4 citations
,
March 2021 in “International Journal of Environmental Research and Public Health” This study found that women with polycystic ovary syndrome have higher body mass index, fat mass percentage, and skinfold thickness compared to women without PCOS.
1 citations
,
January 2022 in “IntechOpen eBooks” This study suggests that while PCOS phenotype does not affect oocyte quality, a combination of hyperandrogenism and chronic anovulation negatively impacts cumulative pregnancy rates in assisted reproduction.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, Mpzl3-/- mice developed severe seborrhea-like dermatitis with skin inflammation, indicating MPZL3's role in the skin condition's development, independent of adaptive immunity.
75 citations
,
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.
50 citations
,
February 2004 in “Genomics” This study identified a missense mutation in the rat Desmoglein 4 gene, causing abnormal hair shaft development in lanceolate hair mutant rats by disrupting a critical calcium binding site.
49 citations
,
January 2006 in “Developmental Dynamics” This research observed that the skeletal abnormalities in Noggin null mice varied based on genetic background, and identified haploinsufficiency leading to joint fusions, similar to human conditions associated with NOGGIN deficiency.
30 citations
,
January 2021 in “Journal of Clinical Immunology” This study describes various clinical phenotypes associated with FOXN1 mutations, finding that affected individuals may develop different severities of immunodeficiency based on their genetic mutations.
11 citations
,
October 2007 in “Journal of Investigative Dermatology” Mutations in the Sgk3 gene cause fuzzy hair in mice.
8 citations
,
December 2020 in “Scientific reports” This study examined the genetic basis for the curly hair trait in Mangalitza pigs, finding two specific genetic variants that contribute to this distinctive phenotype through autosomal dominant inheritance.
7 citations
,
June 2021 in “Trends in Food Science and Technology” This commentary reviews potential dietary and mineral influences on androgenetic alopecia and suggests considering a diet low in cholesterol and glycaemic index with improved glucose control and magnesium fortification, without new clinical results.
1 citations
,
December 2022 in “Biomolecules & therapeutics” This study found that a long-term astrocyte culture model can effectively study astrocyte senescence and suggests minoxidil as a potential candidate to regulate brain aging by normalizing dysregulated gene expression in aged astrocytes.
July 2017 in “Biology bulletin/Biology bulletin of the Russian Academy of Sciences” This study found that cultivating dermal papilla cells in spheroids or with valproic acid most effectively preserves their phenotype in vitro, compared to a monolayer culture with BMP6 and vitamin D3, which only produces a short-term effect.
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.
47 citations
,
July 1998 in “Journal of Investigative Dermatology” A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.
21 citations
,
November 2010 in “Journal of molecular medicine” This study found that deleting FoxN1 in specific thymic epithelial cells disrupted the 3D thymic structure and led to age-dependent formation of 2D epithelial cysts, highlighting FoxN1's critical role in thymic morphogenesis.
11 citations
,
September 2021 in “American Journal of Medical Genetics Part A” This study reports that newly diagnosed patients with Bachmann-Bupp syndrome exhibit a broader phenotype than previously documented, including late-onset seizures, and suggests a possible universal biochemical mechanism involving elevated ODC activity.
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.
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.
July 2025 in “Journal of Investigative Dermatology” Reduced AhR signaling in HS tunnels leads to persistent inflammation and microbial imbalance.
233 citations
,
October 2004 in “Differentiation” Stem cells are in deep skin layers, while differentiating cells are in shallow layers.
162 citations
,
January 2015 in “Trends in Endocrinology and Metabolism” This review discusses how women with PCOS have an increased risk of insulin resistance and cardiometabolic features regardless of body fat, and calls for targeted prevention and management strategies.
62 citations
,
April 2013 in “Steroids” This review discusses the age-related diagnostic challenges and comorbidities of polycystic ovarian syndrome and provides no new clinical findings; the authors emphasize the role of obesity in insulin resistance among affected women.
42 citations
,
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.
41 citations
,
July 1994 in “Journal of Dermatological Science” This review examines the differentiation potential of epithelial cells from various sources in hair follicle formation, concluding that complex interactions are required for hair-specific characteristics, which were achieved in vivo but not in vitro.
35 citations
,
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.
31 citations
,
January 2014 in “Clinical Endocrinology” This study found no significant differences in metabolic characteristics between different phenotypes of PCOS or between women with PCOS and healthy controls among reproductive-aged Iranian women.
20 citations
,
November 2003 in “American Journal Of Pathology” Fibroblasts from healthy donors can prevent changes seen in recessive epidermolysis bullosa simplex.
19 citations
,
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.
3 citations
,
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.
1 citations
,
July 2025 in “BMC Medicine” The authors concluded that establishing and standardizing methods for data collection are crucial to improving PCOS diagnosis and research due to challenges observed in data harmonization across diverse international cohorts.