33 research outputs found

    Disease-only alleles at the extreme ends of the human ZMYM3 exceptionally long 5� UTR short tandem repeat in bipolar disorder: A pilot study

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    Objective: The X-linked ZMYM3 gene (also known as ZNF261) contains the longest STR, (GA)32, identified in a human protein-coding gene 5�UTR (ENST00000373998.5: ZMYM3-207). This STR reaches maximum length in human, and is located in a complex string of four consecutive GA-STRs with a human-specific formula across the complex. A previous study in Iranian male schizophrenia (SCZ) patients revealed co-occurrence of the extreme short and long alleles of the STR with SCZ. Here we studied the allelic distribution of this STR in bipolar disorder (BD) type I. The interval encompassing the human ZMYM3 STR complex was PCR-amplified and sequenced in 546 male subjects, consisting of 157 BD patients and 389 controls. Results: We found three alleles at the extreme short (17-repeat) and long (38- and 43-repeat) ends of the allele distribution curve in the BD cases (4.4 of the BD alleles) that were not detected in the controls (Mid p < 0.0001). These alleles overlapped with the extreme disease-only alleles detected previously in the SCZ patients. Domain reconstruction of the GA-STR complex revealed significant structural alteration as a result of various sequence repeats and nucleotide compositions at the inter and intraspecies levels. Conclusion: The ZMYM3 �exceptionally long� 5� UTR STR findings may alter our perspective of disease pathogenesis in psychiatric disorders, and set an example in which the low frequency alleles at the extreme short and long ends of the human STRs are, at least in part, a result of natural selection against these alleles and their unambiguous link to major human disorders. © 201

    The Origins of Chemomechanical Effects in the Low-Load Indentation Hardness and Tribology of Ceramic Materials

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    We have used high-resolution techniques (nanoindentation, atomic force microscopy) to further isolate and identify environmental effects previously reported as possibly affecting both the microindentation response of a range of ceramic materials and their tribological behaviour. In order to make meaningful comparisons, these new experiments have been conducted alongside conventional Knoop and Vickers microhardness experiments conducted under identical conditions on the same samples. A range of polycrystalline, single crystal and amorphous ceramic materials have been studied including some only available as coatings. Our results show that thin adsorbate-modified layers (of dimensions ~1nm) are almost invariably present on all the materials studied but their presence is not directly identifiable by nanoindentation in most cases even if it does affect friction response. However, in crystalline materials, (1012 sapphire and ZnO), we have been able to distinguish a further softening effect seen as a thicker layer (tens of nm) and believed associated with an adsorption-induced near-surface band-structure change affecting the motion of charged dislocations. This produces a measurable softening that is clearly evident in nanoindentation tests but less clear in microindentation tests. Finally, we present conclusions on the suitability of indentation testing for studying these phenomena, together with the implications of chemomechanical effects for influencing tribological performance and, thus, materials selection

    Enhancement of NMRI Mouse Embryo Development In vitro

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    Most of the systematic studies used in the development of human embryo culture media have been done first on mouse embryos. The general use of NMRI outbred mice is a model for toxicology, teratology and pharmacology. NMRI mouse embryo exhibit the two-cell block in vitro. The objective of this study was to evaluate and compare the effects of four kinds of culture media on the development of zygotes (NMRI) after embryo vitrification. One-cell mouse embryos were obtained from NMRI mice after superovulation and mating with adult male NMRI mice. And then randomly divided into 4 groups for culture in four different cultures media including: M16 (A), DMEM/Ham, F-12 (B), DMEM/Ham's F-12 co-culture with Vero cells(C) and DMEM/Ham's F-12 co-culture with MEF cells (D). Afterward all of the embryos were vitrified in EFS40 solution and collected. Results of our study revealed, more blastocysts significantly were developed with co-culture with MEF cells in DMEM/Ham's F-12 medium. More research needed to understand the effect of other components of culture medium, and co-culture on NMRI embryo development

    Expression analysis of apoptosis-related genes in bladder cancer patients

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    Background: Bladder cancer (BC) is a frequent cancer with high morbidity and mortality. Method: We assessed expression of NMP22, BAG3, BCL2 and BAX in BC samples, adjacent non-neoplastic tissues (ANNTs), urinary cell pellets (UCP) of the same patients and non-malignant conditions (NM). Results: NMP22 was up-regulated in tumoral tissues compared with ANNTs and in UCP of BC patients compared with UCP of NM. BCL2 and BAX were down-regulated in BC tissues compared with ANNTs. BAG3 and BAX were down-regulated in UCP of BC compared with NM. The combination of all four genes had 100 sensitivity and specificity for detection of BC in urine. Conclusion: Expression analysis of these genes in tumor or urine is a tool for detection of BC. © 201
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