June 2024 in “British Journal of Dermatology” This article presents a family case study of dermatopathia pigmentosa reticularis linked to a specific KRT14 gene variant, detailing symptoms and stressing the importance of molecular diagnosis for management.
51 citations
,
December 2006 in “Mammalian Genome”
January 2026 in “Figshare” This study found that the ASLNC168501 pathway has significant potential for restoring hair follicle stem cell function and promoting hair regeneration in androgenetic alopecia by counteracting the AR/miR-128-3p/IGF-1 pathway dysfunction.
October 2002 in “Dermatologic Surgery” This notice corrects an article on fluridil for androgenetic alopecia, indicating potential conflicts of interest due to the authors' patent holdings and funding source; it reports no new research findings.
January 2004 in “Drug Development and Industrial Pharmacy” This study explored the solubility and crystal structure of GI197111X, a 5-alpha reductase inhibitor for androgenetic alopecia, finding its solubility in Capmul MCM suitable for a soft gel dosage form.
45 citations
,
July 2009 in “Journal of human genetics” This study found that an SNP in the FGFR2 gene, rs4752566, was significantly associated with hair thickness in Asian populations, suggesting an effect on hair morphology through altered FGFR2 expression levels.
July 2024 in “Journal of Investigative Dermatology” In these two clinical trials, DS-2325a, a KLK5 inhibitor, was found to be generally safe and well tolerated in healthy volunteers, with mild and non-serious adverse events, suggesting its potential for further development as a treatment for Netherton Syndrome.
June 2025 in “Bioactive Materials”
1 citations
,
September 2021 in “Cureus” This study found that the rs1128977 SNP in the RXRG gene may be linked to altered clinical characteristics such as higher HDL-cholesterol levels and increased body mass index in individuals with dyslipidemia.
April 2022 in “Microbiology and Immunology” This study suggests that a specific short sequence repeat in Malassezia restricta may be linked to increased colonization and the development or exacerbation of androgenetic alopecia.
January 2025 in “Dermatology Reports” This case report describes a 61-year-old Italian man with a rare, localized variant of junctional epidermolysis bullosa linked to the R795X mutation in the COL17A1 gene, highlighting the importance of precise diagnosis for effective management of rare genetic disorders.
May 2026 in “Free Radical Biology and Medicine” 1 citations
,
April 2025 in “Skin Health and Disease” This study is collecting real-world data to evaluate abrocitinib and conventional systemic treatments in moderate-to-severe atopic dermatitis across five European registers over a three-year period.
August 2023 in “Zenodo (CERN European Organization for Nuclear Research)”
13 citations
,
September 2011 in “International Urology and Nephrology” April 2010 in “Dermatology Times”
June 2026 in “Zenodo (CERN European Organization for Nuclear Research)” This research outlines an innovative bioregeneration chamber aimed at significantly extending human lifespan and enhancing health maintenance by treating the body as a thermodynamic system, potentially enabling an average lifespan of 130 to 150 years in an advanced therapeutic setting.
36 citations
,
July 2014 in “Neuromuscular Disorders” This study investigated a patient with spinal and bulbar muscular atrophy who had 68 CAG repeats, revealing early onset and unique symptoms not previously documented in the condition.
6 citations
,
January 2020 in “Czech Journal of Animal Science” This study found that specific SNPs in the sheep FAT1 gene are significantly associated with wool quality traits, suggesting potential markers for improving wool crimp, fibre length, and fibre diameter in breeding.
23 citations
,
December 2013 in “British Journal of Dermatology” This study identified a new PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis.
October 2024 in “Journal of the Endocrine Society” This study examined uncharacterized CYP21A2 gene variants related to non-classic congenital adrenal hyperplasia and found that several mutations reduce enzyme activity, which may help improve diagnostic and treatment strategies.
June 2023 in “Zenodo (CERN European Organization for Nuclear Research)”
April 2018 in “Journal of Investigative Dermatology” This study found that 1550-nm Er:Glass fractional laser treatment significantly increased hair density and shaft diameter in patients with androgenetic alopecia, though the mechanism may not involve Wnt10A or IGF-1 expression.
April 2024 in “European Journal of Dermatology” This study suggests that the PPP2R3C gene may confer susceptibility to psoriatic arthritis and psoriasis vulgaris in Chinese patients, with additional possible associations involving IL-23R, ERN1, IFIH1, and KIF3A genes.
5 citations
,
June 2023 in “BMC genomics” This study found that a specific genetic mutation in the Fgf5 gene may contribute to the long-hair trait in Angora rabbits by reducing the binding capacity of the FGF5 protein.
October 2021 in “Postepy Dermatologii I Alergologii” In this study, researchers found no significant association between selected CYP19A1 and ESR2 gene SNPs and female androgenetic alopecia in the Polish population studied.
May 2025 in “Frontiers in Genetics” This study reported discovering a novel missense variant in a case of autosomal recessive woolly hair in a 31-year-old Chinese woman, which significantly reduced secretion of the encoded protein, likely leading to disease by impairing its hydrolytic function.
10 citations
,
March 2021 in “Clinical Cosmetic and Investigational Dermatology” This study found that specific genetic variants in the CYP21A2 and CYP19A1 genes were associated with severe acne vulgaris among Han Chinese, particularly in male patients.
July 2026 in “Journal of the American Academy of Dermatology”
June 2026 in “Zenodo (CERN European Organization for Nuclear Research)” This study presents the design of an autonomous bioregeneration chamber that aims to extend human lifespan to 130-150 years by optimizing biological and environmental conditions, suggesting that a longer healthspan is possible through technological, nutritional, and socio-economic interventions.