January 2022 in “Mammalian Genome” This study found that the wavy coat trait in Nakano cataract mice is polygenic, involving major and minor genes, and resembles human curly scalp hair associated with the PRSS53 gene alteration.
November 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, mice lacking the Mcpip1 gene in their myeloid cells did not develop SCC-like tumors but instead showed increased melanocyte activity and hair loss, indicating a distinct role for myeloid Mcpip1 in skin cancer development compared to keratinocyte Mcpip1.
53 citations
,
May 1996 in “The Journal of Clinical Endocrinology & Metabolism” This study identified multiple mutations in the 5 alpha-reductase-2 gene among male pseudohermaphrodites in the Dominican Republic, suggesting they do not share a common ancestry.
87 citations
,
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.
January 2014 in “生命科学(ISSN1934-7391)” A certain gene variation can affect protein production and is linked to male pattern baldness.
January 2015 in “DukeSpace (Duke University)” This study found that deleting transferrin receptor 1 in specific mouse tissues led to varied lethal outcomes, demonstrating its diverse roles beyond iron uptake.
10 citations
,
January 1997 in “Dermatology” This case report details two siblings with trichothiodystrophy, identifying reduced hair sulfur content as essential for diagnosis despite varied symptoms complicating recognition.
4 citations
,
August 2022 in “Cells” This study found that the lncRNA lncRNA2919 is involved in hair follicle regeneration by downregulating growth-related genes, inhibiting cell proliferation, and promoting apoptosis in rabbit dermal papilla cells.
65 citations
,
November 2013 in “The EMBO Journal” HDAC1 is crucial for skin development and preventing tumors.
January 2022 in “Current Enzyme Inhibition” This study found that two novel nonsteroidal derivatives inhibited specific enzymes in vitro and in vivo, leading to dihydrotestosterone accumulation in androgen-dependent glands, suggesting potential therapeutic use for mood improvement in the elderly.
134 citations
,
January 2011 in “Development” This study found that disrupting Adam10 in the epidermis led to severe skin and multi-organ abnormalities, implicating Adam10 as crucial for proper Notch signaling and skin maintenance.
January 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that DNA methylation regulates hair follicle differentiation in cashmere goats by suppressing gene expression during induction and enhancing it during differentiation, with potential involvement of specific lncRNAs.
199 citations
,
April 2010 in “Nature” A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
175 citations
,
December 1980 in “Archives of Dermatology” In this study, researchers examined two new cases of trichothiodystrophy and observed that the condition is linked to decreased synthesis of high-sulfur matrix proteins in hair.
This study identified ALDH1A1 as a regulator of melanogenesis and suggests its inhibition, through agents like cyanamide, may be a promising therapeutic approach for treating hyperpigmentation disorders such as melasma.
9 citations
,
April 2006 in “International Journal of Dermatology” This article reviews the potential for α-difluoromethylornithine to help control hair growth and prevent cancer, but it does not present new clinical results.
43 citations
,
April 2011 in “AJP Endocrinology and Metabolism” This study found that androgens increase Odc1 expression in skeletal muscle myoblasts, promoting proliferation and delaying differentiation.
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.
42 citations
,
February 2019 in “Circulation” This study observed that DNA damage response (DDR) plays a key role in pressure overload-induced cardiomyocyte hypertrophy, with disruption of the ATM kinase pathway potentially modulating this hypertrophy in mice.
34 citations
,
November 1998 in “Journal of Investigative Dermatology” A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.
This article reviews the history and characteristics of the rare nude phenotype SCID, primarily distinguished by severe T cell immunodeficiency and notable skin and hair abnormalities, but reports no new clinical findings.
28 citations
,
November 2018 in “Journal of Cellular and Molecular Medicine” This review discusses the role of the CXXC5 protein as a transcription factor and signaling coordinator, noting its involvement in embryonic development, tissue homeostasis, and diseases such as tumorigenesis, but reports no new experimental findings.
47 citations
,
September 2012 in “Human molecular genetics online/Human molecular genetics” This study suggests that the interaction between folliculin and plakophilin-4 (p0071) may play a role in folliculin's tumor suppressor function by regulating RhoA signaling, impacting cell migration and junction formation.
11 citations
,
November 2015 in “Carcinogenesis” In this study, researchers found that deleting TNFα in PKCε transgenic mice reduced the development of cutaneous squamous cell carcinomas induced by UV radiation or a chemical protocol.
100 citations
,
May 2006 in “American Journal Of Pathology” Matriptase is crucial for skin barrier, hair growth, and may contribute to skin cancer.
132 citations
,
August 2008 in “Development” This research found that Dlx3 plays a central role in hair formation and regeneration, with its absence leading to alopecia through disrupted differentiation and signaling pathways.
April 2018 in “Journal of Investigative Dermatology” In this study, researchers identified CENPV as a new CYLD interacting partner that localizes to primary cilia and regulates acetylated tubulin levels, offering insights into the pathogenesis of skin appendage tumors.
25 citations
,
November 2017 in “Molecular Medicine Reports” This study found that PlncRNA‑1 may enhance the proliferation and differentiation of hair follicle stem cells by upregulating the TGF‑β1-mediated Wnt/β-catenin signaling pathway.
December 1963 in “Medical Entomology and Zoology” This study found that Wnt1a overexpression from bone marrow mesenchymal stem cells enhanced hair follicle regeneration in mice by promoting the dermal papilla's role in hair cycling and gene expression recovery.
37 citations
,
January 1986 in “Carcinogenesis” This study found that TPA treatment transiently induces high levels of ODC in mouse epidermal cells, particularly around hair follicles, with localization reduced by retinoic acid or cycloheximide pretreatment.