22 citations
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September 2014 in “JAMA dermatology” This study identified major criteria including ectodermal malformations for diagnosing ichthyosis with confetti, and revealed significant genetic variation in the disease locus within the general population.
5 citations
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June 2016 in “Twin research and human genetics” In this study, heritability analyses in twins and siblings revealed that genetic factors predominantly influence hair diameter and curvature, with notable sex differences in their genetic impact.
December 2025 in “GeroScience” This study found that both genetic and epigenetic factors significantly influence age-related facial skin aging, with lifestyle and environmental factors also playing a substantial role.
15 citations
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April 2002 in “British Journal of Dermatology” This study found no strong evidence that the human hairless gene is significantly involved in the development of androgenetic alopecia, though a minor role cannot be completely ruled out.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” This study describes a new method for isolating intact human eccrine glands from scalp follicular units, potentially advancing research on sweat gland physiology.
37 citations
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October 2024 in “JAMA Network Open” This study found that among reproductive-age women across India, there was a high prevalence of PCOS, with phenotype C being predominant and most women exhibiting metabolic abnormalities, highlighting the importance of integrating PCOS management into national health strategies.
37 citations
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August 2019 in “Frontiers in Microbiology” This study found that the S. epidermidis A/C lineage is more pathogenic due to its metabolic and genomic versatility, which allows it to adapt quickly from a commensal to a pathogenic lifestyle.
25 citations
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July 2013 in “Environmental Toxicology and Chemistry” This study found that spironolactone reduced fish fecundity and caused masculinization of females at certain concentrations, while having no effect on Daphnia magna reproduction, underscoring concerns for environmental exposure to vertebrates.
21 citations
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December 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” This study demonstrates that T-cell responses in extensive alopecia areata scalp may be aberrantly regulated, with reduced cytokine production but activated phenotype, providing insight into the disease's immune mechanisms.
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
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May 2023 in “Veterinary Pathology” This article outlines methods to study the skin and its molecular traits, focusing on interpretation and techniques applicable to mouse models, including diverse assays and approaches like electron microscopy and large-scale lipid analyses.
1 citations
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October 2023 in “Journal of personalized medicine” In this study, researchers investigated genetic variants in pharmacogenes affecting tadalafil and finasteride pharmacokinetics, finding fed volunteers had higher drug exposure than fasting individuals, but genetic variation did not significantly impact pharmacokinetics after correcting for multiple comparisons.
August 2026 in “Journal of Genome Biotechnology and Genetics” This review found that while forensic DNA phenotyping and health applications for pigmentation genetics show potential, factors like phenotype definition and population diversity present challenges to accurate genotype-to-appearance predictions.
This study found that in Chinese Alashan Left Banner White Cashmere goats, guard hair length was positively correlated with guard hair diameter and down fiber length, but not with body weight at first combing.
38 citations
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April 2021 in “JAMA Network Open” Higher variability in systolic blood pressure increases long-term mortality risk in coronary artery disease patients.
9 citations
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March 2020 in “Gene” In this study, certain genetic variations in the ESR1 and ESR2 genes were strongly associated with polycystic ovary syndrome and related metabolic issues in Tunisian women.
7 citations
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June 2021 in “Cell Proliferation” This study found that direct interactions between human dermal papilla cells and melanocytes under low oxygen conditions improved cell functions and could be important for hair regeneration efforts.
3 citations
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March 2024 in “Frontiers in Cell and Developmental Biology” This study observed that both prenatal androgen exposure and postnatal early-life environment influence the development of PCOS-like phenotypes and changes in the gut microbiota in prenatally androgenized offspring.
1 citations
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February 2023 in “Journal of Natural Fibers” This study found that Magra sheep with high-luster wool exhibited significantly higher expression of keratin genes, suggesting that increased keratin protein levels may be crucial for wool luster.
93 citations
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February 2015 in “Journal of Investigative Dermatology” This study suggests that oxidative stress may contribute to androgenetic alopecia by inducing premature senescence and secretion of hair growth inhibitors in dermal papilla cells from balding scalp.
7 citations
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January 2016 in “Laboratory Investigation” TR3 is mainly found in hair follicle stem cells and may be involved in hair loss.
3 citations
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January 2016 in “BioMed research international” This study found that calcium microcapsules exhibited better biocompatibility and cell viability than barium microcapsules for scaffolding in artificial dermal papilla, suggesting potential for developing new hair follicle structures.
9 citations
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October 2022 in “Journal of Molecular Neuroscience” This study reports a novel LSS gene mutation in an Egyptian family with alopecia intellectual disability syndrome 4, expanding the known clinical and genetic features of the condition.
1 citations
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November 2017 in “Expert opinion on orphan drugs” This review discusses the genetic basis of ectodermal dysplasia, highlighting that identification of gene pathologies enhances diagnosis and supports prenatal DNA testing, but it reports no new clinical results.
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.
April 2017 in “Journal of Investigative Dermatology” This study observed that a 3D culture model of hair follicle cells showed an anagen-like phase between days 3 to 6 and transitioned to a catagen-like phase by day 7, highlighting cell differentiation and structural development over time.
26 citations
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December 2015 in “Journal of The European Academy of Dermatology and Venereology” This article introduces a new grading system called the FPHL Severity Index to better identify and monitor early stages of female pattern hair loss using clinical criteria.
11 citations
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March 2021 in “Reproductive Biology and Endocrinology” This study found that bloating is the most frequently reported symptom and a main predictor of polycystic ovary syndrome among women using the Flo app across five countries.
In this study, researchers observed that atopic dermatitis may alter the appearance of allergic patch test reactions, demonstrating specific patterns like perifollicular erythema and yellowish areas that could aid in interpreting patch tests using dermoscopy, particularly in ambiguous cases.
6 citations
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March 2019 in “Dermatologic surgery” This study found that storing hair follicle grafts in chilled ATPv-supplemented saline was most effective for preserving trichogenic gene expression, compared to other storage solutions and temperatures.