This study identified a 14,883 bp genomic deletion affecting the Plcd1 and Vill genes as likely responsible for the abnormal phenotype observed in snthr-1Bao mice.
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.
51 citations
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February 2004 in “Journal of Investigative Dermatology” MCSP may help identify and regulate skin stem cells, affecting hair growth and regeneration.
15 citations
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January 1991 in “Mammalian Genome” March 2026 in “Bioengineering & Translational Medicine” This study reported that a modified version of Thymosin beta 4, called PEG-rTβ4, demonstrated potential as a treatment for acute myocardial infarction by improving cardiac function and reducing cell death via specific biochemical pathways, suggesting its promise in drug development efforts.
2 citations
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July 2011 in “AFRICAN JOURNAL OF BIOTECHNOLOGY” This study identified genetic variations in the DSG4 gene among sheep, revealing valuable markers for assessing their impact on wool traits.
10 citations
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January 1997 in “Dermatology” This case report details two siblings with trichothiodystrophy, identifying reduced hair sulfur content as essential for diagnosis despite varied symptoms complicating recognition.
2 citations
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January 2014 in “Photochemical & photobiological sciences” This study suggests that the Grasp protein may play a role in regulating skin homeostasis following UVB exposure by influencing p53-mediated apoptotic responses in mice.
September 2025 in “Science Advances” This study reports that PADI4, an enzyme involved in posttranslational protein modifications, regulates progenitor cell transitions in hair follicle development by repressing transcription and interacting with translational and ribosomal processes.
This study found that injecting sFRP4 into mouse skin partially inhibited hair follicle regeneration, suggesting a potential therapy for hair follicle regeneration disorders.
53 citations
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March 2006 in “Biopolymers” This study suggests that increased amounts of less stable disulfide conformers in hair shafts may be linked to the brittleness observed in trichothiodystrophy.
305 citations
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March 2008 in “AJP Endocrinology and Metabolism” This article reviews the regulation and roles of spermidine/spermine-N(1)-acetyltransferase (SSAT) in polyamine metabolism and its potential as a target in cancer and other diseases, without reporting new experimental results.
July 2022 in “Journal of Investigative Dermatology” This study found that Substance P increased mitochondrial activity and biogenesis markers in cultured human scalp hair follicles, suggesting a novel link between stress-related neuropeptide signaling and hair follicle mitochondrial responses.
7 citations
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January 2019 in “PeerJ” This study found that intradermal injection of Secreted Frizzled-related Protein 4 inhibits, but does not block, hair follicle regeneration in mice, suggesting potential therapeutic applications for hair follicle regeneration disorders.
May 2005 in “Molecular Carcinogenesis” This study found that mrp/plf-mRNA expression in murine skin increases in response to different tumor promoters, suggesting its potential as a short-term biomarker for chemical carcinogenesis.
October 2025 in “Physiologia” In this exploratory in vitro study, treatment with spermidine increased cell viability and altered gene expression in human epidermal keratinocytes, suggesting potential benefits to cellular health and function, though effects on mitochondrial markers were not significant.
44 citations
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February 2012 in “The journal of neuroscience/The Journal of neuroscience” This study observed that Ptprq mutant mice exhibit significant abnormalities in hair bundle structure and vestibular dysfunction, suggesting similar issues may contribute to hearing loss and vestibular problems in humans with PTPRQ mutations.
This study found that OCT4B1 isoform expression was elevated in tissue and blood samples from patients with inflammatory bowel disease, suggesting a potential role in tissue repair.
February 2026 in “Frontiers in Medicine” In this case report, a three-generation family with Gorlin-Goltz syndrome showed a heterozygous PTCH1 splice-donor variant associated with the disease, and two affected relatives benefited from individualized, side-effect-guided dosing of the drug sonidegib, experiencing regression of basal cell carcinoma lesions.
5 citations
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October 2021 in “American Journal of Medical Genetics Part A” This case report identifies a novel maternally inherited MBTPS2 variant associated with an expanded phenotypic spectrum of BRESHECK syndrome, including cytopenias, bone marrow fibrosis, and chronic diarrhea.
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.
29 citations
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October 2016 in “Cell death and differentiation” This study found that in squamous cell carcinomas, the inhibition of the tumor-suppressor function of TAp73β by ΔNp63α occurs through promoter squelching, not direct protein interaction.
7 citations
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September 2019 in “Journal of Cellular Physiology” In this study, Akt2 and the oncogenic protein Tcl1 were found to be essential for early blastomere proliferation and embryo development in preimplantation mouse embryos.
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.
November 2024 in “Journal of Investigative Dermatology” This study identified PTEN as a key regulator in non-healing venous leg ulcers, suppressing immune responses and lymphangiogenesis, suggesting its potential as a therapeutic target for promoting VLU healing.
28 citations
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January 2008 in “Journal of medical investigation” This study found that Sp6 overproduction in ameloblast-lineage cells increased cell proliferation and ameloblastin expression, suggesting that Sp6 promotes amelogenesis by inhibiting follistatin gene expression.
This study identified ISPP-Rb, a novel immuno-stimulatory complex from Royoporus badius, that significantly activates murine macrophage cells and induces multiple proinflammatory cytokines.
November 1997 in “Open Archive (Karolinska Institutet)” This research observed that mutations in the PTCH gene are common in both sporadic and hereditary basal cell cancers, suggesting a critical role of the PTCH signaling pathway in skin tumor development.
July 2026 in “Pediatric Allergy and Immunology”
April 2023 in “Journal of Investigative Dermatology” This research reexamined transcriptomic data to study stem and progenitor cell proliferation in psoriasis, finding that the number of committed progenitor cells increased eight-fold in psoriatic skin without altering stem cell numbers, potentially identifying new therapeutic targets.