Bladder cancer is often characterized by recurrent and multifocal growth, and tumours are frequently accompanied by precancerous alterations of the surrounding urothelium. These findings have led to the hypothesis that cells from areas of genetically aberrant but morphologically non-cancerous or even unremarkable mucosa may be the source of bladder carcinomas. Fluorescence in situ hybridization (FISH) was performed using ten probes targeting five different chromosomes that are known to be frequently altered in bladder cancer (centromere 1, 8, 9, 11, 17 and 1p36, 8p23, 9p21, 11q13, 17p13) on paraffin-embedded tissue sections of 11 superficial bladder cancers. Copy number changes of the tumours were compared to those in the urothelium adjacent to the tumour. Eleven of 11 (100%) tumours and eight of 11 (73%) samples of adjacent urothelium showed copy number changes of at least one chromosome. The occurrence of similar patterns of chromosomal aberrations in the tumours and their associated urothelium supports the hypothesis of a clonal relationship. It is concluded that FISH analysis targeting five different chromosomes is more sensitive than conventional histology for distinguishing between neoplastic and normal cells of the urothelium.
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http://dx.doi.org/10.1002/path.1175 | DOI Listing |
Facioscapulohumeral muscular dystrophy type 1 (FSHD1) and Becker muscular dystrophy (BMD) are distinct disorders caused by different genetic variations and exhibiting different inheritance patterns. The co-occurrence of both conditions within the same family is rare. In this case report, the proband was a 10 year-old boy who presented with eye and mouth orbicular muscles, shoulder and proximal upper and lower limbs weakness.
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January 2025
Department of Psychiatry and Behavioral Sciences, University of Washington School of Medicine, Seattle, WA, United States.
Introduction: , a protein kinase located on human chromosome 21, plays a role in postembryonic neuronal development and degeneration. Alterations to have been consistently associated with cognitive functioning and neurodevelopmental disorders (e.g.
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January 2025
AO Vector-Best, Novosibirsk, Russia.
Background: Cervical screening, aimed at detecting precancerous lesions and preventing cancer, is based on cytology and HPV testing. Both methods have limitations, the main ones being the variable diagnostic sensitivity of cytology and the moderate specificity of HPV testing. Various molecular biomarkers are proposed in recent years to improve cervical cancer management, including a number of mRNAs encoded by human genes involved in carcinogenesis.
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January 2025
Obstetrics and Prenatal Medicine, Department of Gynecology and Obstetrics, University Hospital Frankfurt, J. W. Goethe-University, Frankfurt, Germany.
The protein regulator of cytokinesis 1 (PRC1) is a key regulator of microtubule crosslinking and bundling, which is crucial for spindle formation and cytokinesis. RITA, the BP-J nteracting and ubulin-ssociated protein, is a microtubule associated protein. We have reported that RITA localizes to mitotic spindles modulating microtubule dynamics and stability as well as to spindle poles affecting the activity of Aurora A.
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January 2025
Oniris, INRAE, BIOEPAR, 44300, Nantes, France.
Background: Ticks, hematophagous Acari, pose a significant threat by transmitting various pathogens to their vertebrate hosts during feeding. Despite advances in tick genomics, high-quality genomes were lacking until recently, particularly in the genus Ixodes, which includes the main vectors of Lyme disease.
Results: Here, we present the genome sequences of four tick species, derived from a single female individual, with a particular focus on the European species Ixodes ricinus, achieving a chromosome-level assembly.
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