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https://www.readbyqxmd.com/read/28551919/-utilization-of-whole-exome-sequencing-in-diagnostics-of-genetic-disease-rabin-medical-center-s-experience
#1
Lior Cohen, Naama Orenstein, Monica Weisz-Hubshman, Lily Bazak, Bella Davidov, Eyal Reinstein, Shay Tzur, Doron Behar, Pola Smirin-Yosef, Mali Salmon-Divon, Amit Gross, Mordechai Shohat, Lina Basel-Vanagaite
INTRODUCTION: Whole exome sequencing is a diagnostic approach for the identification of molecular etiology in patients with suspected monogenic diseases. In this article we report on our experience with whole-exome sequencing (WES) of DNA samples taken from patients referred for genetic evaluation due to suspected undiagnosed genetic conditions. METHODS: Exome enrichment was achieved by Nextera Rapid Capture Expanded Exome Kit. Whole-exome sequencing was performed on Illumina HiSeq 2500...
April 2017: Harefuah
https://www.readbyqxmd.com/read/28551908/-involvement-of-epigenetic-regulation-in-cerebral-cell-death-following-traumatic-brain-injury-in-a-rat-model
#2
Mona Shehadeh, Moti Ben-Shabat, Jana Livshits, Eilam Palzur
INTRODUCTION: Traumatic brain injuries (TBI) are a major cause of mortality and disability among young adults. TBI are characterized by primary injury, the result of a mechanical impact to the cranium and a secondary injury, a series of molecular mechanism processes developing thereafter. Cerebral cells modify their gene and protein expression as a result of the injury. Epigenetic modifications have a key role as regulators of gene transcription and may simultaneously be involved in the regulation of the molecular pathways following TBI...
May 2017: Harefuah
https://www.readbyqxmd.com/read/28551876/identification-and-characterization-of-a-new-agar-degrading-strain-with-the-novel-properties-of-saccharides-inhibition-and-nitrogen-fixation
#3
Hao Wu, Guiguang Chen, Yaxi Bian, Wei Zeng, Bihong Sun, Zhiqun Liang
In this study, a new agar-degrading strain was isolated from soil with agar as a sole carbon source and energy. Based on its morphological, physiological, biochemical characterization and 16S rDNA sequence, the strain was identified as Streptomyces lavendulae UN-8. The extracellular agarase activity reached 0.03 U/ml after fermentation in shake flask (250 ml), which was close to other reported non-marine microorganisms. Furthermore, it is interesting that the growth of UN-8 would be inhibited by glucose (40 g/L) and maltose (40 g/L) with the inhibitory rate of 100% and 70%, respectively...
June 2017: Journal of Microbiology / the Microbiological Society of Korea
https://www.readbyqxmd.com/read/28551733/rt-lamp-assay-an-alternative-approach-for-profiling-of-bovine-heat-shock-protein-70-gene-in-pbmc-cultured-model
#4
Gyanendra Singh Sengar, Rajib Deb, T V Raja, Umesh Singh, Rajiv Kant, V Bhanuprakash, R R Alyethodi, Sushil Kumar, Preetam Verma, Soumendu Chakraborty, Rani Alex, Rani Singh
The purpose of this study is to develop a novel Reverse Transcriptase Loop-mediated isothermal amplification (RT-LAMP) based assay for in vitro profiling of heat shock protein 70 (Hsp70) in bovine peripheral blood mononuclear cell (PBMC) culture model utilizing the absorbance level of magnesium pyrophosphate-a by-product of LAMP reaction. A set of bovine Hsp70 specific RT-LAMP primers were designed to detect the differential absorbance level of magnesium pyrophosphate by-product which signifies the degree of Hsp70 amplification from cDNA of thermally induced cultured cells at different recovery periods...
May 27, 2017: Molecular Biology Reports
https://www.readbyqxmd.com/read/28551732/bradyrhizobium-brasilense-sp-nov-a-symbiotic-nitrogen-fixing-bacterium-isolated-from-brazilian-tropical-soils
#5
Elaine Martins da Costa, Amanda Azarias Guimarães, Rayssa Pereira Vicentin, Paula Rose de Almeida Ribeiro, Aniele Carolina Ribas Leão, Eduardo Balsanelli, Liesbeth Lebbe, Maarten Aerts, Anne Willems, Fatima Maria de Souza Moreira
Four strains of rhizobia isolated from nodules of Vigna unguiculata (UFLA03-321(T), UFLA03-320 and UFLA03-290) and Macroptilium atropurpureum (UFLA04-0212) in Brazilian soils were previously reported as a new group within the genus Bradyrhizobium. To determine their taxonomic position, these strains were characterized in this study using a polyphasic approach. The analysis of the 16S rRNA gene grouped the four strains with Bradyrhizobium pachyrhizi PAC48(T). However, the concatenated sequence analysis of the two (recA and glnII) or three (atpD, gyrB and recA) housekeeping genes indicated that these strains represent a novel species of Bradyrhizobium, which is very closely related to B...
May 27, 2017: Archives of Microbiology
https://www.readbyqxmd.com/read/28551651/complete-reversion-of-familial-adenomatous-polyposis-phenotype-associated-with-tacrolimus-and-mycophenolate-mofetil-treatment-following-kidney-transplantation
#6
Vered Pinsk, Ilia Pinsk, Galina Ling, Baruch Yerushalmi, Lidia Osyntsov, Eduard Ling
Numerous germline mutations in the adenomatous polyposis coli (APC) tumor-suppressor gene are responsible for development of multiple adenomatous colorectal polyps with their inevitable progression to cancer. Multiple attempts at dietary and pharmacological prevention of colorectal carcinoma development in patients with familial adenomatous polyposis (FAP) have provided conflicting results. Immunosuppressive treatment with tacrolimus is known to be associated with an increased risk of malignancy and should be avoided in patients with high propensity for development of neoplasia...
June 2017: Anticancer Research
https://www.readbyqxmd.com/read/28551639/a-novel-near-infrared-fluorescent-protein-irfp720-facilitates-transcriptional-profiling-of-prostate-cancer-bone-metastasis-in-mice
#7
Mariko Honda, Satomi Yogosawa, Minori Kamada, Yuko Kamata, Takahiro Kimura, Yusuke Koike, Toru Harada, Hiroyuki Takahashi, Shin Egawa, Kiyotsugu Yoshida
BACKGROUND: Bone represents a frequent site of prostate cancer metastasis. As the molecular mechanism remains unclear, an accessible animal model is required. MATERIALS AND METHODS: We established a novel murine metastasis model using near-infrared fluorescent protein iRFP720-labelled prostate cancer (PC3) cells. To clarify transcriptional alterations during metastasis, iRFP720-PC3 cells were intracardially injected into male mice. mRNA expression profiles of metastasis in bone using marrow cancer cells extracted by centrifugal separation and cell sorting were compared with those of parental cells by microarray...
June 2017: Anticancer Research
https://www.readbyqxmd.com/read/28551545/cytotoxicity-of-temozolomide-on-human-glioblastoma-cells-is-enhanced-by-the-concomitant-exposure-to-an-extremely-low-frequency-electromagnetic-field-100hz-100g
#8
Zeinab Akbarnejad, Hossein Eskandary, Luciana Dini, Cristian Vergallo, Seyed Noureddin Nematollahi-Mahani, Alireza Farsinejad, Maryam Fekri Soofi Abadi, Meysam Ahmadi
Glioblastoma multiforme (GBM) is the most malignant brain cancer that causes high mortality in humans. It responds poorly to the most common cancer treatments, such as surgery, chemo- and radiation therapy. Temozolomide (TMZ) is an alkylating agent that has been widely used to treat GBM; resistance to this drug is often found. One unexplored possibility for overcoming this resistance is a treatment based on concomitant exposure to electromagnetic fields (EMF) and TMZ. Indeed, many evidences show that EMF affects cancer cells and drug performance...
May 24, 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/28551381/a-specific-mutational-signature-associated-with-dna-8-oxoguanine-persistence-in-mutyh-defective-colorectal-cancer
#9
Alessandra Viel, Alessandro Bruselles, Ettore Meccia, Mara Fornasarig, Michele Quaia, Vincenzo Canzonieri, Eleonora Policicchio, Emanuele Damiano Urso, Marco Agostini, Maurizio Genuardi, Emanuela Lucci-Cordisco, Tiziana Venesio, Aline Martayan, Maria Grazia Diodoro, Lupe Sanchez-Mete, Vittoria Stigliano, Filomena Mazzei, Francesca Grasso, Alessandro Giuliani, Marta Baiocchi, Roberta Maestro, Giuseppe Giannini, Marco Tartaglia, Ludmil B Alexandrov, Margherita Bignami
8-Oxoguanine, a common mutagenic DNA lesion, generates G:C>T:A transversions via mispairing with adenine during DNA replication. When operating normally, the MUTYH DNA glycosylase prevents 8-oxoguanine-related mutagenesis by excising the incorporated adenine. Biallelic MUTYH mutations impair this enzymatic function and are associated with colorectal cancer (CRC) in MUTYH-Associated Polyposis (MAP) syndrome. Here, we perform whole-exome sequencing that reveals a modest mutator phenotype in MAP CRCs compared to sporadic CRC stem cell lines or bulk tumours...
April 13, 2017: EBioMedicine
https://www.readbyqxmd.com/read/28551284/the-nuclear-hormone-receptor-gene-nr2c1-tr2-is-a-critical-regulator-of-early-retina-cell-patterning
#10
Ana Maria Olivares, Yinan Han, David Soto, Kyle Flattery, Joseph Marini, Nissa Molemma, Ali Haider, Pascal Escher, Margaret M DeAngelis, Neena B Haider
Nuclear hormone receptors play a major role in the development of many tissues. This study uncovers a novel role for testicular receptor 2 (Tr2, Nr2c1) in defining the early phase of retinal development and regulating normal retinal cell patterning and topography. The mammalian retina undergoes an overlapping yet biphasic period of development to generate all seven retinal cell types. We discovered that Nr2c1 expression coincides with development of the early retinal cells. Loss of Nr2c1 causes a severe vision deficit and impacts early, but not late retina cell types...
May 24, 2017: Developmental Biology
https://www.readbyqxmd.com/read/28551269/biochemical-properties-and-application-of-a-novel-%C3%AE-1-3-1-4-glucanase-from-paenibacillus-barengoltzii
#11
Bin Zhang, Yu Liu, Hongye Yang, Qiaojuan Yan, Shaoqing Yang, Zheng-Qiang Jiang, Shaozhen Li
A novel endo-β-1,3-1,4-glucanase gene (PbBglu16A) was cloned from Paenibacillus barengoltzii and heterogeneously expressed in Escherichia coli. The recombinant β-1,3-1,4-glucanase (PbBglu16A) was purified to homogeneity with a recovery yield of 78.6% and a specific activity of 431.8Umg(-1). The molecular mass of PbBglu16A was estimated to be 44.0kDa by SDS-PAGE. The optimal pH and temperature of PbBglu16A were 6.0 and 55°C, respectively. The enzyme was stable within pH 3.5-9.0 and up to 55°C. PbBglu16A exhibited high substrate specificity towards barley β-glucan, oat β-glucan and lichenin...
November 1, 2017: Food Chemistry
https://www.readbyqxmd.com/read/28550974/eliminating-hiv-1-packaging-sequences-from-lentiviral-vector-proviruses-enhances-safety-and-expedites-gene-transfer-for-gene-therapy
#12
Conrad A Vink, John R Counsell, Dany P Perocheau, Rajvinder Karda, Suzanne M K Buckley, Martijn H Brugman, Melanie Galla, Axel Schambach, Tristan R McKay, Simon N Waddington, Steven J Howe
Lentiviral vector genomic RNA requires sequences that partially overlap wild-type HIV-1 gag and env genes for packaging into vector particles. These HIV-1 packaging sequences constitute 19.6% of the wild-type HIV-1 genome and contain functional cis elements that potentially compromise clinical safety. Here, we describe the development of a novel lentiviral vector (LTR1) with a unique genomic structure designed to prevent transfer of HIV-1 packaging sequences to patient cells, thus reducing the total HIV-1 content to just 4...
May 17, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28550758/platelets-and-hemophilia-a-review-of-the-literature
#13
REVIEW
Julia Riedl, Cihan Ay, Ingrid Pabinger
Hemophilia A and B are inherited bleeding disorders due to deficiencies of the clotting factors VIII and IX, respectively. The severity of the disease correlates with remaining factor levels, although individual differences in bleeding tendency are seen despite similar factor levels. While thrombin generation is severely impaired in persons with hemophilia, primary hemostasis, i.e. platelet function, has been generally considered to be normal. However, some studies reported prolonged bleeding times in hemophilia, suggesting that also primary hemostasis is affected...
May 13, 2017: Thrombosis Research
https://www.readbyqxmd.com/read/28550683/oncogenic-role-of-microrna-30b-5p-in-glioblastoma-through-targeting-proline-rich-transmembrane-protein-2
#14
Zhongjun Li, Junxiu Guo, Yujie Ma, Zhixiong Lin, Longbo Zhang
MicroRNAs (miRs) have been found to play promoting or suppressive roles in different human cancers. However, the exactregulatory mechanism of miR-30b in glioblastoma still remains unknown. Here we showed that the expression of miR-30b was significantly increased in glioblastoma tissues and cell lines. Moreover, high expression of miR-30b was significantly associated with shorter survival time of glioblastoma patients. Knockdown of miR-30b caused a significant reduction in the proliferation, migration, and invasion of U87 and A172 cells...
May 17, 2017: Oncology Research
https://www.readbyqxmd.com/read/28550492/microrna-889-is-downregulated-by-histone-deacetylase-inhibitors-and-confers-resistance-to-natural-killer-cytotoxicity-in-hepatocellular-carcinoma-cells
#15
Haitao Xie, Qiugui Zhang, Hui Zhou, Jun Zhou, Ji Zhang, Yan Jiang, Jinghong Wang, Xianglin Meng, Leping Zeng, Xiaoxin Jiang
Major histocompatibility complex class I chain-related gene B (MICB) is expressed on tumor cells and participates in natural killer (NK) cell-mediated antitumor immune response through engagement with the NKG2D receptor. This study was undertaken to identify novel microRNA (miRNA) regulators of MICB and clarify their functions in NK cell-mediated cytotoxicity to hepatocellular carcinoma (HCC) cells. Bioinformatic analysis and luciferase reporter assay were conducted to search for MICB-targeting miRNAs. Overexpression and knockdown experiments were performed to determine the roles of candidate miRNAs in the susceptibility of HCC cells to NK lysis...
May 26, 2017: Cytotechnology
https://www.readbyqxmd.com/read/28550345/bacillus-zanthoxyli-sp-nov-a-novel-nematicidal-bacterium-isolated-from-chinese-red-pepper-zanthoxylum-bungeanum-maxim-leaves-in-china
#16
Ma Li, Cao Yong Hong, Wang Xiao Yan, Zheng Shuai Chao, Yang Cheng Gang, Duo Jin Ling, Zhou Xing Kui, Xi Jia Qin, Zhu Ming Liang, Mo Ming He
A novel strain, 1433(T), was isolated from leaves of Chinese red pepper (Huajiao, Zanthoxylum bungeanum Maxim) collected from Gansu province in northwestern China, and was characterised by a polyphasic approach. Cells of strain 1433(T) were observed to be Gram-stain positive, aerobic, asporogenous, rod shaped, motile and to have peritrichous flagella. The strain was observed to grow at a range of temperatures and pH, 4-45 °C (optimum 28-32 °C) and 6.0-10.0 (optimum pH 6.0-7.0), respectively. Growth was found to occur in the presence of 0-7% (w/v) NaCl [optimum 0-3% (w/v)]...
May 26, 2017: Antonie Van Leeuwenhoek
https://www.readbyqxmd.com/read/28550310/a-to-i-editing-in-human-mirnas-is-enriched-in-seed-sequence-influenced-by-sequence-contexts-and-significantly-hypoedited-in-glioblastoma-multiforme
#17
Deepanjan Paul, Ashis Narayan Sinha, Arjun Ray, Megha Lal, Subhashree Nayak, Anchal Sharma, Bharati Mehani, Debasish Mukherjee, Saurabh V Laddha, Ashish Suri, Chitra Sarkar, Arijit Mukhopadhyay
Editing in microRNAs, particularly in seed can significantly alter the choice of their target genes. We show that out of 13 different human tissues, different regions of brain showed higher adenosine to inosine (A-to-I) editing in mature miRNAs. These events were enriched in seed sequence (73.33%), which was not observed for cytosine to uracil (17.86%) editing. More than half of the edited miRNAs showed increased stability, 72.7% of which had ΔΔG values less than -6.0 Kcal/mole and for all of them the edited adenosines mis-paired with cytosines on the pre-miRNA structure...
May 26, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28550247/two-novel-mutations-in-the-first-transmembrane-domain-of-presenilin1-cause-young-onset-alzheimer-s-disease
#18
Collin Y Liu, Yu Ohki, Taisuke Tomita, Satoko Osawa, Bruce R Reed, William Jagust, Victoria Van Berlo, Lee-Way Jin, Helena C Chui, Giovanni Coppola, John M Ringman
BACKGROUND: The presenilin-1 protein (PS1) is the catalytic unit of γ-secretase implicated in the production of abnormally long forms of amyloid-β (Aβ), including Aβ42, proteins thought critical in the pathogenesis of Alzheimer's disease (AD). In AD of autosomal dominant inheritance, the majority of pathogenic mutations have been found in the PSEN1 gene within which the location of the mutation can provide clues as to the mechanism of pathogenesis. OBJECTIVE: To describe clinical features of two novel mutations in the transmembrane portion 1 (TMD-1) of PSEN1 as well as biochemical features in one and neuropathological findings in the other...
May 25, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28550180/a-novel-de-novo-mutation-in-prkag2-gene-infantile-onset-phenotype-and-signaling-pathway-involved
#19
Yanchun Xu, Alex Gray, David Grahame Hardie, Alper Uzun, Sunil Shaw, James F Padbury, Chanika Phornphutkul, Yi-Tang Tseng
PRKAG2 encodes the γ2-subunit isoform of the 5' AMP-activated protein kinase (AMPK), a heterotrimeric enzyme with major roles in regulation of energy metabolism in response to cellular stress. Mutations in PRKAG2 have been implicated in a unique hypertrophic cardiomyopathy (HCM) characterized by cardiac glycogen overload, ventricular preexcitation and hypertrophy. We identified a novel, de novo PRKAG2 mutation (K475E) in a neonate with prenatal onset of HCM. We aimed to investigate the cellular impact, signaling pathways involved and therapeutic options for K475E mutation using cells stably expressing human wild type (WT) or the K475E mutant...
May 26, 2017: American Journal of Physiology. Heart and Circulatory Physiology
https://www.readbyqxmd.com/read/28550123/essential-role-for-histone-deacetylase-11-hdac11-in-neutrophil-biology
#20
Eva Sahakian, Jie Chen, John J Powers, Xianghong Chen, Kamira Maharaj, Susan L Deng, Maritza Lienlaf, Hong Wei Wang, Fengdong Cheng, Andressa L Sodré, Allison Distler, Limin Xing, Patricio Perez-Villarroel, Sheng Wei, Alejandro Villagra, Ed Seto, Eduardo M Sotomayor, Pedro Horna, Javier Pinilla-Ibarz
Epigenetic changes in chromatin structure have been recently associated with the deregulated expression of critical genes in normal and malignant processes. HDAC11, the newest member of the HDAC family of enzymes, functions as a negative regulator of IL-10 expression in APCs, as previously described by our lab. However, at the present time, its role in other hematopoietic cells, specifically in neutrophils, has not been fully explored. In this report, for the first time, we present a novel physiologic role for HDAC11 as a multifaceted regulator of neutrophils...
May 26, 2017: Journal of Leukocyte Biology
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