This study found that individuals with homozygous loss-of-function mutations in PLAAT3 experience a novel type of partial lipodystrophy linked to defects in white adipose tissue differentiation and function.
26 citations
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May 2024 in “Molecular Neurodegeneration” This review assesses existing knowledge about the 17q21.31 inversion polymorphism, highlighting its genetic structure differences across ancestries, associations with various diseases, and implications for precision medicine and drug discovery.
1 citations
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May 2023 in “Frontiers in endocrinology” The researchers reported that the novel MBTPS2 variant p.Glu172Asp found in a male proband is likely pathogenic, consistent with osteogenesis imperfecta symptoms and molecular signatures, including disrupted fatty acid metabolism and collagen production.
January 2025 in “Cellular and Molecular Biology” This study found that in Liaoning cashmere goats, overexpression of the PIP5K1A gene enhances skin fibroblast proliferation, while interference with this gene reverses melatonin-induced proliferation, and PIP5K1A regulates certain miRNA expressions, suggesting a role in improving cashmere yield and quality.
124 citations
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November 2000 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that human peptidylarginine deiminase type III is the predominant isoform in hair follicles and may modulate structural proteins during hair and hair follicle formation.
9 citations
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August 2023 in “Molecules” This study found that the peptides RMYYY and VMYMI displayed stronger binding energy and more frequent interactions with HPGDS compared to the native inhibitor, suggesting potential as future therapeutic drugs.
April 1996 in “Journal of Dermatological Science” 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.
November 2022 in “Munich Personal RePEc Archive (Ludwig Maximilian University of Munich)” In this study, the pi4kβ1β2 double mutant in Arabidopsis thaliana exhibited altered root growth, increased susceptibility to Blumeria graminis, and a potential correlation between PI4K activity and auxin response and immunity due to changes in vesicular trafficking and actin filaments.
March 2016 in “European Urology Supplements” This study identified that methylation of the 5-AR2 gene promoter is linked to reduced expression of 5-AR2 protein, which may explain why some BPH patients are resistant to finasteride treatment.
37 citations
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August 2014 in “Journal of experimental botany” This study identified the AtPRPL1 gene in Arabidopsis thaliana as being involved in cell elongation processes, despite unclear changes in cell wall composition from its altered expression.
July 2024 in “Journal of Investigative Dermatology” PH-762 shows promise in treating skin cancer by effectively targeting and silencing PD-1 in tumors with minimal side effects.
January 2026 in “Journal of Community Medicine and Health Solutions” In this study, the novel topical agent PP405 showed favorable tolerability and increased hair density by over 20% in men with advanced androgenetic alopecia after eight weeks, suggesting a promising potential treatment pending further trials.
July 2012 in “European journal of cancer” This study demonstrated that switching aE-catenin to aT-catenin in murine skin substantially rescued hyperproliferative and pre-cancerous conditions, but led to partial baldness, indicating potential functional discrepancies.
4 citations
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December 2013 in “The Journal of Dermatology” This letter to the editor discusses a case of delayed-onset pachyonychia congenita linked to a new mutation in keratin 6b but presents no new research findings.
January 2010 in “Acta Universitatis Medicinalis Nanjing” This study found that progesterone increased the survival of newborn neurons and enhanced spatial learning and memory in adult male mice, independent of neuron production changes.
37 citations
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April 2010 in “FEBS Letters” In this study, researchers reported that the activation of EDA2R by p53 leads to p53-dependent cell death in cancer cells and is involved in chemotherapy-induced hair loss.
51 citations
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September 2000 in “Acta dermato-venereologica” This study found that PPAR alpha, -delta, and -gamma are expressed in human hair follicle cells, and clofibrate exhibited a beneficial effect on hair follicle survival in culture within a specific concentration range.
26 citations
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January 1992 in “Carcinogenesis” This study suggests that chronic treatment with TPA in mouse skin selectively expands a keratinocyte subpopulation hyperinducible for ODC, which may be a key target for neoplastic transformation.
2 citations
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July 2004 in “Cell Biology International” This study found that urokinase plasminogen activator (uPA) is elevated in hyperproliferative hair follicle keratinocytes in mice, and its inhibition significantly reduces their proliferation.
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.
May 2017 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that the peach gene CTG134, involved in auxin-ethylene interactions, plays a role in hormonal regulation during root hair formation in Arabidopsis and tobacco.
May 2010 in “Europe PMC (PubMed Central)” This chapter discusses the synthesis and analysis of near-infrared fluorescent activity-based probes for imaging cysteine protease activity, reporting potential benefits for disease diagnosis but noting challenges in imaging specific locations with high cathepsin activity.
February 2025 in “Intisari Sains Medis” This article explores the potential mechanisms by which polydeoxyribonucleotide (PDRN) could improve skin quality, slow aging, and enhance skin regeneration, but reports no new clinical findings.
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.
1 citations
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January 2022 in “Annals of Dermatology” In this case report, researchers identified a novel homozygous missense mutation in the MBTPS2 gene associated with the mild form of IFAP syndrome in a 7-year-old boy.
12 citations
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February 1998 in “Gene” This study identified two high sulfur protein genes, B2E and B2F, in rats, which are expressed in hair cortical cells during anagen and contribute to hair fiber production.
April 2012 in “Cancer research” In this study, the authors found that targeting mTORC1 with rapamycin inhibited TPA-induced skin tumor promotion by affecting keratinocyte proliferation, including critical stem cell populations in the mouse epidermis.
12 citations
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November 2012 in “BioMolecular Concepts” This review discusses the diverse roles of PPARβ/δ in skin health and disease, including its involvement in skin wound healing and inflammatory skin conditions, without presenting new experimental results.
37 citations
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January 1986 in “Carcinogenesis” This study found that TPA treatment transiently induces high levels of ODC in mouse epidermal cells, particularly around hair follicles, with localization reduced by retinoic acid or cycloheximide pretreatment.