26 citations
,
June 2018 in “The journal of immunology/The Journal of immunology” This study demonstrated that AIRE-deficient rats exhibit key symptoms of APECED, making them a relevant model for exploring potential treatments.
27 citations
,
October 2011 in “British Journal of Dermatology” This study builds on previous findings by associating female pattern hair loss with gene polymorphisms related to oestrogen activity, suggesting oestrogen's role in the condition.
4 citations
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April 2019 in “Gynecological Endocrinology” This study found that the rs 1570360 polymorphism and the T-G-C haplotype of the VEGF gene may be associated with a protective factor against polycystic ovary syndrome in a Brazilian population.
March 2026 in “Bioengineering & Translational Medicine” This study reported that a modified version of Thymosin beta 4, called PEG-rTβ4, demonstrated potential as a treatment for acute myocardial infarction by improving cardiac function and reducing cell death via specific biochemical pathways, suggesting its promise in drug development efforts.
19 citations
,
March 2017 in “Scientific Reports” This study suggests that the protease HAT-L4 plays a significant role in maintaining epidermal barrier function to prevent body fluid loss, as its absence in mice led to increased fluid loss and higher mortality.
May 2023 in “International journal of molecular sciences” This study investigated the role of the ABCA4 gene in human keratinocytes and hair follicle stem cells and found that silencing the ABCA4 gene increases the harmful effects of all-trans-retinal on hair follicle stem cells.
24 citations
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October 2019 in “Genes” In this study, the identification of a novel KAP gene in sheep, named KRTAP36-1, was associated with increased prickle factor in wool, suggesting its potential as a genetic marker for breeding purposes.
1 citations
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January 2024 in “International Journal of Applied Biochemistry and Molecular Biology.” In this case-control study, EGF levels were significantly higher in patients with alopecia areata than in healthy controls, and these elevated levels positively correlated with the severity and extent of the disease, suggesting EGF as a potential marker for alopecia areata severity.
28 citations
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August 2014 in “Journal of Assisted Reproduction and Genetics” This study found that the VEGF +405G/C polymorphism may be an inheritable risk factor for polycystic ovary syndrome in south Indian women.
July 2026 in “Journal of the American Academy of Dermatology” Estetrol (E4) can help hair grow longer by extending its growth phase.
81 citations
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February 2019 in “Experimental & Molecular Medicine” This review examines PAK4 signaling pathways in prostate cancer, Parkinson's disease, and melanogenesis, focusing on the potential role of the PAK4-CREB axis, without reporting new clinical results.
31 citations
,
July 2012 in “Journal of Lipid Research” This study found that the acyl-CoA binding protein is essential for the production of very long chain free fatty acids in the stratum corneum and maintaining normal epidermal barrier function in mice.
3 citations
,
January 2013 in “Dermatology” This study identified novel compound heterozygous mutations in the hairless gene among a non-consanguineous Chinese family with congenital atrichia, illustrating phenotypic variations due to founder or modifier genes.
23 citations
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September 2017 in “Journal of the American Academy of Dermatology” This article hypothesizes that apremilast, a phosphodiesterase 4 inhibitor, could be a targeted treatment for alopecia areata due to its ability to suppress interferon-gamma production, but reports no new clinical results.
93 citations
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April 2003 in “Proceedings of the National Academy of Sciences of the United States of America” This study identified an unexpected critical role for the FATP4 protein in skin and hair development in mice, linking it to a potential candidate gene for restrictive dermopathy in humans.
January 2019 in “Journal of the Egyptian Women's Dermatologic Society (Print)” This study found that patients with androgenetic alopecia exhibited higher levels of cardiovascular risk markers, with hs-CRP identified as a significant independent predictor of cardiovascular disease risk.
42 citations
,
July 2007 in “Journal of Biological Chemistry” This study found that most pathogenic HR mutants associated with atrichia with papular lesions had abolished corepressor activity due to defective interactions with histone deacetylases.
4 citations
,
January 2011 in “Annals of Dermatology” This article discusses the role of HR gene mutations in differentiating atrichia with papular lesions from alopecia universalis, but presents no new experimental results.
February 2024 in “Pediatric Dermatology” In this case report, the researchers identified pathogenic compound heterozygous mutations in a young girl with lipoid proteinosis, noting her relatively mild symptoms and recommending genetic testing for early diagnosis and management of this rare condition.
68 citations
,
July 2011 in “Journal of Biochemistry/The journal of biochemistry” This review discusses newly identified non-Edg family lysophosphatidic acid receptors, detailing their roles in vascular development, platelet activation, and hair growth, and reports no clinical results.
1 citations
,
November 2025 in “Aging Cell” This review discusses the role of the ectodysplasin A2 receptor as a biomarker and driver of ageing related to inflammation, and its potential therapeutic implications, but reports no new clinical findings.
January 2016 in “International journal of reproduction, contraception, obstetrics and gynecology” This study found that the IGF2 gene Apa1 A820G polymorphism is associated with an increased risk of developing PCOS in the studied population.
October 2023 in “Benha Journal of Applied Sciences” This review evaluates the role of the nuclear receptor PPAR- in skin diseases, highlighting its regulation of inflammation, lipid metabolism, and immune response, and suggests that PPAR-agonists could be promising therapies for conditions like psoriasis and atopic dermatitis.
1 citations
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March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
This study suggests that the ANE syndrome mutation in yeast Nop4, analogous to human RBM28, disrupts protein folding and protein-protein interactions, contributing to ribosomal dysfunction.
August 2016 in “Journal of Investigative Dermatology” This case report identifies a novel LIPH gene mutation linked to autosomal recessive woolly hair/hypotrichosis in a Japanese boy, expanding the spectrum of known mutations associated with this condition.
September 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that N-acetyl-GED may protect and partially rescue human hair follicles from experimentally-induced epithelial-mesenchymal transition ex vivo, suggesting its potential in treating scarring alopecias like lichen planopilaris.
73 citations
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June 2010 in “PLoS Genetics” This study identified that a deficiency in the palmitoyl transferase enzyme, due to a mutation in the Zdhhc13 gene, led to severe physiological abnormalities in mice, including skin, bone, and systemic amyloid issues.
January 2024 in “International journal of molecular sciences” This study found that boosting the synthesis of neural-derived 17β-estradiol effectively counteracted the impairment of hippocampal long-term potentiation caused by amyloid beta 1-42 in rat hippocampal slices, with the effect seemingly linked to glutamate NMDAR signaling.
18 citations
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June 2016 in “Brain Research” Increasing TSPO in the brain may help improve memory problems.