118 citations
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October 2013 in “Trends in Genetics” The AUTS2 gene is linked to neurological disorders and may affect human brain development and cognition.
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.
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.
33 citations
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June 2007 in “Gene Expression Patterns” This study found that CTIP2 is highly expressed in mouse skin during embryogenesis and adulthood, suggesting it may play a role in skin development and homeostasis.
45 citations
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August 2018 in “Journal of Lipid Research” This study observed that partial autotaxin deficiency in mice protects against diet-induced obesity and systemic insulin resistance, suggesting the ATX-LPA pathway negatively affects skeletal muscle insulin signaling and mitochondrial function during obesity.
January 2012 in “Journal of Northwest A & F University” In this study, the researchers observed that Eda mRNA expression in goat skin peaks during the catagen phase of the hair cycle, suggesting its involvement in hair cycle regulation.
April 2017 in “Journal of Investigative Dermatology” This study identified altered neurological pathways and potential drug targets involved in androgenetic alopecia, suggesting areas for future research and possible therapies.
January 1999 in “American Journal of Medical Genetics Part A” This case report describes a rare occurrence of ectodermal dysplasia features in a 14-year-old with MBTPS1 gene variants, expanding the known spectrum of related disorders.
June 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” This study discovered that the gene Tfap2b identifies a melanocyte stem cell population in zebrafish, essential for regenerating melanocytes with multi-fate potential into adult pigment cells.
January 2025 in “International Journal of Pharmaceutics” In this study, gelatin-coated transferosomes were developed to deliver tofacitinib specifically to hair follicles, resulting in 80% hair regrowth in alopecia areata patients with recalcitrant lesions after 12 weeks of treatment.
28 citations
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September 2002 in “The Journal of Comparative Neurology” This study found that presynaptic inhibition of Aαβ cutaneous primary afferents in cats is mostly mediated by GABAergic interneurons that also contain glycine.
This study observed that activin A and its antagonist follistatin influence the differentiation of inner ear hair cells by regulating the expression of the transcription factor ATOH1.
May 2025 in “Anadolu Kliniği Tıp Bilimleri Dergisi” This study found that in male patients with androgenic alopecia, individuals with certain glutathione S-transferase gene polymorphisms exhibited higher oxidative stress and lower antioxidant capacity, although differences were not statistically significant, and oxidative stress appeared to increase with the progression of alopecia stages.
December 2023 in “Research Square (Research Square)” This study found that IL-4 VNTR intron 3 and TNF-α (rs1799964) gene polymorphisms do not have a significant association with alopecia areata susceptibility in the Egyptian population.
2 citations
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October 2015 in “Human Gene Therapy” The congress highlighted new gene therapy techniques and cell transplantation methods for treating diseases.
3 citations
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March 2020 in “International Journal of Molecular Sciences” This study found that overexpressing the gene Thymosin β4 (Tβ4) can promote the growth and development of secondary hair follicle dermal papilla cells in cashmere goats, suggesting its potential as a target for increasing cashmere production.
December 2025 in “Naunyn-Schmiedeberg s Archives of Pharmacology” In this animal study, AGO (agomelatine) effectively alleviated testosterone-induced benign prostatic hyperplasia in rats by reducing oxidative stress and inflammation, indicating its potential as a therapeutic option for managing BPH through specific signaling pathways.
53 citations
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June 1983 in “Journal of Investigative Dermatology” This study reports that human epidermal transglutaminase activity increases with treatment using organic solvents and chemicals without significant molecular weight changes, which may allow modulation of the enzyme in skin diseases.
3 citations
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April 2021 in “Biomolecules & Therapeutics” In a mouse model of chemotherapy-induced alopecia, this study found that enhancing ETV2 expression improved angiogenesis and hair regrowth following 5-fluorouracil treatment.
6 citations
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January 2014 in “Genetics and Molecular Research” This study constructed a hair follicle-specific expression vector for IGFBP-5 in Inner Mongolia Cashmere goat cells, allowing for future functional genetic analyses and potential use in nuclear transfer.
99 citations
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August 2009 in “Nature Genetics” This study found that combined loss of Atr and p53 in adult mice led to severe tissue degeneration and delayed regeneration due to the accumulation of highly damaged cells.
26 citations
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October 2002 in “Journal of Investigative Dermatology” This study identifies a mutation in the hairless gene that may impact thyroid receptor interaction, contributing to alopecia universalis congenita in an Arab Israeli patient.
6 citations
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November 2019 in “The application of clinical genetics” This study identified a significant genetic association between the TNFα gene and alopecia areata susceptibility in the Jordanian Arab population.
March 2026 in “Journal of Enzyme Inhibition and Medicinal Chemistry” This review examines the development and challenges of using PROTACs, a targeted protein degradation strategy, to treat cancer by degrading specific proteins like PARPs and GPX4, highlighting issues such as target diversification and bioavailability.
January 2025 in “Clinical and Translational Medicine” This research found that exosome-derived long non-coding RNA AC010789.1, modified by FTO and hnRNPA2B1, enhanced human hair follicle stem cell proliferation against androgenic alopecia through the activation of S100A8/Wnt/β-catenin signaling pathways.
March 2011 in “Pigment Cell & Melanoma Research” This study found that changes in the expression of the Agouti gene contribute to the pale pigmentation in beach mice, with implications for melanocyte development and localization.
August 2020 in “Benha Journal of Applied Sciences” This study observed that patients with androgenetic alopecia had significantly higher serum FABP4 levels compared to healthy controls, suggesting FABP4 may be involved in the condition's pathogenesis.
January 2024 in “Wiadomości Lekarskie” This study reports that Abelson Interactor 1 (ABI1) regulates androgen receptor transcription in prostate cancer, identifying it as a potential target for new therapies addressing treatment resistance.
November 2022 in “Journal of Investigative Dermatology” This study found that autologous γdTregs displayed significant protective effects on alopecia areata-affected human scalp hair follicles in both ex vivo and in vivo settings, suggesting potential for future cell-based therapy.
40 citations
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January 2017 in “Intestinal Research” This study found that among Japanese IBD patients, the NUDT15 p.Arg139Cys variant was significantly associated with thiopurine-induced leukopenia and severe hair loss, suggesting its genotyping is important for predicting these adverse events.