This study suggests that disruptions in the Ran system related to nuclear transport may be a key factor in the development of cellular issues in Hutchinson Gilford Progeria Syndrome.
4 citations
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July 2012 in “Genesis” This study reported that a Megsin-Cre transgene enables genetic manipulation primarily in skin, forestomach, and esophagus tissues, offering a new tool for studying development and diseases in these areas.
7 citations
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July 2016 in “Journal of Biomedical Materials Research Part A” This study found that a novel hydrogel scaffold, cGEL, significantly increased melanin production and melanotic gene expression in human melanocytes compared to other graft materials, suggesting its potential as a superior carrier for skin grafting.
July 2024 in “Journal of Investigative Dermatology” PP405 may help hair growth by activating hair follicle stem cells.
September 2016 in “Journal of Dermatological Science” This study reports a case of GGCX syndrome in a 55-year-old Japanese male, characterized by PXE-like symptoms and coagulation deficiency, with an unreported phenotype of possible spinocerebellar degeneration.
1 citations
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May 2011 in “Molecular Medicine Reports” This study found no association between the -866G/A polymorphism in the UCP2 gene and the development of polycystic ovary syndrome.
97 citations
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December 2011 in “New England Journal of Medicine” This article discusses the FDA's decision not to approve 5α-reductase inhibitors for prostate cancer prevention, citing an increase in high-grade tumors but no mortality evidence, and reports no new results.
9 citations
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August 2013 in “PLOS ONE” This study validated that the 20p11 genetic locus is associated with increased risk of androgenic alopecia in the Chinese Han population, suggesting shared genetic factors between Chinese and European populations.
1 citations
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April 2024 in “Metabolites” In this study, researchers found that male and female APCHi mice exposed to ionizing radiation showed near-normal lipid and metabolite levels, suggesting activated protein C may offer some protective effects against radiation-induced damage affecting organ systems.
January 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” This study suggests that typical skin lesions in Carney complex may originate from the pro-melanogenic activity of a specific dermal fibroblast population influenced by PKA signaling.
1 citations
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April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that topical patidegib gel significantly shrank basal cell carcinomas in Gorlin syndrome patients without causing the systemic side effects common with oral hedgehog inhibitors.
3 citations
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May 2020 in “Journal of Cellular and Molecular Medicine” This study identified critical roles for the gene GREM1 in the differentiation and expansion of endothelial progenitors derived from human urinary induced pluripotent stem cells.
This study found that CYP21A2 gene mutations are the most common cause of non-classic congenital adrenal hyperplasia, while CYP11B1 mutations are rare and may partially impair enzyme activity.
January 2016 in “International journal of reproduction, contraception, obstetrics and gynecology” This study found that the IGF2 gene Apa1 A820G polymorphism is associated with an increased risk of developing PCOS in the studied population.
September 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a germline variant in PLCD1 as a major risk allele for familial trichilemmal cysts, requiring a subsequent somatic mutation in the same allele for cyst formation.
138 citations
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November 2015 in “Journal of Pharmacology and Experimental Therapeutics” This review discusses the mechanisms associated with protoporphyrin IX in living cells and reports no clinical results; the authors emphasize its potential in cancer diagnosis and the risks of toxicity.
32 citations
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July 2003 in “Histochemistry and Cell Biology”
184 citations
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September 2006 in “PLoS Genetics” This study found that loss of Apc due to K14-cre-mediated gene recombination in mice led to aberrant growth in ectodermally derived squamous epithelia, implicating its critical role in specifying epithelial cell fates during embryonic development.
23 citations
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June 1992 in “PubMed” This study found that RAR-gamma 1 mRNA is present in multiple skin layers and structures, suggesting a role in maintaining and differentiating normal epidermis and skin appendages.
January 2025 in “Biochimica et Biophysica Acta (BBA) - Molecular Cell Research” This study found that EGCG, a compound from green tea, may enhance the proliferation and antioxidant activity of dermal papilla cells by upregulating VEGFA expression, potentially aiding hair follicle growth.
333 citations
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March 2000 in “Proceedings of the National Academy of Sciences” In this study, researchers established that increased expression of the human GLI-1 gene in mouse skin leads to the development of tumors that closely resemble human basal cell carcinomas, without requiring additional mutations in the p53 or Ha ras genes.
This study identified a genetic locus associated with rhabdomyosarcoma susceptibility in mice and found that specific differentiation markers are linked to the regression of basal cell carcinoma.
This study reports that a novel series of compounds can potently and selectively inhibit glycogen synthase kinase-3, which activates glycogen synthase in insulin receptor-expressing cells and primary rat hepatocytes.
9 citations
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April 2006 in “American Journal of Pathology” This study found that mutations in the Sgk3 gene cause defective hair follicle development and altered hair cycling in mice, with variable phenotypic outcomes depending on different dysfunction patterns of the SGK3 protein.
1 citations
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April 2017 in “Journal of Investigative Dermatology” This study suggests that alkaline phosphatase-regulated expression of CCL5 contributes to the trichogenicity of human dermal papilla spheres.
2 citations
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February 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, researchers found that correcting the HGPS mutation with Adenine base editing partially rescued accelerated skin cell differentiation and reduced cell death in patient-derived stem cells.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that the PPARγ modulator NAC-GED-0507-Levo may protect hair follicles from chemotherapy-induced damage, potentially offering a strategy to address irreversible hair loss in cancer patients.
1 citations
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May 2022 in “International journal of molecular sciences” This study found that in Hutchinson–Gilford progeria syndrome, iPSCs committed to the keratinocyte lineage faster than normal cells, with LEF1 expression reduced and a partial rescue of the phenotype achieved through adenine base editing.
October 2022 in “The Korean Journal of Physiology and Pharmacology” This review discusses the roles of prostaglandins in hair loss and highlights their potential as targets for new alopecia treatments, but reports no new clinical findings.
48 citations
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April 2008 in “Human Molecular Genetics” This study found that although progerin expression in mouse skin causes significant nuclear shape changes in keratinocytes, it does not result in alopecia or common skin abnormalities seen in human Hutchinson–Gilford progeria syndrome.