November 2025 in “Basic and Clinical Andrology” This systematic review and meta-analysis found that male first-degree relatives of women with PCOS have increased rates of metabolic issues, hormonal imbalances, and androgenic features compared to controls, suggesting a male equivalent of PCOS.
November 2025 in “BMC Genomics” This study found that the systemic wrinkled skin phenotype in Xiang pigs involves gene expression changes and genetic variations associated with oxidative stress and extracellular matrix components, resembling features seen in Shar-Pei dogs.
June 2025 in “Albus Scientia” This review discusses the role of the MC1R gene in human pigmentation and its genetic variants, reporting no new results; the authors highlight its forensic applications for phenotypic prediction.
July 2025 in “Journal of Investigative Dermatology” Reduced AhR signaling in HS tunnels leads to persistent inflammation and microbial imbalance.
January 2024 in “Genetics in Medicine Open” This case study of a patient with a variant in the extracellular region of IL6ST suggests a potential expansion of the phenotypic spectrum for autosomal dominant hyper-IgE syndrome, warranting further investigation.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” This study suggests that targeting skin-infiltrated memory phenotype T cells could offer a new therapeutic approach to manage lymphopenia-related diseases like graft-versus-host disease and immune reconstitution inflammatory syndrome.
April 2010 in “The journal of immunology/The Journal of immunology” This study found that deleting the FoxN1 gene in mice disrupted the 3D thymic epithelial structure and led to 2D epithelial cysts, revealing its crucial role in thymus organization but not causing athymia.
42 citations
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July 2017 in “Scientific Reports” This study found that insulin resistance was significantly associated with PCOS among infertile women with central obesity, highlighting differences in insulin and phenotype severity.
20 citations
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November 2003 in “American Journal Of Pathology” Fibroblasts from healthy donors can prevent changes seen in recessive epidermolysis bullosa simplex.
19 citations
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October 2016 in “Journal of oncology pharmacy practice” In this study, the first case of a persistent curly hair phenotype was reported with nivolumab treatment in a patient with metastatic squamous cell lung cancer.
11 citations
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October 2007 in “Journal of Investigative Dermatology” Mutations in the Sgk3 gene cause fuzzy hair in mice.
2 citations
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October 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” This study observed that darker hair is typical in wetter regions for the Indriidae family, while within Propithecus, dark black hair is common in colder forests, suggesting evolutionary adaptations to environmental pressures.
1 citations
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October 2024 in “BMC Infectious Diseases” This study found that post-COVID-19 syndrome incidence varied significantly by gender and identified ALP levels as a potential biomarker for its detection, challenging current diagnostic criteria.
July 2026 in “Journal of Investigative Dermatology” GLP-1 therapies can cause hair loss, but hair often regrows after stopping or reducing the drug.
January 2026 in “International Journal of Dermatology” This review examines the androgen-dependent subtype of acquired progressive kinking of the hair and suggests it may be an early indicator of androgenetic alopecia, emphasizing the importance of distinguishing between subtypes for clinical decisions.
July 2024 in “Journal of Rare Diseases” This review describes the genetic and phenotypic diversity of Woodhouse-Sakati syndrome, highlighting new DCAF17 gene variants and their varying clinical implications.
April 2023 in “Journal of Investigative Dermatology” This study found that using 3D total body imaging with convolution neural networks accurately identifies risk phenotypes for melanoma, suggesting improved objective stratification for early detection and prevention.
December 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, 25% of CCHCR1-deficient mice exposed to stress developed hair loss similar to human alopecia areata, suggesting CCHCR1 is a susceptibility gene for the disease.
April 2014 in “The FASEB Journal” This study found that maternal hephaestin knockout in mice leads to neonatal hair loss, likely due to low iron levels in the mother's milk.
233 citations
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October 2004 in “Differentiation” Stem cells are in deep skin layers, while differentiating cells are in shallow layers.
This study in a nine-year-old boy from Lebanon identified a gene mutation (c.1066dup p.(Arg356Profs*16)) associated with a rare inborn error of immunity, characterized by craniosynostosis, jaundice, and several other symptoms, expanding the known genotypic and phenotypic spectrum of this condition.
35 citations
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April 2008 in “Journal of Biological Chemistry” This study found that the lack of expression and deletion of specific hair keratin genes on chromosome 7q36 in Hirosaki hairless rats suggests the crucial role of these genes in hair growth.
13 citations
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June 2012 in “European journal of medical genetics” In this study, researchers observed monochorionic diamniotic twins with discordant clinical phenotypes, where one had high-grade trisomy 12p mosaicism in certain tissues, while the other showed confined mosaicism likely due to twin-to-twin transfusion.
12 citations
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February 2017 in “International journal of developmental neuroscience” This study observed that reduced in utero exposure to the neurosteroid allopregnanolone increased anxiety-like behavior in female guinea pigs during the juvenile period without affecting long-term allopregnanolone levels.
3 citations
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July 2015 in “International Journal of School Health” This study found that in a sample of female adolescents in Shiraz, the most common PCOS phenotype was hyperandrogenic with polycystic ovary syndrome, warranting further investigation due to associated risks.
In this multicenter study, belimumab effectively reduced disease activity in systemic lupus erythematosus patients with joint and skin manifestations, showing significant improvement in acute and subacute skin types earlier than in chronic types, while no significant benefit was observed for nonspecific skin manifestations.
May 2019 in “bioRxiv (Cold Spring Harbor Laboratory)” This study observed that circulating testosterone affects baseline sex differences in voiding function in C57BL/6J mice, with prostate lobe mass having a lesser impact.
April 2018 in “Journal of Investigative Dermatology” This study found that inhibiting NF-κB Essential Modulator (NEMO) in senescent murine dermal fibroblasts successfully reduced key factors associated with the senescence associated secretory phenotype (SASP), highlighting its potential as a therapeutic target for aging-related diseases.
December 2016 in “University of Birmingham Institutional Research Archive (University of Birmingham)” This study found that manipulating 5αR2 activity in human hepatocytes in vitro can regulate lipogenesis, with potential clinical implications for patients taking 5αR inhibitors.
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.