59 citations
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November 2011 in “Development” This study found that the transcription factor Trps1 acts as a novel regulator of the Wnt signaling pathway and early hair follicle progenitors in developing vibrissa follicles in mice.
April 2018 in “Journal of Investigative Dermatology” This study found that ERBB2 mutations and amplifications are likely key drivers of extramammary Paget disease, suggesting potential for targeted therapies and cancer immunotherapy due to the moderately high mutational load observed.
May 2019 in “CINECA IRIS Institutial Research Information System (University of Genoa)” This study found that patients with the MITF p.E318K variant are more likely to develop multiple primary melanomas and dysplastic nevi with uncommon dermoscopic patterns compared to non-carriers.
1 citations
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April 2021 in “IntechOpen eBooks” This review examines genetic variation in the ovine KRTAP1.1 gene and its potential impact on wool quality, reporting no new findings but suggesting opportunities for developing gene markers for wool and pelt traits.
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.
February 2024 in “Research Square (Research Square)” This study identified SFRP2 and PTGDS as potential biomarkers for female pattern hair loss, finding these genes consistently upregulated in bald hair follicles from all 18 patients, which may contribute to understanding the condition's pathogenesis and developing targeted treatments.
64 citations
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March 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” This study describes GPRC5D's unique expression pattern in tissues that produce hard keratin, with retinoic acid inducing its expression in hair bulb cells and affecting keratin gene regulation.
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.
99 citations
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August 2009 in “Nature Genetics” This study found that combined loss of Atr and p53 in adult mice led to severe tissue degeneration and delayed regeneration due to the accumulation of highly damaged cells.
288 citations
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January 2001 in “Journal of Biological Chemistry” In this study, the disruption of Gh/tissue transglutaminase in mice did not affect viability but reduced thymocyte viability and fibroblast adhesion, suggesting its role in cell stabilization and extracellular matrix interactions.
53 citations
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May 1996 in “The Journal of Clinical Endocrinology & Metabolism” This study identified multiple mutations in the 5 alpha-reductase-2 gene among male pseudohermaphrodites in the Dominican Republic, suggesting they do not share a common ancestry.
17 citations
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May 2011 in “Gene Therapy” This study found that transfecting hair follicle stem cells with a PEI-DNA complex expressing hTERT stimulated hair growth in rats by inducing follicle neogenesis and promoting the anagen phase.
March 2025 in “American Journal of Medical Genetics Part A” In this study, researchers found that mosaic PLCD1 hotspot variants, even without the recognized germline "risk allele," may be a rare but significant genetic cause of nevus trichilemmocysticus, warranting DNA testing and sensitive sequencing technologies for accurate diagnosis.
76 citations
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September 1992 in “Endocrinology” This study details the isolation and characterization of the human type II 5 alpha-reductase gene, which may play a role in male pseudohermaphroditism, prostate cancer, and benign prostatic hyperplasia.
April 2018 in “Radiotherapy and Oncology” Prostaglandin helps regenerate hair follicles after radiation damage.
6 citations
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March 1996 in “Journal of Investigative Dermatology”
March 2011 in “European Urology Supplements” Gene variation affects prostate issues and hair loss.
August 2012 in “Nature Cell Biology” This study provides direct evidence that the Wnt-β-catenin pathway promotes TERT expression in stem and cancer cells, linking tumorigenesis with pluripotency.
24 citations
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November 1997 in “Journal of Biological Chemistry” This study found that genes encoding mouse high-glycine/tyrosine proteins show distinct spatial and temporal expression patterns in hair follicles, suggesting diverse protein distribution during hair growth cycles.
In this study, researchers found two non-synonymous SNPs in the TERT gene associated with mean wool staple strength in sheep, suggesting TERT as a potential candidate gene for improving wool traits.
August 2013 in “Nature Reviews Drug Discovery” New cancer treatments show promise in reducing tumor growth and improving skin regeneration in mice.
12 citations
,
January 2000 in “Biochemical and Biophysical Research Communications” This study characterized the intron-exon organization of human keratin 15 and keratin 19 genes to aid future mutation detection analyses related to potential genetic disorders of keratinization.
9 citations
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September 2015 in “Reproductive Biomedicine Online” This study suggests that longer GGN repeat polymorphisms in the androgen receptor gene are associated with polycystic ovary syndrome in women.
4 citations
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December 2013 in “British Journal of Dermatology” This study reports an association between the ESR2 gene variant rs10137185 and female-pattern hair loss in German patients.
September 1999 in “Molecular Carcinogenesis” This study reported that overexpressing ornithine decarboxylase in C57Bl/6 mice increased their sensitivity to tumor promotion by TPA, a change reversible by doxycycline treatment.
10 citations
,
January 2004 in “Journal of Investigative Dermatology” Krt6a-Cre transgenic mice help study gene effects on hair follicle development and tumor suppression.
38 citations
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January 2020 in “Cell Transplantation” This study found that ACE2 and TMPRSS2 genes were more highly expressed in tumors of elderly male cancer patients compared to healthy individuals, with notable differences across age and gender.
November 2012 in “The Journal of Urology” Certain gene variants may raise the risk of prostate enlargement, but taking NSAIDs could reduce this risk.
380 citations
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March 2000 in “Proceedings of the National Academy of Sciences” This study demonstrates that mice with ectopic expression of the human GLI-1 gene in their skin developed tumors resembling human basal cell carcinoma, suggesting that GLI-1 is central to tumor development without additional p53 or Ha ras mutations.
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.