In this study of women in Swabi, 26.04% were diagnosed with Polycystic Ovary Syndrome, with Hyperandrogenism and phenotype A being the most common presentations.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a novel G207E STING mutation causing a distinct phenotype involving alopecia, photosensitivity, and thyroid dysfunction, and suggests that common polymorphisms in TMEM173 and IFIH1 may influence disease presentation.
75 citations
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September 2007 in “Journal of Heredity” This study found that mutations in the FGF5 gene are the primary genetic factor causing long hair in domestic cats through an autosomal recessive mechanism.
May 2025 in “Experimental Dermatology” This study found that specific TRPM5 modulators are unlikely to directly affect sebaceous glands, but safe TPPO analogues may provide moderate lipogenic and anti-inflammatory effects beneficial for dry skin conditions.
This study identified that manifestations of Long COVID can be detected through routine symptoms and diagnoses in electronic health records following COVID-19 admissions, as compared to non-COVID hospitalizations.
66 citations
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April 1989 in “Alcoholism Clinical and Experimental Research” This study found that the ethanol patch test effectively indicates the ALDH phenotype in healthy Japanese individuals, suggesting its usefulness for future research.
37 citations
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January 2022 in “Frontiers in Genetics” This study found that dermal sheath stem cell characteristics are lost with aging in humans, affecting skin rejuvenation and structure, and identified specific proteins like Activin A influencing keratinocyte and fibroblast activity.
28 citations
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July 2005 in “Journal of Investigative Dermatology” Sca-1+ cells in newborn mouse skin may become fat cells.
25 citations
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September 1995 in “Biochemistry and Cell Biology” This study found that high levels of human cytokeratin 16 expression in transgenic mice lead to skin lesions and altered keratinocyte structure, suggesting potential implications for human skin disorders and wound healing.
14 citations
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August 2015 in “Endocrinology” This study describes the development of a monoclonal antibody, 005-C04, which blocks PRLR-mediated signaling, suggesting its potential for furthering understanding of PRLR's role in health and disease.
8 citations
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April 2016 in “Experimental Dermatology” The researchers reported that in mice, the type of tumor suppressor deleted along with oncogenic Kras activation in HFSCs influenced the specific squamous cell carcinoma phenotype that developed.
4 citations
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February 2025 in “GeroScience” This study found that restoring hypothalamic NPY levels in mice delayed aging-related characteristics such as fat loss, hair loss, and memory decline, suggesting that maintaining these levels could be important for counteracting aging and its effects.
2 citations
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December 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, overexpression of miR-29 in mice led to aging-related phenotypes and early lethality, demonstrating its significant role in driving aging processes.
1 citations
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October 2022 in “JCI insight” In this study, conditional deletion of BRD4 in OX40-expressing cells of mice led to alopecia, dermatitis, and loss of hair follicle stem cell function, revealing BRD4's role in skin inflammation and stem cell regulation.
1 citations
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August 2013 in “The Journal of Cell Biology” This study found that Wnt secretion is important for skin homeostasis in mice, as Evi-deficient mice developed skin lesions resembling psoriasis and showed immune cell imbalance.
This study found that enhancing quercetin bioavailability with EubioQuercetin significantly improved external aging signs in mice and influenced gut microbiota and intestinal gene expression, suggesting potential modulation through the gut microbiota–intestinal barrier axis.
This case report details a child with a specific TNFAIP3 mutation manifesting as a severe SLE/SS phenotype, expanding the known phenotype for this genetic variant.
July 2024 in “Journal of Investigative Dermatology” Human epidermal stem cells divide faster than previously thought.
November 2023 in “Journal of Investigative Dermatology” Removing GRK2 in skin cells causes hair loss similar to immune-related alopecia.
March 2012 in “Journal of Pediatric and Adolescent Gynecology” This study found that BMI was the only significant predictor of elevated androgen levels in adolescents with PCOS, and hyperandrogenemia was not linked to a specific PCOS phenotype.
August 2022 in “Nutrients” This ex vivo study found that hair follicles in female pattern hair loss exhibited nutrient insufficiency and dormant metabolism, but maintained nutrient uptake capability, suggesting potential benefits of nutritional supplementation as an adjunct therapy.
July 2011 in “British Journal of Dermatology” Hormone treatment caused hair loss, finasteride helped regrowth.
5 citations
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June 2024 in “Phenomics”
April 2026 in “Preprints.org” The study found that enhancing quercetin bioavailability with EubioQuercetin may amplify its anti-aging effects in mice by modulating the gut microbiota and improving intestinal barrier function.
This study used quantitative methods to identify new geometric and mechanical parameters of curly and kinky/coily hair, aiming to improve classification and develop better personal care products for these hair types.
1 citations
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January 2021 in “Research journal of pharmacy and technology” 1 citations
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December 2017 in “International Journal of Public Health Science (IJPHS)” This study found no significant difference in obesity rates across various phenotypes of PCOS in high-school girls, but highlights the future health risks associated with hyperandrogenism.
July 2022 in “Fayoum University Medical Journal” This paper discusses polycystic ovarian syndrome (PCOS) and reports no new results; the authors highlight the complexity and heterogeneity of this endocrine disorder.
85 citations
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June 2015 in “Scientific Reports” This study applied semantic text-mining to identify phenotypes linked to over 6,000 diseases, demonstrating that these phenotypes can accurately identify known disease-associated genes, creating a human disease network based on phenotypic similarity.
60 citations
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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.