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https://www.readbyqxmd.com/read/29680649/an-initiator-codon-mutation-in-sde2-causes-recessive-embryonic-lethality-in-holstein-cattle
#1
Sébastien Fritz, Chris Hoze, Emmanuelle Rebours, Anne Barbat, Méline Bizard, Amanda Chamberlain, Clémentine Escouflaire, Christy Vander Jagt, Mekki Boussaha, Cécile Grohs, Aurélie Allais-Bonnet, Maëlle Philippe, Amélie Vallée, Yves Amigues, Benjamin J Hayes, Didier Boichard, Aurélien Capitan
Researching depletions in homozygous genotypes for specific haplotypes among the large cohorts of animals genotyped for genomic selection is a very efficient strategy to map recessive lethal mutations. In this study, by analyzing real or imputed Illumina BovineSNP50 (Illumina Inc., San Diego, CA) genotypes from more than 250,000 Holstein animals, we identified a new locus called HH6 showing significant negative effects on conception rate and nonreturn rate at 56 d in at-risk versus control mating. We fine-mapped this locus in a 1...
April 18, 2018: Journal of Dairy Science
https://www.readbyqxmd.com/read/29677349/repeat-associated-non-atg-ran-translation-in-fuchs-endothelial-corneal-dystrophy
#2
Elisabetta Soragni, Lina Petrosyan, Tommy A Rinkoski, Eric D Wieben, Keith H Baratz, Michael P Fautsch, Joel M Gottesfeld
Purpose: The strongest genetic association with Fuchs' endothelial corneal dystrophy (FECD) is the presence of an intronic (CTG·CAG)n trinucleotide repeat (TNR) expansion in the transcription factor 4 (TCF4) gene. Repeat-associated non-ATG (RAN) translation, an unconventional protein translation mechanism that does not require an initiating ATG, has been described in many TNR expansion diseases, including myotonic dystrophy type 1 (DM1). Given the similarities between DM1 and FECD, we wished to determine whether RAN translation occurs in FECD...
April 1, 2018: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29674849/single-nucleotide-polymorphisms-related-to-fluoroquinolone-and-aminoglycoside-resistance-in-mycobacterium-avium-isolates
#3
Hui Pang, Kanglin Wan, Lin Wei
Objective: The relationships between fluoroquinolone and aminoglycoside resistance and single-nucleotide polymorphisms (SNPs) in gyrA , gyrB , and rpsL genes were investigated in 95 clinical isolates of Mycobacterium avium from China. Methods: Fluoroquinolone and aminoglycoside resistance were determined by the broth microdilution method. GyrA , gyrB , and rpsL were sequenced, SNPs were identified, and the corresponding amino acid mutations were recorded. Results: The M...
2018: Infection and Drug Resistance
https://www.readbyqxmd.com/read/29671346/insulin-resistance-is-associated-with-larger-thyroid-volume-in-adults-with-type-1-diabetes-independently-from-presence-of-thyroid-autoimmunity
#4
Anita Rogowicz-Frontczak, Stanislaw Pilacinski, Anna Teresa Chwialkowska, Dariusz Naskret, Dorota Zozulinska-Ziolkiewicz
To investigate the effect of insulin resistance (IR) on thyroid function, thyroid autoimmunity (AIT) and thyroid volume in type 1 diabetes (T1DM). 100 consecutive patients with T1DM aged 29 (±6) years with diabetes duration 13 (±6) years were included. Exclusion criteria were: history of thyroid disease, current treatment with L-thyroxin or anti-thyroid drugs. Evaluation of thyroid stimulating hormone (TSH), free thyroid hormones and anti-thyroid antibodies was performed. Thyroid volume was measured by ultrasonography...
April 19, 2018: Scandinavian Journal of Clinical and Laboratory Investigation
https://www.readbyqxmd.com/read/29670225/il-13-may-be-involved-in-the-development-of-cad-via-different-mechanisms-under-different-conditions-in-a-chinese-han-population
#5
Ling-Feng Zha, Shao-Fang Nie, Qian-Wen Chen, Yu-Hua Liao, Hong-Song Zhang, Jiang-Tao Dong, Tian Xie, Fan Wang, Ting-Ting Tang, Ni Xia, Cheng-Qi Xu, Ying-Chao Zhou, Zhi-Peng Zeng, Jiao Jiao, Peng-Yun Wang, Qing K Wang, Xin Tu, Xiang Cheng
Interleukin-13 (IL-13) has important functions in atherosclerosis, but its role in coronary artery disease (CAD) is unclear. Here, we studied the genetic role of IL-13 in CAD in a Chinese Han population using tag SNPs covering the whole IL13 gene (i.e., rs1881457, rs2069744 and rs20541) and a two-stage cohort containing 1863 CAD cases and 1841 controls. Traditional risk factors for CAD, such as age, BMI, and other factors, were used as covariates in logistic regression analysis. In the total population, we found that two haplotypes of IL13 (ATG and ATA, ordered rs1881457C -rs2069744T -rs20541A ) significantly contributed to the risk of CAD with adjusted p values less than 0...
April 18, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29665928/-clinical-characteristics-treatment-and-prognosis-of-ptld-after-allogeneic-hematopoietic-stem-cell-transplantation
#6
Zhan-Xiang Liu, Wen-Rong Huang, Meng Li, Zhen-Yang Gu, Cheng-Ying Zhu, Ning Lu, Sheng Yao, Shu-Hong Wang, Fei Li, Xiao-Ning Gao, Dai-Hong Liu, Chun-Ji Gao
OBJECTIVE: To study the clinical characteristics of patients with post-transplantation lymphoproliferative disease (PTLD) after allogeneic peripheral blood hematopoietic stem cell transplantation, and to improve the understanding and diagnosis of PTLD. METHODS: The clinical data of 244 patients underwent allogeneic hematopoietic stem cell transplantation in the General Hospital of PLA from May 2014 to April 2017 were analyzed retrospectively. The follow-up time was up to November 30, 2017...
April 2018: Zhongguo Shi Yan Xue Ye Xue za Zhi
https://www.readbyqxmd.com/read/29663049/promoter-engineering-of-cascade-biocatalysis-for-%C3%AE-ketoglutaric-acid-production-by-coexpressing-l-glutamate-oxidase-and-catalase
#7
Jing Wu, Xiangchen Fan, Jia Liu, Qiuling Luo, Jisi Xu, Xiulai Chen
Enzymatic transformation is now an attractive alternative for α-ketoglutaric acid (α-KG) production, but the oxidative deamination from L-glutamic acid to α-KG is along with H2 O2 accumulation. To remove the effect of H2 O2 on α-KG production, in vitro cascade biocatalysis was designed using the purified L-glutamate oxidase (LGOX) from Streptomyces ghanaensis and catalase (KatG) from Escherichia coli W3110, and the optimal ratio of LGOX:KatG (2.0:1250) was detected in this system. To achieve this ratio, in vivo cascade biocatalysis was constructed by varying promoters and ribosome binding sites (RBSs), and optimized by promoter engineering, such as adjusting the junctions between the SD sequence and start codon ATG and tuning the strengths of RBSs...
April 16, 2018: Applied Microbiology and Biotechnology
https://www.readbyqxmd.com/read/29662245/early-human-cytomegalovirus-reactivation-is-associated-with-lower-incidence-of-relapse-of-myeloproliferative-disorders-after-allogeneic-hematopoietic-stem-cell-transplantation
#8
Zinaida Peric, Jonas Wilson, Nadira Durakovic, Alen Ostojic, Lana Desnica, Violeta Rezo Vranjes, Ivana Marekovic, Ranka Serventi-Seiwerth, Radovan Vrhovac
Conflicting results have been reported regarding the association between early cytomegalovirus (CMV) reactivation and relapse after allogeneic hematopoietic stem cell transplantation (allo-HSCT). This prompted us to evaluate the impact of CMV reactivation on outcomes of 155 consecutive adult patients transplanted in our institution. In our study, CMV reactivation did not affect cumulative incidence (CI) of relapse in patients with lymphoproliferative disorders. However, the CI of relapse in patients with myeloproliferative disorders (AML and MPN) was 37% (95% CI, 21-53) in patients without CMV reactivation as opposed to 17% (95% CI, 9-28) in patients with CMV reactivation (p = 0...
April 16, 2018: Bone Marrow Transplantation
https://www.readbyqxmd.com/read/29661208/unmanipulated-haploidentical-in-comparison-with-matched-unrelated-donor-stem-cell-transplantation-in-patients-60-years-and-older-with-acute-myeloid-leukemia-a-comparative-study-on-behalf-of-the-alwp-of-the-ebmt
#9
Nicole Santoro, Myriam Labopin, Federica Giannotti, Gerard Ehninger, Dietger Niederwieser, Arne Brecht, Matthias Stelljes, Nicolaus Kröger, Herman Einsele, Matthias Eder, Michael Hallek, Bertram Glass, Jürgen Finke, Fabio Ciceri, Mohamad Mohty, Annalisa Ruggeri, Arnon Nagler
BACKGROUND: Acute myeloid leukemia (AML) is both more common and with more biologically aggressive phenotype in the elderly. Allogenic stem cell transplantation (allo-SCT) is the best treatment option in fit patients. Either HLA-matched unrelated donor (MUD) or haploidentical (Haplo) donor are possible alternative for patients in need. METHODS: We retrospectively compared non-T-cell-depleted Haplo (n = 250) to 10/10 MUD (n = 2589) in AML patients ≥ 60 years...
April 16, 2018: Journal of Hematology & Oncology
https://www.readbyqxmd.com/read/29660556/comparative-analysis-of-ancylostoma-ceylanicum-mitochondrial-genome-with-other-ancylostoma-species
#10
Xianli Shi, Mingwei Wang, A Y Abdullahi, Yeqi Fu, Fang Yang, Xingang Yu, Weida Pan, Xinxin Yan, Jianxiong Hang, Pan Zhang, Guoqing Li
Ancylostoma ceylanicum may inhabit the small intestine of canids, felids and humans, can pose a potential risk to public health. This study is the first time to amplify complete mitochondrial genome sequence of A. ceylanicum from dog and to compare it with Ancylostoma tubaeforme, Ancylostoma duodenale and Ancylostoma caninum. The results showed that the complete mitochondrial genome of A. ceylanicum was 13,660 bp in length, including 12 protein-coding genes, 2 rRNA genes and 22 tRNA genes and 3 non-coding regions (AT-rich region, SNCR and LNCR)...
April 13, 2018: Infection, Genetics and Evolution
https://www.readbyqxmd.com/read/29655680/panduratin-a-induces-protective-autophagy-in-melanoma-via-the-ampk-and-mtor-pathway
#11
Siew-Li Lai, Mohd Rais Mustafa, Pooi-Fong Wong
BACKGROUND: Targeting autophagy is emerging as a promising strategy in cancer therapeutics in recent years. Autophagy can be modulated to drive cancer cell deaths that are notoriously resistant to apoptotic-inducing drugs. In addition, autophagy has been implicated as a prosurvival mechanism in mediating cancer chemoresistance. Our previous study has demonstrated that Panduratin A (PA), a plant-derived active compound exploits ER-stress-mediated apoptosis as its cytotoxic mechanism on melanoma...
March 15, 2018: Phytomedicine: International Journal of Phytotherapy and Phytopharmacology
https://www.readbyqxmd.com/read/29653435/functional-characterization-of-the-gene-promoter-for-an-elaeis-guineensis-phosphate-starvation-inducible-high-affinity-phosphate-transporter-in-both-homologous-and-heterologous-model-systems
#12
Farzaneh Ahmadi, Siti Nor Akmar Abdullah, Saeid Kadkhodaei, Siti Mariyam Ijab, Luqman Hamzah, Maheran Abdul Aziz, Zaharah A Rahman, Sharifah Shahrul Rabiah Syed Alwee
Oil palm is grown in tropical soils with low bioavailability of Pi. A cDNA clone specifically expressed under phosphate-starvation condition in oil palm roots was identified as a high-affinity phosphate transporter (EgPHT1). The deduced amino acid sequence has 6 transmembrane domains each at the N- and C-termini separated by a hydrophilic linker. Comparison of promoter motifs within 1500 bp upstream of ATG of 10 promoters from high- and low-affinity phosphate transporter from both dicots and monocots including EgPHT1 was performed...
April 9, 2018: Plant Physiology and Biochemistry: PPB
https://www.readbyqxmd.com/read/29651536/septin-localization-and-function-during-autophagy
#13
REVIEW
Gaurav Barve, Priyadarshini Sanyal, Ravi Manjithaya
Autophagy is a vital conserved recycling process where eukaryotic cells remove unwanted proteins and organelles via lysosomal degradation and in turn, generate nutrients for the cells. The special feature of autophagy process is the formation of double-membrane vesicles called autophagosomes that engulf cellular cargo and deliver them to the vacuole or lysosomes for degradation. Inspite of more than 40 AuTophaGy (ATG) proteins and several organelles as known membrane source, autophagosome biogenesis is not entirely understood...
April 12, 2018: Current Genetics
https://www.readbyqxmd.com/read/29628370/the-er-contact-proteins-vapa-b-interact-with-multiple-autophagy-proteins-to-modulate-autophagosome-biogenesis
#14
Yan G Zhao, Nan Liu, Guangyan Miao, Yong Chen, Hongyu Zhao, Hong Zhang
The endoplasmic reticulum (ER) is the site of biogenesis of the isolation membrane (IM, autophagosome precursor) and forms extensive contacts with IMs during their expansion into double-membrane autophagosomes. Little is known about the molecular mechanism underlying the formation and/or maintenance of the ER/IM contact. The integral ER proteins VAPA and VAPB (VAPs) participate in establishing ER contacts with multiple membranes by interacting with different tethers. Here, we demonstrate that VAPs also modulate ER/IM contact formation...
March 31, 2018: Current Biology: CB
https://www.readbyqxmd.com/read/29618829/the-genetic-diversity-within-the-1-4-kb-hla-g-5-upstream-regulatory-region-moderately-impacts-on-cellular-microenvironment-responses
#15
Fabrício C Dias, Bruna C Bertol, Isabelle Poras, Bruno M Souto, Celso T Mendes-Junior, Erick C Castelli, Laure Gineau, Audrey Sabbagh, Nathalie Rouas-Freiss, Edgardo D Carosella, Eduardo A Donadi, Philippe Moreau
The HLA-G 5'URR extending 1.4 kb from the ATG presents a unique set of regulatory elements among HLA genes. Several variable sites have been described that coincide with or are close to these elements, thus HLA-G 5'URR polymorphism might influence the HLA-G expression level. We cloned the ten most frequent HLA-G 5'URR haplotypes to evaluate their activity on a luciferase reporter gene in HLA-G+ cell lines (JEG-3/choriocarcinoma and FON+ /melanoma). We also investigated associations between the plasma HLA-G (sHLA-G) levels and the HLA-G 5'URR variability in 157 healthy individuals...
April 4, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29608909/activation-of-autophagy-by-stress-activated-signals-as-a-cellular-self-defense-mechanism-against-the-cytotoxic-effects-of-mbic-in-human-breast-cancer-cells-in-vitro
#16
Mohadeseh Hasanpourghadi, Nazia Abdul Majid, Mohd Rais Mustafa
We recently reported that methyl 2-(-5-fluoro-2-hydroxyphenyl)-1H-benzo[d]imidazole-5-carboxylate (MBIC) is a microtubule targeting agent (MTA) with multiple mechanisms of action including apoptosis in two human breast cancer cell-lines MCF-7 and MDA-MB-231. In the present study, investigation of early molecular events following MBIC treatment demonstrated the induction of autophagy. This early (< 24 h) response to MBIC was characterized by accumulation of autophagy markers; LC3-II, Beclin1, autophagic proteins (ATGs) and collection of autophagosomes but with different variations in the two cell-lines...
March 30, 2018: Biochemical Pharmacology
https://www.readbyqxmd.com/read/29608706/risks-and-outcomes-of-invasive-fungal-infections-in-pediatric-allogeneic-hematopoietic-stem-cell-transplant-recipients-receiving-fluconazole-prophylaxis-a-multicenter-cohort-study-by-the-turkish-pediatric-bone-marrow-transplantation-study-group
#17
Volkan Hazar, Gülsün Tezcan Karasu, Vedat Uygun, Gülyüz Öztürk, Suar Çaki Kiliç, Alphan Küpesiz, Hayriye Daloglu, Serap Aksoylar, Didem Atay, Elif Ünal Ince, Musa Karakükçü, Namik Özbek, Funda Tayfun, Savas Kansoy, Emel Özyürek, Arzu Akçay, Orhan Gürsel, Sule Haskologlu, Zühre Kaya, Sebnem Yilmaz, Atila Tanyeli, Akif Yesilipek
Invasive fungal infections (IFIs) are a major cause of infection-related morbidity and mortality in patients undergoing allogeneic hematopoietic stem cell transplantation (HSCT). Data from pediatric settings are scarce. To determine the incidence, risk factors and outcomes of IFIs in a 180-day period post-transplantation, 408 pediatric patients who underwent allogeneic HSCT were retrospectively analyzed. The study included only proven and probable IFIs. The cumulative incidences of IFI were 2.7%, 5.0%, and 6...
March 27, 2018: Medical Mycology: Official Publication of the International Society for Human and Animal Mycology
https://www.readbyqxmd.com/read/29606597/the-torc1-regulated-cpa-complex-rewires-an-rna-processing-network-to-drive-autophagy-and-metabolic-reprogramming
#18
Hong-Wen Tang, Yanhui Hu, Chiao-Lin Chen, Baolong Xia, Jonathan Zirin, Min Yuan, John M Asara, Leonard Rabinow, Norbert Perrimon
Nutrient deprivation induces autophagy through inhibiting TORC1 activity. We describe a novel mechanism in Drosophila by which TORC1 regulates RNA processing of Atg transcripts and alters ATG protein levels and activities via the cleavage and polyadenylation (CPA) complex. We show that TORC1 signaling inhibits CDK8 and DOA kinases, which directly phosphorylate CPSF6, a component of the CPA complex. These phosphorylation events regulate CPSF6 localization, RNA binding, and starvation-induced alternative RNA processing of transcripts involved in autophagy, nutrient, and energy metabolism, thereby controlling autophagosome formation and metabolism...
March 16, 2018: Cell Metabolism
https://www.readbyqxmd.com/read/29605770/p-coumaric-acid-mediated-protection-of-h9c2-cells-from-doxorubicin-induced-cardiotoxicity-involvement-of-augmented-nrf2-and-autophagy
#19
Mary Chacko Sunitha, Radhakrishnan Dhanyakrishnan, Bhaskara PrakashKumar, Kottayath Govindan Nevin
Doxorubicin (Dox) is a widely administered chemotherapeutic drug and incidences of cardiotoxicity associated with its administration have been of general concern. Extensive research proposes several mechanisms as a cause of Dox induced cardiotoxicity. However, none of these studies have been able to suggest a find one, cure all antidote for the same. To this end, several studies involving plant based compounds or natural products have gained acclaim for their ability to address at least one factor contributing to drug induced pathogenesis...
March 29, 2018: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/29603136/anti-thymocyte-globulin-improves-survival-free-from-relapse-and-graft-versus-host-disease-after-allogeneic-peripheral-blood-stem-cell-transplantation-in-patients-with-philadelphia-negative-acute-lymphoblastic-leukemia-an-analysis-by-the-acute-leukemia-working
#20
Tomasz Czerw, Myriam Labopin, Sebastian Giebel, Gérard Socié, Liisa Volin, Nathalie Fegueux, Tamás Masszi, Didier Blaise, Sridhar Chaganti, Jan J Cornelissen, Jakob Passweg, Johan Maertens, Maija Itälä-Remes, Depei Wu, Mohamad Mohty, Arnon Nagler
BACKGROUND: Mobilized peripheral blood stem cells are currently the predominant source of grafts for allogeneic transplantation (allogeneic peripheral blood stem cell transplantation [allo-PBSCT]), although, in comparison with bone marrow, their use is associated with an increased risk of chronic graft-versus-host disease (cGVHD). Attempts to reduce the incidence of cGVHD include the addition of anti-thymocyte globulin (ATG) to the pretransplant conditioning regimen. METHODS: The goal of this retrospective study was to analyze the effect of ATG on allo-PBSCT outcomes for adults with Philadelphia-negative acute lymphoblastic leukemia (Ph-neg ALL)...
March 30, 2018: Cancer
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