October 2014 in “Dialnet (Universidad de la Rioja)” This research concluded that Snail2's absence in myeloid progenitors promotes tumor progression in mice, and specific zinc fingers are crucial for Snail1 and Snail2's roles in establishing epithelial-to-mesenchymal transition.
November 2022 in “Journal of the Endocrine Society” This case report highlights a novel NR5A1 gene variant associated with a severe 46,XY disorder of sex development, stressing the importance of genetic screening in similar cases.
March 2011 in “European Urology Supplements” Blood tests for tumor cells could improve prostate cancer diagnosis and treatment; hair loss severity linked to a gene affecting prostate conditions.
30 citations
,
June 2021 in “British Journal of Dermatology” This review discusses the association between WNT10A gene variants and various ectodermal disorders, highlighting their clinical relevance in dermatology and dentistry, but reports no new findings.
January 2024 in “Research Square (Research Square)” This study identified robust susceptibility genes and potential drug candidates for male-pattern baldness, providing insights into the condition's molecular mechanisms.
March 2011 in “European Urology Supplements” CEC levels may be a useful marker for predicting prostate cancer progression.
20 citations
,
June 2019 in “Experimental Dermatology” This study identified 14 genes affected by copy number variants that may contribute to alopecia areata, including four genes notably involved in autophagy and chromatin remodeling.
10 citations
,
May 2007 in “Oncology Reports” This study found that increased metastatic ability in colorectal cancer in a rat model was linked to changes in expression of multiple genes, including TGF-beta, PDGFb, and Rho B.
February 2022 in “Research Square (Research Square)” This study identified candidate genes related to hair follicle development in Merino sheep, providing insights for improving sheep wool quality and potentially understanding human hair growth mechanisms.
August 2025 in “Dermatology and Therapy” This study conducted a meta-analysis of gene expression data from alopecia areata patients, identifying 5109 differentially expressed genes and highlighting enriched pathways like JAK-STAT signaling, providing insights into the disease's pathogenesis and potential treatment targets.
6 citations
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November 2017 in “Scientific reports” This study found that a novel R343H mutation in the vitamin D receptor gene impairs its transcription activity, contributing to hereditary vitamin D-resistant rickets and alopecia in the affected family.
24 citations
,
June 2012 in “BMC Research Notes” This study outlines the Human Gene Correlation Analysis tool, which classifies human genes by coexpression levels and identifies overrepresented annotation terms in correlated gene groups, with no new clinical results reported.
6 citations
,
January 2010 in “Springer eBooks” SA linked to mitochondrial issues and oxidative stress, while AGA involves disrupted hair growth genes.
October 2022 in “Research Square (Research Square)” This study found that type I interferon response-related genes activated by RIG-1 and IL-17 pathways were significantly up-regulated in hair follicle and skin samples with chronic discoidal lupus erythematosus.
1 citations
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March 2025 in “Frontiers in Physiology” This study identified key genes linked to immune cells and potential therapeutic compounds for alopecia areata by evaluating upregulated genes from patient datasets, highlighting T and NK cell involvement in hair follicle attack and suggesting drug candidates through molecular docking and dynamics simulations.
11 citations
,
January 2020 in “BMC pediatrics” This case report identified two new SLC39A4 mutations in twin patients with acrodermatitis enteropathica, suggesting that different mutations in this gene may lead to varying clinical manifestations of the disorder.
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.
December 2022 in “Research Square (Research Square)” In this study, type I interferon response-related genes activated by RIG-1 and IL-17 signaling pathways were significantly up-regulated in both hair follicles and skin tissues affected by chronic discoidal lupus erythematosus.
14 citations
,
June 2022 in “BMC genomics” This study identified key genes involved in hair follicle development in Merino sheep, offering insights for improving wool production and providing a basis for future breeding programs.
12 citations
,
June 2021 in “Scientific Reports” This study identified aging-related epigenetic and transcriptomic biomarkers and suggested that curcumin might target and inhibit the JUN gene, implicating potential therapeutic strategies against aging.
4 citations
,
January 2020 in “Cells” This study found that the transcriptome of skin stem cells in mice changes significantly with age, revealing specific age-dependent biological programs and transcriptional hubs.
62 citations
,
January 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified 16 novel high sulfur KAP genes and two KAP pseudogenes on chromosome 21q23, showing expression in a specific region of the hair fiber cuticle.
9 citations
,
March 2020 in “Gene” In this study, certain genetic variations in the ESR1 and ESR2 genes were strongly associated with polycystic ovary syndrome and related metabolic issues in Tunisian women.
7 citations
,
June 2024 in “Communications Medicine” In this study, researchers analyzed spaceflight data from various sources and found that skin issues during spaceflight are linked to DNA damage, mitochondrial dysregulation, and gene alterations, while also highlighting the skin's adaptability post-flight.
3 citations
,
September 2024 in “Frontiers in Bioscience-Scholar” This study reported that Pantaneiro sheep from the Pantanal region of Brazil exhibit greater genetic variability and adaptability compared to the commercial Texel breed, highlighting their potential for further research and importance in Brazilian sheep farming.
February 2024 in “Veterinary sciences” This study found that canine pemphigus foliaceus skin lesions exhibit a distinct immune signature, with upregulated pro-inflammatory and Th17-related genes, showing similarities to human pemphigus. Further research using advanced sequencing is needed to better understand the disease's pathogenesis.
35 citations
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May 2019 in “Frontiers in genetics” This study reported that specific non-coding RNAs may regulate the hair follicle cycle in Angora rabbits by acting as competitive endogenous RNAs, enhancing understanding of ncRNA roles in hair growth.
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.
18 citations
,
February 2006 in “Genomics” A new genetic mutation in mice causes permanent hair loss and skin wrinkling.
47 citations
,
April 2021 in “BMC Medical Genomics” This systematic review and meta-analysis reported potential risk variants for acne in genes related to inflammation and sebaceous gland function, including TNF, CYP17A1, and FST, across diverse populations.