63 research outputs found
Electronic structure in underdoped cuprates due to the emergence of a pseudogap
The phenomenological Green's function developed in the works of Yang, Rice
and Zhang has been very successful in understanding many of the anomalous
superconducting properties of the deeply underdoped cuprates. It is based on
considerations of the resonating valence bond spin liquid approximation and is
designed to describe the underdoped regime of the cuprates. Here we emphasize
the region of doping, , just below the quantum critical point at which the
pseudogap develops. In addition to Luttinger hole pockets centered around the
nodal direction, there are electron pockets near the antinodes which are
connected to the hole pockets by gapped bridging contours. We determine the
contours of nearest approach as would be measured in angular resolved
photoemission experiments and emphasize signatures of the Fermi surface
reconstruction from the large Fermi contour of Fermi liquid theory (which
contains hole states) to the Luttinger pocket (which contains hole
states). We find that the quasiparticle effective mass renormalization
increases strongly towards the edge of the Luttinger pockets beyond which it
diverges.Comment: 11 pages, 9 figure
Differences in somatic TP53 mutation type in breast tumors by race and receptor status
Purpose: Somatic driver mutations in TP53 are associated with triple-negative breast cancer (TNBC) and poorer outcomes. Breast cancers in women of African ancestry (AA) are more likely to be TNBC and have somatic TP53 mutations than cancers in non-Hispanic White (NHW) women. Missense driver mutations in TP53 have varied functional impact including loss-of-function (LOF) or gain-of-function (GOF) activity, and dominant negative (DNE) effects. We aimed to determine if there were differences in somatic TP53 mutation types by patient ancestry or TNBC status. Methods: We identified breast cancer datasets with somatic TP53 mutation data, ancestry, age, and hormone receptor status. Mutations were classified for functional impact using published data and type of mutation. We assessed differences using Fisher’s exact test. Results: From 96 breast cancer studies, we identified 2964 women with somatic TP53 mutations: 715 (24.1%) Asian, 258 (8.7%) AA, 1931 (65.2%) NHW, and 60 (2%) Latina. The distribution of TP53 mutation type was similar by ancestry. However, 35.8% of tumors from NHW individuals had GOF mutations compared to 29% from AA individuals (p = 0.04). Mutations with DNE activity were positively associated with TNBC (OR 1.37, p = 0.03) and estrogen receptor (ER) negative status (OR 1.38; p = 0.005). Conclusions: Somatic TP53 mutation types did not differ by ancestry overall, but GOF mutations were more common in NHW women than AA women. ER-negative and TNBC tumors are less likely to have DNE+ TP53 mutations which could reflect biological processes. Larger cohorts and functional studies are needed to further elucidate these findings
Genome-wide association study identifies 30 Loci Associated with Bipolar Disorder
This paper is dedicated to the memory of Psychiatric Genomics Consortium (PGC) founding member and Bipolar disorder working group co-chair Pamela Sklar. We thank the participants who donated their time, experiences and DNA to this research, and to the clinical and scientific teams that worked with them. We are deeply indebted to the investigators who comprise the PGC. The views expressed are those of the authors and not necessarily those of any funding or regulatory body. Analyses were carried out on the NL Genetic Cluster Computer (http://www.geneticcluster.org ) hosted by SURFsara, and the Mount Sinai high performance computing cluster (http://hpc.mssm.edu).Bipolar disorder is a highly heritable psychiatric disorder. We performed a genome-wide association study including 20,352 cases and 31,358 controls of European descent, with follow-up analysis of 822 variants with P<1x10-4 in an additional 9,412 cases and 137,760 controls. Eight of the 19 variants that were genome-wide significant (GWS, p < 5x10-8) in the discovery GWAS were not GWS in the combined analysis, consistent with small effect sizes and limited power but also with genetic heterogeneity. In the combined analysis 30 loci were GWS including 20 novel loci. The significant loci contain genes encoding ion channels, neurotransmitter transporters and synaptic components. Pathway analysis revealed nine significantly enriched gene-sets including regulation of insulin secretion and endocannabinoid signaling. BDI is strongly genetically correlated with schizophrenia, driven by psychosis, whereas BDII is more strongly correlated with major depressive disorder. These findings address key clinical questions and provide potential new biological mechanisms for BD.This work was funded in part by the Brain and Behavior Research Foundation, Stanley Medical Research Institute, University of Michigan, Pritzker Neuropsychiatric Disorders Research Fund L.L.C., Marriot Foundation and the Mayo Clinic Center for Individualized Medicine, the NIMH Intramural Research Program; Canadian Institutes of Health Research; the UK Maudsley NHS Foundation Trust, NIHR, NRS, MRC, Wellcome Trust; European Research Council; German Ministry for Education and Research, German Research Foundation IZKF of Münster, Deutsche Forschungsgemeinschaft, ImmunoSensation, the Dr. Lisa-Oehler Foundation, University of Bonn; the Swiss National Science Foundation; French Foundation FondaMental and ANR; Spanish Ministerio de EconomÃa, CIBERSAM, Industria y Competitividad, European Regional Development Fund (ERDF), Generalitat de Catalunya, EU Horizon 2020 Research and Innovation Programme; BBMRI-NL; South-East Norway Regional Health Authority and Mrs. Throne-Holst; Swedish Research Council, Stockholm County Council, Söderström Foundation; Lundbeck Foundation, Aarhus University; Australia NHMRC, NSW Ministry of Health, Janette M O'Neil and Betty C Lynch
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Fuel debris assessment for Three Mile Island Unit 2 (TMI-2) reactor recovery by gamma-ray and neutron dosimetry
As a result of the accident on March 28, 1979, fuel debris was dispersed into the primary coolant system of the Three Mile Island Unit 2 (TMI-2) reactor. Location and quantification of fuel debris is essential for TMI-2 recovery. TMI-2 fuel debris assessments can be carried out nondestructively by neutron and gamma-ray dosimetry. Efforts to date have been directed toward fuel debris characterization of the makeup and purification demineralizers, will maintain reactor coolant water purity. Two highly specialized dosimetry methods were applied: solid state track recorder (SSTR) neutron dosimetry and continuous gamma-ray spectrometry. The most recent dosimetry results are reviewed and compared. To reduce the intense background radiation from /sup 137/Cs, the Si(Li) detector was surrounded by a 5.5 diameter lead shield 8'' shield in length. The spectral data were used to determine the intensity of the 2.18 MeV gamma ray from the fission product /sup 144/Ce. Assuming this fission product does not migrate out of the fuel, the quantity of /sup 144/Ce is directly related to the quantity of fuel present. Based on the observed source geometry and the measured flux of the /sup 144/Ce 2.18 MeV gamma rays, the fuel content of the A demineralizer was calculated to be 1.3 +- 0.6 Kg. The /sup 137/Cs content was calculated to be 3400 +- 2500 Curies. Both estimates are as of mid-October, 1982. Due to the intense gamma ray fields present near the demineralizers, SSTR neutron dosimeters had to be placed remotely on stringers from outside the cubicle. Background measurements gave a track density of about 5 tracks/cm/sup 2/, whereas baseline measurements in the demineralizer A cubicle was about 10 tracks/cm/sup 2/. This difference is due to room return neutrons. Based on this room return response, the SSTR neutron dosimetry result was 1.7 +- 0.6 kg of fuel in demineralizer A. Consequently the results of SSTR neutron dosimetry and continuous gamma-ray spectrometry are in excellent agreement
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