-
J A Badner, D Koller,
T Foroud,
H Edenberg,
J I Nurnberger,
P P Zandi,
V L Willour,
F J McMahon,
J B Potash,
M Hamshere, [......],
M Ayub,
A MacLean,
D Blackwood,
C-Y Liu,
E S Gershon,
W McMahon,
G J Lyon,
R Robinson,
J Ross,
W Byerley
[show abstract]
[hide abstract]
ABSTRACT: Because of the high costs associated with ascertainment of families, most linkage studies of Bipolar I disorder (BPI) have used relatively small samples. Moreover, the genetic information content reported in most studies has been less than 0.6. Although microsatellite markers spaced every 10 cM typically extract most of the genetic information content for larger multiplex families, they can be less informative for smaller pedigrees especially for affected sib pair kindreds. For these reasons we collaborated to pool family resources and carried out higher density genotyping. Approximately 1100 pedigrees of European ancestry were initially selected for study and were genotyped by the Center for Inherited Disease Research using the Illumina Linkage Panel 12 set of 6090 single-nucleotide polymorphisms. Of the ~1100 families, 972 were informative for further analyses, and mean information content was 0.86 after pruning for linkage disequilibrium. The 972 kindreds include 2284 cases of BPI disorder, 498 individuals with bipolar II disorder (BPII) and 702 subjects with recurrent major depression. Three affection status models (ASMs) were considered: ASM1 (BPI and schizoaffective disorder, BP cases (SABP) only), ASM2 (ASM1 cases plus BPII) and ASM3 (ASM2 cases plus recurrent major depression). Both parametric and non-parametric linkage methods were carried out. The strongest findings occurred at 6q21 (non-parametric pairs LOD 3.4 for rs1046943 at 119 cM) and 9q21 (non-parametric pairs logarithm of odds (LOD) 3.4 for rs722642 at 78 cM) using only BPI and schizoaffective (SA), BP cases. Both results met genome-wide significant criteria, although neither was significant after correction for multiple analyses. We also inspected parametric scores for the larger multiplex families to identify possible rare susceptibility loci. In this analysis, we observed 59 parametric LODs of 2 or greater, many of which are likely to be close to maximum possible scores. Although some linkage findings may be false positives, the results could help prioritize the search for rare variants using whole exome or genome sequencing.
Molecular psychiatry 07/2011; 17(8):818-26. · 15.05 Impact Factor
-
[show abstract]
[hide abstract]
ABSTRACT: We review the principle and methodology of leakage radiation microscopy (LRM) applied to surface plasmon polaritons (SPPs). Therefore we first analyze in detail the electromagnetic theory of leaky SPP waves. We show that LRM is a versatile optical far-field method allowing direct quantitative imaging and analysis of SPP propagation on thin metal films. We illustrate the LRM potentiality by analyzing the propagation of SPP waves interacting with several two-dimensional plasmonic devices realized and studied in the recent years.
Materials Science and Engineering: B. 02/2010;
-
D Zhang,
L Cheng,
Y Qian,
N Alliey-Rodriguez,
J R Kelsoe,
T Greenwood,
C Nievergelt,
T B Barrett,
R McKinney,
N Schork, [......],
P L Belmonte,
P P Zandi,
M G McInnis,
S Zöllner,
D Craig,
S Szelinger, D Koller,
S L Christian,
C Liu,
E S Gershon
[show abstract]
[hide abstract]
ABSTRACT: An overall burden of rare structural genomic variants has not been reported in bipolar disorder (BD), although there have been reports of cases with microduplication and microdeletion. Here, we present a genome-wide copy number variant (CNV) survey of 1001 cases and 1034 controls using the Affymetrix single nucleotide polymorphism (SNP) 6.0 SNP and CNV platform. Singleton deletions (deletions that appear only once in the dataset) more than 100 kb in length are present in 16.2% of BD cases in contrast to 12.3% of controls (permutation P=0.007). This effect was more pronounced for age at onset of mania <or=18 years old. Our results strongly suggest that BD can result from the effects of multiple rare structural variants.
Molecular psychiatry 01/2009; 14(4):376-80. · 15.05 Impact Factor
-
[show abstract]
[hide abstract]
ABSTRACT: Animal studies suggest that arachidonate 5-lipoxygenase (encoded by ALOX5) may be a genetic determinant of bone mineral density. We tested this hypothesis in a sample of healthy men and women and did not find consistent evidence for an association between variation in this gene and either lumbar spine or femoral neck BMD.
Phenotypic variation in bone mineral density (BMD) among healthy adults is influenced by both genetic and environmental factors. A recent mouse study implicated ALOX5, which encodes arachidonate 5-lipoxygenase, as a contributing factor to areal BMD (aBMD).
Fifteen single nucleotide polymorphisms (SNPs) distributed throughout ALOX5 were genotyped in three healthy groups: 1,688 European American, premenopausal sisters, 512 African American premenopausal sisters and 715 European American brothers. Statistical analyses were performed in the three groups to test for association between these SNPs and femoral neck and lumbar spine aBMD.
Significant (p < or = 0.05) evidence of association was observed with three of the SNPs. However, despite the linkage disequilibrium between SNPs, adjacent SNPs did not provide statistical evidence of association in any of the three study groups.
These data do not provide consistent evidence of association between genomic variation in ALOX5 and clinical variability in aBMD in healthy subjects.
Osteoporosis International 06/2008; 19(5):637-43. · 4.58 Impact Factor
-
[show abstract]
[hide abstract]
ABSTRACT: Supercurrent suppression by the injection of spin-polarized quasiparticle current from a ferromagnet into a superconductor is demonstrated in YBa <sub> 2 </sub> Cu <sub> 3 </sub> O <sub> 7-δ </sub> /SrTiO <sub> 3 </sub> /La <sub> 0.7 </sub> Sr <sub> 0.3 </sub> MnO <sub> 3-δ </sub> junctions at 77 K. Negative current gains as large as 35 have been observed. The magnitude of the effect depends on the net polarization of the injection current, film resistivities, barrier microstructure, and injection geometry. Fabrication of the junctions is discussed in terms of optimizing these parameters for maximum supercurrent suppression. © 1998 American Institute of Physics.
Journal of Applied Physics 07/1998; · 2.17 Impact Factor
-
V. M. Browning,
R. M. Stroud,
W. W. Fuller-Mora,
J. M. Byers,
M. S. Osofsky,
D. L. Knies,
K. S. Grabowski, D. Koller,
J. Kim,
D. B. Chrisey,
J. S. Horwitz
[show abstract]
[hide abstract]
ABSTRACT: Magnetization and resistivity measurements are reported for a series of radiation damaged La <sub> 0.7 </sub> Ca <sub> 0.3 </sub> MnO <sub> 3 </sub> pulsed laser deposited thin films. When plotted as a function of activation energy, trends in the electrical transport properties are similar to those exhibited in the magnetic properties. A sharp drop in both T<sub>c</sub> and T<sub>p</sub> in samples with activation energies greater than ∼110 meV suggests a “decoupling” of the magnetic and transport properties. The results suggest the magnetic order is no longer sufficient to delocalize the system of the extra disorder induced by the radiation damage.
Journal of Applied Physics 07/1998; · 2.17 Impact Factor
-
[show abstract]
[hide abstract]
ABSTRACT: An autosomal dominant presenile dementia affecting 39 individuals in a seven-generation, 383-member pedigree has been studied at Indiana University. In the affected members of this family, clinical symptoms occurred early in life, with an average age at onset of 48.8 years. The presenting clinical features include disequilibrium, neck stiffness, dysphagia, and memory loss. As the disease progresses, further cognitive decline, superior-gaze palsy, and dystaxia also are observed. The average duration from onset of symptoms to death is approximately 10 years. Neuropathologic studies of nine affected individuals showed neuronal loss in several areas of the CNS, as well as argentophilic tau-immunopositive inclusions in neurons and in oligodendroglia. A limited genomic screen by use of DNA samples from 28 family members localized the gene for this disorder to a 3-cM region on chromosome 17, between the markers THRA1 and D17S791. The gene for tau also was analyzed, through samples from the family.
The American Journal of Human Genetics 12/1997; 61(5):1131-8. · 10.60 Impact Factor
-
[show abstract]
[hide abstract]
ABSTRACT: Pulsed laser deposition (PLD) is currently being used to deposit a variety of multicomponent electronic ceramic thin films as a materials research tool for the development of next generation electronic devices. Examples include YBa2Cu3O7−δ/ferromagnetic multilayers, ferroelectrics and rare earth doped manganite thin films. In YBa2Cu3O7−δ/ferromagnetic multilayers, the injection of spin-polarized electrons from the ferromagnetic material into the superconductor produces a local reduction in the superconducting order parameter. This effect is being used to develop HTS-based digital logic. The electric field effect in SrxBa(1−x)TiO3 thin films is being used to develop tunable microwave circuits. A 4 : 1 change in the dielectric constant has been observed for fields ≤80 kV/cm. Microstructural defects associated with cation and anion vacancies have been observed in SrxBa(1−x)TiO3 films. These defects have been correlated with dielectric loss and can be reduced by the use of a compensated targets and a post-deposition anneal of the deposited films. A large temperature coefficient of resistance (TCR) has been observed in rare earth doped manganite thin films. A TCR as large as ∼30% has been observed for well annealed La0.67Ca0.33MnOδ thin films. These materials can be used to increase the sensitivity of uncooled IR focal plane arrays by more than an order of magnitude making them comparable to HgCdTe detectors. This paper presents the advances in thin film processing and the importance of PLD as a tool for research in the physics of thin films, materials science and the fabrication of devices based on electronic ceramics.
Applied Surface Science.
-
- 83.
-
[show abstract]
[hide abstract]
ABSTRACT: The relativistic two-body problem in a constant magnetic field B of arbitrary strenght is elaborated. A new spin operator quadratic in B is derived and a change of sign in a relativistic Zeeman correction is pointed out.
Physics Letters A.
