In this study, researchers found two non-synonymous SNPs in the TERT gene associated with mean wool staple strength in sheep, suggesting TERT as a potential candidate gene for improving wool traits.
April 2026 in “Cellular and Molecular Immunology” In a conditional knockout mouse model, this study found that loss of the transcription elongation factor SPT6 in basal keratinocytes led to psoriasis-like skin inflammation and delayed wound healing, suggesting SPT6 plays a crucial role in maintaining epidermal immune quiescence by suppressing proinflammatory NF-κB signaling.
February 2026 in “Orphanet Journal of Rare Diseases” This study identified pathogenic or likely pathogenic gene variants in 70.1% of Russian families affected by hypohidrotic ectodermal dysplasia, expanding knowledge of causative mutations.
January 2026 in “Frontiers in Medicine” This study suggests that coexisting LSS and TSPEAR variants might contribute to a complex phenotype of congenital hypotrichosis and ectodermal abnormalities in a child, and highlights the need for cautious interpretation of genotype-phenotype links and the potential value of broader genetic testing.
December 2025 in “Frontiers in Medicine” This review details the global mutation patterns of genes associated with autosomal recessive woolly hair/hypotrichosis and highlights potential, yet unproven, treatments like minoxidil and regenerative therapies, reporting no new clinical results.
This study identified the FGF5:c.578C>T variant as linked to long hair in Akitas in Japan and suggests that genetic testing could help improve their breeding practices and welfare.
July 2025 in “Clinical Case Reports” In this case report, a 17-year-old male with a specific TRPS1 gene mutation presented with sparse, soft hair, short thumbs and toes, misaligned teeth, and distinctive bone abnormalities in the fingers and toes as observed through X-ray analysis.
May 2025 in “Animal Bioscience” This study found that inhibiting prolactin secretion during the telogen phase can reduce the number of activated secondary hair follicles and the width of hair bulbs.
February 2025 in “Biomolecules” This study found that activation of RORA significantly promotes the level of autophagy in rat hair follicle stem cells, suggesting a potential target for research on hair follicle development and treatments for conditions like alopecia.
September 2024 in “Medicina” This study found that among women with PCOS, the FokI CC genotype of the VDR gene may offer protection against acne and seborrhea, while the VDR-TaqI dominant genotype is associated with reduced oxidative stress.
This study is designed to explore how circadian rhythms are affected by obesity and mental health conditions, such as schizophrenia and bipolar disorder, using biological and lifestyle data from independently living adults.
May 2024 in “Frontiers in medicine” In this study, a 3-year-old Japanese child with autosomal recessive woolly hair was found to have a distinctive irregular and rough cuticle on the hair shaft, along with a homozygous pathogenic LIPH variant, suggesting a critical role for genetic analysis in understanding rare hair conditions.
This study found that expression and variants of the KRT84 gene are associated with important wool traits in Gansu Alpine Fine-wool sheep, suggesting its potential use as a genetic marker for wool trait selection.
February 2024 in “Frontiers in plant science” This study found that Plant Elicitor Peptides enhance root hair growth through a mechanism independent of their known receptors, with PROPEP2 playing a key role in this process by influencing gene expression related to root hair formation.
May 2023 in “Pharmaceuticals” In this in silico study, researchers analyzed nonsynonymous SNPs in the LIPH gene linked to hypotrichosis and identified three potentially harmful variants (W108R, C246S, and H248N) out of 215 total, using sequence- and architecture-based bioinformatics techniques to differentiate between harmful and benign SNPs.
October 2022 in “Medičnì perspektivi” This article discusses two cases of follicular dyskeratosis (Darier-White disease), highlighting its rare occurrence, genetic basis, and the challenges in diagnosis and treatment; it presents no new experimental results.
December 2021 in “Molecular genetics and genomics” This study found that two unrelated domestic shorthair cats had novel DSG4 gene mutations causing defective hair shafts, representing the first report of pathogenic DSG4 variants in domestic animals.
December 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, 25% of CCHCR1-deficient mice exposed to stress developed hair loss similar to human alopecia areata, suggesting CCHCR1 is a susceptibility gene for the disease.
June 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that the HoxC gene cluster is crucial for the development of hair and nails in mice, with key regulation by two mammalian-specific enhancers.
April 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identified a specific genetic variant in the CCHCR1 gene that may contribute to alopecia areata through impaired keratinization, suggesting an alternative mechanism beyond autoimmune causes.
196 citations
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March 2016 in “Nature Communications” In this study, researchers identified 18 genetic associations with scalp and facial hair traits in Latin Americans, including novel loci for hair greying and balding, with implications for understanding hair evolution.
30 citations
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June 2014 in “Seminars in Immunology” This review discusses recent advances in understanding the Eda pathway's role in developmental biology, and highlights ongoing trials and areas for further research, including Eda's potential involvement in cell processes and disease.
3 citations
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April 2022 in “Bioengineering” This review discusses pre-clinical research on ultrasound-mediated sonoporation for tissue regeneration and reports no clinical results; the authors suggest the method is safe and highlight challenges to clinical translation.
June 2024 in “International Journal of Nanomedicine” This review outlines recent progress in CRISPR/Cas9 genome editing, discussing its structure, mechanisms, and the use of genetic, chemical, and physical strategies to enhance precision and reduce off-target effects despite some persistent challenges for clinical application.
30 citations
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January 2024 in “Frontiers in Pharmacology” This study identified common and previously unlisted adverse events associated with four anti-CGRP monoclonal antibodies for migraine prevention, highlighting a varied safety profile post-marketing.
26 citations
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May 2019 in “PLOS ONE” This study observed that hair follicles in hair loss patients had increased levels of Propionibacterium acnes, potentially linked to elevated immune response gene expression in miniaturized hair follicles.
20 citations
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December 2020 in “Frontiers in Immunology” This study found that certain T cell-associated genes were upregulated in dogs with Vogt-Koyanagi-Harada syndrome and vitiligo, suggesting a shared immunopathogenesis with humans.
12 citations
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January 2022 in “Cells” This study found that early passage dermal papilla cell-derived extracellular vesicles, combined with specialized medium, helped adipose-derived stem cells develop dermal papilla-like properties.
7 citations
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January 2024 in “Cancer Research Communications” This study found that TAp63 and ΔNp63 isoforms in the p63 family interact with different transcription factors to regulate distinct transcriptional programs, affecting various biological functions like metabolic pathways, oxidative stress response, and epithelial morphogenesis in mouse epidermal cells.
4 citations
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June 2025 in “Medeniyet Medical Journal” This review explores the role of the TMPRSS2 gene in facilitating SARS-CoV-2 infection and its potential as a therapeutic target in COVID-19 and other respiratory infections, highlighting challenges in developing selective inhibitors.