64 citations
,
February 2008 in “Cancer Research” This study reports that eliminating both Trp53 and Rb genes in mouse epidermis accelerates aggressive squamous cell carcinoma development due to early activation of the epidermal growth factor receptor/Akt pathway.
March 2026 in “The Indian Journal of Animal Sciences” This study on Indian dromedary camel breeds investigated the KRTAP7 protein, finding all four breeds shared an identical gene sequence, with 13 phosphorylation and glycosylation sites influencing hair characteristics, alongside predicted interactions with other biosynthesis-related proteins.
37 citations
,
April 2018 in “Journal of Allergy and Clinical Immunology” This study found that a novel IKZF1 mutation, p.L188V, is linked to juvenile-onset systemic lupus erythematosus and alters B-cell activation by disrupting normal DNA binding.
33 citations
,
August 2008 in “American Journal Of Pathology” This study found that K6a expression in mouse sebaceous gland ducts correlates with Hedgehog signaling, suggesting a role in duct fate.
10 citations
,
August 2013 in “Experimental Dermatology” This study found that Hairless (HR) and putrescine form a negative regulatory network that impacts epidermal homeostasis and hair follicle cycling, linked to the MYC superfamily's regulation of ODC expression.
November 2009 in “Medical & surgical dermatology” This study found that haploinsufficiency of SPINK5 can lead to Netherton syndrome when a single null mutation combines with homozygous G1258A polymorphisms, suggesting it acts as a genuine mutation affecting LEKTI function.
70 citations
,
March 1997 in “Journal of Investigative Dermatology”
August 2023 in “Journal of Investigative Dermatology” This study using scRNA-seq on 96 skin biopsies from 51 healthy individuals revealed distinct cell signaling pathways in different skin sites, including unique pathways in facial and palmoplantar skin, which may explain their varying susceptibilities to skin disorders.
14 citations
,
July 2010 in “Experimental Dermatology” A new mutation in the HR gene causes hair loss in a specific family.
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.
7 citations
,
March 2020 in “PloS one” This study demonstrates that α-parvin is crucial for epidermal morphogenesis and hair follicle development by mediating integrin-dependent adhesion and actin organization in keratinocytes.
10 citations
,
November 2018 in “Genetics in medicine” This study identified a genetic variant in the CTS6 gene associated with a hypotrichosis syndrome, emphasizing the significant role of cystatin M/E in hair and skin health.
25 citations
,
January 2014 in “Annals of Dermatology” Sfrp2 increases during hair follicle catagen phase and slows keratinocyte growth.
February 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that Pik3r1 Y657* mice, which model human SHORT syndrome, show increased energy expenditure despite insulin resistance, but this is not due to changes in locomotion, thermoregulation, or Ucp1-dependent thermogenesis, suggesting a different metabolic mechanism may protect against lipotoxicity.
31 citations
,
April 2004 in “Journal of Investigative Dermatology” This study found that a newly identified gene, mK17n, may explain the lack of nail issues in mK17 null mice by compensating for mK17's function in the nail bed.
92 citations
,
April 2009 in “Journal of Investigative Dermatology” The Celsr1 gene is crucial for normal hair patterning in mice.
9 citations
,
November 2021 in “Frontiers in Cell and Developmental Biology” This study found that PBX1 overexpression reduces hair follicle-derived mesenchymal stem cell senescence and apoptosis by alleviating ROS-mediated DNA damage, rather than enhancing DNA repair.
8 citations
,
July 2022 in “International Journal of Molecular Sciences” This study found that in estrogen receptor-positive breast cancer cells, 17β-estradiol repressed polyamine oxidase transcription by interacting with AP-1 sites on its promoter.
38 citations
,
January 2014 in “Journal of Dermatological Science” This study found that Krtap11-1 may play an important role in keratin-bundle assembly in the hair cortex, influencing the physical properties of hair.
2 citations
,
July 2004 in “Cell Biology International” This study found that urokinase plasminogen activator (uPA) is elevated in hyperproliferative hair follicle keratinocytes in mice, and its inhibition significantly reduces their proliferation.
49 citations
,
March 2004 in “Journal of Investigative Dermatology” This study found that the hHa7 gene in hair follicle trichocytes is the first identified to have its expression directly regulated by androgens, suggesting it as a marker for androgen action on hair follicles.
14 citations
,
January 2005 in “Cell Stress and Chaperones” 28 citations
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November 2018 in “Journal of cellular physiology” This study found that miR-124 may facilitate the differentiation of hair follicle stem cells into neuronal cells by targeting Sox9 and Ptbp1.
May 2025 in “Acta Dermato Venereologica” The Paxbp1 gene is crucial for healthy hair follicles.
49 citations
,
August 2004 in “The FASEB Journal” This study found that transgenic mice expressing human keratin K8 in the epidermis showed increased progression of skin lesions toward malignancy, suggesting a role for K8 in the development of invasive skin cancer.
82 citations
,
December 2011 in “Journal of Biological Chemistry” This study discovered that a network controlled by the gene p63 is crucial for keratinocyte differentiation and is linked to MYC through cell adhesion-related pathways.
November 2025 in “Figshare” In this study, six metabolic reprogramming-related genes, including SQSTM1, were significantly associated with alopecia areata, with elevated SQSTM1 mRNA and protein levels observed in affected hair follicles compared to healthy controls.
105 citations
,
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.
88 citations
,
July 2008 in “Development” This study shows that BMP2 and BMP7 play complex, necessary roles in feather development by regulating dermal condensation formation, with BMP7 acting early as a chemoattractant and BMP2 halting cell migration.
75 citations
,
September 2016 in “EMBO journal” This study found that PRC2 plays a crucial role in maintaining intestinal homeostasis by supporting progenitor cell proliferation and limiting secretory lineage differentiation.