2 citations
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September 2017 in “Journal of Investigative Dermatology” This study found that notch1 signaling is severely impaired in hidradenitis suppurativa patients with or without NCSTN or other gamma-secretase gene mutations, highlighting a canonical defect at the lesional tissue level.
57 citations
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August 2002 in “American Journal Of Pathology” Cathepsin L deficiency causes hair and skin issues in mice.
19 citations
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December 2016 in “PLOS ONE” This study found that proteins secreted by early-passage dermal papilla cells, including SDF1, MMP3, biglycan, and LTBP1, may play significant roles in hair follicle regeneration.
April 2016 in “Journal of Investigative Dermatology” This study found that increasing En1 expression in mouse epidermis can convert cutaneous appendages to eccrine sweat glands, suggesting a role for En1 in eccrine gland development.
75 citations
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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.
181 citations
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January 2009 in “Nature Genetics” In this study, researchers linked defects in U2HR, an inhibitory region in the HR gene, to Marie Unna hereditary hypotrichosis, suggesting a mechanism for controlling hair growth and addressing hair loss.
338 citations
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July 2009 in “Development” This study demonstrates that Sox2-positive dermal papilla cells specify particular hair follicle types by showing heterogeneity in gene expression and pathway activation in these cells.
February 2024 in “Journal of Investigative Dermatology” In this study, the deletion of NIPP1 in keratinocytes led to chronic skin inflammation and epidermal changes in mice, with early cell-cycle arrest and premature senescence observed, potentially contributing to reduced mutagen sensitivity.
54 citations
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April 2019 in “Journal of cellular physiology” In this study, miR-218-5p was found to enhance hair shaft growth and positively regulate the Wnt signaling pathway by targeting SFRP2 during skin and hair follicle development.
January 2018 in “Stem cell biology and regenerative medicine” This paper reviews the role of ATP-dependent chromatin remodeling complexes in epidermal homeostasis, hair regeneration, and skin repair, noting contributions to 3D-genomic organization and suppression of UV-induced hyper-proliferation, without presenting new results.
47 citations
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April 2000 in “Experimental Dermatology” This study identified a novel missense mutation in the hairless gene in a Polish family, which may contribute to congenital atrichia with papular lesions by affecting the gene's function.
32 citations
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April 2016 in “Journal of Investigative Dermatology” This study found that STAT5 activation in the dermal papilla acts as a key switch to trigger anagen entry in postdevelopmental hair follicle cycling.
26 citations
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September 2001 in “Journal of Investigative Dermatology” This study found that the serine protease BSSP is strongly expressed in mouse skin during carcinogenesis and is upregulated independently of c-Fos and unaffected by glucocorticoids.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that skin organoids derived from iPSCs with an HS-associated NCSTN mutation showed defects in hair follicle stem cell differentiation and increased expression of inflammatory proteins related to hidradenitis suppurativa.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified intramembrane proteolysis as a key feature of Astrotactin2 maturation, providing insights into its role in planar cell polarity hair patterning.
November 2025 in “Frontiers in Immunology” In this study, researchers found significant links between specific metabolic reprogramming-related genes and alopecia areata risk, highlighting increased SQSTM1 expression in affected hair follicles compared to healthy ones.
73 citations
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October 2003 in “Journal of Pharmacology and Experimental Therapeutics” This study found that hair depigmentation in mice and humans can be a dynamic indicator of KIT inhibition by the drug SU11248, correlating with treatment periods.
91 citations
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December 2019 in “The EMBO Journal” This study found that the E3 ligases NEDD4 and NEDD4L regulate intestinal stem cell priming by degrading the LGR5 receptor, and their loss leads to increased Wnt activation and crypt proliferation, which in turn accelerates intestinal tumor progression in mice.
September 2016 in “Journal of Dermatological Science” This study reports a case of GGCX syndrome in a 55-year-old Japanese male, characterized by PXE-like symptoms and coagulation deficiency, with an unreported phenotype of possible spinocerebellar degeneration.
July 2025 in “bioRxiv (Cold Spring Harbor Laboratory)” This study developed a potent Wnt surrogate with high specificity for the Fzd7 receptor in mice, promoting full hair follicle regeneration and robust hair growth, suggesting potential applications in tissue development and targeted regeneration.
7 citations
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December 2019 in “Experimental and Therapeutic Medicine” This study examined the effects of WNT10B on dermal papilla cells in vitro, finding that it alters gene expression, decreases protein synthesis, and upregulates a specific signaling pathway, potentially influencing hair follicle morphogenesis.
November 2024 in “Journal of Investigative Dermatology” 3 citations
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May 2024 in “BMC Medical Genomics” This study is the first to identify a de novo heterozygous frameshift insertion variant in the ARID1B gene as a cause of Coffin-Siris syndrome with an association to excessive early-onset high myopia.
April 2017 in “Journal of Investigative Dermatology” This study identified that dominant mutations in the KLHL24 gene cause epidermolysis bullosa through dysregulated autoubiquitination, leading to excessive degradation of keratin 14.
14 citations
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March 2022 in “Plant Cell & Environment” In this study, the authors reported that AtRXR3, a phosphorus-inducible DUF506 protein, modulates root hair growth under phosphorus stress by interacting with calmodulin and influencing calcium oscillations.
24 citations
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January 2019 in “Theranostics” This study found that loss of the Pten gene in Lgr5+ hair follicle stem cells promoted squamous cell carcinoma formation through the Akt/β-catenin signaling pathway.
December 2022 in “Acta Ophthalmologica” In this study, dutasteride treatment in retinitis pigmentosa mice increased photoreceptor survival and reduced glial activation, suggesting it may offer a neuroprotective effect.
January 2012 in “ScholarlyCommons (University of Pennsylvania)” This study found that miRNA biogenesis, facilitated by Dicer and Drosha, is crucial for adult hair follicles' growth and regeneration, highlighting their multiple roles during the hair follicle growth cycle.
10 citations
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July 2015 in “Journal of Cosmetic Dermatology” This study found elevated tissue levels of DKK-1 in patients with both androgenetic alopecia and alopecia areata compared to controls, suggesting DKK-1 as a potential therapeutic target for these conditions.
August 2016 in “Journal of Investigative Dermatology” This case report identifies a novel LIPH gene mutation linked to autosomal recessive woolly hair/hypotrichosis in a Japanese boy, expanding the spectrum of known mutations associated with this condition.