16 citations
,
July 2021 in “Histopathology” This review discusses recent findings on molecular changes in cutaneous adnexal tumours and reports novel markers and pathways involved, highlighting the diverse oncogenic drivers and tumour suppressor alterations.
44 citations
,
November 2009 in “Archives of Dermatology” This study observed that patients with CYLD mutations frequently experienced severe, painful tumors beyond the head and neck, impacting their quality of life, with hormonal factors possibly contributing to tumor development.
January 2024 in “Archives of Endocrinology and Metabolism” In this case report, a novel heterozygous mutation in the insulin receptor gene was identified in an adolescent girl with type A insulin resistance syndrome, characterized by excessive hair growth and skin changes, and her mother.
22 citations
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February 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes severe skin and nail issues and hair loss.
6 citations
,
April 2013 in “Current Dermatology Reports” This review discusses the cutaneous side effects associated with vemurafenib and ipilimumab in metastatic melanoma treatment and emphasizes the importance of dermatologists in managing these skin eruptions; it reports no new clinical results.
6 citations
,
October 2020 in “Endocrine journal” This case report identifies two specific mutations in the WRN gene in a 40-year-old female with Werner syndrome, highlighting the need for awareness of its early manifestations and treatment options.
24 citations
,
April 2017 in “Oncology Reports” In this study, full-size KRT81 was expressed in both normal breast epithelial and breast cancer cells, and contributed to the migration and invasion abilities of breast cancer cells.
April 2015 in “Experimental Dermatology” Melanoma risk tools need improvement, certain gene mutations cause skin diseases and could be treated by targeting those mutations, skin wrinkling may relate to lung aging due to genetic factors, and oxidative stress affects hair loss but can be reduced in low oxygen.
153 citations
,
April 1998 in “Current Biology” This study found that benign tumors with a high risk of malignant progression primarily arise from hair follicle cells when a mutant ras gene is expressed in a specific population of epidermal cells in mice.
5 citations
,
September 2015 in “BMC Medical Genetics” In this study, individuals with a c.1072C > T mutation in the EDAR gene showed more hair shaft deformations compared to non-mutation carriers, highlighting EDAR's role in hair follicle development.
42 citations
,
August 1999 in “The American journal of pathology” This study found that basal cell carcinomas show strong expression of vitamin D receptors at both mRNA and protein levels, suggesting a potential role in tumor growth regulation.
3 citations
,
April 2019 in “Stem cells international” This study found that CRABP1, Nestin, and Ephrin B2 are expressed in both the tumor stroma and invasive front of skin adnexal tumors and basal cell carcinomas.
April 2010 in “Cancer Research” This study found significant upregulation of IDO-1 and IDO-2 in human basal cell carcinomas, suggesting that IDO production may confer immune privilege characteristics to the tumors, potentially impacting their growth.
25 citations
,
May 2018 in “Clinical & Translational Oncology” This review summarizes common skin-related side effects of BRAF inhibitors and immunotherapy in advanced melanoma treatment, reporting no new clinical findings, and emphasizes consensus management to improve patient outcomes.
6 citations
,
February 2013 in “Medical Oncology” In this study, researchers reported that the SHBG +5790 G>A polymorphism was associated with an increased risk of developing resistance to hormonal castration in advanced prostate cancer patients.
11 citations
,
June 2023 in “Journal of Cellular Biochemistry” This study suggests that BRAF inhibitors, particularly Encorafenib and Dabrafenib, may have potential applications in wound healing by targeting specific proteins involved in the healing process in murine models.
8 citations
,
November 2013 in “PLOS ONE” In this study, researchers found that a subset of mammary cells with active Wnt signaling in mice does not develop tumors upon ErbB2 activation and instead undergoes apoptosis, potentially protecting against carcinogenesis.
7 citations
,
January 2014 in “Biological & pharmaceutical bulletin” This study found that rice bran oil extracted by supercritical CO2 can be considered non-genotoxic based on in vitro and in vivo test results, despite some chromosomal aberrations observed under specific conditions.
3 citations
,
January 2011 in “生物医学研究杂志:英文版” In this study, a novel heterozygous transition mutation in the KRT86 gene was identified, which may be pathogenic for monilethrix in a Chinese family.
1 citations
,
December 2015 in “Balkan Journal of Medical Genetics” This study found no significant difference in the prevalence of CYP21A2 mutations between couples with unexplained fertility problems and healthy controls, but identified an association between the c.290-13A/C>G mutation and clinical issues like hormone deviations and polycystic ovary syndrome.
October 2014 in “Cancer research” This study found that targeting mTORC1 with rapamycin effectively inhibited skin tumor promotion in a mouse model, highlighting a potential target for cancer chemoprevention.
April 2010 in “Cancer Research” This study suggests that Mcl-1 has a non-apoptotic role in promoting keratinocyte proliferation and Wnt/β-catenin signaling, potentially indicating a novel oncogenic activity.
October 2024 in “Journal of the Endocrine Society” This study examined uncharacterized CYP21A2 gene variants related to non-classic congenital adrenal hyperplasia and found that several mutations reduce enzyme activity, which may help improve diagnostic and treatment strategies.
June 2026 in “Iraqi Journal of Pharmaceutical Sciences ( P-ISSN 1683 - 3597 E-ISSN 2521 - 3512)” This study observed that while the androgen receptor is expressed in 65.6% of breast cancer patients in Iraq, it is not significantly associated with conventional clinicopathological characteristics, suggesting limited prognostic value.
December 2025 in “International Journal of Surgery” In this study, researchers identified a causal link between Epstein-Barr virus infection and clear cell renal cell carcinoma, highlighting GBP1 as a key target and suggesting finasteride as a potential inhibitor, offering a new direction for treatment strategies.
January 2012 in “Else Kröner-Fresenius Symposia” This symposium reported that DNA damage accumulation in aging stem cells affects genome integrity, highlighting novel mechanisms like Bmi1's role in DNA repair and the involvement of BATF in lymphoid differentiation.
5 citations
,
January 2022 in “Asian Pacific Journal of Cancer Prevention” This study found that the rs2228570 polymorphism of the VDR gene was associated with an increased risk of melanoma, while the rs731236 polymorphism was linked to a protective effect against the disease in Colombian patients.
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.
21 citations
,
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.
99 citations
,
May 2013 in “Familial cancer” This article discusses the pulmonary manifestations of Birt-Hogg-Dubé syndrome, noting diagnostic challenges in differentiating it from other lung conditions, and underlines the need for further research on folliculin's role in cyst formation.