40 citations
,
July 2019 in “Journal of Investigative Dermatology” In this study, knockout mice lacking the Cyp4f39 gene showed severe skin barrier dysfunction and high early mortality, suggesting its critical role in skin barrier formation and insights into ichthyosis pathogenesis.
June 2023 in “Frontiers in Genetics” This study suggests that the curly hair phenotype in Mangalitza pigs may involve complex gene interactions related to calcium signaling and lipid metabolism, rather than changes in TRPM2 or CYP4F3 expression.
February 2024 in “Skin research and technology” The researchers in this study identified molecular mechanisms involved in frontal fibrosis alopecia, highlighting immune response and fatty acid metabolism, and developed a four-gene diagnostic model showing high accuracy in distinguishing affected individuals from controls.
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.
11 citations
,
September 2011 in “British Journal of Dermatology” New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.
10 citations
,
March 2015 in “Journal of dermatology” This case report describes a 12-year-old boy with severe skin scaling due to novel compound heterozygous null truncation mutations in the TGM1 gene, resulting in loss of transglutaminase 1 activity.
9 citations
,
March 2018 in “European journal of dermatology/EJD. European journal of dermatology” This study in a Pakistani family identified a novel ST14 gene variant as the likely genetic cause of autosomal recessive ichthyosis with hypotrichosis syndrome.
4 citations
,
December 2013 in “British Journal of Dermatology” This study reports an association between the ESR2 gene variant rs10137185 and female-pattern hair loss in German patients.
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.
4 citations
,
October 2024 in “Heliyon” This study characterized the CYP154C7 enzyme from *Streptomyces* sp. PAMC26508, highlighting its ability to hydroxylate steroids efficiently, particularly androstenedione, and identified key amino acids important for substrate selectivity and catalytic efficiency.
38 citations
,
June 2018 in “Archives of Toxicology” This review suggests that skin may largely protect itself from CYP-generated reactive metabolites due to higher conjugating enzyme activities, while highlighting limitations in modeling human skin metabolism experimentally.
8 citations
,
December 2020 in “Scientific reports” This study examined the genetic basis for the curly hair trait in Mangalitza pigs, finding two specific genetic variants that contribute to this distinctive phenotype through autosomal dominant inheritance.
April 2026 in “Experimental & Molecular Medicine” This study used integrated single-cell chromatin and transcriptomic analyses in developing mouse skin to uncover gene networks involved in skin lineage specification and identified Mef2c+ upper fibroblasts as potential precursors to certain muscle-like structures, with cross-species findings in human skin.
February 2022 in “Research Square (Research Square)” This study found that high TSPEAR expression in colorectal cancer was associated with poor prognosis and correlated with various tumor and immune-related factors.
January 2022 in “Research Square (Research Square)” This study found that elevated TSPEAR expression in colorectal cancer was associated with poor overall prognosis and correlated with tumor infiltrating immune cells, suggesting its potential as a predictive biomarker.
September 2025 in “Science Advances” This study reports that PADI4, an enzyme involved in posttranslational protein modifications, regulates progenitor cell transitions in hair follicle development by repressing transcription and interacting with translational and ribosomal processes.
247 citations
,
August 2011 in “European Journal of Epidemiology” This article outlines the rationale, design, major findings, and updated objectives of the ongoing Rotterdam Study, without presenting new research data.
81 citations
,
June 2012 in “European journal of human genetics” This review outlines a diagnostic framework for clinicians to distinguish different types of inherited ichthyoses and suggests further testing and treatment strategies, but reports no new clinical results.
55 citations
,
March 2015 in “Carcinogenesis” This study found that WNT10A is significantly upregulated in human esophageal squamous cell carcinoma and is associated with enhanced tumor cell migration, invasion, and poor survival.
28 citations
,
January 2018 in “Biochemical Society Transactions” This review explores the role of fatty acids and bioactive lipid mediators in skin health and suggests targeting this metabolic network to control inflammation and improve skin conditions, but it reports no new findings.
24 citations
,
November 2021 in “PLoS ONE” In this study, fractional laser treatment was observed to reverse age-related gene expression changes in skin and enhance dermal remodeling, further improved by multiple treatments.
22 citations
,
June 2012 in “PLOS ONE” In this study, researchers found that impaired cholesterol biosynthesis in hair follicles may trigger an inflammatory immune response linked to primary cicatricial alopecia, providing new insights into the disorder's pathogenesis.
16 citations
,
January 2011 in “Archives of Dermatological Research” This study identified 77 genes with significant expression changes in expanded human skin, suggesting possible mechanisms for skin regeneration during tissue expansion, including previously unreported genes like HOXA5, HOXB2, and AP1.
13 citations
,
November 2012 in “PLoS ONE” This study identified a novel recessive mutation in mice causing lethal congenital lamellar ichthyosis, with skin and hair follicle alterations similar to human congenital ichthyoses, linked to a specific genetic defect affecting Fatp4.
13 citations
,
October 2010 in “Pharmacogenomics” This study constructed a panel of pharmacokinetic and pharmacodynamic genes, revealing that current SNP chips insufficiently capture many drug-response gene variants, highlighting the need for complementary genetic approaches.
10 citations
,
March 2022 in “Communications biology” In this study, researchers found that non-invasive analysis of skin surface lipid RNAs revealed alterations in gene expression patterns associated with atopic dermatitis, suggesting its potential for understanding skin disease pathophysiology.
8 citations
,
January 2013 in “The scientific world journal/TheScientificWorldjournal” This review explores the potential use of plucked hair follicles in regenerative medicine and diagnostics but presents no new research findings.
6 citations
,
September 2024 in “Metabolism and Target Organ Damage” This review discusses the role of skin enzymes in drug metabolism and emphasizes the need for models assessing enzyme activity to evaluate the safety and bioequivalence of topical generic drugs, highlighting efforts to standardize testing protocols for transdermal products.
2 citations
,
April 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that skin surface lipids contain measurable mRNAs, providing a non-invasive way to study skin diseases, with specific gene expression changes observed in atopic dermatitis patients.
December 2025 in “Scientific Reports” In this study, researchers observed that DHEA-induced PCOS rats experienced significant changes in gut microbiota and metabolic profiles, particularly affecting steroid and lipid metabolism, suggesting the gut-ovary axis may play a role in the pathogenesis of PCOS.