermatosis characterized by alopecia and hyperkeratotic eruptions.
20 citations
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January 2002 in “Laboratory Animals” This study identified a compound heterozygous mutation in a hairless rhesus macaque, which was associated with skin abnormalities similar to those in hairless mice and humans with APL.
47 citations
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September 2012 in “Human molecular genetics online/Human molecular genetics” This study suggests that the interaction between folliculin and plakophilin-4 (p0071) may play a role in folliculin's tumor suppressor function by regulating RhoA signaling, impacting cell migration and junction formation.
51 citations
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January 2004 in “Domestic animal endocrinology” This study concluded that an endogenous circannual rhythm of prolactin secretion in mouflon influences their seasonal hair growth and moulting cycle, which varies under different photoperiodic and melatonin treatments.
20 citations
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May 2013 in “International Journal of Molecular Medicine” This study identified a novel missense MAFB variant in a family with some unaffected members, suggesting incomplete penetrance and the potential influence of modifier genes, epigenetic mechanisms, or environmental factors on MCTO phenotype.
105 citations
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February 1996 in “Journal of biological chemistry/The Journal of biological chemistry” In this study, sequences upstream of the TGM3 gene were found to regulate epithelial-specific gene expression in keratinocytes, suggesting potential applications in gene therapy.
August 2020 in “Research Square (Research Square)” This study found that PD-MSCs overexpressing PRL-1 inhibited adipogenesis in orbital fibroblasts from Graves' ophthalmopathy patients, potentially offering a new therapeutic approach for degenerative diseases.
August 2025 in “BMC Pharmacology and Toxicology” The LTF gene may help predict and manage nonspecific orbital inflammation.
15 citations
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May 2016 in “Archives of Dermatological Research” This study found significantly higher levels of the protein ULBP3 in patients with alopecia areata incognita compared to other hair loss conditions and healthy controls, suggesting ULBP3's potential as a diagnostic marker for AAI.
3 citations
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April 2022 in “Frontiers in Physiology” This study found that loss of the Ptch2 receptor in mice leads to increased incisor growth and enhanced mesenchymal stem cell differentiation, highlighting Ptch2's role in organ regenerative potential.
44 citations
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February 2012 in “The journal of neuroscience/The Journal of neuroscience” This study observed that Ptprq mutant mice exhibit significant abnormalities in hair bundle structure and vestibular dysfunction, suggesting similar issues may contribute to hearing loss and vestibular problems in humans with PTPRQ mutations.
January 2025 in “Scripta Medica” In this study, PDO, PLLA, and PCL thread implants in ageing rat skin did not alter MMP1 gene expression but maintained collagen levels similar to young skin without UV-B exposure, suggesting possible benefits for skin collagen but not gene expression modification.
This study found that WISP-1 plays a key role in ligamentum flavum fibrosis through the Hedgehog-Gli1 pathway, with cyclopamine showing potential to reduce fibrosis effects in a rabbit model.
7 citations
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June 2012 in “Journal of dairy science” This study found that topical application of bovine milk polar lipids accelerated hair cycle progression in mice, showing potential for use in cosmetic products.
7 citations
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April 2019 in “Animal biotechnology” This study observed that POMP is strongly expressed in the root sheath hair follicles of Liaoning Cashmere goats and its expression can be regulated by certain factors, which may influence cashmere growth.
220 citations
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June 2013 in “The Journal of Pathology” This study found that immune privilege collapse in the hair follicle bulge and associated immune responses may contribute significantly to the pathogenesis of lichen planopilaris, suggesting a potential autoimmune basis for the disease.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” This study reports that cannabinoid receptor type 1 may influence psoriasis development by modulating laminin-511 expression, suggesting a potential target for treatment.
April 2018 in “Journal of Investigative Dermatology” This study found that the protein p63 requires morphogenetic signals to regulate gene expression effectively during skin cell differentiation, highlighting its complex role in therapeutic reprogramming for conditions like epidermolysis bullosa.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” This study suggests that mitochondrial dysfunction might contribute to the pathogenesis of Lichen planopilaris by triggering a metabolic shift that leads to chronic inflammation and hair follicle damage.
2 citations
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January 2024 in “Advances in Dermatology and Allergology” This study suggests a potential role for S100A7 and IL-17 in the pathogenesis of lichen planopilaris.
December 2021 in “Figshare” This study found that BBS7 downregulation in occlusal hypofunctional PDL affects Sonic hedgehog signaling activity, impacting PDL homeostasis.
April 2026 in “Journal of Investigative Dermatology” This study highlights that ZNF750, a zinc-finger transcription factor, is crucial for epidermal differentiation and barrier formation in skin by activating genes involved in lipid processing and stratum corneum development, and links ZNF750 sequence variations to skin inflammatory diseases like psoriasis.
11 citations
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August 2010 in “Developmental neurobiology” This study suggests that Ptprq in the hair bundles may exist as multiple isoforms that are differentially expressed throughout development and affect the organization of stereocilia in the chick inner ear.
September 2021 in “CRC Press eBooks” This review discusses the clinical and trichoscopic features of lichen planopilaris and notes its potential underdiagnosis prior to hair transplant, but it reports no new findings.