86 citations
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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.
13 citations
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August 2024 in “iScience” This study found that 3D spheroid culture reprogrammed mesenchymal stem cells into a uniform immunosuppressive phenotype, suggesting potential therapeutic applications for inflammatory diseases like psoriasis.
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.
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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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.
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.
June 2026 in “International Journal of Medical Science and Dental Health” In this study, researchers found that women with Type 2 Diabetes Mellitus and hair loss had significantly lower levels of ferritin, zinc, and vitamin D compared to men, and constructed a validated risk score to predict severe nutrient deficiencies in these patients.
7 citations
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March 1993 in “International Journal of Oncology” This study found that the keratin expression in basal cell carcinoma resembles that of the pilosebaceous apparatus, with uniform presence of certain keratins in all cases.
69 citations
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January 2005 in “The Journals of Gerontology Series A” This study suggests that short telomeres may produce similar aging-related symptoms across different segmental progeroid syndromes, offering potential insights into normative aging processes.
98 citations
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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.
47 citations
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July 1998 in “Journal of Investigative Dermatology” A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.
35 citations
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April 2014 in “American Journal of Medical Genetics” The study reported a significant genotype–phenotype correlation in prepubescent males with XLHED, particularly in the severity of skin and hair manifestations between those with different EDA mutations.
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.
15 citations
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February 2014 in “PloS one” This study identified two prevalent and one newly proposed founder LIPH mutations in Japanese patients with autosomal recessive woolly hair/hypotrichosis and associated these mutations with different severities of hair loss.
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.
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.
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 “Molecular Genetics & Genomic Medicine” This study found that among children with 21-hydroxylase deficiency, there is a strong correlation between severe genetic variants and clinical outcomes, but the correlation weakens with milder variants, indicating the limitations of relying solely on NGS for diagnosis.
October 2018 in “InTech eBooks” This research suggests that mouse mutants and genomics can help study hair biology and epithelial differentiation by focusing on the role of the Foxn1 gene.
July 2026 in “Journal of Investigative Dermatology” GLP-1 therapies can cause hair loss, but hair often regrows after stopping or reducing the drug.
April 2019 in “Journal of the Endocrine Society” This study found that androgen-regulated genes in hidradenitis suppurativa skin lesions are strongly linked to innate immunity pathways, indicating a potential connection between androgen signaling and inflammation in this condition.
162 citations
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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.
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.
21 citations
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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.
16 citations
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April 2018 in “Animal Genetics” This study identified two significant genomic regions potentially involved in hair development and growth in Casertana pigs, highlighting FOXN3 and ARHGEF10 as candidate genes associated with a hairless phenotype.
7 citations
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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
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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.
120 citations
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June 2008 in “American Journal of Epidemiology” This study reported a 6.3% prevalence of PCOS among women in a Sri Lankan community, with most cases presenting as oligo/amenorrhea and polycystic ovaries.
78 citations
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August 1996 in “The Journal of Clinical Endocrinology & Metabolism” This study reports that the same androgen receptor gene mutation within a family can lead to both complete and partial androgen insensitivity syndromes, suggesting that genetic defects alone may not predict clinical phenotype.
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.