July 2025 in “Scientific Reports” In this study, researchers identified six novel prognostic biomarkers for bladder cancer and developed a predictive model that effectively stratifies patients into high-risk and low-risk groups based on immune cell infiltration differences and gene expression.
24 citations
,
November 2008 in “Arquivos Brasileiros de Endocrinologia & Metabologia” In this study, mutations in the vitamin D receptor were identified in Brazilian children with rickets and alopecia, leading to impaired receptor activation and reduced 24-hydroxylase expression.
14 citations
,
May 2022 in “Cell Reports” In this study, researchers found that basal cell carcinomas with common Hedgehog signaling mutations may require additional mutations to hyperactivate downstream signaling and progress beyond dormancy.
114 citations
,
July 2003 in “PubMed” This study found that KSR1 is necessary for v-Ha-ras-mediated skin tumor formation but not for MT-driven mammary cancer, indicating its potential as a therapeutic target in Ras/MAPK signaling-related tumors.
1 citations
,
August 2015 in “AACE Clinical Case Reports” This case report identifies a novel AR gene mutation in an adolescent with primary amenorrhea, suggesting that CAIS should be considered when evaluating patients with a female phenotype and breast development.
1 citations
,
September 2023 in “Frontiers in Genetics” This study presents a rare case where a patient with a heterozygous mutation in the HTRA1 gene, typically considered non-pathogenic, exhibited severe symptoms and typical features of CARASIL, expanding the understanding of this condition.
13 citations
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January 2023 in “Annual Review of Cancer Biology” This study suggests that cancer risk may be influenced by the balance of pro- and anti-oncogenic mutants in normal tissues rather than by the total number of mutations.
March 2025 in “MINAR International Journal of Applied Sciences and Technology” This study reviewed evidence on the role of specific genes (FKBP12, SAMAHD1, TRF2, CD155, and GATA3) in predicting how breast cancer patients might respond to adjuvant chemotherapy, aiming to monitor these markers in blood or tissue samples.
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 2012 in “Journal of Clinical Oncology” This study found a significant association between male breast cancers and exposure to finasteride and dutasteride, with an estimated additional case per 564 men taking these drugs.
March 2010 in “Ejc Supplements” This article discusses the paradoxical effects of valproic acid on hair, reporting both drug-induced hair loss and the potential for hair growth when used topically, but presents no original research findings.
11 citations
,
May 2008 in “British journal of dermatology/British journal of dermatology, Supplement” This case report describes a 32-year-old man who developed SCC of the common bile duct a year after receiving treatment for a malignant proliferating trichilemmal tumour on the scalp.
14 citations
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December 1998 in “British Journal of Cancer” This study found that breast carcinomas ectopically express a truncated form of hHb1 mRNA, which is associated with epithelial cell transformation.
1 citations
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August 2019 in “Journal of pediatric & adolescent gynecology” This report describes a novel AR gene mutation in a female patient, contributing to androgen insensitivity syndrome, and emphasizes its potential impact on genetic counseling.
11 citations
,
March 2014 in “Journal of Investigative Dermatology” In this study, basal cell carcinoma developed in Ptch-deficient mice only after chemical treatment, not skin wounding, suggesting a second unknown event is necessary for tumor formation.
July 2016 in “Cancer research” This study found that mutant cells in hair follicles can be tolerated or eliminated by surrounding normal tissue, suggesting the potential for wild-type cells to counteract oncogenic mutations.
16 citations
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January 1998 in “PubMed” This review discusses the genetic and environmental factors involved in the development of skin cancers like squamous cell carcinoma, basal cell carcinoma, and melanoma, but does not report new clinical findings.
37 citations
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November 2017 in “Medical Sciences” This study suggests that melanoma tumor cells exhibit intrinsic plasticity, challenging the applicability of the cancer stem cell model to this malignancy.
This study found that selectively inactivating ribonucleotide excision repair in mouse epidermis leads to DNA damage, keratinocyte intraepithelial neoplasia, and squamous cell carcinoma, indicating a potential tumor-promoting mechanism related to compromised genome maintenance.
23 citations
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January 2014 in “International Journal of Biological Sciences” This study found that African American men with prostate cancer have higher rates of somatic and germline androgen receptor mutations than Caucasian American men, which may contribute to ethnic differences in disease progression and outcomes.
39 citations
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October 2012 in “Familial cancer” This review covers the molecular basis of Birt–Hogg–Dubé syndrome and its implications for potential therapeutic targets, but it does not report new experimental results.
11 citations
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February 1982 in “Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis” This study reports that treatment with X-rays or procarbazine induced dose-dependent mutations in melanocytes in mouse hair follicles, showing similar mutation rates to previous methods.
April 2019 in “Journal of Investigative Dermatology” This study found that Merkel cell carcinoma recurrence risk peaks within the first two years after diagnosis and varies significantly by stage, with immune suppression, age, and male sex also influencing risk.
This study found that CYP21A2 gene mutations are the most common cause of non-classic congenital adrenal hyperplasia, while CYP11B1 mutations are rare and may partially impair enzyme activity.
July 2022 in “Journal of Investigative Dermatology” This study found that the KrasG12D mutation alters ERK signal dynamics in hair follicle stem cells, leading to tissue deformation, and suggests a collective effect of mutant cells is necessary for disruption.
10 citations
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May 2007 in “Oncology Reports” This study found that increased metastatic ability in colorectal cancer in a rat model was linked to changes in expression of multiple genes, including TGF-beta, PDGFb, and Rho B.
January 2025 in “Turkish Journal of Cerebrovascular Diseases” This case report details two consanguineous patients with cerebral autosomal recessive arteriopathy, both having the same HTRA1 gene mutation, but exhibiting different clinical presentations, including one with epileptic seizures and lobar hemorrhages—previously undocumented in this condition.
December 2004 in “SUNScholar (Stellenbosch University)” This study suggests that identified polymorphisms may serve as markers for assessing an individual's risk of developing prostate cancer.
1 citations
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September 2019 in “Steroids” In this study, genetic testing confirmed the diagnosis of Androgen insensitivity syndrome in most CAIS patients in Tunisia and identified two previously unreported mutations in the androgen receptor gene.
June 2026 in “British Journal of Dermatology” In this case report, researchers observed a Slovakian neonate with a rare EGFR genetic mutation who presented with severe neonatal dermatoses, ichthyosis, and multisystem complications, emphasizing the significance of genetic diagnosis for such complex conditions.