32 citations
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November 2020 in “UNC Libraries” This study identified a mutation in the steroid-binding domain of the androgen receptor gene associated with complete androgen insensitivity syndrome, impairing male sexual development due to altered androgen receptor protein function.
January 2026 in “Figshare” This report presents gene set enrichment scores for hair follicle compartments using tape strip and bulk biopsy methods, providing statistical data but no new experimental findings.
This study found that super-enhancers in squamous cell carcinoma stem cells are distinctly different from those in normal skin stem cells, with ETS2 playing a crucial role in promoting tumor growth.
May 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” This study found that tofacitinib may inhibit CD8+ T cell infiltration in alopecia areata by affecting the linoleic acid metabolism-Mg2+ pathway in a sodium sulfide-induced mouse model, highlighting new insights for clinical diagnosis and treatment strategies.
46 citations
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October 2018 in “JCI insight” In this study, the researchers found that treatment with the JAK inhibitor tofacitinib in alopecia areata patients may reduce clonal CD8+ T cell expansions but does not eliminate them entirely, which could contribute to disease relapse.
6 citations
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February 2025 in “Scientific Reports” This study found that MEGA PROTAC improved the prediction of ternary structures with higher maximum DockQ scores compared to the BOTCP method in 16 out of 22 test cases.
1 citations
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October 2025 in “Micromachines” This review highlights the potential of integrating point-of-care testing with allele-specific amplification techniques like AS-PCR, AS-LAMP, and AS-RPA to improve the efficiency, accuracy, and affordability of genotyping single nucleotide polymorphisms associated with human diseases.
June 2026 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that inhibiting the interaction between HOTAIR and EZH2 can block pro-fibrotic gene expression in fibroblasts and interfere with tissue remodeling in systemic sclerosis patient skin.
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.
February 2026 in “British Journal of Dermatology” This study found that while tape-strip RNA sequencing effectively profiles surface-connected epithelial compartments of human hair follicles, deeper follicular programs require traditional biopsies, except in cases of alopecia areata, which enhances the technique's follicular reach in capturing inflammatory signatures.
65 citations
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September 2014 in “Orphanet Journal of Rare Diseases” This study identified mutations in the STUB1 gene linked to hereditary cerebellar ataxia with cognitive impairment, revealing potential effects on protein function and patient symptoms, including accelerated aging.
January 2026 in “Figshare” This table reports gene set enrichment analysis scores for hair follicle compartments across diseases and sampling methods, providing comparisons but no new experimental findings.
688 citations
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June 2007 in “Cell Stem Cell” This study found that deleting the ATR gene in adult mice led to rapid onset of age-related traits such as hair graying and osteoporosis through reduced regenerative capacity.
2 citations
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July 2025 in “Scientific Reports” This study identified a novel Acinetobacter species, strain A1-4-2, with exceptional biodegradation abilities and low antibiotic resistance, found in diverse environments and potentially useful for ecological restoration by degrading organic pollutants.
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 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.
13 citations
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August 2017 in “Scientific reports” This study designed a 66 K SNP chip using solution hybrid selection for cashmere goats, reporting SNP call rates between 95.3% and 99.8% and demonstrating its utility in genomic analyses, suggesting potential application for other species.
January 2007 in “Journal of Southwest University” This study identified that the ND1 gene sequence of the Asian black bear's Sichuan subspecies shares high similarity with those of other bear species, raccoons, and Ailurus fulgens.
January 2026 in “Frontiers in Molecular Biosciences” This study identified a four-gene loop as a non-invasive biomarker that selectively activates in alopecia areata, providing a precise target for JAK inhibitor treatments.
July 2026 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, researchers found that the efflux of calcium in root hairs of Arabidopsis thaliana, particularly through the ER-localized ACA2 and ACA7, is crucial for modulating cytoplasmic calcium signals and enabling proper root hair growth, with disruptions leading to impaired elongation.
July 2026 in “Journal of Investigative Dermatology” Alopecia totalis/universalis involves more intense immune activity and inflammation than patchy alopecia areata.
September 2022 in “European Journal of Dermatology” This study identified a novel pathogenic splice-site variant of the LAMB3 gene in patients with junctional epidermolysis bullosa, highlighting the importance of gene sequencing for diagnosis.
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.
April 2024 in “Institutional Repositories DataBase (IRDB)” This study identified 11 previously unreported ABCA12 variants associated with varying severities of autosomal recessive congenital ichthyoses and expanded the phenotype spectrum of ichthyosis linked to these variants.
5 citations
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August 2023 in “G3 Genes Genomes Genetics” This study developed an improved reference genome for the African spiny mouse using long Nanopore sequencing reads, potentially aiding future research into the species' remarkable tissue regeneration capabilities.
32 citations
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April 2024 in “Nature Biotechnology” 1 citations
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April 2017 in “Journal of Investigative Dermatology” Abatacept may help some people with alopecia areata regrow hair.
12 citations
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July 2004 in “Molecular genetics and genomics” This study identifies a new mutation in the Scd1 gene in a strain of Kunming mice, causing skin and hair defects with the mildest impact among similar mutations.
November 2025 in “Frontiers in Immunology” In this study, researchers found significant links between specific metabolic reprogramming-related genes and alopecia areata risk, highlighting increased SQSTM1 expression in affected hair follicles compared to healthy ones.
3 citations
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February 2025 in “Metabolites” In this study, researchers identified specific Se6OMT enzymes in *S. epigaea* involved in the cepharanthine biosynthetic pathway, providing insights into their substrate promiscuity and essential genetic components for metabolic engineering and synthetic biology applications of cepharanthine production.