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.
January 2024 in “Genetics in Medicine Open” In this report, two adult patients with Tatton-Brown-Rahman syndrome exhibited new cardiac features, such as atrial fibrillation and ventricular and atrial dilatation, highlighting the importance of cardiovascular follow-up in adults with this condition.
3 citations
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August 2024 in “The Journal of Cell Biology” This study demonstrated that in live rodents, actin filaments adjust their structure to facilitate membrane transfer between cellular compartments with different biophysical properties.
7 citations
,
June 2020 in “npj regenerative medicine” This study found that GDNF promotes hair formation and skin wound repair by enhancing the self-renewal and differentiation of bulge stem cells in mice.
15 citations
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November 2022 in “Cell Death and Disease” In this study, the researchers identified CEP135 as a biomarker linked to poor sarcoma survival and suggested PLK1 as a potential therapeutic target for sarcoma patients with high CEP135 expression.
10 citations
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May 2021 in “Frontiers in Plant Science” This study identified OsRopGEF3 as a key regulator in rice root hair growth, demonstrating that it interacts with proteins to promote reactive oxygen species production, affecting root hair length and width.
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.
14 citations
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July 2021 in “Bioscience Reports” In this study, activation of Tgr5 was found to improve alopecia areata and bone microstructure in mice by down-regulating the JAK1-STAT3 signaling pathway.
5 citations
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May 2023 in “Microbial Cell Factories” This study found that a newly produced version of KGF-1 with 135 residues maintained biological activity and could serve as an alternative to the standard 140-residue KGF-1.
64 citations
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August 1977 in “PubMed” This article describes the skin changes seen in acute and chronic graft-vs-host reactions after bone marrow transplantation, highlighting the potential for early recognition due to the visibility of these changes, but reports no new clinical results.
91 citations
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December 2019 in “The EMBO Journal” This study found that the E3 ligases NEDD4 and NEDD4L regulate intestinal stem cell priming by degrading the LGR5 receptor, and their loss leads to increased Wnt activation and crypt proliferation, which in turn accelerates intestinal tumor progression in mice.
December 2014 in “Tesis Doctorals en Xarxa (Consorci de Serveis Universitaris de Catalunya)” In this study, researchers found that overexpressing SOX2 in colorectal cancer cell lines can cause DNA damage and cell death, while repressing it reduces tumor growth and cell aggressiveness.
10 citations
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January 2020 in “Genes & Diseases” In this study, circ-Smad5 was found to inhibit the proliferation and cell cycle progression of JB6 cells by suppressing Wnt/β-catenin/Lef 1 signaling activation, marking the first report of its function.
13 citations
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July 2014 in “Cell stem cell” This study identified a novel phase of stem cell quiescence, GAlert, in mice, regulated by mTORC1, that primes stem cells for injury response.
1 citations
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July 2025 in “Frontiers in Genetics” In this study, researchers classified melanomas by filaggrin expression levels and found that in filaggrinHigh melanomas, there are significant changes in FGFR signaling and impaired GNA14 and Th1 signatures, linked to genetic and immune alterations associated with pruritus.
835 citations
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October 2008 in “Nature Genetics” Lgr5 is a marker for active, long-lasting stem cells in mouse hair follicles.
2 citations
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May 2022 in “Research Square (Research Square)” This study demonstrates that the amino-terminally shortened KGF-1 variant with 135 residues maintains biological activity, suggesting it may serve as an alternative to the original KGF-1 for certain therapeutic applications.
33 citations
,
January 2008 in “Journal of Molecular Neuroscience” September 2025 in “Institutional Repositories DataBase (IRDB)”
September 2022 in “Research Square (Research Square)” This study found that overexpressing Rps14 in supporting cells promoted hair cell regeneration in the organ of Corti by facilitating cell proliferation and differentiation.
This study found that simultaneous inactivation of pRb and p53 genes in mice's epidermis accelerates aggressive squamous cell carcinoma development, highlighting p53 as a key tumor suppressor.
136 citations
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March 1998 in “Oncogene” This study found that transgenic mice overexpressing E2F1 in their epidermis developed skin tumors, confirming in vivo that deregulated E2F1 activity can contribute to tumor development.
3 citations
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July 2022 in “Brain and Behavior” This study observed that a CARASIL mouse model demonstrated abnormal behavior, vascular and cellular changes, and upregulation of the TGF-β/Smad signaling pathway, indicating its potential involvement in CARASIL pathogenesis.
January 2004 in “Linchuang pifuke zazhi” This study identified specific genes that are more abundantly expressed in black hair than in gray hair, with black hair displaying higher expression of pigment-related proteins and gray hair showing increased expression of keratin-related genes.
April 2018 in “Journal of Investigative Dermatology” In laboratory models of human skin, this study found that treating with resveratrol significantly increased glutathione levels, potentially enhancing the skin's antioxidant defenses.
18 citations
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January 2008 in “Journal of The American Academy of Dermatology” This study found that the proteins GDNF, NTN, GFRα-1, GFRα-2, and c-Ret are differentially expressed during various stages of the human hair follicle cycle, with potential implications for hair biology.
February 2009 in “Journal of Investigative Dermatology” EGFR is essential for organized skin nerve growth and branching.
2 citations
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October 2022 in “British journal of haematology” This study reports the first successful use of zanubrutinib to treat a 15-year-old Chinese girl with severe refractory Evans' syndrome, resulting in a sustained recovery of platelet counts and haemoglobin levels.
10 citations
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June 2021 in “Journal of Investigative Dermatology” GNPTAB gene is crucial for normal hair color in humans and mice.
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.