March 2025 in “European Journal of Medical Genetics” This case report suggests that tofacitinib may effectively manage symptoms of AGS7 in a patient with an IFIH1 mutation, though further studies are needed to confirm its long-term safety and efficacy.
December 2025 in “BMC Medical Genomics” This study demonstrated that RNA-seq can effectively expand hair follicle transcriptomic profiling in a multi-center study, offering deeper insights than blood transcriptomics alone.
6 citations
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March 1996 in “Journal of Investigative Dermatology” March 2026 in “Experimental Dermatology” This study developed an in vitro model using NTERT keratinocytes expressing AEC-related TP63 mutations, which replicated skin defects observed in AEC patients and offers a valuable tool for understanding the disorder and developing new treatments.
4 citations
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January 2011 in “Annals of Dermatology” This article discusses the role of HR gene mutations in differentiating atrichia with papular lesions from alopecia universalis, but presents no new experimental results.
31 citations
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March 2013 in “Gene” This study sequenced and analyzed the goat skin transcriptome, revealing genes involved in signal transduction and cell communication that are differentially expressed during hair growth phases, providing insights for Cashmere goat breeding.
In this study, researchers analyzed over 5,000 T cells per sample using scRNA+TCR-seq technology and found that dual TCR Tregs are present in high proportions across various mouse tissues, showing unique TCR pairing patterns, V(D)J usage, and mRNA expression compared to single TCR Tregs.
51 citations
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December 2006 in “Mammalian Genome” October 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” This study introduces the Hair Cell Analysis Toolbox (HCAT), a machine-learning software that automates the analysis of cochlear hair cells, enabling unbiased and comprehensive imaging data interpretation.
In an outpatient cardiology center, this study found that introducing the AHA/ACC ABI screening protocol significantly increased the frequency of ABI ordering by 31.6% for symptomatic patients.
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.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified intramembrane proteolysis as a key feature of Astrotactin2 maturation, providing insights into its role in planar cell polarity hair patterning.
73 citations
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April 2006 in “BioTechniques” This essay reviews the potential of protein microarrays in proteomics and diagnostics, highlighting no new clinical results but emphasizing the need for advanced high-quality proteins and antibodies.
August 2003 in “Special report” This report introduces Barcelona - TrichoScan as a novel software tool purported to effectively analyze hair growth in patients with androgenetic alopecia or androgenetic effluvium, but it provides no clinical data.
In this study, conditional inactivation of the Mad2l1 SAC gene in mice led to aggressive and lethal acute lymphoblastic leukemia and hepatocellular carcinoma, demonstrating a link between chromosomal instability and cancer development.
August 2020 in “Ugeskrift for Læger” This case report describes a 43-year-old male with alopecia totalis who successfully regrew all his hair after six months of treatment with tofacitinib, with no relapse at one year.
March 2011 in “European Urology Supplements” Blood tests for tumor cells could improve prostate cancer diagnosis and treatment; hair loss severity linked to a gene affecting prostate conditions.
September 2024 in “Journal of the American Academy of Dermatology”
3 citations
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April 2025 in “Nature Communications” This study concluded that the GIANT brain atlas, which integrates genetic and neuroanatomical variations, provides a more accurate representation of brain structure than traditional neuroanatomical atlases, allowing for better exploration of genetic influences on the brain.
March 2026 in “Dermatopathology” This study found that sebaceous gland-derived cutaneous adnexal carcinomas exhibited the highest frequency of genomic alterations compared to other tumor types.
12 citations
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August 2001 in “PubMed” This study found that contrast enhanced phototrichogram (CE-PTG) significantly improved detection of various hair types and growth stages in androgenetic alopecia compared to standard PTG and was comparable to biopsy analysis.
2 citations
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May 2020 in “Journal of the American Academy of Dermatology” Hair shaft changes may be linked to CCCA, but their role is unclear.
This study found that the rs3185480 polymorphism in the APCDD1 gene was associated with an elevated risk of developing androgenic alopecia and reduced protein levels, potentially due to altered codon usage affecting translation efficiency.
32 citations
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February 2018 in “Spectrochimica acta. Part A, Molecular and biomolecular spectroscopy” This study successfully used ATR FT-IR spectroscopy to uniquely identify or differentiate human hairs by detecting specific spectral features associated with individual hair characteristics and cosmetic residues on hair surfaces.
February 2026 in “Chemical Engineering Journal” This study found that a novel nano-engineered platform, PCA, significantly promoted hair regeneration in an androgenetic alopecia mouse model by enhancing angiogenesis and hair follicle stem cell proliferation, showing promise for future hair regrowth treatments.
This study suggests that the ANE syndrome mutation in yeast Nop4, analogous to human RBM28, disrupts protein folding and protein-protein interactions, contributing to ribosomal dysfunction.
Defective protein folding due to a mutation is key in ANE syndrome.
8 citations
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January 2015 in “Genetics and Molecular Research” This study found that specific SNPs in the CXCL1 and CXCL2 genes may be associated with increased susceptibility to alopecia areata in the Korean population.
July 2024 in “Journal of Investigative Dermatology” JAK inhibitors improve hair growth in alopecia areata, especially in patchy types.
January 2013 in “Heilongjiang xumu shouyi” This study successfully cloned the KAP6.1 gene from Xinjiang fine-wool sheep and found its genetic sequence has high homology with sheep and goat sequences, indicating close genetic relationships.