42 citations
,
September 2007 in “The Journal of Clinical Endocrinology and Metabolism” This study found that women with PCOS who have an exaggerated 17-hydroxyprogesterone response to buserelin exhibit more severe hyperandrogenemia, increased insulin secretion, and reduced insulin sensitivity.
37 citations
,
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.
30 citations
,
July 2019 in “Endocrinology” This review discusses how the HSD3B1(1245C) genotype may impact androgen physiology and the progression of castration-resistant prostate cancer, and does not report new experimental results.
28 citations
,
April 2014 in “Hormones” This study found that increased serum A4A levels were associated with more severe polycystic ovary syndrome phenotypes and could be a useful marker for biochemical hyperandrogenemia.
19 citations
,
July 2015 in “Journal of inherited metabolic disease” This study observed that while betaine supplementation decreases total homocysteine and increases methionine levels in a mouse model of CBS deficiency, it is not as effective as methionine restriction in reversing associated phenotypes.
14 citations
,
January 2025 in “Reproductive Medicine and Biology” This review emphasizes the importance of considering race and ethnicity-specific factors in diagnosing and treating polycystic ovary syndrome (PCOS) and calls for diagnostic criteria tailored to these differences.
8 citations
,
January 2011 in “Experimental and Therapeutic Medicine” This review summarizes the characteristics of the peri-malignant melanoma stroma, indicating its potential role in early dermal metastatic migration and increased metastasis risk.
4 citations
,
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.
4 citations
,
October 2021 in “Journal of Clinical Medicine” This study found that individuals with heterozygous truncation-type variants in the *DSP* gene exhibit lower skin temperature and higher transepidermal water loss, with specific microscopic skin changes and pseudomonilethrix.
4 citations
,
February 2016 in “Experimental Dermatology” The researchers concluded that blocking α1-integrin altered adhesion and enhanced migration in adult fibroblasts, suggesting its potential as a target for therapies aimed at reducing fibrosis.
2 citations
,
August 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This review discusses the genetic origins of autosomal recessive woolly hair with hypotrichosis and reports no clinical results; it highlights the link to homozygous variants in the K25 keratin gene.
2 citations
,
December 2014 in “Experimental Dermatology” In this study, overexpression of Wnt5a in transgenic mice did not produce psoriasis-like skin changes but affected hair follicle cycling, suggesting its potential relevance to hair disorders rather than psoriasis.
1 citations
,
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
,
December 2018 in “Journal of genetic medicine” In this case report, a 20-year-old male with tricho-rhino-phalangeal syndrome was found to have a de novo frameshift mutation in the TRPS1 gene, highlighting the challenges in diagnosing this rare disorder.
1 citations
,
December 2015 in “Balkan Journal of Medical Genetics” This study found no significant difference in the prevalence of CYP21A2 mutations between couples with unexplained fertility problems and healthy controls, but identified an association between the c.290-13A/C>G mutation and clinical issues like hormone deviations and polycystic ovary syndrome.
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.
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 new geometric and mechanical parameters for curly and kinky/coily hair, which may inform more effective personal care products tailored to these hair types.
February 2021 in “PARIPEX INDIAN JOURNAL OF RESEARCH” This study found that women with PCOS had a higher prevalence of hypothyroidism compared to those without PCOS, especially among the obese PCOS subgroup.
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.
June 2026 in “International Journal of Reproduction Contraception Obstetrics and Gynecology” This study found that serum Anti-mullerian hormone (AMH) levels are significantly elevated in women with polycystic ovary syndrome and can serve as a useful biomarker for diagnosis, especially when ultrasonography is unavailable.
May 2026 in “Frontiers in Medicine” This study describes a patient with Rothmund–Thomson syndrome-like symptoms who displayed hair improvement after combination therapy, despite carrying an ANAPC1 gene variant of uncertain significance.
March 2026 in “Oral Presentations” This abstract reports pooled safety data from the WILLOW study for participants with cutaneous lupus erythematosus and systemic lupus erythematosus but does not provide new findings.
March 2025 in “Experimental Dermatology” This study found that transgenic mice overexpressing IKZF1 developed lesions similar to alopecia areata, suggesting that Ikaros may play a role in the disease's pathogenesis. Ikaros expression was also higher in human alopecia areata patients compared to controls.
April 2024 in “Institutional Repositories DataBase (IRDB)” This study identified 11 previously unreported ABCA12 variants associated with varying severities of autosomal recessive congenital ichthyoses and expanded the phenotype spectrum of ichthyosis linked to these variants.
November 2023 in “Journal of Investigative Dermatology” Removing GRK2 in skin cells causes hair loss similar to immune-related alopecia.
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.
May 2019 in “CINECA IRIS Institutial Research Information System (University of Genoa)” This study found that patients with the MITF p.E318K variant are more likely to develop multiple primary melanomas and dysplastic nevi with uncommon dermoscopic patterns compared to non-carriers.
30 citations
,
January 1997 in “ILAR Journal” This review details the development and genetic background of senescence-accelerated mouse strains, provides a comprehensive examination of their phenotypes, and highlights their importance for aging research, but reports no new experimental results.
5 citations
,
June 2024 in “Phenomics”