January 2013 in “International Journal of Trichology” This case report highlights the discovery of a novel TRPS1 gene mutation in a 17-year-old with TRPS type I, underscoring the diagnostic importance of hair symptoms in congenital hair diseases.
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.
41 citations
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April 2009 in “Journal of comparative neurology” In this study, researchers observed that P2X3-immunoreactive fibers extensively innervate the epidermis of rats, suggesting a primary role in detecting noxious stimuli in cutaneous tissue.
November 2024 in “Journal of Investigative Dermatology” Serotonin helps wounds heal faster.
25 citations
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January 2014 in “Annals of Dermatology” Sfrp2 increases during hair follicle catagen phase and slows keratinocyte growth.
May 2026 in “Chemical Engineering Journal” 75 citations
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September 2016 in “EMBO journal” This study found that PRC2 plays a crucial role in maintaining intestinal homeostasis by supporting progenitor cell proliferation and limiting secretory lineage differentiation.
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.
140 citations
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February 2014 in “Neuron” This study found that the opioid system, particularly via the delta opioid receptor, broadly regulates cutaneous mechanosensation, including touch, and suggests targeting this receptor could alleviate injury-induced mechanical hypersensitivity.
49 citations
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January 2010 in “Plant and Cell Physiology” This study found that a phosphorus starvation-insensitive mutant of Arabidopsis thaliana shows altered root growth and auxin responses under low phosphate conditions compared to wild-type plants, suggesting a role for LPR1 in regulating these traits.
October 2014 in “Archivio Istituzionale della Ricerca (Universita Degli Studi Di Milano)” This study identified a new subset of Ret-positive sensory neurons involved in itch perception, characterized by their unique expression profile and response to specific itch-inducing molecules.
4 citations
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October 2013 in “Springer eBooks” This chapter reviews existing knowledge about melatonin's MT₁ and MT₂ receptors in human tissues, discussing their established and potential functions, but reports no new clinical findings.
506 citations
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January 2012 in “Molecular and Cellular Endocrinology” This review details the expression and diverse functions of melatonin receptors in non-neural tissues and reports no new clinical findings, emphasizing their potential as therapeutic targets across various physiological and pathological processes.
34 citations
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August 2019 in “Journal of Allergy and Clinical Immunology” mTORC2 is crucial for healthy skin barrier by regulating lipids and filaggrin.
April 2018 in “Journal of Investigative Dermatology” In this study, TRPV3G568V mice exhibited periodic hair loss and immune cell infiltration in the dermis, without affecting hair follicle stem cell fate, suggesting a focus on dermal immune cells for future research.
67 citations
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January 2020 in “Cellular & Molecular Immunology/Cellular & molecular immunology” This review discusses the dual role of tissue-resident memory T cells in providing immune protection against infections and cancer and contributing to autoimmune skin disease pathology, without presenting new experimental results.
April 2023 in “Cancer research” This study suggests that KRTAP2-3 may serve as a novel biomarker to identify cells in the polyaneuploid cancer cell state, which is linked to therapy resistance and poor prognosis in prostate cancer.
December 2022 in “KSBB Journal” This study suggests that autophagy is essential for regulating TLR3-mediated regenerative processes in human keratinocytes.
April 2017 in “Journal of Investigative Dermatology” This study found that a single dose of TRP significantly reduced the number of UV-B-induced actinic keratosis lesions in a mouse model and was associated with improved skin histology and minimal side effects.
5 citations
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March 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that Piezo2 channels are primarily located on sensory axon membranes in mechanosensory end organs, supporting a model where mechanical stimuli activate Aβ RA-LTMR neurons via axon protrusions.
188 citations
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June 1998 in “Molecular cell” This study found that mimicking the XPD point mutation in mice resulted in trichothiodystrophy-like symptoms, supporting the role of basal transcription and DNA repair defects in the disease.
546 citations
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February 2008 in “PLANT PHYSIOLOGY” This study found that overexpression of OsPHR2 in rice leads to increased phosphate accumulation and root architecture changes even under phosphate-sufficient conditions.
324 citations
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May 2002 in “Oncogene” April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” This commentary discusses the crucial role of the alternative splicing factor Esrp1 in maintaining skin barrier function and its association with skin diseases like atopic dermatitis and psoriasis, but reports no new clinical results.
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.
123 citations
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November 2012 in “Stem cells” This study reports that miR-302 promotes pluripotency by inhibiting NR2F2 and indirectly regulating OCT4 in stem cells, enhancing reprogramming efficiency when added to traditional factors.
8 citations
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September 2013 in “Molecular carcinogenesis” This study found that rapamycin effectively inhibits TPA-induced keratinocyte proliferation and skin tumor promotion by targeting mTORC1 signaling in both wild-type and transgenic mice.
9 citations
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January 2018 in “Acta dermato-venereologica” This study found that carbonic anhydrase II was significantly upregulated in human keratinocytes when treated with toll-like receptor 3 agonist and Th2 cytokines, suggesting its potential role in inflammatory skin conditions.
105 citations
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February 1996 in “Journal of biological chemistry/The Journal of biological chemistry” In this study, sequences upstream of the TGM3 gene were found to regulate epithelial-specific gene expression in keratinocytes, suggesting potential applications in gene therapy.
3 citations
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April 2012 in “Bioinformation” This study concluded that specific SNPs in the TRPS1 gene significantly alter its protein structure, affecting interactions and contributing to the development of congenital hypertrichosis.