November 2025 in “Clinical and Translational Medicine” This study found that cell-free RNA, particularly DNAJB9, shows potential as a biomarker for diagnosing and prognosing female androgenetic alopecia using a machine learning model.
1 citations
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November 2025 in “International Journal of Dermatology” This study developed the Alopecia Areata Children's Quality of Life Index (AAcQLI) to assess quality of life in children with alopecia areata, demonstrating good reliability and validity in initial tests.
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.
March 2023 in “Reactions Weekly”
1 citations
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January 2021 in “Journal of biological chemistry/The Journal of biological chemistry” This study found that loss of the folliculin protein delays transferrin receptor recycling, leading to iron deficiency and suggesting a role in the mechanisms of Birt-Hogg-Dubé syndrome.
5 citations
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January 2015 in “Case reports in medicine” In this case report, a novel missense mutation c.1360G>C (p.Ala454Pro) in the MBTPS2 gene was identified in a boy with typical IFAP syndrome and severe atopic features, although no phenotype/genotype correlation was established.
December 2023 in “Benha Journal of Applied Sciences” This study found that male patients with androgenetic alopecia had higher serum levels of Zinc Alpha 2 Glycoprotein than healthy controls, suggesting its potential role in the disease's pathophysiology.
33 citations
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February 2012 in “British Journal of Dermatology” This study found significant changes in gene expression related to skin structure and signaling pathways in AEC syndrome skin, offering new insights into the syndrome's molecular underpinnings.
2 citations
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July 2025 in “Discover Chemistry.” This study explored the optimization of phytochemicals from Alstonia boonei to develop potential 5-alpha reductase inhibitors for Benign Prostatic Hyperplasia, finding promising analogs with enhanced binding affinity and stability compared to Finasteride, warranting further experimental validation.
December 2022 in “Curēus” This case report describes a 5-year-old girl with atrichia with papular lesions, whose diagnosis was confirmed through genetic testing identifying mutations in the hairless gene.
53 citations
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July 2002 in “Journal of Investigative Dermatology” The Dfl mutation in mice causes poor sebaceous gland function and complete hair loss.
7 citations
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January 2018 in “Neurodegenerative Diseases” This study identified a new clinical variant of adult adrenomyeloneuropathy characterized by hypoplasia and agenesis of the corpus callosum, associated with a novel ABCD1 gene mutation.
January 2026 in “Pattern Recognition” This study found that their newly developed ADRL framework significantly improved the accuracy of scalp tissue layer segmentation in HR-MR images compared to existing methods.
January 2012 in “Faculty of Health; Institute of Health and Biomedical Innovation” This study found six new genetic factors linked to early-onset androgenetic alopecia and its association with increased risk of Parkinson's disease and decreased fertility.
2 citations
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April 2022 in “Genes” This study identifies a polygenic basis for atypical recurrent flank alopecia in Cesky Fousek dogs through genome-wide association analysis and gene expression profiling, highlighting several metabolic pathways involved in the condition.
October 2013 in “Journal of the American College of Cardiology” This study investigates the potential link between atrial fibrillation and circulating aldosterone levels related to cardiac fibrosis in patients with hypertension.
32 citations
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May 2012 in “PloS one” This study found that despite the persistence of aberrant double-negative T-cells, functional immune-competence was maintained after thymic transplantation in a patient with a rare FOXN1 mutation.
December 2023 in “International Journal of Molecular Sciences” In this study, researchers found that young men with androgenic alopecia exhibited significantly higher mRNA levels of 5α-reductase isozymes and changes in prostate cancer-related genes, which could explain varying responses to treatment and guide future therapies.
September 2025 in “Science Advances” This study reports that PADI4, an enzyme involved in posttranslational protein modifications, regulates progenitor cell transitions in hair follicle development by repressing transcription and interacting with translational and ribosomal processes.
May 2025 in “Journal of Investigative Medicine” This study concluded that the Free Androgen Index (FAI) could serve as a reliable biomarker for hyperandrogenism in women with androgenetic alopecia, showing more predictive value than testosterone or SHBG alone.
January 2023 in “Pharmaceutics” In this study, researchers developed a new topical atraric acid formulation, AA-TF#15, which showed a significantly higher drug penetration and increased hair regrowth in mice compared to minoxidil and finasteride treatments, suggesting its potential effectiveness for treating scalp androgenic alopecia.
19 citations
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April 2018 in “Clinical cardiology” This study found that among older men, low levels of free dihydrotestosterone were associated with an increased risk of developing atrial fibrillation.
April 2021 in “Journal of Investigative Dermatology” This study identified a unique transcriptional signature in occipital hair follicles that may protect them from miniaturization in androgenetic alopecia, using an animal-free model to investigate gene roles.
232 citations
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January 2002 in “Mechanisms of development” This study reports that the differential expression patterns of three retinaldehyde dehydrogenases suggest a regulated need for retinoic acid synthesis in various organs during late mouse organogenesis.
47 citations
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April 2000 in “Experimental Dermatology” This study identified a novel missense mutation in the hairless gene in a Polish family, which may contribute to congenital atrichia with papular lesions by affecting the gene's function.
2 citations
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December 2008 in “Journal of Chemical Crystallography” This study reports the crystal structure and geometric parameters of a modified Finasteride derivative, highlighting significant differences in dihedral angles compared to its solvated analog and computational models.
April 2016 in “Journal of Investigative Dermatology” This study found that Pdgfα signaling is crucial for maintaining dermal adipose tissue in mice by initiating dermal adipocyte stem cell proliferation, with implications for age-related skin defects.
October 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that the proprietary aptamer TAGX-0003 significantly inhibited IFNγ-induced effects in pre-clinical human models of alopecia areata, promoting hair regrowth and potentially preventing disease relapse.
This study found that the Arabidopsis thaliana protein Formin 2 localizes to plasmodesmata and is crucial for regulating their permeability by anchoring actin filaments, which affects virus susceptibility.
May 2026 in “ACS Catalysis” In this study, researchers using QM/MM simulations identified key molecular motions and residue interactions in the enzyme SRD5A2 that significantly influence its catalytic efficiency, demonstrating that specific residues play critical roles in stabilizing transition states and reducing activation barriers.