14 citations
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January 2013 in “Hormone and Metabolic Research” This study found that in patients with nonclassical 21-hydroxylase deficiency, genotypes do not reliably predict the severity of hyperandrogenic symptoms, suggesting other genetic factors may influence the phenotype.
4 citations
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December 2022 in “Frontiers in cell and developmental biology” This review discusses the use of zebrafish larvae as an alternative model for studying ototoxicity, facilitating large-scale screening for otoprotective compounds, but reports no new clinical results.
December 2025 in “Journal of Skin and Stem Cell” This study found a higher prevalence of lipid abnormalities in individuals with androgenetic alopecia, especially in severe cases, highlighting the need for early screening and treatment to prevent cardiovascular complications.
September 2025 in “Cureus” This study found that 19.5% of young girls screened using the Rotterdam criteria were diagnosed with polycystic ovarian syndrome, highlighting the importance of early screening and intervention.
April 2024 in “Indian Scientific Journal Of Research In Engineering And Management” This review discusses the prevalence and contributory factors of polycystic ovarian syndrome and reports no new clinical findings; the authors emphasize the importance of early detection through screening.
This review found an increased prevalence of common skin disorders, such as infectious and inflammatory conditions, in patients with Down syndrome and highlighted the need for improved screening and management guidelines.
62 citations
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January 2013 in “Skin Pharmacology and Physiology” This study found that low serum ferritin and vitamin D2 levels are associated with hair loss in females with chronic telogen effluvium and female pattern hair loss, suggesting potential benefits of screening and supplementation.
60 citations
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September 2013 in “Alimentary Pharmacology & Therapeutics” This review discusses the dermatological adverse events from immunosuppressive and anti-TNF therapy in IBD, finding increased risks of non-melanoma skin cancer and other skin conditions, and recommends regular cancer screening.
56 citations
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April 2015 in “American journal of medical genetics. Part A” This study reports on eight previously unpublished cases of Bohring-Opitz syndrome with ASXL1 mutations, suggesting the importance of screening for Wilms tumors in these patients.
44 citations
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June 2018 in “Journal of Cellular Physiology” This study found that using 3D dermal papilla spheroid models enhances extracellular matrix production and hair follicle marker expression, providing insights into hair follicle biology and potential for drug screening.
3 citations
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September 2024 in “Journal of Pre-Clinical and Clinical Research” This study reviews the current understanding of psychiatric disorders in women with PCOS, finding links to the gut-brain axis, neurotransmitter and neuroendocrine dysfunction, and suggests the need for routine mental health screening in these patients.
July 2026 in “International Journal of Innovative Technologies in Social Science” This review found that while treating keratosis pilaris is challenging, current therapies can lead to significant improvement, particularly when tailored to the individual's specific disease phenotype and concerns.
April 2026 in “Frontiers in Medicine” In this study, young female medical students at King Saud University reported a higher prevalence of physician-diagnosed PCOS compared to similar Western populations, and hirsutism was notably associated with the condition, highlighting the need for early screening and health education.
October 2025 in “Frontiers in Molecular Biosciences” This source critically examines Bruce Ames's influential contributions to biochemistry, particularly his theories on oxidative stress and mitochondrial DNA damage in aging, while acknowledging current challenges to his work and highlighting his lasting impact on the fields of mutagen screening and public health.
October 2025 in “Progress In Microbes & Molecular Biology” This review reveals that PCOS is consistently linked to gut microbiota dysbiosis, characterized by reduced microbial diversity and shifts in composition, which are associated with various PCOS phenotypes and may present opportunities for microbiota-targeted therapies addressing the disorder's underlying pathophysiological mechanisms.
September 2023 in “medRxiv (Cold Spring Harbor Laboratory)” This study found that many conditions in patients with COVID-19 were significantly increased compared to controls, with specific phenotypes identified across different demographic and diagnostic attributes.
In this study, depression and anxiety were prevalent in Thai women with PCOS, with hirsutism being a key factor linked to these mental health issues, suggesting a need for targeted screening.
October 2018 in “International journal of reproduction, contraception, obstetrics and gynecology” This study found that in women with PCOS in Port Harcourt, Nigeria, glucose homeostatic disorders were common, particularly among those with higher testosterone levels, suggesting the need for glucose disorder screening in this population.
July 2019 in “Journal of the Formosan Medical Association” Melatonin may help with nerve pain, a hepatitis C drug is effective but has side effects, a treatment for mouth sores works but can cause blood issues, ear reconstruction with an implant is safe, HIV transmission from mother to child in Taiwan is now 0% with treatment, certain blood problems are more common in people with a tongue condition, a gene and being overweight are linked to hair loss in some women, a new technique could reduce radiation for lung nodule patients, a hepatitis treatment may lower cancer recurrence after a procedure, and adding extra screening improves tuberculosis detection in patients with lung infections.
January 2026 in “BMC Veterinary Research” The researchers reported finding a recessive nonsense variant in the EGFR gene responsible for perinatal lethality in the "Blonde d'Aquitaine" cattle breed, prompting the development of a screening test to help eradicate this genetic flaw.
18 citations
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June 2017 in “Proceedings of the National Academy of Sciences of the United States of America” In this mouse study, hair growth defects associated with the Gk5 null allele were partially alleviated by simvastatin treatment, suggesting GK5 plays a key role in skin-specific cholesterol regulation.
9 citations
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January 2014 in “Molecular Genetics and Metabolism Reports” This study discovered that a specific G to C mutation in the ornithine aminotransferase gene is linked to the retarded hair growth phenotype in mice and may serve as a model for human gyrate atrophy.
8 citations
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December 2019 in “Molecular genetics and metabolism reports” This study found that early biochemical screening and molecular confirmation are crucial for distinguishing profound from partial biotinidase deficiency, which supports timely treatment and management in symptomatic children.
August 2025 in “American Journal of Case Reports” In this case report, researchers describe a 13-year-old phenotypic female with 46,XY karyotype, previously misdiagnosed with androgen insensitivity syndrome, who was later identified to have 17-beta-hydroxysteroid dehydrogenase type 3 deficiency, underscoring the importance of genetic and hormonal tests for accurate diagnosis of sex development disorders.
15 citations
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March 2022 in “Frontiers in Bioengineering and Biotechnology” This study found that fucoidan significantly inhibited lung cancer cell phenotypes while sparing normal cells and altered gene expression, suggesting its potential for lung cancer therapy.
1 citations
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June 2021 in “The Indonesian Biomedical Journal” This study concluded that 2-hour oral glucose tolerance tests are crucial for screening glycemic disorders in women with PCOS, as HbA1c was found to be an unsatisfactory tool for predicting glycemic disorders within this group.
November 2025 in “International Journal of Clinical Obstetrics and Gynaecology” This study found evidence for a genetic basis of polycystic ovary syndrome, indicating an autosomal dominant pattern of inheritance among first-degree relatives.
1 citations
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November 2023 in “BMC chemistry” In this study, researchers used computational modeling and virtual screening to identify two FDA-approved drugs, Tadalafil and Finasteride, that may effectively inhibit key proteins involved in melanoma progression, suggesting potential for new therapeutic strategies against aggressive melanoma.
15 citations
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October 2013 in “Journal of the American Academy of Dermatology” This study found that in adults with vitiligo, certain autoimmune diseases are associated with factors like age, sex, and extent of vitiligo, suggesting tailored screening strategies based on these variables.
65 citations
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September 2014 in “BMC genomics” This research found that variations in the KRTAP gene family are likely responsible for the diverse hair phenotypes seen among mammals, influenced by gene repertoire differences, expression, and evolutionary factors.