1 citations
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January 2019 in “Annals of dermatology/Annals of Dermatology” STAT5 is crucial for hair growth in 3D cultured human dermal papilla cells.
9 citations
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April 2018 in “Canadian Journal of Animal Science” This study found that LEF-1 expression influences dermal papilla cells' proliferation through Wnt signaling, impacting the potential for cashmere yield improvement.
32 citations
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May 1999 in “Biochemical and Biophysical Research Communications” This study found that the gene BSSP, a serine protease, is predominantly expressed in sebaceous glands and is overexpressed in nude mouse skin.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” In this case study, a 19-month-old infant with palmoplantar keratoderma and nail dystrophy was found to have a desmoplakin gene mutation, leading to cardiomyopathy by age 7, illustrating diagnostic challenges and the potential link between skin, dental, and cardiac anomalies.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This study suggests a connection between the unfolded protein response and upregulation of NKG2D ligands in stressed hair follicles, highlighting a potential role of PRDX5 in alopecia areata pathogenesis.
13 citations
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July 2012 in “Pigment Cell & Melanoma Research” In this study, researchers identified a new dominant mutation in Hairless mice, called Pied, resulting from a deletion in the Adam10 gene, which causes freckle-like skin pigmentation by inhibiting melanocyte expansion.
January 2018 in “Belarusian State Pedagogical University repository (Belarusian State Pedagogical University)” The study suggests that culturing adipose-derived mesenchymal stem cells into spheroids with Wnt exposure can result in cell clusters resembling hair follicle dermal papilla cells, potentially aiding hair follicle generation.
24 citations
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June 2015 in “Journal of Investigative Dermatology” This study observed that epidermal-specific deletion of aPKCλ in mice disrupts hair follicle stem cell quiescence, leading to altered hair follicle cycling and skin anomalies.
207 citations
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March 2012 in “Development” In this mouse study, researchers found that dermal Wnt signaling/β-catenin activity is essential for fibroblast proliferation and initiating hair follicle formation by interacting with epidermal Wnt ligands.
2 citations
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October 2023 in “PubMed” This study reported the creation of isogenic immortalized COL7A1-deficient keratinocyte lines, providing a model for researching Recessive Dystrophic Epidermolysis Bullosa biology and potential therapies.
23 citations
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June 2010 in “Journal of Investigative Dermatology” This study found that the hair interior defect in AKR/J mice is linked to a mutation in the Soat1 gene, which disrupts SOAT1 protein expression and affects lipid metabolism critical for normal hair formation.
87 citations
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July 2009 in “Journal of Cell Science” The researchers found that corneodesmosin is crucial for maintaining skin barrier integrity and hair follicle architecture in mice, with its deletion leading to severe skin and hair abnormalities.
32 citations
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August 2015 in “Journal of Investigative Dermatology” In this study using a mouse model, Prom1+ dermal papilla cells were found to regulate the size of the papilla via β-catenin communication but did not aid in dermal repair.
24 citations
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February 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers identified two new keratin-associated proteins, hKAP1.6 and hKAP1.7, in human hair follicles, contributing to understanding hair fiber differentiation.
January 2010 in “Life Science Alliance” This study found that in Vdr-knockout mice, hair follicles fail to complete the catagen stage, leading to persistent epithelial strands and subsequent hair loss.
August 2018 in “Journal of Investigative Dermatology” This study found that centrosomes, unlike cilia, are essential for proper epidermal and hair follicle development in mice, with these effects being dependent on the presence of p53.
January 2013 in “Tampere University Institutional Repository (Tampere University)” This study observed that Tudor-SN protein may play a significant role in the immune system and that polyamines can influence hair growth in a mouse model.
2 citations
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September 2004 in “Experimental Dermatology” This study found that desmosomal adhesion plays a crucial role in epithelial morphogenesis and cell positioning, equivalent in importance to that of adherens junctions.
11 citations
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January 2012 in “Journal of cell science” This study demonstrates that Rac1 activity is essential for normal hair follicle formation but influences hair structure and pigmentation, in terminal differentiation, through alterations in hair shaft, cuticle, and pigmentation organization.
February 2022 in “Mediators of Inflammation” This study found that reduced plasma DIAPH1 levels were associated with polycystic ovary syndrome, suggesting DIAPH1 as a potential predictive factor for the condition.
92 citations
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April 2009 in “Journal of Investigative Dermatology” The Celsr1 gene is crucial for normal hair patterning in mice.
April 2017 in “Journal of Investigative Dermatology” In this study, the authors concluded that the TS-associated polyomavirus may disrupt Wnt/β-catenin signaling, likely contributing to abnormal hair follicle formation in trichodysplasia spinulosa.
34 citations
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January 2004 in “Genomics” In this study, researchers identified a cluster of hair-specific keratin-associated protein genes within the 21q22.3 region, revealing a novel transcription mechanism involving TSPEAR/C21orf29 that may bypass typical transcriptional termination sites.
September 2025 in “Journal of Investigative Dermatology” This research found that deleting the SLC3A2 gene in hair follicle stem cells disrupts their maintenance and proper differentiation, leading to hair follicle growth defects and altered skin regeneration through a YAP/Taz-dependent pathway.
28 citations
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July 2007 in “Development” In this study, inactivating the TAF4 subunit of transcription factor TFIID in mouse epidermis disrupted gene expression linked to skin and hair function, and increased tumor risk.
January 1998 in “Differentiation” Basonuclin is crucial for hair follicle development and cycling in mice.
26 citations
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May 2024 in “Molecular Neurodegeneration” This review assesses existing knowledge about the 17q21.31 inversion polymorphism, highlighting its genetic structure differences across ancestries, associations with various diseases, and implications for precision medicine and drug discovery.
5 citations
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July 2022 in “Orphanet journal of rare diseases” This study found that RSPO1 mutations in patients with a 46XX disorder of sexual development contribute to impaired skin integrity and increased risk of squamous cell carcinoma in areas subject to friction.
29 citations
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July 2014 in “PloS one” In this study, Meis1 was found to regulate epidermal homeostasis and act as a proto-oncogenic factor in skin tissues, with differences in expression patterns between normal and tumor cells.
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.