June 2025 in “Proceedings of the National Academy of Sciences” In this study, a mouse model with a PIK3CA gain-of-function mutation in Schwann cells revealed unique communication with neighboring cells and a glycolytic shift in peripheral nerves, and early alpelisib treatment significantly improved symptoms, though efficacy declined with delayed administration due to limited drug penetration.
August 2016 in “Journal of Investigative Dermatology” This study found that the activity of CD73, an enzyme expressed in the hair follicle epithelium, may regulate human hair growth by modulating adenosine production.
3 citations
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January 2008 in “Endocrine journal” In this case report, the authors describe a partial androgen insensitivity syndrome patient with a novel AR gene mutation, highlighting challenges in gender assignment decisions for infants with partial AIS.
1 citations
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January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study developed a mouse model to mimic PHGDH gene copy number gain, finding that increased PHGDH expression leads to abnormal melanin production, which may offer insights into its role in melanoma.
24 citations
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March 2016 in “Journal of Investigative Dermatology” This study suggests that TIP39 and its receptor PTH2R, identified in human epidermis, may play a role in keratinocyte function and influence skin differentiation.
November 2010 in “International Journal of Developmental Neuroscience” 37 citations
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January 2010 in “Human Molecular Genetics” In this study using mice with specific gene knockouts, both farnesyltransferase and geranylgeranyltransferase-I were found to be essential for the proliferation and survival of skin keratinocytes.
7 citations
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July 2005 in “Journal of Dermatological Science” This study identified a gene transcript overexpressed in dermal papilla cells, showing strong similarity to a mouse gene associated with adipose tissue in bombesin receptor subtype-3-deficient mice.
This study identified UBC22 as a novel E2 enzyme responsible for Lys11-linked ubiquitination in Arabidopsis, revealing its crucial roles in seed setting, female gametophyte development, and pathogen resistance.
December 2024 in “Biochemical and Biophysical Research Communications” LMWP-PDGFA shows promise for improving hair health and treating hair loss with fewer side effects.
19 citations
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January 2019 in “Animals” This study suggests that PDGFA and BMP2 play a role in the hair follicle cycle in cashmere goats, with PDGFA particularly involved in activating the growth phase.
March 1998 in “Journal of Dermatological Science” Keratin-associated proteins may have roles in various mouse tissues, not just hair.
This study found that VDAC2 promotes apoptosis in secondary hair follicle stem cells of Albas cashmere goats by activating the P53 signaling pathway, with knockdown of VDAC2 reducing apoptosis and a P53 inhibitor partially rescuing VDAC2-induced apoptosis.
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.
April 2008 in “Expert review of dermatology” Mutations in the P2RY5 gene cause hereditary woolly hair.
In this study, researchers identified the c.296C>T (p.T99I) variant in the KRT32 gene, which co-segregates with loose anagen hair syndrome, and found it decreases binding affinity to KRT82, potentially weakening hair anchorage.
October 2024 in “Journal of the Endocrine Society” This study found that certain CYP21A2 mutations significantly reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia phenotypes, which may aid in enhancing diagnosis and treatment strategies.
January 2015 in “OpenBU/Boston University Institutional Repository (Boston University)” This study reported that NRP2 expression in melanocytes and melanocyte stem cells is linked to migration inhibition and potentially melanoma progression, suggesting its role as a target for understanding melanoma and hair follicle biology.
9 citations
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July 2022 in “Journal of Biological Chemistry” This study in mice found that WWP2 facilitates odontoblast differentiation and dentin formation by targeting PTEN for degradation, thereby enhancing KLF5 activity, which may suggest its crucial role in dental development.
May 2022 in “Benha Journal of Applied Sciences” This study found that programmed death-ligand 1 (PD-L1) levels correlated with the severity of alopecia areata, suggesting its potential as an indicator and possible target for new treatments.
19 citations
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December 2015 in “Journal of Investigative Dermatology” This study found that keratin 17 expression is initially down-regulated and later strongly up-regulated by ionizing radiation in a rat model, with p53 repressing early transcription.
In this study, Paljeong-san pharmacopuncture reduced dihydrotestosterone levels and inhibited prostate tissue proliferation in a rat model of benign prostatic hyperplasia.
This study found that inhibiting AP-1 activity in mice can induce lineage transdifferentiation between squamous and sebaceous tumors, suggesting AP-1's role in maintaining tumor cell identity.
January 2009 in “China Practical Medicine” This study found that several genes, including capping protein, palladin, VEGF, and HSPC-related clones, might cooperatively influence the aggregation, proliferation, and cycle control of dermal papilla cells, potentially affecting hair follicle behavior.
4 citations
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May 2022 in “Genes & Diseases”
2 citations
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February 2023 in “Transgenic Research” In this study, the presence of the HPV11-E2 protein in transgenic mice was found to increase and vary the expression of a reporter gene in hair follicle bulge regions.
This study found that the optimized topical AR antagonist 39, derived from 14-P1, demonstrated potent AR antagonism and comparable efficacy to pyrilutamide in a hair-growth mouse model, with a faster onset and favorable safety profile.
April 2023 in “Journal of Investigative Dermatology” This study found that treprostinil, a prostacyclin analog, significantly delayed fibroblast migration from healthy donors but did not affect fibroblast migration derived from diabetic foot ulcers.
1 citations
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September 2020 in “Journal of dermatology” This study identified a novel mutation and confirmed a previous mutation in the LIPH gene in a woman with autosomal recessive woolly hair, expanding the mutation spectrum for this condition.
This study found that isolated human scalp hair follicles express PGE2 genes and EP2 protein, suggesting PGE2 may play a crucial role in regulating hair growth.