15 citations
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June 2012 in “British Journal of Dermatology” This study identified a novel KRT86 mutation associated with autosomal dominant monilethrix, expanding understanding of its genetic basis beyond known motifs.
3 citations
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January 2022 in “Journal of Infection” This article discusses intra-host single-nucleotide variants in SARS-CoV-2, highlighting their potential to inform on virus strain diversity, immune escape, and drug design, but it reports no new clinical results.
17 citations
,
September 2019 in “Journal of Cell Biology” This study found that despite carrying an activating Hras mutation, hair follicle stem cells integrate into normal skin without causing tumors, unlike similar mutations in the epidermis, suggesting unique tumor-suppressing mechanisms in hair follicles.
17 citations
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February 2015 in “Cell Death and Disease” This study found that inhibiting AP1 transcription factor activity in the suprabasal epidermis of mice alters keratinocyte gene expression, reducing barrier integrity and mimicking human keratoderma.
1 citations
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October 2013 in “Our Dermatology Online” This study found that individuals in this Egyptian cohort carrying the leucine (L) allele of the 5-α reductase type II enzyme had a higher risk of developing androgenetic alopecia, which may be associated with oxidative stress.
25 citations
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February 2019 in “Genomics” This study reports that milk goats exhibit significantly more differentially expressed genes related to hair follicle cycling across different months compared to cashmere goats, especially in December.
19 citations
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September 2019 in “EMBO molecular medicine” This study found that deletion of c-Jun and JunB in mouse bulge hair follicle stem cells was sufficient to trigger psoriasis-like skin disease through thymic stromal lymphopoietin signaling.
2 citations
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March 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study suggests that maternal hyperandrogenism and insulin resistance may induce ferroptosis in the gravid uterus and placenta in rats, but through distinct molecular mechanisms.
1 citations
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January 2009 in “Trepo - Institutional Repository of Tampere University” This study found that vitamin D regulates cholesterol metabolism and may influence prostate cancer development through mechanisms affecting prostate cell growth and sex hormone metabolism.
July 2025 in “Scientific Reports” In this study, researchers identified six novel prognostic biomarkers for bladder cancer and developed a predictive model that effectively stratifies patients into high-risk and low-risk groups based on immune cell infiltration differences and gene expression.
April 2025 in “International Journal of General Medicine” This study found that among COVID-19 patients, a higher presence of the G allele in the IFITM3 rs12252 polymorphism correlates with increased inflammatory markers and disease severity, noting higher ESR, CRP, Fibrinogen, LDH, and D-dimer levels in severe cases compared to mild ones.
August 2024 in “Journal of Animal Science and Technology” This study identified specific keratin-associated protein genes that are highly expressed in different varieties and sexes of Angora goats, providing insights for improving mohair development through targeted breeding strategies.
January 2023 in “Kafkas üniversitesi veteriner fakültesi dergisi/Kafkas üniversitesi veteriner fakültesi dergisi” In this study of Angora goats, researchers found that HOXC13 and other genes were overexpressed during the active hair growth phase, suggesting a role in mohair structure.
January 2015 in “Durham e-Theses (Durham University)” This study found that glucose starvation and hypoxia are physiological triggers of ER stress in in vitro differentiated adipocytes, rather than high concentrations of saturated fatty acids, cholesterol, or proinflammatory cytokines.
This study found considerable variation in hair shaft proteomic profiles among Caucasian, African-American, Kenyan, and Korean subjects, with individual and site-specific differences observed.
This study used proteomic profiling to reveal significant individual and site-specific differences in human hair shaft proteins, which may improve the differentiation of hair based on ethnic origin and individual identity.
24 citations
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January 2015 in “Annals of Dermatology” In this study, herbal extracts commonly used in traditional medicine were observed to significantly increase the proliferation of human dermal papilla cells, suggesting potential as alternative therapies for enhancing hair growth.
1 citations
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October 2014 in “Skin Pharmacology and Physiology” This study found that osteopontin expression was significantly higher in alopecia areata lesions compared to healthy controls, suggesting it may play a role in the disease's pathogenesis.
9 citations
,
September 2019 in “PLoS ONE” This study demonstrated that keratin K124 is specific to equine hoof lamellar tissue and established monoclonal antibodies that can specifically recognize K124 without cross-reacting with other tissues.
6 citations
,
June 2012 in “PloS one” This study identified a novel SCF mRNA splice variant in white merino sheep skin, which may play a role in hair follicle melanogenesis.
91 citations
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December 2000 in “The journal of cell biology/The Journal of cell biology” This study reports that expressed mouse type Ia and type IIa trichocyte keratins were successfully assembled into intermediate filaments in vitro, while also suggesting that disulfide bond cross linking enhances their stability.
68 citations
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August 2014 in “PeerJ” This study found that proteomic analysis can distinguish hair samples across different ethnicities and body regions based on keratin protein levels, which may aid forensic hair identification.
7 citations
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March 2022 in “Frontiers in Genetics” This study identified genetic loci and pathways associated with long hair growth in the Tianzhu white yak, providing new insights into the genetic mechanisms of this trait.
In this study, researchers used transcriptome sequencing to identify 1543 differentially expressed genes between cashmere and normal goats, implicating several signaling pathways and key regulators in the distinct gene expression profiles linked to cashmere fiber production, which advances understanding of cashmere goat genetics.
November 2025 in “Frontiers in Pharmacology” In this study, XZYFD, a Traditional Chinese Medicine formulation, was found to improve androgenetic alopecia in a testosterone-induced mouse model by promoting hair regrowth, restoring follicular morphology, and modulating androgen metabolism, MAPK signaling, and lipid metabolism pathways, suggesting potential benefits for patients with metabolic dysfunction.
October 2025 in “Animals” This study explored the genetic regulation of goose feather follicle development, identifying miR-200a as a key regulator that inhibits GEDF proliferation through the Wnt pathway, potentially impacting goose down quality and supporting selective breeding strategies.
October 2007 in “Clinical Biochemistry” This study identified a new genotype, V281+I172N/V281L, linked to non-classical 21-hydroxylase deficiency, suggesting it should be considered in genetic panels for the condition.
April 2026 in “Human Genome Variation” In this study, researchers identified a recurrent MBTPS2 splice-site variant as a mutational hotspot in IFAP syndrome across diverse families, with phenotype severity suggesting the influence of additional modifiers.
71 citations
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February 2012 in “The American Journal of Human Genetics” This study found that a heterozygous missense mutation in ATR is associated with a hereditary cancer syndrome, manifested by oropharyngeal cancer and other anomalies, in an autosomal-dominant inheritance pattern across a five-generation family.
39 citations
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September 2018 in “American Journal of Medical Genetics Part A” This case report describes a 32-month-old girl with a newly identified pediatric disorder linked to a de novo mutation in the ODC1 gene, mirroring symptoms seen in a transgenic mouse model.