260 citations
,
July 2010 in “Cell” This study identifies mutations in the SRD5A3 gene as a cause of a new type of congenital disorder of glycosylation, impacting mental, ophthalmologic, and cerebellar functions.
81 citations
,
July 2008 in “The Journal of Clinical Endocrinology and Metabolism” This study found that cortisone reductase deficiency is caused by inactivating mutations in the H6PD gene, affecting cortisol metabolism by preventing 11β-HSD1 enzyme function.
62 citations
,
February 2011 in “Expert review of dermatology” This review discusses the incidence, reversibility, and impact of chemotherapy-induced alopecia and concludes that scalp cooling is the most effective prevention method in most cases, though some questions remain.
53 citations
,
April 2021 in “Cell Host & Microbe” This study found that skin microbiota, particularly in wild-type mice, promotes wound-induced hair follicle neogenesis and wound healing, highlighting the potential downsides of routine antibiotic use on skin regeneration.
30 citations
,
April 2017 in “Journal of structural biology” This study suggests that human keratin fiber matrix has a well-defined nano-scale grainy structure rather than being amorphous, with grain size influenced by chemical treatments, temperature, humidity, and follicle-level factors.
8 citations
,
February 2025 in “Pharmaceuticals” This source reviews the potential of polyphenols as therapeutic and preventive treatments for common skin disorders such as acne, fungal infections, dermatitis, alopecia, and skin cancer, emphasizing their anti-inflammatory and antimicrobial effects and ability to penetrate the skin barrier.
7 citations
,
October 2024 in “Cells” This review discusses the potential of platelet-rich plasma in regenerative medicine and aging-related diseases but notes that clinical efficacy remains unclear due to varying study results and preparation inconsistencies.
1 citations
,
March 2021 in “Current Dermatology Reports” This review highlights various alternative and complementary treatments for androgenic alopecia, noting that while only two FDA-approved options exist, increased awareness among dermatologists of supportive evidence for other therapies may better inform patient education.
January 2024 in “Biotechnology advances” This review highlights the importance of selecting high-quality bioassays in discovering bioactive compounds from marine sources, emphasizing their role in evaluating safety and efficacy during pharmaceutical, food supplement, and cosmetic development.
216 citations
,
May 2003 in “Journal of Investigative Dermatology” This study found that sebaceous-gland-derived glycerol significantly contributes to stratum corneum hydration in mice with sebaceous gland deficiencies.
175 citations
,
August 1997 in “Nature Genetics”
138 citations
,
February 2007 in “European journal of cancer” This review discusses the classification, pathogenesis, and management of skin, hair, nail, and mucosal changes due to EGFR inhibitors, emphasizing the importance of informing patients to improve therapy compliance.
130 citations
,
August 2015 in “Experimental Dermatology” This review provides a comprehensive guide to serum-free human hair follicle organ culture methods, highlighting research opportunities, standardization efforts, and potential applications without reporting new empirical findings.
106 citations
,
March 2013 in “Nature Communications” This study found several microRNA-related genetic variants linked to epithelial ovarian cancer risk, with a notable association at the 17q21.31 region, suggesting potential new susceptibility genes.
89 citations
,
January 2009 in “Advances in Clinical Chemistry” This review discusses the differences in wound healing between fetal and adult skin, highlighting the potential to uncover genes for scarless repair that could improve adult wound healing.
86 citations
,
December 2001 in “Experimental dermatology” This review classifies mutant mice with hair abnormalities into six categories, providing an annotated table that serves as a reference for understanding the molecular controls of hair growth.
75 citations
,
February 2017 in “Aging” This study found that treating mtDNA mutator mice with the antioxidant SkQ1 delayed aging traits and extended their lifespan, potentially by alleviating mitochondrial dysfunction caused by reactive oxygen species.
67 citations
,
November 2019 in “Nature Communications” This study demonstrated that a c-Kit-CreER-driven mouse model confirms melanocyte stem cells as a genuine source of melanoma, paralleling human melanoma in heterogeneity and gene signatures.
60 citations
,
August 2008 in “Human molecular genetics online/Human molecular genetics” This study suggests that a position effect disrupting TRPS1 expression may be linked to hypertrichosis in both Ambras syndrome in humans and a similar phenotype in Koa mice.
57 citations
,
March 2018 in “International Journal of Molecular Sciences” This review highlights recent advances in understanding how the extracellular matrix regulates epidermal stem cell fate, emphasizing the importance of the hair follicle stem cell niche, but reports no new empirical findings.
52 citations
,
January 2022 in “Current Research in Pharmacology and Drug Discovery” This review highlights ongoing efforts in drug repurposing and development of new therapeutics against COVID-19, emphasizing the promise of these strategies in addressing the challenges posed by SARS-CoV-2 mutations and post-infection complications.
50 citations
,
April 2014 in “Nature Communications” This study analyzed skin from 538 knockout mouse mutants and identified 50 with epidermal phenotypes, providing valuable insights into genetic conditions and systemic effects related to skin abnormalities.
41 citations
,
February 2001 in “Current pharmaceutical design” This review discusses current and potential treatments for alopecia areata, focusing on immunosuppressive and immunomodulatory approaches, but provides no new clinical results.
39 citations
,
January 2015 in “International journal for parasitology/International Journal for Parasitology” This study found that Schistosoma mansoni cercariae stimulate epidermal keratinocytes in mice, initiating pro-inflammatory responses and barrier repair mechanisms akin to those in wound healing.
37 citations
,
March 1986 in “Acta Dermato Venereologica” In this study, there was no significant difference in hair growth between patients with extensive alopecia areata treated with 1% minoxidil and those receiving a placebo.
35 citations
,
October 2002 in “Biochemical and Biophysical Research Communications” This study reports that K7 expression patterns observed in mice are similar to those in humans, revealing previously unreported expression in the gastrointestinal tract, tongue, and various "hard" epithelial tissues.
34 citations
,
March 2009 in “Journal of Investigative Dermatology” Proteomic analysis can identify genetic differences in mouse hair, helping understand hair defects and variations.
30 citations
,
January 2014 in “Dermatologic Clinics” This review discusses traction alopecia in individuals with Afro-textured hair and emphasizes the importance of education to prevent this condition, but it reports no new clinical results.
29 citations
,
May 2016 in “Journal of the American Academy of Dermatology” This study observed that patients with alopecia areata had decreased odds of developing stroke and a potential decreased risk of acute myocardial infarction, though the latter was not statistically significant.
29 citations
,
March 2000 in “Journal of Investigative Dermatology” The gene for Marie Unna hereditary hypotrichosis is located on chromosome 8p21.