June 2023 in “British Journal of Dermatology” In this case report, researchers described a female child with total alopecia due to a mutation in the SNRPE gene, emphasizing the need for updated genetic testing as knowledge advances to avoid diagnostic delays in hereditary nonsyndromic hypotrichosis.
2 citations
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June 2025 in “Preprints.org” This review highlights the potential of amphiregulin as a therapeutic target, noting its role in both fibrotic and malignant diseases, and discusses promising early findings but reports no new clinical results.
36 citations
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October 2015 in “Cell reports” In this study, researchers found that Gab1 is critical in controlling the hair cycle and the self-renewal of hair follicle stem cells in mice.
60 citations
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October 2020 in “Nature Communications” This study found that small molecule AP-1 inhibitors may selectively target SMO inhibitor-resistant basal cell carcinoma cells characterized by specific markers, potentially enhancing combinatorial cancer therapies.
14 citations
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February 2008 in “Stem Cells and Development” This study identified several genes highly expressed in germ-line stem cells that are also common in hematopoietic stem cells, potentially aiding the exploration of fundamental stem cell commonalities.
December 2019 in “Reproduction Fertility and Development” This study found that mouse embryonic fibroblasts better supported the growth and maintenance of LGR5+ epidermal stem cells compared to porcine fetal fibroblasts, under various culture conditions.
60 citations
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January 2007 in “Human Genetics” In this study, researchers found that while the SNP rs6152 is strongly associated with androgenetic alopecia, the GGN triplet repeat is not, suggesting the causative variant is likely a non-coding one.
28 citations
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March 2010 in “British Journal of Dermatology” This abstract contains only supplementary material information and reports no new research findings.
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that the mutant hairless rhino bald protein in mice interacts with the vitamin D receptor but cannot repress its transactivation and shows abnormal cellular localization.
This study found that deleting the Mad2l1 gene in mice leads to rapid onset of acute lymphoblastic leukemia and liver cancer due to induced chromosomal instability.
6 citations
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January 2010 in “Neoplasma” In this study, researchers found that shorter CA repeats in the ERbeta gene are correlated with PSA expression, and PSA immunoexpression is associated with increased disease-free survival in breast cancer.
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.
1 citations
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June 2023 in “Animals” In this study, researchers found that overexpression of CRABP2 enhanced the proliferation of dermal papilla cells in Hu sheep through activation of the Wnt/β-catenin pathway, even when the pathway was inhibited.
14 citations
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April 2015 in “Stem Cell Research & Therapy” This study found that dermal stem cells from granulation tissue promoted wound healing and reduced fibrosis in a combined radiation and skin wound mouse model.
16 citations
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December 2021 in “Journal of Integrative Neuroscience” This study found that upregulating miR-325-3p in glioma suppresses tumor cell proliferation, migration, and invasion by inhibiting FOXM1, suggesting its potential as a treatment target for brain cancer.
20 citations
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January 2017 in “Experimental Dermatology” In this study, deleting the Igf1 receptor in specific skin cells of mice affected hair follicle cycling but not overall skin health, suggesting Igf1r's role in hair cycle regulation through Bmp-4 activation.
November 2025 in “Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin” This study examined 16 sporadic trichoblastic tumors and found that although one showed malignant transformation, clinical follow-up revealed no residual or metastatic disease. RNA sequencing indicated a high tumor mutational burden and absence of a UV-related signature, helping to distinguish these tumors from similar growths.
May 2009 in “OPAL (Open@LaTrobe) (La Trobe University)” In this study, a transgenic mouse model suggested that suppressing the expression of the HGPS mutation may reverse disease symptoms, including skin abnormalities, supporting the potential for treatment development.
42 citations
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February 2019 in “Circulation” This study observed that DNA damage response (DDR) plays a key role in pressure overload-induced cardiomyocyte hypertrophy, with disruption of the ATM kinase pathway potentially modulating this hypertrophy in mice.
8 citations
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June 2001 in “Journal of Biological Chemistry” This study found that the truncated hHb1-DeltaN transcript in breast cancer cells is produced by a cryptic intron promoter and responds to DNA demethylation, potentially altering cancer cell adhesion.
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.
December 2005 in “Science s STKE” This study reports that localized Rho GTPase activity and ROS production play a critical role in polarized growth and movement in both migrating endothelial cells and developing plant root hairs.
21 citations
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April 2016 in “International Journal of Oncology” This study found that treatment with the GnRH agonist Triptorelin significantly decreased invasion and expression of S100A4 and CYR61 in certain breast cancer cells, suggesting a potential role in slowing cancer progression.
638 citations
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October 1997 in “Nature” 37 citations
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June 2004 in “Human molecular genetics online/Human molecular genetics” This study suggests that the HCR risk allele within the PSORS1 locus may contribute to psoriasis susceptibility by altering gene expression related to skin structure and differentiation, although these changes alone might not result in clinical symptoms.
25 citations
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December 2005 in “Molecular Genetics and Metabolism” This study reports that riboflavin may increase enzymatic activity in a GCDH-deficient patient with specific mutations, but doesn't fully normalize urinary organic acid levels.
110 citations
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January 1995 in “European Journal of Neuroscience” This study found that glycinergic synapses in the rat spinal cord are predominantly associated with gephyrin, though gephyrin may also be present at non-glycinergic synapses.
70 citations
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December 2008 in “Cancer Research” This study found that activating CXCR2 on ras-transformed keratinocytes promotes migration and tumor development in a mouse skin model.
April 2025 in “Dermatology Practical & Conceptual” In this study, researchers observed that individuals with premature graying of hair had significantly higher LC3 gene expression compared to controls, suggesting a potential link between autophagy and the development of this condition, with LC3 gene expression as a possible independent predictor.
September 2025 in “PeerJ” This study found that the genes FCER1A and RGS1 are promising biomarkers for diagnosing systemic lupus erythematosus, with FCER1A downregulated and RGS1 upregulated in patients.