102 research outputs found
Deletion Breakpoint Analysis in 22q11.2 Deletion Syndrome
No full textConotruncal anomaly face syndrome (CAFS), DiGeorge syndrome (DGS), and velo-cardio-facial syndrome have similar but varying phenotypic spectra, i.e., cardiac defects, abnormal facies, thymic hypoplasia, cleft palate and hypocalcemia, and share deletion of 22q11.2 as a common feature. The aim of this study was to investigate the difference in size of the deletion of the 22q11.2 region between CAFS and DGS. Fifty probands (30 CAFS probands and 20 DGS probands), with a type A1 (3 Mb) deletion were examined by fluorescent in situ hybridization (FISH) using 4 probes of the 22q11.2 region. In this study, we showed that CAFS and DGS which have the type A1 (3 Mb) deletion have the same deletion size and the chromosome breakpoints of CAFS and DGS occurred within two complex repeats, LCR22-2 and LCR22-4, that are 3 Mb apart and that the deletions arose from unequal meiotic recombination events. It is important to determine whether the chromosome breakpoints occur in clustered regions or at random sites of sequence homology, since elucidation of the mechanism in which the deletion generated is necessary
Precise mapping of the EGF receptor gene on the human chromosome 7p12 using an improved fish technique
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Identification of three novel proteins (SGSM1, 2, 3) which modulate small G protein (RAP and RAB)-mediated signaling pathway
No full textAbstractWe report a novel protein family consisting of three members, each of which contains RUN and TBC motifs and appears to be associated with small G protein-mediated signal transduction pathway. We named these proteins as small G protein signaling modulators (SGSM1/2/3). Northern blot analysis revealed that human SGSM2/3 are expressed ubiquitously in various tissues, whereas SGSM1 is expressed mainly in brain, heart, and testis. Mouse possessed the same protein family genes, and the in situ hybridization and immunohistochemical staining of tissue sections revealed that mouse Sgsm1/2/3 are expressed in the neurons of central nervous system, indicating the strong association of Sgsm family with neuronal function. Furthermore, endogenous Sgsm1 protein was localized in the trans-Golgi network of mouse Neuro2a cells by immunofluorescence microscopy. Expression of various cDNA constructs followed by immunoprecipitation assay revealed that human SGSM1/2/3 proteins are coprecipitated with RAP and RAB subfamily members of the small G protein superfamily. Based on these results, we postulated that the SGSM family members function as modulators of the small G protein RAP and RAB-mediated neuronal signal transduction and vesicular transportation pathways
Flow cytometric analysis of the expression of 9A3 antigen, E-cadherin and EGF receptor in TMK-1 stomach cancer cells
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Oligomerization of optineurin and its oxidative stress- or E50K mutation-driven covalent cross-linking: possible relationship with glaucoma pathology.
No full textThe optineurin gene, OPTN, is one of the causative genes of primary open-angle glaucoma. Although oligomerization of optineurin in cultured cells was previously observed by gel filtration analysis and blue native gel electrophoresis (BNE), little is known about the characteristics of optineurin oligomers. Here, we aimed to analyze the oligomeric state of optineurin and factors affecting oligomerization, such as environmental stimuli or mutations in OPTN. Using BNE or immunoprecipitation followed by sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE), we demonstrated that both endogenous and transfected optineurin exist as oligomers, rather than monomers, in NIH3T3 cells. We also applied an in situ proximity ligation assay to visualize the self-interaction of optineurin in fixed HeLaS3 cells and found that the optineurin oligomers were localized diffusely in the cytoplasm. Optineurin oligomers were usually detected as a single band of a size equal to that of the optineurin monomer upon SDS-PAGE, while an additional protein band of a larger size was observed when cells were treated with H2O2. We showed that larger protein complex is optineurin oligomers by immunoprecipitation and termed it covalent optineurin oligomers. In cells expressing OPTN bearing the most common glaucoma-associated mutation, E50K, covalent oligomers were formed even without H2O2 stimulation. Antioxidants inhibited the formation of E50K-induced covalent oligomers to various degrees. A series of truncated constructs of OPTN was used to reveal that covalent oligomers may be optineurin trimers and that the ubiquitin-binding domain is essential for formation of these trimers. Our results indicated that optineurin trimers may be the basic unit of these oligomers. The oligomeric state can be affected by many factors that induce covalent bonds, such as H2O2 or E50K, as demonstrated here; this provides novel insights into the pathogenicity of E50K. Furthermore, regulation of the oligomeric state should be studied in the future
Aspects of quantum entanglement in critical and topologically ordered systems
No full textQuantum entanglement plays an important role in characterizing the property of many-body systems and quantum field theories. In this thesis, we study the quantum entanglement in (1+1)-dimensional critical systems and (2+1)-dimensional topologically ordered phases. For (1+1)-d critical systems, we mainly study the non-equilibrium property of quantum entanglement, by focusing on three interesting cases: (i) the time evolution of entanglement hamiltonian during thermalization of a subsystem after a global quantum quench; (ii) time evolution of entanglement entropy after an inhomogeneous quantum quench; (iii) entanglement negativity evolution after a local quantum quench. For (2+1)-d topologically ordered phases, we use edge theory approach to study the topological entanglement entropy, mutual information and entnanglement negativity of Chern-Simons theories, which are further confirmed based on the surgey approach. In addition, we study the entanglement renormalization of topological insulators, and investigate the geometric and topological properties in the bulk of entanglement renormalization.Submission published under a 24 month embargo labeled 'U of I Access', the embargo will last until 2019-08-01The student, Xueda Wen, accepted the attached license on 2017-07-06 at 09:15.The student, Xueda Wen, submitted this Dissertation for approval on 2017-07-06 at 09:26.This Dissertation was approved for publication on 2017-07-06 at 16:51.DSpace SAF Submission Ingestion Package generated from Vireo submission #11323 on 2017-09-29 at 10:46:45Made available in DSpace on 2017-09-29T17:45:11Z (GMT). No. of bitstreams: 2
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Electromagnetic response of time-reversal breaking metallic phases in two dimensions
No full textWe explore two phases in two-dimensional electron fluids in which the time-reversal symmetry is broken spontaneously by using the method of higher dimensional bosonization. Mean-field calculations show that the order parameter is two two-component real vectors [Sun and Fradkin 2008]. There are two phases: the beta phase in which the two order parameters are perpendicular and the alpha phase in which they are parallel. This beta phase exhibits nonvanishing un-quantized anomalous Hall effect in the absence of external magnetic fields, which corresponds to the Berry curvature on the Fermi surface. The alpha phase does not have that property. To go beyond the mean-field, we introduce the machinery of higher dimensional bosonization. Our preliminary results show that in the mean field limit of the bosonized theory, the fluid spontaneously transforms into the time-reversal broken phase. It is evident from the result that the critical point we have is similar to that of Pomeranchuk instability. The quartic term in the dispersion expansion needed to be introduced to stabilize the theory. The correction coming from the higher order terms introduces the coupling to the curvature of the Fermi surfaces. The beta phase in the bosonized picture is not correct so we go back to the fermionic theory and integrate out the fermions in the symmetric phase directly to achieve an effective action. Finally, the full response polarization tensor is derived and its Ward identity is shown to be obeyed.Submission published under a 24 month embargo labeled 'Closed Access', the embargo will last until 2018-12-01The student, Wathid Assawasunthonnet, accepted the attached license on 2016-12-01 at 09:51.The student, Wathid Assawasunthonnet, submitted this Dissertation for approval on 2016-12-01 at 10:01.This Dissertation was approved for publication on 2016-12-02 at 09:16.DSpace SAF Submission Ingestion Package generated from Vireo submission #10392 on 2017-02-28 at 14:42:42Made available in DSpace on 2017-03-01T17:01:51Z (GMT). No. of bitstreams: 3
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