495 research outputs found
Loss of heterozygosity at chromosome 11 in breast cancer: association of prognostic factors with genetic alterations.
We examined DNA from 116 female and four male breast cancer patients for loss of heterozygosity (LOH). DNA was analysed by polymerase chain reaction using ten microsatellite markers on chromosome 11. Three distinct regions of LOH were identified: 11p15.5, 11q13 and 11q22-qter with a LOH frequency of 19, 23 and 37-43% respectively. The marker D11S969 showing the highest frequency of LOH (43%) is located at the 11q24.1-q25 region. No previous molecular genetic studies have shown frequent LOH at the region telomeric to q23 on chromosome 11. Southern analysis revealed that LOH at 11q13 was due to amplification, whereas LOH at 11q22qter was due to deletion. LOH at 11p15.5 was associated with paucity of hormone receptor proteins, high S-phase and positive node status. An association was found between LOH at 11q13 and positive node status. LOH at the 11q22-qter region correlated with a high S-phase fraction. A significant association was found between LOH at 11p15 and chromosome regions 17q21 (the BRCA1 region) and 3p
Chromosome alterations and E-cadherin gene mutations in human lobular breast cancer
We have studied a set of 40 human lobular breast cancers for loss of heterozygosity (LOH) at various chromosome locations and for mutations in the coding region plus flanking intron sequences of the E-cadherin gene. We found a high frequency of LOH (100%, 31/31) at 16q21–q22.1. A significantly higher level of LOH was detected in ductal breast tumours at chromosome arms 1p, 3p, 9p, 11q, 13q and 18q compared to lobular breast tumours. Furthermore, we found a significant association between LOH at 16 q containing the E-cadherin locus and lobular histological type. Six different somatic mutations were detected in the E-cadherin gene, of which three were insertions, two deletions and one splice site mutation. Mutations were found in combination with LOH of the wild type E-cadherin locus and loss of or reduced E-cadherin expression detected by immunohistochemistry. The mutations described here have not previously been reported. We compared LOH at different chromosome regions with E-cadherin gene mutations and found a significant association between LOH at 13 q and E-cadherin gene mutations. A significant association was also detected between LOH at 13q and LOH at 7q and 11q. Moreover, we found a significant association between LOH at 3 p and high S phase, LOH at 9p and low ER and PgR content, LOH at 17p and aneuploidy. We conclude that LOH at 16q is the most frequent chromosome alteration and E-cadherin is a typical tumour suppressor gene in lobular breast cancer. © 1999 Cancer Research Campaig
The association between hip fracture and hip osteoarthritis: A case-control study
<p>Abstract</p> <p>Background</p> <p>There have been reports both supporting and refuting an inverse relationship between hip fracture and hip osteoarthritis (OA). We explore this relationship using a case-control study design.</p> <p>Methods</p> <p>Exclusion criteria were previous hip fracture (same side or contralateral side), age younger than 60 years, foreign nationality, pathological fracture, rheumatoid arthritis and cases were radiographic examinations were not found in the archives. We studied all subjects with hip fracture that remained after the exclusion process that were treated at Akureyri University Hospital, Iceland 1990-2008, n = 562 (74% women). Hip fracture cases were compared with a cohort of subjects with colon radiographs, n = 803 (54% women) to determine expected population prevalence of hip OA. Presence of radiographic hip OA was defined as a minimum joint space of 2.5 mm or less on an anteroposterior radiograph, or Kellgren and Lawrence grade 2 or higher. Possible causes of secondary osteoporosis were identified by review of medical records.</p> <p>Results</p> <p>The age-adjusted odds ratio (OR) for subjects with hip fracture having radiographic hip OA was 0.30 (95% confidence interval [95% CI] 0.12-0.74) for men and 0.33 (95% CI 0.19-0.58) for women, compared to controls. The probability for subjects with hip fracture and hip OA having a secondary cause of osteoporosis was three times higher than for subjects with hip fracture without hip OA.</p> <p>Conclusion</p> <p>The results of our study support an inverse relationship between hip fractures and hip OA.</p
Low frequency 1/f noise in doped manganite grain-boundary junctions
We have performed a systematic analysis of the low frequency 1/f-noise in
single grain boundary junctions in the colossal magnetoresistance material
La_{2/3}Ca_{1/3}MnO_{3-delta}. The grain boundary junctions were formed in
epitaxial La_{2/3}Ca_{1/3}MnO_{3-delta} films deposited on SrTiO_3 bicrystal
substrates and show a large tunneling magnetoresistance of up to 300% at 4.2 K
as well as ideal, rectangular shaped resistance versus applied magnetic field
curves. Below the Curie temperature T_C the measured 1/f noise is dominated by
the grain boundary. The dependence of the noise on bias current, temperature
and applied magnetic field gives clear evidence that the large amount of low
frequency noise is caused by localized sites with fluctuating magnetic moments
in a heavily disordered grain boundary region. At 4.2 K additional temporally
unstable Lorentzian components show up in the noise spectra that are most
likely caused by fluctuating clusters of interacting magnetic moments. Noise
due to fluctuating domains in the junction electrodes is found to play no
significant role.Comment: 9 pages, 7 figure
Conditional statistics of electron transport in interacting nanoscale conductors
Interactions between nanoscale semiconductor structures form the basis for
charge detectors in the solid state. Recent experimental advances have
demonstrated the on-chip detection of single electron transport through a
quantum dot (QD). The discreteness of charge in units of e leads to intrinsic
fluctuations in the electrical current, known as shot noise. To measure these
single-electron fluctuations a nearby coherent conductor, called a quantum
point contact (QPC), interacts with the QD and acts as a detector. An important
property of the QPC charge detector is noninvasiveness: the system physically
affects the detector, not visa-versa. Here we predict that even for ideal
noninvasive detectors such as the QPC, when a particular detector result is
observed, the system suffers an informational backaction, radically altering
the statistics of transport through the QD as compared to the unconditional
shot noise. We develop a theoretical model to make predictions about the joint
current probability distributions and conditional transport statistics. The
experimental findings reported here demonstrate the reality of informational
backaction in nanoscale systems as well as a variety of new effects, such as
conditional noise enhancement, which are in essentially perfect agreement with
our model calculations. This type of switching telegraph process occurs
abundantly in nature, indicating that these results are applicable to a wide
variety of systems.Comment: 16 pages, 3 figures, to appear in Nature Physic
Sequence variants in the PTCH1 gene associate with spine bone mineral density and osteoporotic fractures
Bone mineral density (BMD) is a measure of osteoporosis and is useful in evaluating the risk of fracture. In a genome-wide association study of BMD among 20,100 Icelanders, with follow-up in 10,091 subjects of European and East-Asian descent, we found a new BMD locus that harbours the PTCH1 gene, represented by rs28377268 (freq. 11.4–22.6%) that associates with reduced spine BMD (P=1.0 × 10−11, β=−0.09). We also identified a new spine BMD signal in RSPO3, rs577721086 (freq. 6.8%), that associates with increased spine BMD (P=6.6 × 10−10, β=0.14). Importantly, both variants associate with osteoporotic fractures and affect expression of the PTCH1 and RSPO3 genes that is in line with their influence on BMD and known biological function of these genes. Additional new BMD signals were also found at the AXIN1 and SOST loci and a new lead SNP at the EN1 locus
Photoluminescence study of Si<sub>1-x</sub>Ge<sub>x</sub> nanoparticles in various oxide matrices
We investigate the photoluminescence properties of structures comprising of Si1-xGex nanoparticles (NPs) within SiO2, GeO2, TiO2 and Ta2O5 oxide matrices. Of the investigated structures, it was observed that the structures with GeO2 and TiO2 matrices provide increased spectral response (at ~907 and 844 nm respectively) and increased PL intensity. The improved PL characteristic have been attributed to increased diffusion barrier against oxygen which otherwise would result in formation of unwanted oxide at the film-oxide interface, thereby deteriorating the optical properties.This work is partially funded by the Icelandic Research Fund Grants nos. 218029 and 196141.Pre-print (óritrýnt handrit
Structural and magnetic changes in CoAlZr thin films upon post annealing
We present a study of the effect of
annealing amorphous ferromagnetic thin films of
Co0.85(Al0.7Zr0.3)0.15, post deposition. The annealing was
done in vacuum with no applied magnetic field. We find
that already at a relatively low annealing temperature
of 130 ◦C there is crystallite formation that introduces
both structural and magnetic inhomogeneity. This does not
affect the saturation magnetization strongly, but strongly
affects the switching behavior and the overall effective
anisotropy of the films. Further, there is a dramatic
increase in magnetization damping. Thus, the annealing
has a profound effect on both static and dynamic magnetic
properties of the material. This is important to keep in
mind for potential applications using these materials.Icelandic Research Fund Grants No. 228951, 218029 and 217843.Peer Reviewe
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