April 2010 in “Cancer Research” In this study, Stat3 activation in transgenic mice led to a decrease in stem cells in the hair follicle bulge, suggesting its crucial role in epidermal growth and stem cell maintenance.
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.
11 citations
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January 1997 in “Journal of Dermatological Science” This study identified a human sequence likely coding for a new ultra-high sulphur protein, which may aid in understanding hair differentiation and the molecular basis of human trichothiodystrophy.
73 citations
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December 2015 in “Nature Genetics” This study found that the Dun camouflage color in horses is due to TBX3 expression, which causes uneven pigment deposition, whereas non-dun coat colors result from regulatory mutations affecting TBX3 expression.
April 2023 in “Journal of Investigative Dermatology” In this study using a mouse model of Pemphigus vulgaris, researchers found that loss of desmoglein 3 adhesion in hair follicle stem cells triggers a regenerative program restoring stem cell function, requiring Hedgehog pathway suppression.
11 citations
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October 2017 in “Oncotarget” This study found that Wnt5a regulates hair follicle differentiation in mice by mediating epithelial-mesenchymal interactions and influencing dermal papilla cell activities.
3 citations
,
February 2018 in “Experimental and Molecular Medicine/Experimental and molecular medicine” This study suggests that hair loss disorders like Marie Unna hereditary hypotrichosis may result from mutations that disrupt post-transcriptional regulation of HR protein expression by PCPB2 interacting with Hr mRNA.
36 citations
,
September 1999 in “Journal of Cell Science” This study suggests that basonuclin may act as a tissue-specific transcription factor for ribosomal RNA genes by interacting with the promoter region necessary for high transcription levels in human keratinocytes.
16 citations
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September 2015 in “International Journal of Molecular Sciences” In this study, a genetic analysis identified a pathogenic variant in the ALOXE3 gene associated with non-bullous congenital ichthyosiform erythroderma, and the patient's response to antifungal treatment highlights the risk of cutaneous fungal infections.
July 2022 in “Institutional Repositories DataBase (IRDB)” 3D spheroid cells effectively test hair growth compounds like Minoxidil.
19 citations
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February 2016 in “Journal of Biological Chemistry” In this study, researchers observed that knocking out KCNQ3 in mice increased firing frequencies in response to stimuli, particularly at slow mechanical indentation velocities, indicating a role in mechanosensory neuron sensitivity.
11 citations
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February 2018 in “Oncotarget” This study observed that reduced activation of SMAD2/3 proteins in cutaneous squamous cell carcinoma tissue compared to adjacent tissue may indicate a tumor suppressor role in disease progression.
September 2021 in “Research Square (Research Square)” This study reports that despite rescuing neurulation and skin barrier defects, Grhl3 gene overexpression in mice leads to hearing impairment, hair loss, and other developmental abnormalities, highlighting low tolerance for Grhl3 dysregulation.
4 citations
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August 2023 in “Nature Communications” In this study, researchers observed that the combination of hair progenitors and their micro-niche changes every three days in mouse zigzag hair, and disruptions in specific genes affected this rhythm, highlighting the importance of this periodic change for normal hair morphology.
This study found that mutations in the PADI3 gene, which is important for hair shaft formation, may contribute to central centrifugal cicatricial alopecia among patients.
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.
14 citations
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April 2011 in “Journal of the American Academy of Dermatology” Researchers found a gene mutation responsible for a rare hair loss condition.
86 citations
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November 2015 in “Journal of Gastroenterology” This study reported that the NUDT15 R139C genetic variant was significantly associated with thiopurine-induced leukocytopenia in Japanese inflammatory bowel disease patients, independent of 6-thioguanine nucleotide levels.
November 2022 in “Journal of Investigative Dermatology” This study found that MPZL3 knockout mice showed reduced dermal white adipose tissue and increased sebocyte proliferation, suggesting a regulatory role for MPZL3 in lipid metabolism balance between adipocytes and sebocytes.
February 2026 in “UiTM Institutional Repositories (Universiti Teknologi MARA)” This study found that cis-urocanic acid can engage in non-enzymatic reactions with reactive sulphur species, forming new metabolites, and suggests sulphide donors may protect against UVB-related toxicity.
1 citations
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August 2019 In this study, researchers developed a pemphigus mouse model expressing anti-Desmocollin 3 antibodies and found it mimicked atypical pemphigus with distinct pathological features compared to the standard Desmoglein 3 model.
12 citations
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July 2015 in “Experimental Dermatology” This study found that overexpression of Gsdma3 in mice led to epidermal hyperplasia, skin inflammation, and hair growth defects, suggesting gain-of-function mutations in Gsdma3 cause these conditions.
1 citations
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January 2001 in “PubMed” This study proposes that the terminal tuft structure in sensory nerve endings, involving Schwann cell processes and axon fingers, potentially plays a role in mechano-electric transduction in rats.
11 citations
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December 2020 in “G3 Genes Genomes Genetics” This study confirmed that chi-miR-130b-3p regulates the proliferation of epithelial cells and dermal fibroblasts by targeting the WNT10A gene, which may help maintain hair follicle structure.
10 citations
,
June 2021 in “Journal of Investigative Dermatology” GNPTAB gene is crucial for normal hair color in humans and mice.
49 citations
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October 2009 in “Cancer research” This study found that disrupting Stat3 in keratinocyte stem cells of mice reduced skin tumor formation by approximately 80%, suggesting Stat3's role in tumor initiation survival mechanisms.
December 2022 in “KSBB Journal” This study suggests that autophagy is essential for regulating TLR3-mediated regenerative processes in human keratinocytes.
26 citations
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December 1990 in “Journal of Biological Chemistry” In this study, elevated mRNA levels for serine-rich ultra high sulfur proteins were observed during active hair growth phases in mice, particularly in the forming hair structures and upper skin layers.
November 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that conditional deletion of Mof in mice resulted in severe defects in skin development, including compromised epidermal differentiation and hair growth, leading to perinatal lethality.
This study identified specific lncRNAs and mRNAs differentially expressed in miniaturized follicles compared to normal follicles in patients with androgenetic alopecia, with AL136131.3 potentially inhibiting hair growth and accelerating follicle transition to catagen through effects on glycolysis-related genes.