April 2018 in “Journal of Investigative Dermatology” This study used single-cell RNA sequencing to identify at least nine subpopulations of keratinocytes in human neonatal epidermis, revealing unexpected heterogeneity and complex differentiation trajectories.
September 2025 in “Frontiers in Genetics” This study developed a non-invasive, partially automated protocol for extracting high-quality DNA from hair follicles of marmosets, significantly reducing chimerism rates compared to blood, and proving reliable for whole genome sequencing in low-input DNA scenarios.
4 citations
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July 2023 in “Analytical and Bioanalytical Chemistry”
December 2024 in “Kırıkkale Üniversitesi Tıp Fakültesi Dergisi” This study found that chromosomal microarray analysis identified copy number variations in 12% of patients with dysmorphic features and congenital anomalies, demonstrating its potential as a diagnostic tool, especially for rare CNVs and immune deficiency linked to the deletion of CTLA4.
December 2024 in “Turkish Journal of Forensic Medicine” This review examines the role and significance of next-generation sequencing technologies in forensic identification and other forensic applications, but reports no new findings.
April 2026 in “Human Genome Variation” This study identified a specific hemizygous intronic variant in the MBTPS2 gene associated with IFAP syndrome in a patient, revealing exon skipping and reduced normal transcript expression through long-read RNA sequencing.
38 citations
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October 2011 in “Analytical biochemistry” This study used proteomic techniques to analyze human hair proteins, revealing keratin heterogeneity and identifying posttranslational modifications, such as cysteine trioxidation and methylation.
1 citations
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March 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” This study examined wool traits in Angora rabbits using low-coverage whole genome sequencing, identifying six QTLs and a gene, FGF10, linked to fiber growth and diameter, suggesting a cost-effective approach for complex trait analysis in genomic breeding.
2 citations
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May 2021 in “Journal of pharmaceutical and biomedical analysis” This study utilized a UHPLC-HRMS method to identify eight active pharmaceutical ingredients, such as ketoconazole and minoxidil, in 26 out of 100 analyzed cosmetic products.
November 2023 in “Journal of Investigative Dermatology” This study used advanced single-cell RNA and chromatin sequencing to investigate differences in peripheral blood cells between mild and severe alopecia areata patients, uncovering shared transcription factor motifs that may explain disease severity and open avenues for future research on therapeutic targets.
August 2024 in “STAR Protocols” This study details a step-by-step protocol for preparing mammalian skin samples, including hair follicles, for spatial transcriptomics to overcome challenges inherent in applying this technique to the skin.
December 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This research examined the transcriptional landscape of quiescent melanocyte stem cells (qMcSCs) in adult female mice, revealing significant heterogeneity within this cell population and identifying novel subpopulations that vary in immune privilege regulation, melanocyte differentiation potential, and neural crest potential.
May 1995 in “Journal of Investigative Dermatology” Researchers developed a new way to measure gene activity in single hair follicles and found that a specific gene's activity changes with different amounts and times of treatment.
4 citations
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February 2018 in “EMBO reports” This discussion highlights the potential of next-generation sequencing in forensic science for predicting phenotypic traits from DNA samples, but reports no new clinical results and underscores ongoing ethical and legal challenges.
14 citations
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September 2019 in “Forensic Science International Genetics” This study found that hair shaft keratin proteins can be reliably identified from samples as small as 0.12 cm, suggesting their potential forensic utility with typical casework sample sizes.
April 2026 in “Zenodo (CERN European Organization for Nuclear Research)” In this study, researchers conducted an exploratory re-analysis of miRNA dysregulation and aging-related target enrichment using publicly available data on female pattern hair loss, comparing 3 FPHL scalp samples to 5 healthy female controls, and emphasized that the findings are preliminary and require further validation.
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.
September 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that hair follicles and urine cell pellets from noninvasive samples may be the most promising for transcriptomic analyses due to their consistent quality and applicability to disease-relevant research.
April 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” This study successfully isolated inner ear-specific exosomes from perilymph samples of sensorineural hearing loss patients using a novel immunomagnetic approach, enabling groundbreaking liquid biopsy diagnostics.
February 2023 in “Default Digital Object Group” This study demonstrated that a single multimode fiber can be used for single-shot wide-field reflectance imaging, achieving high correlation with the ground truth and enabling real-time microendoscopy at up to 180 frames per second.
April 2017 in “Journal of Investigative Dermatology” This study reports a new optimized protocol for isolating and labeling single cells from neonatal mouse skin, enabling high-quality single cell RNA sequencing for lineage-specific cell analysis.
May 2015 in “Journal of Dermatological Science” Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.
2 citations
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April 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that skin surface lipids contain measurable mRNAs, providing a non-invasive way to study skin diseases, with specific gene expression changes observed in atopic dermatitis patients.
January 2019 in “Florida International University Digital Commons (Florida International University)” This research describes using advanced mass spectrometry imaging techniques to analyze gunshot residue and map molecular components in biological samples, such as tumors and mosquito ovarian follicles, at unprecedented spatial resolution and specificity.
The researchers reported that certain physical characteristics of hair shafts, such as length and color, may influence mtDNA read counts and degradation state when analyzed by massively parallel sequencing.
This chapter highlights various commercial and open-source light sheet microscopy systems, detailing their rapid evolution and integration of multimodal technologies, with a focus on the ZEISS Lightsheet Z.1 system's advanced design for direct imaging and specialized sample mounting.
June 2026 in “arXiv (Cornell University)” This study proposes a new test for genome-wide association studies that incorporates Hardy-Weinberg equilibrium into SNP analysis, demonstrating improved power and interpretability over traditional methods, as evidenced by simulations and an alopecia study dataset.
24 citations
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June 2012 in “BMC Research Notes” This study outlines the Human Gene Correlation Analysis tool, which classifies human genes by coexpression levels and identifies overrepresented annotation terms in correlated gene groups, with no new clinical results reported.