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.
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.
40 citations
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June 2013 in “Scientific Reports” This study found an association between a splice site variant in the KRT71 gene and curly hair in Selkirk Rex cats, identifying a significant locus on chromosome B4.
30 citations
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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.
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.
11 citations
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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.
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.
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.
98 citations
,
March 2019 in “Frontiers in immunology” This study concluded that heterozygous NFKB2 mutations lead to a distinct and severe form of primary immunodeficiency with early onset, primarily T cell-mediated autoimmunity, and impaired B-cell differentiation.
29 citations
,
January 2021 in “G3 Genes Genomes Genetics” This study identified a 195 bp duplication in crested chickens that causes large crest feathers and can be associated with cerebral hernia in some breeds, but not all.
125 citations
,
August 2003 in “Development” In this study, mice engineered to express human EGFR showed tissue-specific growth defects and neurodegeneration rescue, but developed severe heart issues and accelerated bone cell differentiation.
86 citations
,
June 1998 in “Journal of Investigative Dermatology” This study found that mutations in the hairless gene in mice disrupt hair follicle integrity during catagen, leading to baldness due to disintegrating epithelial structures and loss of normal dermal papilla.
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.
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.
24 citations
,
May 2019 in “PLOS genetics” This study reports that compound heterozygous loss-of-function mutations in the HEPHL1 gene in a child were associated with abnormal hair and cognitive issues, linking altered ferroxidase activity to hair disorders.
9 citations
,
March 1998 in “Journal of Dermatological Science” Improper regulation of hair follicle processes causes hairlessness.
8 citations
,
November 2012 in “Journal of Endocrinological Investigation” This study found that Greek women with classic PCOS phenotypes have a higher risk of metabolic syndrome and impaired glucose homeostasis compared to those with newer PCOS phenotypes.
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.
3 citations
,
March 2024 in “Journal of Dermatological Treatment” Baricitinib can lead to hair regrowth in alopecia areata but may also cause relapses.
2 citations
,
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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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.
1 citations
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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.
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.
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.
September 2026 in “British Journal of Dermatology” This study identified 11 genes associated with non-syndromic hereditary hypotrichosis in a Chinese cohort and proposed a preliminary framework for phenotype-driven candidate-gene prioritization to aid clinical evaluation.
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 2025 in “Journal of Investigative Dermatology” Reduced AhR signaling in HS tunnels leads to persistent inflammation and microbial imbalance.
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.
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.
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.