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Meenu Madan, Arjun Patel, Kristen Skruber, Dirk Geerts, Deborah A Altomare, Otto Phanstiel Iv
The purpose of this paper was to better understand the role of polyamine transport in pancreatic cancers.This paper identifies potential biomarkers for assessing the relative tumor commitment to polyamine biosynthesis or transport. Cell lines with low polyamine import activity and low ATP13A3 protein levels appear committed to polyamine biosynthesis and required high concentrations of the polyamine biosynthesis inhibitor, difluoromethylornithine (DFMO) to inhibit their growth (e.g., AsPC-1 and Capan 1). In contrast, cell lines with high polyamine import activity and high ATP13A3 protein expression (e...
2016: American Journal of Cancer Research
Valentina Guida, Lorenzo Sinibaldi, Mario Pagnoni, Laura Bernardini, Sara Loddo, Katia Margiotti, Maria Cristina Digilio, Maria Teresa Fadda, Bruno Dallapiccola, Giorgio Iannetti, De Luca Alessandro
Oculo auriculo vertebral spectrum (OAVS; OMIM 164210) is a clinically and genetically heterogeneous disorder originating from an abnormal development of the first and second branchial arches. Main clinical characteristics include defects of the aural, oral, mandibular, and vertebral development. Anomalies of the cardiac, pulmonary, renal, skeletal, and central nervous systems have also been described. We report on a 25-year-old male showing a spectrum of clinical manifestations fitting the OAVS diagnosis: hemifacial microsomia, asymmetric mandibular hypoplasia, preauricular pits and tags, unilateral absence of the auditory meatus, dysgenesis of the inner ear and unilateral microphthalmia...
April 2015: American Journal of Medical Genetics. Part A
Mariska Bierkens, Oscar Krijgsman, Saskia M Wilting, Leontien Bosch, Annelieke Jaspers, Gerrit A Meijer, Chris J L M Meijer, Peter J F Snijders, Bauke Ylstra, Renske D M Steenbergen
Cervical cancer results from persistent infection with high-risk human papillomavirus (hrHPV). Common genetic aberrations in cervical (pre)cancers encompass large genomic regions with numerous genes, hampering identification of driver genes. This study aimed to identify genes functionally involved in HPV-mediated transformation by analysis of focal aberrations (<3 Mb) in high-grade cervical intraepithelial neoplasia (hgCIN). Focal chromosomal aberrations were determined in high-resolution array comparative genomic hybridization data of 60 hgCIN...
January 2013: Genes, Chromosomes & Cancer
Lisa S Weingarten, Hardi Dave, Hongyan Li, Dorota A Crawford
P(5) ATPases (ATP13A1 through ATP13A5) are found in all eukaryotes. They are currently poorly characterized and have unknown substrate specificity. Recent evidence has linked two P(5) ATPases to diseases of the nervous system, suggesting possible importance of these proteins within the nervous system. In this study we determined the relative expression of mouse P5 ATPases in development using quantitative real time PCR. We have shown that ATP13A1 and ATP13A2 were both expressed similarly during development, with the highest expression levels at the peak of neurogenesis...
March 2012: Cellular & Molecular Biology Letters
Patrick J Schultheis, Tamara T Hagen, Kate K O'Toole, Akiko Tachibana, Charles R Burke, Diana L McGill, Gbolahan W Okunade, Gary E Shull
In mammals, the most poorly understood P-type ATPases are those of the P(5) subfamily. To begin characterization of the mammalian P(5)-ATPases, BLAST searches of DNA sequence databases were performed. Five genes were identified in the mouse, human, dog, and rat genomes, and the coding sequences of the mouse genes, termed Atp13a1-Atp13a5, were determined. The intron/exon organization of Atp13a1 differs entirely from those of Atp13a2-5, which are closely related. Amino acid sequence comparisons between the five mouse and two yeast P(5)-ATPases suggest that Atp13a1 is orthologous to the yeast Cod1 gene and that Atp13a2-5 are orthologous to yeast Yor291w...
October 22, 2004: Biochemical and Biophysical Research Communications
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