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Journal articles on the topic 'EBF3'

Author: Grafiati

Published: 4 June 2021

Last updated: 1 February 2022

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1

Jiménez de la Peña, Mar, Ana Jiménez de Domingo, Pilar Tirado, Beatriz Calleja-Pérez, Luis A. Alcaraz, Sara Álvarez, Jonathan Williams, James R. Hagman, Andrea H. Németh, and Alberto Fernández-Jaén. "Neuroimaging Findings in Patients with EBF3 Mutations: Report of Two Cases." Molecular Syndromology 12, no. 3 (2021): 186–93. http://dx.doi.org/10.1159/000513583.

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Early B cell factor 3 (EBF3) is a transcription factor involved in brain development. Heterozygous, loss-of-function mutations in <i>EBF3</i> have been reported in an autosomal dominant neurodevelopmental syndrome characterized by hypotonia, ataxia, and developmental delay (sometimes described as “HADD”s). We report 2 unrelated cases with novel de novo <i>EBF3</i> mutations: c.455G>T (p.Arg152Leu) and c.962dup (p.Tyr321*) to expand the genotype/phenotype correlations of this disorder; clinical, neuropsychological, and MRI studies were used to define the phenotype. IQ was in the normal range and diffusion tensor imaging revealed asymmetric alterations of the longitudinal fasciculus in both cases. Our results demonstrate that <i>EBF3</i> mutations can underlie neurodevelopmental disorders without intellectual disability. Long tract abnormalities have not been previously recognized and suggest that they may be an unrecognized and characteristic feature in this syndrome.

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2

D'Arrigo, Stefano, Marco Moscatelli, Claudia Ciaccio, Chiara Pantaleoni, Raffaele Castello, and Luisa Chiapparini. "Abnormal cerebellar foliation in EBF3 mutation." Neurology 94, no. 21 (May 4, 2020): 933–35. http://dx.doi.org/10.1212/wnl.0000000000009486.

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3

Panin, Alexey, Marina Kazachenok, Olga Perevalova, Sergey Martynov, Alexandra Panina, and Elena Sklyarova. "Continuous Electron Beam Post-Treatment of EBF3-Fabricated Ti–6Al–4V Parts." Metals 9, no. 6 (June 21, 2019): 699. http://dx.doi.org/10.3390/met9060699.

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In the present study, the methods of optical, scanning electron, and transmission electron microscopy as well as X-ray diffraction analysis gained insights into the mechanisms of surface finish and microstructure formation of Ti–6Al–4V parts during an EBF3-process. It was found that the slip band propagation within the outermost surface layer provided dissipation of the stored strain energy associated with martensitic transformations. The latter caused the lath fragmentation as well as precipitation of nanosized β grains and an orthorhombic martensite α″ phase at the secondary α lath boundaries of as-built Ti–6Al–4V parts. The effect of continuous electron beam post-treatment on the surface finish, microstructure, and mechanical properties of EBF3-fabricated Ti–6Al–4V parts was revealed. The brittle outermost surface layer of the EBF3-fabricated samples was melted upon the treatment, resulting in the formation of equiaxial prior β grains of 20 to 30 μm in size with the fragmented acicular α′ phase. Electron-beam irradiation induced transformations within the 70 μm thick molten surface layer and 500 μm thick heat affected zone significantly increased the Vickers microhardness and tensile strength of the EBF3-fabricated Ti–6Al–4V samples.

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4

Yin, Yajun, Wei Duan, Kai Wu, Yangdong Li, Jianxin Zhou, Xu Shen, and Min Wang. "Temperature distribution simulations during electron beam freeform fabrication process based on the fully threaded tree." Rapid Prototyping Journal 25, no. 6 (July 8, 2019): 989–97. http://dx.doi.org/10.1108/rpj-12-2016-0211.

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Purpose The purpose of this study is to simulate the temperature distribution during an electron beam freeform fabrication (EBF3) process based on a fully threaded tree (FTT) technique in various scales and to analyze the temperature variation with time in different regions of the part. Design/methodology/approach This study presented a revised model for the temperature simulation in the EBF3 process. The FTT technique was then adopted as an adaptive grid strategy in the simulation. Based on the simulation results, an analysis regarding the temperature distribution of a circular deposit and substrate was performed. Findings The FTT technique was successfully adopted in the simulation of the temperature field during the EBF3 process. The temperature bands and oscillating temperature curves appeared in the deposit and substrate. Originality/value The FTT technique was introduced into the numerical simulation of an additive manufacturing process. The efficiency of the process was improved, and the FTT technique was convenient for the 3D simulations and multi-pass deposits.

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5

Wu, Chao, Zujin Luo, Baosen Pang, Wenyi Wang, Mingqin Deng, Rong Jin, Xirennayi Muhataer, Yafang Li, Qifeng Li, and Xiaohong Yang. "Associations of Pulmonary Fibrosis with Peripheral Blood Th1/Th2 Cell Imbalance and EBF3 Gene Methylation in Uygur Pigeon Breeder’s Lung Patients." Cellular Physiology and Biochemistry 47, no. 3 (2018): 1141–51. http://dx.doi.org/10.1159/000490208.

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Background/Aims Pigeon breeder’s lung (PBL) results from Th1/Th2 cell imbalance. B cells inhibit the immune activity of Th1, and EBF3 is a key B cell factor. This study explored the relationship between EBF3 and Th1/Th2 imbalance in chronic PBL cases complicated with pulmonary fibrosis (PF). Methods Twenty Uygur PBL+PF patients, 20 pigeon breeders without PBL or PF, and 20 healthy individuals without pigeon breeding history constituted the patient I, negative control, and normal control groups, respectively. Peripheral blood specimens and case backgrounds were collected between June 2016 and March 2017. EBF3 gene methylation was analyzed by matrix assisted laser desorption ionization-time of flight mass spectrometry. To compare different mechanisms of PF progression in PBL, samples from 20 Uygur PBL patients without PF (at acute and sub-acute stages) were collected between October 2017 and February 2018, constituting the patient II group. EBF3 mRNA expression was evaluated by real-time polymerase chain reaction. IFN-γ, IL-4 and IL-10 expression and Th1/Th2 imbalance in PBL were evaluated by enzyme-linked immunosorbent assay and flow cytometry. Results CpG-2 and general methylation rates in the patient I group were lower than those in the control groups (P˂0.017). The level of EBF3 mRNA expression in the patient I group was significantly higher than that in any other group. Compared with the control groups, the patient I group showed a significantly higher level of IL-4, whereas the patient II group showed a significantly lower level. IL-10 was also expressed more highly in the patient I group than in any other group (P< 0.01). Flow cytometry showed INF-γ dominance (Th1 cytokine) in PBL at the acute/sub-acute stage and IL-4 dominance (Th2 cytokine) at the chronic stage after PF occurred. The general methylation rate was negatively correlated with the mRNA level, with the latter being positively correlated with the IL-10 level and number of pigeons bred in the past 3 months. IL-4 expression was negatively correlated with INF-γ but positively correlated with PF area and duration of pigeon breeding history. Conclusions After PF occurs in chronic PBL, the inflammation type changes from Th1 dominance to Th2 dominance. During PBL development, IL-10 increases before IL-4 does, which may be associated with EBF3 hypomethylation and the involvement of B lymphocytes.

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6

Domack, Marcia S., Karen M. Taminger, and Matthew Begley. "Metallurgical Mechanisms Controlling Mechanical Properties of Aluminium Alloy 2219 Produced by Electron Beam Freeform Fabrication." Materials Science Forum 519-521 (July 2006): 1291–96. http://dx.doi.org/10.4028/www.scientific.net/msf.519-521.1291.

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The electron beam freeform fabrication (EBF3) layer-additive manufacturing process has been developed to directly fabricate complex geometry components. EBF3 introduces metal wire into a molten pool created on the surface of a substrate by a focused electron beam. Part geometry is achieved by translating the substrate with respect to the beam to build the part one layer at a time. Tensile properties have been demonstrated for electron beam deposited aluminum and titanium alloys that are comparable to wrought products, although the microstructures of the deposits exhibit features more typical of cast material. Understanding the metallurgical mechanisms controlling mechanical properties is essential to maximizing application of the EBF3 process. In the current study, mechanical properties and resulting microstructures were examined for aluminum alloy 2219 fabricated over a range of EBF3 process variables. Material performance was evaluated based on tensile properties and results were compared with properties of Al 2219 wrought products. Unique microstructures were observed within the deposited layers and at interlayer boundaries, which varied within the deposit height due to microstructural evolution associated with the complex thermal history experienced during subsequent layer deposition. Microstructures exhibited irregularly shaped grains, typically with interior dendritic structures, which were described based on overall grain size, morphology, distribution, and dendrite spacing, and were correlated with deposition parameters. Fracture features were compared with microstructural elements to define fracture paths and aid in definition of basic processingmicrostructure- property correlations.

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Taminger, Karen M., Robert A. Hafley, and Marcia S. Domack. "Evolution and Control of 2219 Aluminium Microstructural Features through Electron Beam Freeform Fabrication." Materials Science Forum 519-521 (July 2006): 1297–302. http://dx.doi.org/10.4028/www.scientific.net/msf.519-521.1297.

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Electron beam freeform fabrication (EBF3) is a new layer-additive process that has been developed for near-net shape fabrication of complex structures. EBF3 uses an electron beam to create a molten pool on the surface of a substrate. Wire is fed into the molten pool and the part translated with respect to the beam to build up a 3-dimensional structure one layer at a time. Unlike many other freeform fabrication processes, the energy coupling of the electron beam is extremely well suited to processing of aluminum alloys. The layer-additive nature of the EBF3 process results in a tortuous thermal path producing complex microstructures including: small homogeneous equiaxed grains; dendritic growth contained within larger grains; and/or pervasive dendritic formation in the interpass regions of the deposits. Several process control variables contribute to the formation of these different microstructures, including translation speed, wire feed rate, beam current and accelerating voltage. In electron beam processing, higher accelerating voltages embed the energy deeper below the surface of the substrate. Two EBF3 systems have been established at NASA Langley, one with a low-voltage (10-30kV) and the other a high-voltage (30-60 kV) electron beam gun. Aluminum alloy 2219 was processed over a range of different variables to explore the design space and correlate the resultant microstructures with the processing parameters. This report is specifically exploring the impact of accelerating voltage. Of particular interest is correlating energy to the resultant material characteristics to determine the potential of achieving microstructural control through precise management of the heat flux and cooling rates during deposition.

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8

Sleven, Hannah, Seth J. Welsh, Jing Yu, Mair E. A. Churchill, Caroline F. Wright, Alex Henderson, Rita Horvath, et al. "De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome." American Journal of Human Genetics 100, no. 1 (January 2017): 138–50. http://dx.doi.org/10.1016/j.ajhg.2016.11.020.

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9

Bi, Hui, Min Zhang, Jialin Wang, and Gang Long. "The mRNA landscape profiling reveals potential biomarkers associated with acute kidney injury AKI after kidney transplantation." PeerJ 8 (November 27, 2020): e10441. http://dx.doi.org/10.7717/peerj.10441.

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Background This study aims to identify potential biomarkers associated with acute kidney injury (AKI) post kidney transplantation. Material and Methods Two mRNA expression profiles from Gene Expression Omnibus repertory were downloaded, including 20 delayed graft function (DGF) and 68 immediate graft function (IGF) samples. Differentially expressed genes (DEGs) were identified between DGF and IGF group. The Gene Ontology and Kyoto Encyclopedia of Genes and Genomes pathway analysis of DEGs were performed. Then, a protein-protein interaction analysis was performed to extract hub genes. The key genes were searched by literature retrieval and cross-validated based on the training dataset. An external dataset was used to validate the expression levels of key genes. Receiver operating characteristic curve analyses were performed to evaluate diagnostic performance of key genes for AKI. Results A total of 330 DEGs were identified between DGF and IGF samples, including 179 up-regulated and 151 down-regulated genes. Of these, OLIG3, EBF3 and ETV1 were transcription factor genes. Moreover, LEP, EIF4A3, WDR3, MC4R, PPP2CB, DDX21 and GPT served as hub genes in PPI network. EBF3 was significantly up-regulated in validation GSE139061 dataset, which was consistently with our initial gene differential expression analysis. Finally, we found that LEP had a great diagnostic value for AKI (AUC = 0.740). Conclusion EBF3 may be associated with the development of AKI following kidney transplantation. Furthermore, LEP had a good diagnostic value for AKI. These findings provide deeper insights into the diagnosis and management of AKI post renal transplantation.

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10

Jimenez, Maria A., Peter Åkerblad, Mikael Sigvardsson, and Evan D. Rosen. "Critical Role for Ebf1 and Ebf2 in the Adipogenic Transcriptional Cascade." Molecular and Cellular Biology 27, no. 2 (October 23, 2006): 743–57. http://dx.doi.org/10.1128/mcb.01557-06.

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ABSTRACT The Ebf (O/E) family of helix-loop-helix transcription factors plays a significant role in B lymphocyte and neuronal development. The three primary members of this family, Ebf1, 2, and 3, are all expressed in adipocytes, and Ebf1 promotes adipogenesis when overexpressed in NIH 3T3 fibroblasts. Here we report that these three proteins have adipogenic potential in multiple cellular models and that peroxisome proliferator-activated receptor γ (PPARγ) is required for this effect, at least in part due to direct activation of the PPARγ1 promoter by Ebf1. Ebf1 also directly binds to and activates the C/EBPα promoter, which exerts positive feedback on C/EBPδ expression. Despite this, C/EBPα is dispensable for the adipogenic action of Ebf proteins. Ebf1 itself is induced by C/EBPβ and δ, which bind and activate its promoter. Reduction of Ebf1 and Ebf2 proteins by specific short hairpin RNA blocks differentiation of 3T3-L1 cells, suggesting a critical role for these factors and the absence of functional redundancy between members of this family. Altogether, these data place Ebf1 within the known transcriptional cascade of adipogenesis and suggest critical roles for Ebf1 and Ebf2.

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11

Kuriki, Mao, Fuminori Sato, Hiroyuki N. Arai, Maina Sogabe, Mari Kaneko, Hiroshi Kiyonari, Koichi Kawakami, Yuki Yoshimoto, Chisa Shukunami, and Atsuko Sehara-Fujisawa. "Transient and lineage-restricted requirement of Ebf3 for sternum ossification." Development 147, no. 9 (May 1, 2020): dev186239. http://dx.doi.org/10.1242/dev.186239.

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12

Seike, Masanari, Yoshiki Omatsu, Hitomi Watanabe, Gen Kondoh, and Takashi Nagasawa. "Stem cell niche-specific Ebf3 maintains the bone marrow cavity." Genes & Development 32, no. 5-6 (March 1, 2018): 359–72. http://dx.doi.org/10.1101/gad.311068.117.

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13

Ibrahim Al-Obaide, Mohammed A., Viswanath Arutla, Manny D. Bacolod, Wei Wang, Ruiwen Zhang, and Kalkunte S. Srivenugopal. "Genomic Space of MGMT in Human Glioma Revisited: Novel Motifs, Regulatory RNAs, NRF1, 2, and CTCF Involvement in Gene Expression." International Journal of Molecular Sciences 22, no. 5 (March 2, 2021): 2492. http://dx.doi.org/10.3390/ijms22052492.

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Background: The molecular regulation of increased MGMT expression in human brain tumors, the associated regulatory elements, and linkages of these to its epigenetic silencing are not understood. Because the heightened expression or non-expression of MGMT plays a pivotal role in glioma therapeutics, we applied bioinformatics and experimental tools to identify the regulatory elements in the MGMT and neighboring EBF3 gene loci. Results: Extensive genome database analyses showed that the MGMT genomic space was rich in and harbored many undescribed RNA regulatory sequences and recognition motifs. We extended the MGMT’s exon-1 promoter to 2019 bp to include five overlapping alternate promoters. Consensus sequences in the revised promoter for (a) the transcriptional factors CTCF, NRF1/NRF2, GAF, (b) the genetic switch MYC/MAX/MAD, and (c) two well-defined p53 response elements in MGMT intron-1, were identified. A putative protein-coding or non-coding RNA sequence was located in the extended 3′ UTR of the MGMT transcript. Eleven non-coding RNA loci coding for miRNAs, antisense RNA, and lncRNAs were identified in the MGMT-EBF3 region and six of these showed validated potential for curtailing the expression of both MGMT and EBF3 genes. ChIP analysis verified the binding site in MGMT promoter for CTCF which regulates the genomic methylation and chromatin looping. CTCF depletion by a pool of specific siRNA and shRNAs led to a significant attenuation of MGMT expression in human GBM cell lines. Computational analysis of the ChIP sequence data in ENCODE showed the presence of NRF1 in the MGMT promoter and this occurred only in MGMT-proficient cell lines. Further, an enforced NRF2 expression markedly augmented the MGMT mRNA and protein levels in glioma cells. Conclusions: We provide the first evidence for several new regulatory components in the MGMT gene locus which predict complex transcriptional and posttranscriptional controls with potential for new therapeutic avenues.

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14

Baek, Soonbong, Hwan Choi, and Jongpil Kim. "Ebf3-miR218 regulation is involved in the development of dopaminergic neurons." Brain Research 1587 (October 2014): 23–32. http://dx.doi.org/10.1016/j.brainres.2014.08.059.

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15

Goodson, Noah B., Jhenya Nahreini, Grace Randazzo, Ana Uruena, Jane E. Johnson, and Joseph A. Brzezinski. "Prdm13 is required for Ebf3+ amacrine cell formation in the retina." Developmental Biology 434, no. 1 (February 2018): 149–63. http://dx.doi.org/10.1016/j.ydbio.2017.12.003.

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Gu, Cheng, Cheng Chen, Ruipeng Wu, Tong Dong, Xiaojuan Hu, Yuping Yao, and Yi Zhang. "Long Noncoding RNA EBF3-AS Promotes Neuron Apoptosis in Alzheimer's Disease." DNA and Cell Biology 37, no. 3 (March 2018): 220–26. http://dx.doi.org/10.1089/dna.2017.4012.

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17

Chao, Hsiao-Tuan, Mariska Davids, Elizabeth Burke, John G. Pappas, Jill A. Rosenfeld, Alexandra J. McCarty, Taylor Davis, et al. "A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3." American Journal of Human Genetics 100, no. 1 (January 2017): 128–37. http://dx.doi.org/10.1016/j.ajhg.2016.11.018.

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18

Nishi, Eriko, Tomoko Uehara, Kumiko Yanagi, Yuiko Hasegawa, Kimiko Ueda, Tadashi Kaname, Toshiyuki Yamamoto, Kenjiro Kosaki, and Nobuhiko Okamoto. "Clinical spectrum of individuals with de novo EBF3 variants or deletions." American Journal of Medical Genetics Part A 185, no. 10 (May 29, 2021): 2913–21. http://dx.doi.org/10.1002/ajmg.a.62369.

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19

Arceci, R. J. "An EBF3-Mediated Transcriptional Program That Induces Cell Cycle Arrest and Apoptosis." Yearbook of Oncology 2008 (January 2008): 292–93. http://dx.doi.org/10.1016/s1040-1741(08)79196-6.

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Zhao, Lisa Y., Yuxin Niu, Aleixo Santiago, Jilin Liu, Sara H. Albert, Keith D. Robertson, and Daiqing Liao. "An EBF3-Mediated Transcriptional Program That Induces Cell Cycle Arrest and Apoptosis." Cancer Research 66, no. 19 (October 1, 2006): 9445–52. http://dx.doi.org/10.1158/0008-5472.can-06-1713.

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21

Frutos, C. A., M. Keita, Z. Vazzanino, M. Garcia‐Dominguez, P. Charnay, A. Pierani, and S. Garel. "ISDN2012_0213: The transcription factor Ebf3 controls the distribution of Cajal‐Retzius cells." International Journal of Developmental Neuroscience 30, no. 8 (December 2012): 682–83. http://dx.doi.org/10.1016/j.ijdevneu.2012.10.036.

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Mraz, Marek, Karla Plevova, Dasa Dolezalova, Katerina Stano-Kozubik, Veronika Mayerova, Katerina Cerna, Katerina Musilova, et al. "The Regulation, Targets and Clinical Relevance of Microrna Mir-650 in Chronic Lymphocytic Leukemia (CLL),." Blood 118, no. 21 (November 18, 2011): 3874. http://dx.doi.org/10.1182/blood.v118.21.3874.3874.

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Abstract Abstract 3874 It is known that the biology of CLL and other B-cell malignancies is driven by processes dependent on immunoglobulin structure and BCR-signaling. Recently, our group and others have described the importance of miRNAs in CLL and their involvement in BCR-signaling, IgG production and V(D)J recombination. Considering the important functions of miRNAs it is remarkable that the human locus for immunoglobulin lambda light chain (IgL) contains a miR gene. The miR-650 gene is localized in exon 1 of IgL variable subgene (1st exon of V2 family members). The aim of this study was to reveal the regulation and expression of miR-650 in CLL and its relation to disease prognosis. CLL samples were separated by RosetteSep Human B Cell Enrichment Cocktail (obtained purity ≥95% of CD5+19+ cells). The expression of light chain surface immunoglobulin chain (lambda vs kappa) was determined by flow cytometry. The utilized IgL variable (V) segment was determined using BIOMED-2 protocol and sequencing. To study the relation of miR-650 expression and IgL rearrangement the surface expression of Ig light chain and the utilized V segment was determined in a CLL cohort containing 47 patients (λ n=27, κ n=19, λ+κ n=1). The gene expression was analyzed by TaqMan Assays (ABI) for mature miR-650 and protein-coding genes: CDK1, EBF3 and ING4. The western-blot for miR-650 targets was performed after transfection (48hrs/96hrs) of B-cell lines (NALM-6, MEC-1) with a short RNA mimicking miR-650 (Dharmacon). The analyses of miR-650 expression revealed that cells utilizing V2-8, V2-5, V2-14, V2-23 subgenes for IgL (n=14) had ∼10 fold higher expression of miR-650 (p<0.005) when compared to samples utilizing different V lambda family (n=13) or expressing kappa Ig (n=20). This suggests a unique mechanism for coordinate expression of miR-650 and immunoglobulin light chain (for IgL utilizing the V2 family members). This observation is partially surprising because miR-650 was originally identified in colorectal and breast cells and it was believed to be regulated independently of immunoglobulin genes. Our data demonstrate that miR-650 expression is likely regulated at least partially by immunoglobulin light chain promoter. We next studied the possible targets for miR-650 in B-cells. Recently, two targets were identified in solid tumors - ING4 (Inhibitor of Growth 4) and CDK1 (cyclin dependent kinase 1) (Zhang, 2010; Chien, 2010). It has been demonstrated that miR-650 is involved in the p16INK4-mediated pathway and directly regulates the CDK1. This publication suggested that up-regulation of miR-650 leads to inhibition of cell cycle progression. Moreover, the putative targets predicted by software tools (TargetScan, miRanda) include genes important for B-cell biology like EBF3 (early B-cell factor3), CLLU1, Bcl2 and cyclin D1. We therefore studied correlation between miR-650 expression and the expression of mRNAs for CDK1, ING4 and EBF3 (a predicted target with the highest score). The expression of miR-650 was not significantly associated with the expression of any of these genes on mRNA level. The lack of available material did not allow us to study the expression of CDK1, ING4, EBF3 protein levels in the original cohort. However, the transfection of B-cells with short RNA mimicking miR-650 led to down-regulation of protein levels of CDK1 and EBF3. This confirms the relevance of CDK1 as a target in B-cells and identifies a new target - EBF3, which is known to be important for B-cells development. Moreover, the expression of miR-650 was associated with overall survival (OS) and treatment free survival (TFS) in CLL (n=82). In this analysis patients were divided in two groups (based on the median of miR-650 expression). The higher expression of miR-650 was associated with statistically significant (p<0.05) longer OS (not-reached vs. 161 months) and TFS (60 vs. 34 months). This is in line with the observation that miR-650 inhibits CDK1 and cell cycle progression. In conclusion, we have described a mechanism regulating miR-650 expression, identified its relevant targets in B-cells and demonstrated the association of miR-650 expression with CLL prognosis. Supported by IGA MZCR NT11218-6/2010, MSMTMSM0021622430, NS10439-3/2009, FR-TI2/254 Disclosures: Mayer: Roche: Consultancy, Honoraria, Institutional/personal grants and travel/accommodation expenses, Speakers Bureau; Astellas: Consultancy, Honoraria, Institutional/personal grants and travel/accommodation expenses, Speakers Bureau; Bristol-Myers Squibb: Consultancy, Honoraria, Institutional/personal grants and travel/accommodation expenses, Speakers Bureau; Novartis: Consultancy, Honoraria, Institutional/personal grants and travel/accommodation expenses, Speakers Bureau; Fresenius Medical Care: Consultancy, Honoraria, Institutional/personal grants and travel/accommodation expenses, Speakers Bureau; Pfizer: Consultancy, Honoraria, Institutional/personal grants and travel/accommodation expenses, Speakers Bureau; Genzyme: Consultancy, Honoraria, Institutional/personal grants and travel/accommodation expenses, Speakers Bureau; GSK: Honoraria, Institutional/personal grants and travel/accommodation expenses, Speakers Bureau; Amgen:.

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Du, Wenbo, Zhengjun Yao, Shasha Zhang, Xuewei Tao, Oleksander Moliar, Xiangshuo Li, Qichao Zhang, Mengxin Yao, Petro Loboda, and Tetiana Soloviova. "The effect of B doping on the oxidation resistance of Ti6Al4V by EBF3." Corrosion Science 173 (August 2020): 108766. http://dx.doi.org/10.1016/j.corsci.2020.108766.

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24

Kim, Jin, Sun Young Min, Hee Eun Lee, and Woo Ho Kim. "Aberrant DNA methylation and tumor suppressive activity of the EBF3 gene in gastric carcinoma." International Journal of Cancer 130, no. 4 (May 5, 2011): 817–26. http://dx.doi.org/10.1002/ijc.26038.

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Harms, Frederike Leonie, Katta M. Girisha, Andrew A. Hardigan, Fanny Kortüm, Anju Shukla, Malik Alawi, Ashwin Dalal, et al. "Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism." American Journal of Human Genetics 100, no. 1 (January 2017): 117–27. http://dx.doi.org/10.1016/j.ajhg.2016.11.012.

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Iwai, Ryota, Hidenori Tabata, Mayuko Inoue, Kei-ichiro Nomura, Tadashi Okamoto, Masamitsu Ichihashi, Koh-ichi Nagata, and Ken-ichi Mizutani. "A Prdm8 target gene Ebf3 regulates multipolar-to-bipolar transition in migrating neocortical cells." Biochemical and Biophysical Research Communications 495, no. 1 (January 2018): 388–94. http://dx.doi.org/10.1016/j.bbrc.2017.11.021.

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Park, Sung-Hoon, Seong-Kyu Kim, Jung-Yoon Choe, Youngho Moon, Sungwhan An, Mae Ja Park, and Dong Sun Kim. "Hypermethylation of EBF3 and IRX1 genes in synovial fibroblasts of patients with rheumatoid arthritis." Molecules and Cells 35, no. 4 (February 26, 2013): 298–304. http://dx.doi.org/10.1007/s10059-013-2302-0.

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Tanaka, Akemi J., Megan T. Cho, Rebecca Willaert, Kyle Retterer, Yuri A. Zarate, Katie Bosanko, Vikki Stefans, et al. "De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism." Molecular Case Studies 3, no. 6 (November 2017): a002097. http://dx.doi.org/10.1101/mcs.a002097.

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Chang, Shuhe, Haoyu Zhang, Haiying Xu, Xinghua Sang, Li Wang, Dong Du, and Baohua Chang. "Online Measurement of Deposit Surface in Electron Beam Freeform Fabrication." Sensors 19, no. 18 (September 16, 2019): 4001. http://dx.doi.org/10.3390/s19184001.

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In the process of electron beam freeform fabrication (EBF3), due to the continuous change of thermal conditions and variability in wire feeding in the deposition process, geometric deviations are generated in the deposition of each layer. In order to prevent the layer-by-layer accumulation of the deviation, it is necessary to perform online geometry measurement for each deposition layer, based on which the error compensation can be done for the previous deposition layer in the next deposition layer. However, the traditional three-dimensional reconstruction method that employs structured laser cannot meet the requirements of long-term stable operation in the manufacturing process of EBF3. Therefore, this paper proposes a method to measure the deposit surfaces based on the position information of electron beam speckle, in which an electron beam is used to bombard the surface of the deposit to generate the speckle. Based on the structured information of the electron beam in the vacuum chamber, the three-dimensional reconstruction of the surface of the deposited parts is realized without need of additional structured laser sensor. In order to improve the detection accuracy, the detection error is theoretically analyzed and compensated. The absolute error after compensation is smaller than 0.1 mm, and the precision can reach 0.1%, which satisfies the requirements of 3D reconstruction of the deposited parts. An online measurement system is built for the surface of deposited parts in the process of electron beam freeform fabrication, which realizes the online 3D reconstruction of the surface of the deposited layer. In addition, in order to improve the detection stability of the whole system, the image processing algorithm suitable for this scene is designed. The reliability and speed of the algorithm are improved by ROI extraction, threshold segmentation, and expansion corrosion. In addition, the speckle size information can also reflect the thermal conditions of the surface of the deposited parts. Hence, it can be used for online detection of defects such as infusion and voids.

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Hao, Dongdong, Lian Jin, Xing Wen, Feifei Yu, Qi Xie, and Hongwei Guo. "The RING E3 ligase SDIR1 destabilizes EBF1/EBF2 and modulates the ethylene response to ambient temperature fluctuations in Arabidopsis." Proceedings of the National Academy of Sciences 118, no. 6 (February 1, 2021): e2024592118. http://dx.doi.org/10.1073/pnas.2024592118.

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The gaseous phytohormone ethylene mediates numerous aspects of plant growth and development as well as stress responses. The F-box proteins EIN3-binding F-box protein 1 (EBF1) and EBF2 are key components that ubiquitinate and degrade the master transcription factors ethylene insensitive 3 (EIN3) and EIN3-like 1 (EIL1) in the ethylene response pathway. Notably, EBF1 and EBF2 themselves undergo the 26S proteasome-mediated proteolysis induced by ethylene and other stress signals. However, despite their importance, little is known about the mechanisms regulating the degradation of these proteins. Here, we show that a really interesting new gene (RING)-type E3 ligase, salt- and drought-induced ring finger 1 (SDIR1), positively regulates the ethylene response and promotes the accumulation of EIN3. Further analyses indicate that SDIR1 directly interacts with EBF1/EBF2 and targets them for ubiquitination and proteasome-dependent degradation. We show that SDIR1 is required for the fine tuning of the ethylene response to ambient temperature changes by mediating temperature-induced EBF1/EBF2 degradation and EIN3 accumulation. Thus, our work demonstrates that SDIR1 functions as an important modulator of ethylene signaling in response to ambient temperature changes, thereby enabling plant adaptation under fluctuating environmental conditions.

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Kim, Tae-Gyeong, Yoon-Ha Choi, Ye-Na Lee, Min-Ji Kang, Go Hun Seo, and Beom Hee Lee. "Hypotonia, Ataxia, and Delayed Development Syndrome caused by the EBF3 mutation in a Korean boy with muscle hypotonia." Journal of Genetic Medicine 17, no. 2 (December 31, 2020): 92–96. http://dx.doi.org/10.5734/jgm.2020.17.2.92.

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Zhang, Jing, Yan Zhang, Xiaoping Tan, Qing Zhang, Chaoyong Liu, and Yali Zhang. "MiR-23b-3p induces the proliferation and metastasis of esophageal squamous cell carcinomas cells through the inhibition of EBF3." Acta Biochimica et Biophysica Sinica 50, no. 6 (May 10, 2018): 605–14. http://dx.doi.org/10.1093/abbs/gmy049.

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Mraz, Marek, Dasa Dolezalova, Karla Plevova, Katerina Stano Kozubik, Veronika Mayerova, Katerina Cerna, Katerina Musilova, et al. "MicroRNA-650 expression is influenced by immunoglobulin gene rearrangement and affects the biology of chronic lymphocytic leukemia." Blood 119, no. 9 (March 1, 2012): 2110–13. http://dx.doi.org/10.1182/blood-2011-11-394874.

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AbstractMicroRNAs (miRNAs) play a key role in chronic lymphocytic leukemia as well as in normal B cells. Notably, miRNA gene encoding miR-650 and its homologs overlap with several variable (V) subgenes coding for lambda immunoglobulin (IgLλ). Recent studies describe the role of miR-650 in solid tumors, but its role in chronic lymphocytic leukemia (CLL) has not yet been studied. Our experiments demonstrate that miR-650 expression is regulated by coupled expression with its host gene for IgLλ. This coupling provides a unique yet unobserved mechanism for microRNA gene regulation. We determine that higher expression of miR-650 is associated with a favorable CLL prognosis and influences the proliferation capacity of B cells. We also establish that in B cells, miR-650 targets proteins important in cell proliferation and survival: cyclin dependent kinase 1 (CDK1), inhibitor of growth 4 (ING4), and early B-cell factor 3 (EBF3). This study underscores the importance of miR-650 in CLL biology and normal B-cell physiology.

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Jiang, Bochen, Yiting Shi, Xiaoyan Zhang, Xiaoyun Xin, Lijuan Qi, Hongwei Guo, Jigang Li, and Shuhua Yang. "PIF3 is a negative regulator of the CBF pathway and freezing tolerance in Arabidopsis." Proceedings of the National Academy of Sciences 114, no. 32 (July 24, 2017): E6695—E6702. http://dx.doi.org/10.1073/pnas.1706226114.

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Light and temperature are major environmental factors that coordinately control plant growth and survival. However, how plants integrate light and temperature signals to better adapt to environmental stresses is poorly understood. PHYTOCHROME-INTERACTING FACTOR 3 (PIF3), a key transcription factor repressing photomorphogenesis, has been shown to play a pivotal role in mediating plants’ responses to various environmental signals. In this study, we found that PIF3 functions as a negative regulator of Arabidopsis freezing tolerance by directly binding to the promoters of C-REPEAT BINDING FACTOR (CBF) genes to down-regulate their expression. In addition, two F-box proteins, EIN3-BINDING F-BOX 1 (EBF1) and EBF2, directly target PIF3 for 26S proteasome-mediated degradation. Consistently, ebf1 and ebf2 mutants were more sensitive to freezing than were the wild type, and the pif3 mutation suppressed the freezing-sensitive phenotype of ebf1. Furthermore, cold treatment promoted the degradation of EBF1 and EBF2, leading to increased stability of the PIF3 protein and reduced expression of the CBF genes. Together, our study uncovers an important role of PIF3 in Arabidopsis freezing tolerance by negatively regulating the expression of genes in the CBF pathway.

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Tao, Yan-Fang, Li-Xiao Xu, Jun Lu, Shao-Yan Hu, Fang Fang, Lan Cao, Pei-Fang Xiao, et al. "Early B-cell factor 3 (EBF3) is a novel tumor suppressor gene with promoter hypermethylation in pediatric acute myeloid leukemia." Journal of Experimental & Clinical Cancer Research 34, no. 1 (2015): 4. http://dx.doi.org/10.1186/s13046-014-0118-1.

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Ruiz-Reig, Nuria, Belen Andres, Thomas Lamonerie, Thomas Theil, Alfonso Fairén, and Michèle Studer. "The caudo-ventral pallium is a novel pallial domain expressing Gdf10 and generating Ebf3-positive neurons of the medial amygdala." Brain Structure and Function 223, no. 7 (June 4, 2018): 3279–95. http://dx.doi.org/10.1007/s00429-018-1687-0.

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Panin, Alexey, Marina Kazachenok, Alexey Kolmakov, Sergey Chizhik, Mikhail Heifetz, and Yuri Chugui. "Microstructure and mechanical behaviour of additive manufactured Ti–6Al–4V parts under tension." EPJ Web of Conferences 221 (2019): 01037. http://dx.doi.org/10.1051/epjconf/201922101037.

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Metal-based additive manufacturing technologies using electron or laser beams as a heat source for melting a metal powder or wire have been the subject of keen interest in recent years. At present paper a comparative analysis of the microstructure, strain response during tensile test and mechanical properties of Ti–6Al–4V samples produced by selective laser melting, electron beam melting or electron beam free-form fabrication were performed. A microstructural study using transmission electron microscopy revealed columnar prior β grains transformed into a lamellar α-morphology in the samples. According to X-ray diffraction study, the volume fractions of the β-Ti phase in the samples were equal to 2, 4 and 6 % respectively. It has been shown that the Vickers microhardness of SLM and EBM Ti–6Al–4V samples was similar (~5.4 GPa) while the hardness of EBF3 parts was significantly lower (4.5 GPa). The uniaxial stress-strain response of the Ti–6Al–4V samples fabricated by different additive manufacturing technologies were compared. Crystallographic (dislocation motion) and non-crystallographic (shear banding) deformation mechanisms of the loaded samples were studied by scanning electron microscopy and optical profilometry.

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Mao, Liping, Huimin Wang, Yueguo Wang, Shaoqing Ju, Yueping Wu, and Xiaoyun Jin. "Increased Expression of Early B-cell Factor 3 in Human Hepatocellular Carcinoma and the Effect of EBF3 Overexpression on HepG2 Cell Cycling." Laboratory Medicine 40, no. 1 (January 2009): 39–46. http://dx.doi.org/10.1309/lm3db8xpeud4htui.

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Engelhardt, Michael D., and Egor P. Popov. "On Design of Eccentrically Braced Frames." Earthquake Spectra 5, no. 3 (August 1989): 495–511. http://dx.doi.org/10.1193/1.1585537.

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Seismic-resistant Eccentrically Braced Frames (EBFs) are becoming a widely used lateral resisting system for steel buildings, with even wider application anticipated as design requirements are put into building code format. This paper addresses a number of EBF design issues, which in the opinion of the authors are inadequately considered either in current practice or in the emerging code provisions. The overall design philosophy for EBFs is reviewed, with specific reference to the concept of “Capacity Design”. Application of capacity design principles assures that yielding will be restricted primarily to the ductile link elements, an important goal of EBF design. Further, through careful choice of frame geometry and link length at the preliminary stages, many potential design difficulties can be avoided. The paper also presents some important observations from experimental work currently underway on EBFs with long, flexural yielding links.

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Singh, Vishwanath P., and N. M. Badiger. "A Comprehensive Study on Gamma-Ray Exposure Build-Up Factors and Fast Neutron Removal Cross Sections of Fly-Ash Bricks." Journal of Ceramics 2013 (August 21, 2013): 1–13. http://dx.doi.org/10.1155/2013/967264.

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Geometric progression (GP) method was utilized to investigate gamma-ray exposure build-up factors of fly-ash bricks for energies from 0.015 to 15 MeV up to 40 mfp penetration depth. The EBFs of the fly-ash bricks are dependent upon the photon energy, penetration depths, and the chemical compositions of the elements. Appreciable variations in exposure build-up factor (EBF) are noted for the fly-ash bricks. The EBFs were found to be small in low and high photon energy regions whereas very large in medium energy region. EBF of the bricks is inversely proportional to equivalent atomic number below 10 mfp for entire energy region of interest 0.015 to 15 MeV. The EBFs of fly-ash, brick of mud, and common brick were similar at 1.5 MeV photon energy. The EBF of the fly-ash bricks was found to be higher than that of the brick of mud, and common brick. The fast neutron removal cross sections of the fly-ash bricks, brick of mud, and common bricks were also calculated which were found to be in the same order. It is expected that this study should be very directly useful for shielding effectiveness of fly-ash brick materials and dose estimation.

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Zandi, Sasan, Panagiotis Tsapogas, Robert Månsson, and Mikael Sigvardsson. "IL7 Counteraction with Notch Signaling Followed by EBF1 Expression Marks the B-Cell Commitment in CLP Stage." Blood 112, no. 11 (November 16, 2008): 2452. http://dx.doi.org/10.1182/blood.v112.11.2452.2452.

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Abstract Development of B-cell lineage from hematopoietic Stem cells in bone marrow is a stepwise process associated with a gradual loss of myeloid and T cell potential. This process involves a complex interaction of transcription factors like EBF1 and E2A, and extrinsic signals including IL7. It has been suggested that IL7 plays an inductive role in B-cell commitment through EBF activation in early B-Cell development. Mice deficient in Il-7 signaling show a dramatic reduction in the number of B-cell progenitors and reduced expression of EBF1 in the common lymphoid progenitor (CLP) compartment and ectopic expression of EBF can partially rescue the B-cell phenotype. However, the rather limited ability of EBF1 to rescue the phenotype as well as the powerful function of Il-7 in the expansion of committed cells creates a complex situation with an inherent difficulty to separate instructive and permissive actions of Il-7. Using transgenic mice carrying a reporter gene under the control of the EBF1 dependent Igll1 promoter, we were able to identify a B220−CD19− committed B-cell progenitor likely to represent the earliest committed population in the mouse bone marrow. This has opened the possibility to investigate lineage commitment in cells not expressing classical surface markers creating increased possibilities to study lineage choices. In order to investigate the inductive role of Il-7 we crossed the Igll1 reporter mice to Il-7 deficient mice. Analysis of reporter gene expression, gene expression by multiplex single cell PCR as well as functional analysis by in vitro differentiation assays, all supported that the committed lineage negative population was dramatically decreased in the absence of Il-7. These data all support the idea that Il-7 is critical not only for expansion of B-lineage progenitors but also for commitment per se. Investigation of the expression of EBF-1 by Real time and single cell PCR suggested that the expression level of EBF was on an average 50% lower in Il-7 deficient progenitors as compared to wild type cells. This expression level was recapitulated in mice heterozygote for a mutation in the EBF1 gene but since the formation of the early committed cells was not as dramatically effected in these mice, we found a need to look for a further function of Il-7 in its instructive role in B-cell development. This prompted us to investigate a potential function of Il-7 in the modulation of Notch signals known to counteract B-cell commitment and EBF function. This revealed that the addition of Il-7 largely inhibits the Notch response in pro-B cells in vitro. Therefore we suggest that Il-7 is directly involved in B-cell commitment and that this function is achieved by modulation of EBF1 both at the transcriptional and functional level.

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Chanda, Bidisha, Tomokatsu Ikawa, Kazuki Okuyama, Katsuto Hozumi, Kiyoshi Ando, Arinobu Tojo, Hiroshi Kawamoto, and Ai Kotani. "EBF Deficient Hematopoietic Progenitor Cells Potentialy Differentiated into Immature B Cell: EBF1 Dispensable for B Cell Linage Commitment from Pro-B to Pre-B Stage." Blood 124, no. 21 (December 6, 2014): 5127. http://dx.doi.org/10.1182/blood.v124.21.5127.5127.

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Abstract Introduction: Canonical notion demonstrates that Cell fate is determined by transcriptional factor. Accordingly, the lineage specific transcriptional factors have been investigated for various kinds of cells. Especially, in the hematopoietic system, the extensive research for lineage specific transcriptional factors had elucidated the transcriptional factors which regulated lineage commitment. B cell commitment and development requires the activities of multiple transcription factors, including the early B cell factor (EBF), PAX5, and E2A. These transcription factors regulate B cell development in a stage specific manner. The hematopoietic progenitor cells which are deficient for any of them, cannot commit B cells. Among them EBF1 is presumed to be more potent. Rescue early pro B cell to induce the expression of several key proteins including RAG that enable gene rearrangement to occur by opening of IgH locus. We found that the B cell developmental arrest caused by EBF1 deficiency can be rescued by a single non coding RNA. These B cells which are deficient EBF1 but showed the expression of CD19, B cell lineage specific surface marker and VDJ recombination, molecular markers of B cell commitment in vitro B cell differentiation system cocultured with Tst4 cells, stromal cell lines. We further investigated the quality and differentiation potential of these B lineage commitment cells in the in vivo mouse model and elucidated the mechanism of this phenomenon. Material and methods: We collected EBF1−/− fetal liver hematopoietic progenitor (Lin−) cells and cultured them on TSt-4 stromal cells after infecting with non coding RNA and control vector in IMDM medium containing cytokines and then injected it into NOG mice. Collect bone marrow (BM), thymus and spleen from those mice. Then comprehensive Gene-Expression analysis, real time PCR for VDJ recombination analysis was performed and checked surface marker by flowcytometry. Result: We analyzed BM and spleen of non coding RNA infected EBF1 KO cells injected mice and found the expression of CD19 in BM as well as in spleen and upregulated of B220 also, comparing with control vector expressed cells. Furthermore, surface IgM expression of CD19 positive cells in the spleen is upregulated compared with the cells in the BM (Figure 1). Several target genes of the non-coding RNAs were identified by use of cDNA array analysis and luciferase reportor assay. Among them, several genes were involved in TGF beta pathway. As TGF beta family and the pathway, has been reported a critical factor which is negatively regulating B lymphopoiesis (Figure 2). We hypothesized that TGF beta family genes such as Tgfβr3, Acvr2a, are responsible for B cell differentiation for which EBF1 is dispensable .We cultured EBF KO cells for 14 days with and without TGF beta 1,2,3 antibody and Activin A antibody on TST4 cells. We found that increase mean intensity (MFI) of B220 into antibodies positive cocultured cells (Figure 3) to suggest, the suppression of TGF beta pathway is partially responsible for B cell differentiation under EBF1 deficiency. Conclusion: Canonical notion of cell fate determination of B cells defines that EBF1 is an indispensible factor for B lymphopoiesis. However, from our previous and present study it is proved that without EBF1 B cell development can progress to pro B to pre B cell and Immature B cell stage and “VDJ recombination” occur in the absence of EBF. Furthermore, in vivo mouse model, EBF1 deficient hematopoietic progenitor cells differentiated into IgM positive cells. Therefore we can conclude that EBF is dispensable of VDJ recombination, opening of IgH locus, binding of RAG protein and B cell differentiation to the mature stage. One of the mechanisms is possibly due to the stimuli from microenvironment, such as TGF beta family and pathway. Furthermore, the detail mechanism of IgH locus opening, epigenetic changes and chromatin remodeling around the IgH locus in the absence of EBF is under investigation. Disclosures Chanda: Japan Society for the Promotion of Science(JSPS): Research Funding.

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Pruccoli, Jacopo, Claudio Graziano, Chiara Locatelli, Lucia Maltoni, Hodman Ahmed Sheikh Maye, and Duccio Maria Cordelli. "Expanding the Neurological Phenotype of Ring Chromosome 10 Syndrome: A Case Report and Review of the Literature." Genes 12, no. 10 (September 26, 2021): 1513. http://dx.doi.org/10.3390/genes12101513.

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Ring chromosome 10 [r(10)] syndrome is a rare genetic condition, currently described in the medical literature in a small number of case report studies. Typical clinical features include microcephaly, short stature, facial dysmorphisms, ophthalmologic abnormalities and genitourinary malformations. We report a novel case of r(10) syndrome and review the neurological and neuroradiological phenotypes of the previously described cases. Our patient, a 3 year old Italian girl, represents the 20th case of r(10) syndrome described to date. Intellectual disability/developmental delay (ID/DD), microcephaly, strabismus, hypotonia, stereotyped/aggressive behaviors and electroencephalographic abnormalities were identified in our patient, and in a series of previous cases. A brain MRI disclosed a complex malformation involving both the vermis and cerebellar hemispheres; in the literature, posterior cranial fossa abnormalities were documented by CT scan in another case. Two genes deleted in our case (ZMYND11 in 10p and EBF3 in 10q) are involved in autosomal dominant neurodevelopmental disorders, characterized by different expressions of brain and posterior cranial fossa abnormalities, ID/DD, hypotonia and behavioral problems. Our case expands the neurological and neuroradiological phenotype of r(10) syndrome. Although r(10) syndrome represents an extremely rare condition, with a clinical characterization limited to case reports, the recurrence of specific neurological and neuroradiological features suggests the need for specific genotype-phenotype studies.

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Vaseva, Irina Ivanova, Enas Qudeimat, Thomas Potuschak, Yunlong Du, Pascal Genschik, Filip Vandenbussche, and Dominique Van Der Straeten. "The plant hormone ethylene restricts Arabidopsis growth via the epidermis." Proceedings of the National Academy of Sciences 115, no. 17 (April 11, 2018): E4130—E4139. http://dx.doi.org/10.1073/pnas.1717649115.

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The gaseous hormone ethylene plays a key role in plant growth and development, and it is a major regulator of stress responses. It inhibits vegetative growth by restricting cell elongation, mainly through cross-talk with auxins. However, it remains unknown whether ethylene controls growth throughout all plant tissues or whether its signaling is confined to specific cell types. We employed a targeted expression approach to map the tissue site(s) of ethylene growth regulation. The ubiquitin E3 ligase complex containing Skp1, Cullin1, and the F-box protein EBF1 or EBF2 (SCFEBF1/2) target the degradation of EIN3, the master transcription factor in ethylene signaling. We coupled EBF1 and EBF2 to a number of cell type-specific promoters. Using phenotypic assays for ethylene response and mutant complementation, we revealed that the epidermis is the main site of ethylene action controlling plant growth in both roots and shoots. Suppression of ethylene signaling in the epidermis of the constitutive ethylene signaling mutant ctr1-1 was sufficient to rescue the mutant phenotype, pointing to the epidermis as a key cell type required for ethylene-mediated growth inhibition.

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Milevoj Kopcinovic, Lara, Jelena Culej, Anja Jokic, Marija Bozovic, and Irena Kocijan. "Laboratory testing of extravascular body fluids." Biochemia medica 30, no. 1 (February 15, 2020): 31–59. http://dx.doi.org/10.11613/bm.2020.010502.

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Extravascular body fluids (EBF) analysis can provide useful information in the differential diagnosis of conditions that caused their accumulation. Their unique nature and particular requirements accompanying EBF analysis need to be recognized in order to minimize possible negative implications on patient safety. This recommendation was prepared by the members of the Working group for extravascular body fluid samples (WG EBFS). It is designed to address the total testing process and clinical significance of tests used in EBF analysis. The recommendation begins with a chapter addressing validation of methods used in EBF analysis, and continues with specific recommendations for serous fluids analysis. It is organized in sections referring to the preanalytical, analytical and postanalytical phase with specific recommendations presented in boxes. Its main goal is to assist in the attainment of national harmonization of serous fluid analysis and ultimately improve patient safety and healthcare outcomes. This recommendation is intended to all laboratory professionals performing EBF analysis and healthcare professionals involved in EBF collection and processing. Cytological and microbiological evaluations of EBF are beyond the scope of this document.

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Bahrami, Alireza, and Mahmood Heidari. "Investigation of Steel Frames Equipped with Steel Eccentric Braces and Steel-Concrete Buckling-Restrained Braces Having Moment Link." Open Construction and Building Technology Journal 15, no. 1 (May 6, 2021): 55–69. http://dx.doi.org/10.2174/1874836802115010055.

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Background: Different bracing systems of steel Eccentric Braces (EBs) and steel-concrete Buckling-Restrained Braces (BRBs) can be used in steel frames in order to make the frames stronger in resisting lateral loads. These steel frames with EBs or BRBs are generally called Eccentrically Braced Frames (EBFs) or Buckling-Restrained Braced Frames (BRBFs), respectively. Objective: This study aims to investigate steel frames with bracing systems of steel EBs and steel-concrete BRBs having moment link. Methods: The EBFs and BRBFs are nonlinearly analysed employing the finite element software ABAQUS. Experimental tests of the EBF and BRB are utilised for the validation of their modelling. The modelling is validated by comparing the modelling results with experimental tests results. Then, an EBF and a BRBF are designed having moment link. The extreme earthquake records of Tabas, Chi-Chi, and Northridge are selected for the dynamic analyses of the EBF and BRBF. The validated modelling method is applied to analyse the designed EBF and BRBF under the selected earthquake records. Results: The achieved results from the analyses are lateral displacements, base shears, and energy dissipations of the EBF and BRBF and moment link rotations. These results are compared and discussed. Conclusion: It is concluded that the hierarchy of the lateral displacements of the analysed EBF and BRBF, having moment link, is related to the Tabas, Chi-Chi, and Northridge records because the lateral displacements of the frames are directly proportional to the peak ground accelerations of the records, and there is the same hierarchy for the records in terms of their peak ground accelerations. Lower lateral displacements are witnessed for the BRBF than the EBF subjected to the Tabas and Chi-Chi records. However, larger lateral displacement is observed for the BRBF than the EBF under the Northridge record. The same procedure as the lateral displacements is also revealed for the effectiveness of the BRBF with regard to its link rotations compared with the EBF. Moreover, the BRBF improves the base shear capacities and energy dissipations of the frame compared with the EBF. Consequently, the BRBF is generally demonstrated to be superior to the EBF from the structural performance point of view. Thus, the BRBF can be used more efficiently in structures subjected to large lateral loads compared with the EBF.

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Popov, Egor P., Kazuhiko Kasai, and Michael D. Engelhardt. "Advances in Design of Eccentrically Braced Frames." Earthquake Spectra 3, no. 1 (February 1987): 43–55. http://dx.doi.org/10.1193/1.1585418.

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Eccentrically Braced Frames (EBFs) have attained recognized status as a viable structural steel system for resisting lateral seismic forces. Sustained research at the University of California, Berkeley, since 1977 and numerous field applications provide a good database for their proper design. In this paper the different types of EBF are critically evaluated, and the kinematics of their inelastic deformation are examined with particular reference to the behavior of isolated short beam segments or links. Desirable link length and web stiffening are recommended. A preliminary design procedure for hand-calculation of EBFs is described and some suggestions for brace connection details are advanced.

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Popov, Egor P., Kazuhiko Kasai, and Michael D. Engelhardt. "Advances in design of eccentrically braced frames." Bulletin of the New Zealand Society for Earthquake Engineering 20, no. 1 (March 31, 1987): 22–29. http://dx.doi.org/10.5459/bnzsee.20.1.22-29.

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Eccentrically Braced Frames (EBFs) have attained recognized status as a viable structural steel system for resisting lateral seismic forces. Sustained research at the University of California, Berkeley, since 1977 and numerous field applications provide a good database for their proper design. In this paper the different types of EBF are critically evaluated, and the kinematics of their inelastic deformation are examined with particular reference to the behaviour of isolated short beam segments or links. Desirable link length and web stiffening are recommended. A preliminary design procedure for hand-calculation of EBFs is described and some suggestions for brace connection details are advanced.

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Hildebrand, Michael S., Victoria E. Jackson, Thomas S. Scerri, Olivia Van Reyk, Matthew Coleman, Ruth O. Braden, Samantha Turner, et al. "Severe childhood speech disorder." Neurology 94, no. 20 (April 28, 2020): e2148-e2167. http://dx.doi.org/10.1212/wnl.0000000000009441.

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ObjectiveDetermining the genetic basis of speech disorders provides insight into the neurobiology of human communication. Despite intensive investigation over the past 2 decades, the etiology of most speech disorders in children remains unexplained. To test the hypothesis that speech disorders have a genetic etiology, we performed genetic analysis of children with severe speech disorder, specifically childhood apraxia of speech (CAS).MethodsPrecise phenotyping together with research genome or exome analysis were performed on children referred with a primary diagnosis of CAS. Gene coexpression and gene set enrichment analyses were conducted on high-confidence gene candidates.ResultsThirty-four probands ascertained for CAS were studied. In 11/34 (32%) probands, we identified highly plausible pathogenic single nucleotide (n = 10; CDK13, EBF3, GNAO1, GNB1, DDX3X, MEIS2, POGZ, SETBP1, UPF2, ZNF142) or copy number (n = 1; 5q14.3q21.1 locus) variants in novel genes or loci for CAS. Testing of parental DNA was available for 9 probands and confirmed that the variants had arisen de novo. Eight genes encode proteins critical for regulation of gene transcription, and analyses of transcriptomic data found CAS-implicated genes were highly coexpressed in the developing human brain.ConclusionWe identify the likely genetic etiology in 11 patients with CAS and implicate 9 genes for the first time. We find that CAS is often a sporadic monogenic disorder, and highly genetically heterogeneous. Highly penetrant variants implicate shared pathways in broad transcriptional regulation, highlighting the key role of transcriptional regulation in normal speech development. CAS is a distinctive, socially debilitating clinical disorder, and understanding its molecular basis is the first step towards identifying precision medicine approaches.

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Murcia Pienkowski, Victor, Marzena Kucharczyk, Marlena Młynek, Krzysztof Szczałuba, Małgorzata Rydzanicz, Barbara Poszewiecka, Agata Skórka, et al. "Mapping of breakpoints in balanced chromosomal translocations by shallow whole-genome sequencing points to EFNA5, BAHD1 and PPP2R5E as novel candidates for genes causing human Mendelian disorders." Journal of Medical Genetics 56, no. 2 (October 23, 2018): 104–12. http://dx.doi.org/10.1136/jmedgenet-2018-105527.

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BackgroundMapping the breakpoints in de novo balanced chromosomal translocations (BCT) in symptomatic individuals provides a unique opportunity to identify in an unbiased way the likely causative genetic defect and thus find novel human disease candidate genes. Our aim was to fine-map breakpoints of de novo BCTs in a case series of nine patients.MethodsShallow whole-genome mate pair sequencing (SGMPS) together with long-range PCR and Sanger sequencing. In one case (BCT disrupting BAHD1 and RET) cDNA analysis was used to verify expression of a fusion transcript in cultured fibroblasts.ResultsIn all nine probands 11 disrupted genes were found, that is, EFNA5, EBF3, LARGE, PPP2R5E, TXNDC5, ZNF423, NIPBL, BAHD1, RET, TRPS1 and SLC4A10. Five subjects had translocations that disrupted genes with so far unknown (EFNA5, BAHD1, PPP2R5E, TXNDC5) or poorly delineated impact on the phenotype (SLC4A10, two previous reports of BCT disrupting the gene). The four genes with no previous disease associations (EFNA5, BAHD1, PPP2R5E, TXNDC5), when compared with all human genes by a bootstrap test, had significantly higher pLI (p<0.017) and DOMINO (p<0.02) scores indicating enrichment in genes likely to be intolerant to single copy damage. Inspection of individual pLI and DOMINO scores, and local topologically associating domain structure suggested that EFNA5, BAHD1 and PPP2R5E were particularly good candidates for novel disease loci. The pathomechanism for BAHD1 may involve deregulation of expression due to fusion with RET promoter.ConclusionSGMPS in symptomatic carriers of BCTs is a powerful approach to delineate novel human gene–disease associations.

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