11 citations
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March 2020 in “American Journal of Medical Genetics Part A” This study identified a novel homozygous EDNRA variant linked to Oro-Oto-Cardiac Syndrome and showed that EDNRA signaling is essential for normal craniofacial and cardiovascular development.
4 citations
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October 2018 in “Asia-Pacific Journal of Clinical Oncology” This review discusses the use of CDK4/6 inhibitors with endocrine therapy in treating women with HR+ HER2- advanced breast cancer, but it reports no new clinical findings.
26 citations
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October 2019 in “JNCI Cancer Spectrum” This clinical study observed that in patients with advanced breast cancer and BRCA1/2 mutations, talazoparib provided significantly better progression-free survival, objective response, clinical benefit, and patient-reported outcomes compared to physician’s choice chemotherapy, despite common side effects like anemia and fatigue.
March 2005 in “Journal of the American Academy of Dermatology” Recognizing minor skin lesions can help identify serious cancer syndromes.
January 2008 in “HAL (Le Centre pour la Communication Scientifique Directe)” This study identified complex regulatory elements and interactions involving the Hr gene and HR protein that are crucial for hair follicle formation and cycling in mammals.
2 citations
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February 2023 in “Transgenic Research” In this study, the presence of the HPV11-E2 protein in transgenic mice was found to increase and vary the expression of a reporter gene in hair follicle bulge regions.
2 citations
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December 2013 in “Cancer research” In this study, GTx-027, a selective androgen receptor modulator, significantly inhibited tumor growth in certain breast cancer models and showed good tolerance in a Phase II trial with postmenopausal women.
10 citations
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February 2022 in “Cancers” This review discusses managing prostate cancer in patients with high-risk germline mutations and highlights the need for more research and consensus guidelines, reporting no new clinical results.
January 2002 in “映像情報メディア学会技術報告” This study found that 60% of examined prostate tumors had new somatic substitutions in the SRD5A2 gene, affecting enzyme activity and potentially influencing prostate cancer progression.
303 citations
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October 2000 in “Nature” This study found that RXRα plays a critical role in hair cycling and keratinocyte functions in mice, likely through its interaction with VDR in epidermal cells.
In this study, the researchers identified that perturbing both AKT1 and MDM2 significantly reduces epithelial-mesenchymal transition in melanoma, proposing Cialis and Finasteride as potential therapeutic candidates with favorable properties for managing aggressive melanoma.
September 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, researchers using live mice observed that oncogenic Kras mutation disrupts hair follicle architecture by sustaining ERK signal activation, which affects stem cell behavior and tissue integrity.
2 citations
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June 2006 in “Journal of Clinical Pathology” This study found that the expression of certain biomarkers, including HER-2 and oestrogen receptor alpha, in breast skin may be influenced by the presence of breast cancer, suggesting a systemic effect.
November 2024 in “NeoReviews” This case report details an extremely low-birth-weight preterm neonate presenting with unique dermatologic symptoms, leading to a diagnosis of neonatal inflammatory skin and bowel disease due to a novel homozygous EGFR gene mutation, highlighting the importance of genetic testing in ambiguous cases.
68 citations
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November 2011 in “The American journal of pathology” This review discusses the role of the hedgehog signaling pathway in hematological cancers and its potential as a therapeutic target; it reports no new clinical findings.
5 citations
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January 2013 in “Journal der Deutschen Dermatologischen Gesellschaft” The document concludes that individualized treatment for malignant epithelial tumors is necessary and more research on metastatic squamous cell carcinoma treatments is needed.
15 citations
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December 2014 in “PLoS ONE” This study identifies iRhom2 as a crucial regulator of hair follicle differentiation, showing that the iRhom2Uncv mutation leads to dysplasia and reduced TACE maturation, resulting in a hairless phenotype in mice.
8 citations
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March 2011 in “Endocrine” In this study, researchers identified a novel p.R50X mutation in the vitamin D receptor gene, linked to hereditary vitamin D-resistant rickets in two siblings.
January 2019 in “Publisher” This study found that human basal cell and squamous cell carcinomas have distinct gene expression patterns, with specific up-regulation of zinc finger encoding genes in basal cell carcinoma.
21 citations
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February 2013 in “Clinics in Dermatology” This review discusses recent developments in targeted melanoma therapies, including BRAF/MEK/ERK pathway inhibitors and challenges like resistance and skin toxicities, but reports no new clinical results.
January 2023 in “European journal of gynaecological oncology” This study found that depletion of KRT17 in endometrial cancer reduced cell growth, motility, and angiogenesis, suggesting KRT17 as a potential therapeutic target.
April 2019 in “Journal of Investigative Dermatology” This study developed an Asian human sebocyte cell line from breast skin tissue that can be used for sebaceous gland biology investigations, showing that Y27632 may promote cell growth through EGFR-CRAF-MEK-ERK and AKT pathways.
January 2026 in “International Journal of Molecular Sciences” This study found that inhibiting the Hedgehog pathway may reduce proliferation and migration in melanoma, suggesting its potential repurposing as a therapeutic target.
66 citations
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December 1999 in “Journal of Investigative Dermatology” New mutations in the hairless gene may cause hair loss and affect bone development.
October 2024 in “Frontiers in Oncology” This case study reports a novel mutation in the TRPV3 gene causing atypical Olmsted syndrome, characterized by disabling keratoderma and squamous cell carcinoma, highlighting the need for careful long-term monitoring in affected patients.
May 2026 in “Discover Oncology” This review discusses the role of LGR4 in tumors, highlighting its involvement in cancer progression, metastasis, and chemotherapy resistance, as well as its regulatory effects on tumor stem cell self-renewal and stem cell characteristics, based on multiple recent studies.
July 2012 in “European journal of cancer” This study demonstrated that switching aE-catenin to aT-catenin in murine skin substantially rescued hyperproliferative and pre-cancerous conditions, but led to partial baldness, indicating potential functional discrepancies.
5 citations
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April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This study reports on an ongoing Phase I/IIa clinical trial of ex vivo gene therapy for treating severe Recessive Dystrophic Epidermolysis Bullosa, involving six adult participants with COL7A1 mutations resulting in deficient type VII collagen production.
November 2022 in “Journal of Investigative Dermatology” In this study, analysis of over 800 Iranian patients with epidermolysis bullosa identified 15 with pathogenic PLEC variants, highlighting a correlation between variant locations and phenotypic manifestations of plectinopathies.
37 citations
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April 2010 in “FEBS Letters” In this study, researchers reported that the activation of EDA2R by p53 leads to p53-dependent cell death in cancer cells and is involved in chemotherapy-induced hair loss.