This study suggests that finasteride may upregulate BTG2 and CD244 gene expression through differential methylation, indicating potential as a treatment avenue for medulloblastoma.
December 2021 in “Figshare” This study suggests that the downregulation of BBS7 in occlusal hypofunctional periodontal ligament impairs Shh signaling, which is essential for maintaining periodontal ligament homeostasis.
11 citations
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May 2011 in “The Journal of Dermatology” This case report describes a possible association between Vogt-Koyanagi-Harada disease and linear IgA/IgG bullous dermatosis in a 35-year-old Japanese male, though coincidence cannot be ruled out.
19 citations
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November 1971 in “Clinica Chimica Acta” In this study, the researchers found that the absence of the NFI-C transcription factor delayed the hair growth cycle in mice by affecting key gene expressions and signaling pathways.
December 2021 in “Figshare” This study found that BBS7 downregulation in occlusal hypofunctional PDL affects Sonic hedgehog signaling activity, impacting PDL homeostasis.
December 2021 in “Figshare” This study found that BBS7 is crucial for maintaining Shh signaling and periodontal ligament homeostasis, with occlusal hypofunction leading to its downregulation and impacting cell migration and angiogenesis.
January 2024 in “Zenodo (CERN European Organization for Nuclear Research)” This study conducted a genome-wide association meta-analysis using UK Biobank data to explore genetic correlations with perceived youthfulness, revealing traits linked to this perception among both male and female participants.
December 2021 in “Figshare” This study found that BBS7 expression is crucial for maintaining Sonic hedgehog signaling and periodontal ligament homeostasis in occlusal hypofunctional conditions.
4 citations
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October 2023 in “Children” This study diagnosed a group of six girls with various ectodermal abnormalities, identifying cranio-skeletal malformations consistent with focal dermal hypoplasia (Goltz syndrome), and found heterozygous mutations in the PORCN gene in two children.
2 citations
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January 2022 in “Experimental Dermatology” This paper proposes that GDNF signaling may enhance skin regeneration and hair follicle formation by influencing dermal fibroblast differentiation, particularly following injury.
1 citations
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January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study developed a mouse model to mimic PHGDH gene copy number gain, finding that increased PHGDH expression leads to abnormal melanin production, which may offer insights into its role in melanoma.
January 2011 in “Junshi yixue” This study established a murine chronic graft-versus-host disease model with scleroderma features, showing typical skin changes and cellular infiltrates associated with the condition.
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.
January 2024 in “Zenodo (CERN European Organization for Nuclear Research)” This meta-analysis utilized genome-wide association data to explore the genetic traits related to perceived youthfulness across different sex groups in the UK Biobank, incorporating factors like facial aging and lifestyle habits, but the abstract does not report specific results.
November 2025 in “The Journal of Immunology” This study observed that in human scalp hair follicles, BTNL2 expression is lower in stressed conditions, which correlates with increased cytotoxic activity by gamma/delta and CD8+ T cells, suggesting a possible role for BTNL2 in controlling immune responses relevant to alopecia areata.
11 citations
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November 2011 in “The Journal of Dermatology” This case report highlights the association of three CX26 gene mutations, particularly the D50N mutation, with keratitis–ichthyosis–deafness syndrome and its potential role in scalp squamous cell carcinoma and breast cancer development in a patient.
76 citations
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June 2015 in “Journal of biomedical science” This study demonstrated that dominant mutations in mouse gasdermin A3 disrupt mitochondrial oxidative stress regulation, suggesting a gain-of-function effect on epidermal differentiation.
December 2021 in “OPAL (Open@LaTrobe) (La Trobe University)” This study found that BBS7 is crucial for maintaining Sonic hedgehog signaling activity and periodontal ligament homeostasis, with changes in gene expression observed in occlusal hypofunctional PDL.
September 2023 in “Plant journal” This study showed that the zinc finger protein GIS3 is important for root hair growth in Arabidopsis by regulating RHD2 and RHD4 genes, with application of ethylene and cytokinin helping restore root hair presence in mutated variants.
July 2020 in “Nepalese journal of ophthalmology” This case report from Nepal describes a five-year-old boy with Hutchinson Gilford Progeria Syndrome experiencing ocular manifestations, highlighting the role of ocular senescence in this genetic disorder.
This study found that GPC1 is a key regulator of angiogenesis in hair follicles and may be an interesting target for addressing alopecia in dermatology research.
April 2023 in “Journal of Investigative Dermatology” This study found that sebaceous glands can regenerate after PPARg deletion in adult skin, relying on the hair cycle and FGFR signaling.
9 citations
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June 2017 in “American journal of ophthalmology. Case reports” This case report identifies a novel CDH3 gene mutation associated with hypotrichosis with juvenile macular dystrophy in a 13-year-old Turkish girl, highlighting implications for future genetic analysis and counseling.
2 citations
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June 2016 in “International journal of experimental pathology” This study found that expression of GDNF and GFR α-1 proteins in human skin decreases with age, particularly in the epidermis, suggesting that their signaling pathways may be altered as people grow older.
16 citations
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July 2018 in “Experimental Dermatology” This study suggests that the transcription factor Gata6 plays a role in maintaining the structure of the upper hair follicle and may be implicated in conditions marked by its abnormal expansion, such as acne or cystic diseases.
8 citations
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January 2023 in “Journal of Clinical and Translational Hepatology” This study examines the development and application of cultured models for gallbladder carcinoma and highlights innovations and challenges in constructing effective in vitro growth models for cancer research.
September 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found weak epidemiological associations between male pattern baldness and coronary heart disease, but no significant genetic link, though specific loci shared risks with other conditions.
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.
January 2003 in “Jiefangjun yixue zazhi” In this study, the researchers observed that the expression of certain growth factors and their receptors increases with gestational age, implying a role in skin development, structure maintenance, and wound healing.
September 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that N-acetyl-GED may protect and partially rescue human hair follicles from experimentally-induced epithelial-mesenchymal transition ex vivo, suggesting its potential in treating scarring alopecias like lichen planopilaris.