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Two more families supporting the existence of monogenic spinocerebellar ataxia 48
The reduced penetrance of TBP intermediate alleles and the recently proposed possible digenic TBP/STUB1 inheritance raised questions on the possible mechanism involved opening a debate on the existence of SCA48 a...
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Article
Open AccessSARS-CoV-2 infection as a model to study the effect of cinnamaldehyde as adjuvant therapy for viral pneumonia
The recent pandemic outbursts, due to SARS-CoV-2, have highlighted once more the central role of the inflammatory process in the propagation of viral infection. The main consequence of COVID-19 is the inductio...
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Article
Open AccessManagement of malignant pleural effusion in Italian clinical practice: a nationwide survey
Pleural disease (PD), particularly malignant pleural effusion (MPE), is a common cause of hospital admission and its prevalence is rising worldwide. Recent advances in diagnostic and therapeutic options, such ...
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Article
Open AccessImpact of phospholipase C β1 in glioblastoma: a study on the main mechanisms of tumor aggressiveness
Glioblastoma represents the most lethal brain tumor in adults. Several studies have shown the key role of phospholipase C β1 (PLCβ1) in the regulation of many mechanisms within the central nervous system sugge...
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Article
Open AccessIntron 4–5 hTERT DNA Hypermethylation in Merkel Cell Carcinoma: Frequency, Association with Other Clinico-pathological Features and Prognostic Relevance
Merkel cell carcinoma (MCC) is an aggressive skin tumor with neuroendocrine differentiation, mainly affecting elderly population or immunocompromised individuals. As methylation of the human telomerase reverse...
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Article
Open AccessChromosome X aneusomy and androgen receptor gene copy number aberrations in apocrine carcinoma of the breast
Carcinomas with apocrine differentiation (CAD) of the breast are rare tumours typically presenting high immunohistochemical expression of androgen receptor (AR) which is a target molecule for personalised ther...
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Article
Accurate Detection of Hot-Spot MTOR Somatic Mutations in Archival Surgical Specimens of Focal Cortical Dysplasia by Molecular Inversion Probes
Formalin-fixed, paraffin-embedded brain specimens are a potentially rich resource to identify somatic variants, but their DNA is characterised by low yield and extensive degradation, and matched peripheral sam...
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Article
Open AccessTreatment strategies for asthma: resha** the concept of asthma management
Asthma is a common chronic disease characterized by episodic or persistent respiratory symptoms and airflow limitation. Asthma treatment is based on a stepwise and control-based approach that involves an itera...
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Article
Prognostic impact of intra-field heterogeneity in oral squamous cell carcinoma
Genetic heterogeneity displayed by tumour cells (intratumoural heterogeneity, ITH) represents a diagnostic challenge when assessing tumour mutational profile. In oral squamous cell carcinoma (OSCC), ITH may be...
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Reference Work Entry In depth
Acinic Cell Carcinoma
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Reference Work Entry In depth
Granular Cell Tumor
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Reference Work Entry In depth
Mucoepidermoid Carcinoma of the Breast
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Reference Work Entry In depth
Adenoid Cystic Carcinoma
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Reference Work Entry In depth
Invasive Lobular Carcinoma
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Article
X chromosome gain is related to increased androgen receptor expression in male breast cancer
X chromosome gain has been previously described in male breast cancer (MBC). Androgen receptor (AR) gene is located on X chromosome. The aim of this study was to investigate the role of the X chromosome gain i...
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Living Reference Work Entry In depth
Granular Cell Tumor
-
Living Reference Work Entry In depth
Adenoid Cystic Carcinoma
-
Living Reference Work Entry In depth
Acinic Cell Carcinoma
-
Living Reference Work Entry In depth
Invasive Lobular Carcinoma
-
Living Reference Work Entry In depth
Mucoepidermoid Carcinoma of the Breast
