February 2023 in “International Journal of Molecular Sciences” This study found that exosomes derived from dermal papilla cells can enhance the proliferation of hair follicle stem cells by stimulating the LEF1 pathway, offering insights into hair follicle growth regulation.
89 citations
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April 2023 in “Forensic Science International Genetics” This review summarizes advancements in forensic DNA phenotyping for appearance, ancestry, and age prediction from crime scene samples, reporting no new research findings but highlighting areas needing further research and validation.
8 citations
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March 2023 in “British Journal of Dermatology” This review highlights the significant role of next-generation sequencing in uncovering the genetic basis of hair disorders, identifying 28 nonsyndromic conditions linked to specific genes.
January 2026 in “International Journal of Molecular Sciences” This study found that eyebrow follicles, as opposed to buccal swabs or nails, are the most reliable tissue for post-HSCT germline genetic testing due to lower donor DNA contamination.
1 citations
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November 2024 in “Diabetes Metabolic Syndrome and Obesity” In this study, researchers found that a specific genetic variant in the INSR gene is linked to severe insulin resistance and hyperandrogenemia in type A insulin resistance syndrome, suggesting the benefit of exon sequencing for accurate diagnosis and treatment.
June 2025 in “Journal of Endocrinological Investigation” This review identifies and discusses various endocrine-related causes of hypertension in children and adolescents, emphasizing the role of genetic predispositions and highlighting the need for systematic diagnostic guidelines and genetic sequencing referrals to improve diagnosis and treatment strategies.
April 2023 in “Medizinische Genetik” This review summarizes recent genetic findings in alopecia areata research and their implications for developing new treatments, without reporting new clinical results.
11 citations
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March 2020 in “American Journal of Medical Genetics Part A” This study identified a novel homozygous EDNRA variant linked to Oro-Oto-Cardiac Syndrome and showed that EDNRA signaling is essential for normal craniofacial and cardiovascular development.
August 2025 in “BMC Pregnancy and Childbirth” In this study, prenatal ultrasonography was found to be a valuable tool for screening ectodermal dysplasia during pregnancy, and a new EDA gene variant associated with X-linked hypohidrotic ectodermal dysplasia was identified, aiding in more accurate diagnoses and reproductive decision-making.
March 2024 in “Research Square (Research Square)” This study found that a combined genotypic and phenotypic reanalysis increased molecular diagnostic accuracy from 9% to 26% in a cohort of unresolved monogenic diabetes cases, identifying five previously overlooked genetic defects.
1 citations
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March 2023 in “PloS one” In this study, researchers identified key mRNA and microRNA regulatory mechanisms that influence cashmere growth in cashmere goats under different photoperiods, potentially offering new methods to enhance cashmere production.
106 citations
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November 2014 in “Cell Stem Cell” This review discusses advanced techniques for investigating stem cell fate at the single-cell level, including lineage tracing, time-lapse imaging, and molecular profiling, but reports no new research results.
23 citations
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December 2017 in “Scientific Reports” This study found that the ARL15 gene affects adipocyte differentiation and adiponectin secretion, and suggests that ARL15 haploinsufficiency may predispose individuals to lipodystrophy.
January 2026 in “Scientific Reports” In this study, researchers identified 19 genetic risk loci and highlighted 16 candidate causal genes, including immune-related ones, associated with polycystic ovary syndrome, emphasizing the role of specific immune cells like T cells and NK cells in its pathogenesis.
2 citations
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July 2015 in “Archives of Dermatological Research” This study reports the first familial case of alopecia linked to a novel homozygous variant in the DSP gene, which did not coincide with heart abnormalities despite prior associations.
June 2024 in “Computational and Structural Biotechnology Journal” This review discusses the integration of omics analyses in androgenetic alopecia research, reporting no new clinical results but suggesting that collaborative multi-omics studies may enhance understanding of AGA's pathomechanisms.
1 citations
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October 2025 in “BMC Genomics” This study found that both natural and environmental selection have significantly influenced the goat genome, revealing genetic loci tied to adaptation, fitness, and productive traits, more so than artificial selection, across various goat populations.
November 2025 in “Journal of Investigative Dermatology” This study identified nine pathogenic variants in the PADI3 gene and variants in the S100A3 and TCHH genes in patients with central centrifugal cicatricial alopecia, suggesting a broader genetic basis for the disease and potential targets for genetic testing and therapies.
30 citations
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November 2019 in “Genetics selection evolution” This study found that in Chinese goat breeds, specific genetic variations, particularly in Tibetan Cashmere goats, are associated with traits like hair growth and adaptation to high-altitude environments.
1 citations
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February 2025 in “Medicina” This study examined genetic risk factors for alopecia areata in the Jordanian population but found no significant association between the 21 targeted risk loci and the condition, emphasizing variability in genetic predisposition across ethnic groups and potential non-genetic triggers.
April 2023 in “Medizinische Genetik” New gene discoveries have improved diagnosis and treatment for skin and hair disorders, but more research is needed to fully understand them.
246 citations
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February 2021 in “Trends in Pharmacological Sciences” This review discusses drug repurposing strategies for rare diseases, highlighting methodologies, achievements, and challenges, but reports no new clinical results.
8 citations
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May 2025 in “Biomolecules” This review highlights the evolution of forensic genetics from basic DNA analysis to complex genome-wide studies, enabling insights into personal traits, ancestry, and habits, and suggests future advancements through technologies like CRISPR and AI.
4 citations
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February 2023 in “iScience” This study found that unique genomic regions in Korean long-tailed chickens may contribute to their long tail feathers, offering potential for genetic advancements in ornamental chicken breeding.
15 citations
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April 2017 in “Hormones” This review discusses the roles of glucocorticoids and glucocorticoid receptors, and it explores potential genetic and non-genetic causes of glucocorticoid resistance or hypersensitivity syndromes, reporting no new clinical results.
15 citations
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April 2016 in “Hormones” This review summarizes the clinical features and molecular causes of Primary Generalized Glucocorticoid Resistance, highlighting new findings from the characterization of mutations in the NR3C1 gene, but reports no new experimental results.
8 citations
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June 2016 in “Journal of Investigative Dermatology” A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.
This study found that integrating machine learning enhances the predictive accuracy of forensic DNA phenotyping from low template DNA, achieving high accuracy for traits like eye color, although challenges remain for admixed populations and complex traits.
November 2025 in “American Journal of Case Reports” This case report describes a child with acrodermatitis enteropathica and normal zinc levels who developed Kaposi's varicelliform eruption, highlighting the role of novel SLC39A4 variants and the importance of early zinc supplementation and antiviral prophylaxis.
1 citations
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September 2017 This study found that the combination of Stemoxydine® and Resveratrol improved hair density in women with Female Pattern Hair Loss.