This review discusses forensic DNA phenotyping and its potential applications, particularly for human identification in Latin American populations, but notes challenges due to genetic diversity and reports no new results.
December 2025 in “Pharmaceutics” In this study, araliadiol, a plant-derived compound, exhibited senomorphic effects in three dermal fibroblast senescence models, suggesting its potential as a topical treatment to mitigate skin aging by reducing certain senescence-related markers and increasing procollagen type I content.
68 citations
,
May 2021 in “Endocrine” This review discusses the emerging "endocrine phenotype" of COVID-19, highlighting the implications for managing diabetes, obesity, vitamin D deficiency, and other endocrine conditions in affected patients.
56 citations
,
December 2011 in “Steroids” This review discusses the genetics and variable phenotypic expression of nonclassic congenital adrenal hyperplasia, and reports no new clinical results; the authors call for further research on long-term health impacts and treatment strategies.
47 citations
,
August 2014 in “The Journal of Clinical Endocrinology and Metabolism” This study suggests that variations in PCOS phenotypes observed across different ethnic groups may be due to a genetic gradient resulting from historical human migrations and genetic drift.
11 citations
,
December 2018 in “Assay and Drug Development Technologies” This review highlights the challenges in screening for steroid 5 alpha-reductase inhibitors and discusses significant variability in the effectiveness of finasteride and dutasteride, calling for standardized testing methods to develop safer, more specific inhibitors from herbal preparations.
7 citations
,
October 2020 in “INTERNATIONAL JOURNAL OF SCIENTIFIC RESEARCH” This study found that stress plays a significant role in altering phenotypic features and body composition among PCOS patients, potentially worsening due to the COVID-19 pandemic.
October 2025 in “Communications Medicine” This study found that using a combination of genotypic and primarily phenotypic reanalysis significantly enhances the accuracy of molecular diagnoses in patients suspected of having monogenic diabetes.
25 citations
,
January 2000 in “Hormone Research in Paediatrics” This article reviews androgen insensitivity syndrome and highlights the factors contributing to phenotypic diversity in 46,XY patients with AR gene mutations, reporting no new clinical results.
12 citations
,
January 2016 in “Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie” This study identified a novel mutation in the EDA gene, which may impair protein stabilization and be involved in the development of oligodontia and mild ectodermal dysplasia phenotypes.
11 citations
,
November 2009 in “Sports Medicine” This review explores whether oligomenorrhoea in exercising women is a mild subclinical phenotype of PCOS or part of a spectrum of energy deficiency-related menstrual disturbances, without new clinical results.
January 2026 in “Frontiers in Medicine” This study suggests that coexisting LSS and TSPEAR variants might contribute to a complex phenotype of congenital hypotrichosis and ectodermal abnormalities in a child, and highlights the need for cautious interpretation of genotype-phenotype links and the potential value of broader genetic testing.
January 2024 in “Wiadomości Lekarskie” In this study, researchers analyzed the clinical phenotype and primary pathogenic links in patients who survive the acute phase of a critical illness and rely on prolonged intensive care, finding that these patients show persistent inflammation, nutritional deficiencies, and other chronic complications over time.
6 citations
,
October 2024 in “npj Digital Medicine” This study observed that patients with COVID-19 had many conditions and phenotypes that increased post-infection, varying by demographics and infection wave, which could enhance understanding and diagnostics of Long-COVID.
August 2025 in “BMC Pregnancy and Childbirth” In this study, prenatal ultrasonography was found to be a valuable tool for screening ectodermal dysplasia during pregnancy, and a new EDA gene variant associated with X-linked hypohidrotic ectodermal dysplasia was identified, aiding in more accurate diagnoses and reproductive decision-making.
124 citations
,
August 1990 in “British Journal of Dermatology” Diffuse alopecia in women may be related to androgens and iron deficiency, and basic hormone and nutrient screening is useful.
75 citations
,
October 2010 in “Mammalian genome” In this study, specific genetic polymorphisms in the KRT71 gene were associated with hairless and curly phenotypes in Sphynx and Devon Rex cats.
29 citations
,
March 2015 in “Clinical Endocrinology” This study found that women with polycystic ovary syndrome in the UK show significant differences in phenotypic and metabolic characteristics based on ethnicity, age, and obesity, influencing management strategies.
7 citations
,
May 2019 in “European Journal of Human Genetics” This study describes three new cases of MCOPS6 with BMP4 variants, noting expanded phenotypic variability but no clinically apparent microphthalmia in these individuals, which is commonly reported in the disorder.
2 citations
,
April 2013 in “Expert Review of Endocrinology & Metabolism” This review discusses the challenges in diagnosing different causes of adult androgen excess and outlines current screening and management strategies but reports no new findings.
1 citations
,
March 2024 in “Türk Kadın Sağlığı ve Neonatoloji Dergisi” This study concluded that among patients with polycystic ovary syndrome at their clinic, the most common phenotype was group A, with lifestyle modification and oral contraceptives being frequently used treatments.
January 2024 in “Wiadomości Lekarskie” In this study, a child's diagnosis of Silver-Russell syndrome was confirmed through phenotype data, genetic testing, and the exclusion of other developmental conditions, revealing a need for a multidisciplinary care approach.
42 citations
,
November 2019 in “Frontiers in Endocrinology” This article provides an overview of diagnosing Cushing's syndrome, emphasizing the importance of assessing clinical signs and the appropriate use of first-line biochemical screening.
28 citations
,
October 2018 in “Clinical Obstetrics and Gynecology” This study suggests that gender-affirming testosterone therapy in transgender men is generally safe and effective with adequate screening and monitoring, although high-quality long-term studies are lacking.
28 citations
,
November 2014 in “Current Diabetes Reports” This review discusses the complex links between polycystic ovary syndrome, insulin resistance, and potential metabolic risks starting in adolescence, noting the need for early screening and treatment but reports no new clinical results.
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.
61 citations
,
September 2016 in “NPG Asia Materials” This study developed thermo-reversible glycol chitosan hydrogels that effectively form and maintain 3D cell spheroids within one day, offering a simplified method for creating biologically realistic cultures for tissue regeneration and drug screening applications.
35 citations
,
August 2010 in “The American journal of pathology” This study reports that hypomorphic alleles of the Ass1 gene in mice resemble human CTLN1, providing a potential model for preclinical studies and indicating that standard treatments for CTLN1 can rescue phenotypes.
32 citations
,
November 2011 in “Reproductive Sciences” The study found that among young Brazilian women, the likelihood of metabolic syndrome in those with PCOS is strongly associated with BMI and the phenotype involving menstrual irregularity and hyperandrogenism.
20 citations
,
May 2013 in “International Journal of Molecular Medicine” This study identified a novel missense MAFB variant in a family with some unaffected members, suggesting incomplete penetrance and the potential influence of modifier genes, epigenetic mechanisms, or environmental factors on MCTO phenotype.