Search results for "DUP"

Healthy 12-year-old boy with mosaic inv dup(15)(q13)

2006

Screening for microdeletions of the X-chromosome in non-specific mental retardation

2003

Impact of oxygenation status and patient age on DNA content in cancers of the uterine cervix.

2003

Abstract Purpose In carcinomas of the uterine cervix, the tumor oxygenation status has been shown to be a prognostic indicator that is independent of treatment modality. In vitro studies suggest gene amplification and polyploidization to be among the major consequences of hypoxia (with or without consecutive reoxygenation) and to be associated with treatment resistance and tumor progression. This study analyzed whether hypoxia alters net DNA content in uterine cervix cancer cells to the extent that it is identifiable by DNA image cytometry. Methods and materials In 64 patients with primary cervical cancer, tumor oxygenation was assessed polarographically and correlated with cell DNA content…

Bypass of cell cycle arrest induced by transient DNMT1 post-transcriptional silencing triggers aneuploidy in human cells

2012

Abstract Background Aneuploidy has been acknowledged as a major source of genomic instability in cancer, and it is often considered the result of chromosome segregation errors including those caused by defects in genes controlling the mitotic spindle assembly, centrosome duplication and cell-cycle checkpoints. Aneuploidy and chromosomal instability has been also correlated with epigenetic alteration, however the molecular basis of this correlation is poorly understood. Results To address the functional connection existing between epigenetic changes and aneuploidy, we used RNA-interference to silence the DNMT1 gene, encoding for a highly conserved member of the DNA methyl-transferases. DNMT1…

7E olfactory receptor gene clusters and evolutionary chromosome rearrangements

2005

Olfactory receptor (OR) genes of the 7E subfamily have been duplicated to multiple regions throughout the human genome. Segmental duplications containing 7E OR genes have been associated with both pathological and evolutionary chromosome rearrangements. Many of these breakpoint regions coincide with breaks of chromosomal synteny in the mouse, rat and/or chicken genomes. Collectively, these data suggest that 7E OR-containing regions represent hot spots of genomic instability.    

The Role of Ancestral Duplicated Genes in Adaptation to Growth on Lactate, a Non-Fermentable Carbon Source for the Yeast Saccharomyces cerevisiae

2021

This article belongs to the Section Molecular Informatics.

4p16.1-p15.31 duplication and 4p terminal deletion in a 3-years old Chinese girl: Array-CGH, genotype-phenotype and neurological characterization

2014

Abstract Background Microscopically chromosome rearrangements of the short arm of chromosome 4 include the two known clinical entities: partial trisomy 4p and deletions of the Wolf-Hirschhorn critical regions 1 and 2 (WHSCR-1 and WHSCR-2, respectively), which cause cranio-facial anomalies, congenital malformations and developmental delay/intellectual disability. Methods/results We report on clinical findings detected in a Chinese patient with a de novo 4p16.1-p15.32 duplication in association with a subtle 4p terminal deletion of 6 Mb in size. This unusual chromosome imbalance resulted in WHS classical phenotype, while clinical manifestations of 4p trisomy were practically absent. Conclusio…

Diagnostik und konservative Therapie der peripheren arteriellen Verschlusskrankheit (PAVK)

2014

Die periphere arterielle Verschlusskrankheit (PAVK) hat eine hohe Pravalenz. Patienten mit PAVK haben ein hohes Risiko fur kardiovaskulare Ereignisse. Ein Screening von Risikopersonen durch Ermittlung des Knochel-Arm-Index erscheint daher wichtig. Die zentrale Methode in der angiologischen Diagnostik ist die Duplexsonografie. Zur Beurteilung des Kompensationsgrads und zur Therapieplanung eignen sich erganzend funktionelle Untersuchungsmethoden wie beispielsweise die Laufbandergometrie. In der konservativen Therapie ist die konsequente Einstellung der kardiovaskularen Risikofaktoren wichtig. Patienten mit Claudicatio intermittens sollten zu konsequentem, strukturiertem Gehtraining angehalten…

Handover and Uplink Power Control Performance in the 3.84 Mcps TDD mode of UTRA Network

2003

In this article we consider the performance of the 3.84 Mcps time-division duplex (TDD) mode of UTRA (Universal Terrestrial Radio Access) network. We emphasize two of the radio resource management algorithms, handover and uplink power control, whose role in the overall system performance is studied extensively. First, a handover algorithm used in WCDMA (Wideband Code Division Multiple Access) standard is considered in a TDD-mode operation. This gives rise to a careful setting of different handover parameters, and the evaluation of the effects to the system performance. Secondly, the specified uplink power control algorithm is considered. Since it is based on several user-made measurements w…

Parallel macro pipelining on the intel SCC many-core computer

2013

In this paper we present how Intel's Single-Chip-Cloud processor behaves for parallel macro pipeline applications. Subsets of the SCC's available cores can be arranged as a pipeline where each core processes one stage of the overall workload. Each of the independent cores processes a small part of a larger task and feeds the following core with new data after it finishes its work. Our case-study is a parallel rendering system which renders successive images and applies different filters on them. On normal graphics adapters this is usually done in multiple cycles, we do this in a single pipeline pass. We show that we can achieve a significant speedup by using multiple parallel pipelines on t…