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https://www.readbyqxmd.com/read/29053887/low-foxg1-and-high-olig-2-labelling-indices-define-a-prognostically-favorable-subset-in-idh-mutant-gliomas
#1
Sarah Schäfer, Felix Behling, Marco Skardelly, Marilin Koch, Ines Ott, Frank Paulsen, Ghazaleh Tabatabai, Jens Schittenhelm
AIMS: Previous data suggest that expression of transcription factors FoxG1 and Olig-2 can separate hotspot H3F3A-mutant tumors in pediatric glioma. We evaluated their prognostic potential and feasibility for identifying H3F3A-mutant tumors among IDH-mutant/wildtype gliomas. METHODS: Immunohistochemistry of FoxG1/Olig-2 and ATRX in 471 cases of diffuse gliomas and molecular determination of IDH, H3F3A, MGMT and 1p/19 codeletion status. RESULTS: Mean percentage of FoxG1 positive tumor cells increased from 17% in WHO grade II to over 21% in grade III to 37% in grade IV tumors, while mean Olig-2 indices decreased from 29% to 28% to 17% respectively...
October 20, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/29053800/reply-genotype-phenotype-correlation-in-atad3a-deletions-not-just-of-scientific-relevance
#2
Ann E Frazier, Ian J Holt, Antonella Spinazzola, David R Thorburn
No abstract text is available yet for this article.
October 6, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29053797/genotype-phenotype-correlation-in-atad3a-deletions-not-just-of-scientific-relevance
#3
Cacha M P C D Peeters-Scholte, Phebe N Adama van Scheltema, Frans J C M Klumper, Sheila M P Everwijn, Marije Koopmans, Mariette J V Hoffer, Tamara T Koopmann, Claudia A L Ruivenkamp, Sylke J Steggerda, Marjo S van der Knaap, Gijs W E Santen
No abstract text is available yet for this article.
October 6, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29053766/tor1a-variants-cause-a-severe-arthrogryposis-with-developmental-delay-strabismus-and-tremor
#4
Ariana Kariminejad, Martin Dahl-Halvarsson, Gianina Ravenscroft, Fariba Afroozan, Elham Keshavarz, Hayley Goullée, Mark R Davis, Mehrshid Faraji Zonooz, Hossein Najmabadi, Nigel G Laing, Homa Tajsharghi
Autosomal dominant torsion dystonia-1 is a disease with incomplete penetrance most often caused by an in-frame GAG deletion (p.Glu303del) in the endoplasmic reticulum luminal protein torsinA encoded by TOR1A. We report an association of the homozygous dominant disease-causing TOR1A p.Glu303del mutation, and a novel homozygous missense variant (p.Gly318Ser) with a severe arthrogryposis phenotype with developmental delay, strabismus and tremor in three unrelated Iranian families. All parents who were carriers of the TOR1A variant showed no evidence of neurological symptoms or signs, indicating decreased penetrance similar to families with autosomal dominant torsion dystonia-1...
September 23, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29053708/ssn6-tup1-global-transcriptional-co-repressor-role-of-the-n-terminal-glutamine-rich-region-of-ssn6
#5
Athanassios Tartas, Christoforos Zarkadas, Maria Palaiomylitou, Niki Gounalaki, Dimitris Tzamarias, Metaxia Vlassi
The Ssn6-Tup1 complex is a general transcriptional co-repressor formed by the interaction of Ssn6, a tetratricopeptide repeat (TPR) protein, with the Tup1 repressor. We have previously shown that the N-terminal domain of Ssn6 comprising TPRs 1 to 3 is necessary and sufficient for this interaction and that TPR1 plays critical role. In a subsequent study, we provided evidence that in the absence of Tup1, TPR1 is susceptible to proteolysis and that conformational change(s) accompany the Ssn6-Tup1 complex formation...
2017: PloS One
https://www.readbyqxmd.com/read/29053707/high-glucose-augments-angiotensinogen-in-human-renal-proximal-tubular-cells-through-hepatocyte-nuclear-factor-5
#6
Juan Wang, Yuki Shibayama, Hiroyuki Kobori, Ya Liu, Hideki Kobara, Tsutomu Masaki, Zhiyu Wang, Akira Nishiyama
High glucose has been demonstrated to induce angiotensinogen (AGT) synthesis in the renal proximal tubular cells (RPTCs) of rats, which may further activate the intrarenal renin-angiotensin system (RAS) and contribute to diabetic nephropathy. This study aimed to investigate the effects of high glucose on AGT in the RPTCs of human origin and identify the glucose-responsive transcriptional factor(s) that bind(s) to the DNA sequences of AGT promoter in human RPTCs. Human kidney (HK)-2 cells were treated with normal glucose (5...
2017: PloS One
https://www.readbyqxmd.com/read/29053378/genetic-diversity-of-jiangsu-native-chicken-breeds-assessed-with-the-mitochondrial-dna-d-loop-region
#7
X X Jia, J X Lu, X J Tang, Y F Fan, S H Huang, Q L Ge, Y S Gao
1. The objective of this study was to determine the origin and evolution of chickens from 5 native breeds that are traditionally raised in Jiangsu Province. 2. The sequence of the mitochondrial D-loop has proven to be useful for studying population genetics and trace the origins of domestic animals. 3. To address this question, we analysed the complete mitochondrial DNA D-loop sequence of 149 chickens from 5 native breeds of Jiangsu Province. 4. Sequences read lengths of the native breeds were 1231 to 1232 bp, with a single-base deletion from the 859 bp site in the 1231 bp haplotype...
October 20, 2017: British Poultry Science
https://www.readbyqxmd.com/read/29053268/synthesis-pharmacology-and-molecular-modeling-studies-on-6-desoxo-n-methylmorphinans-as-potent-%C3%A2%C2%B5-opioid-receptor-agonists
#8
Maria Dumitrascuta, Tanila Ben Haddou, Elena Guerrieri, Stefan M Noha, Lea Schläfer, Helmut Schmidhammer, Mariana Spetea
Position 6 of the morphinan skeleton plays a key role on the µ-opioid receptor (MOR) activity in vitro and in vivo. We describe the consequence of the 6-carbonyl group deletion in N-methylmorphinan-6-ones 1-4 on ligand-MOR interaction, signaling and antinociception. While 6-desoxo compounds 1a, 2a and 4a show similar profiles to their 6-keto counterparts, the 6-desoxo-14-benzyloxy substituted 3a displays significantly increased MOR binding and agonist potency, and a distinct binding mode than its analogue 3...
October 20, 2017: Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/29053210/a-combination-of-mtap-and-bap1-immunohistochemistry-in-pleural-effusion-cytology-for-the-diagnosis-of-mesothelioma
#9
Yoshiaki Kinoshita, Tomoyuki Hida, Makoto Hamasaki, Shinji Matsumoto, Ayuko Sato, Tohru Tsujimura, Kunimitsu Kawahara, Kenzo Hiroshima, Yoshinao Oda, Kazuki Nabeshima
BACKGROUND: Homozygous deletion of 9p21 detected by fluorescence in situ hybridization (FISH) and loss of BRCA1-associated protein 1 (BAP1) expression detected by immunohistochemistry (IHC) are useful for the differentiation between malignant pleural mesothelioma (MPM) and reactive mesothelial hyperplasia. The authors previously described that IHC expression of the protein product of the methylthioadenosine phosphorylase (MTAP) gene, which is localized in the 9p21 chromosomal region, was correlated with the deletion status of 9p21 FISH in MPM tissues...
October 20, 2017: Cancer
https://www.readbyqxmd.com/read/29052918/contributions-of-recombination-and-repair-proteins-to-telomere-maintenance-in-telomerase-positive-and-negative-ustilago-maydis
#10
Eun Young Yu, Min Hsu, William K Holloman, Neal F Lue
Homologous recombination and repair factors are known to promote both telomere replication and recombination-based telomere extension. Herein we address the diverse contributions of several recombination/repair proteins to telomere maintenance in Ustilago maydis, a fungus that bears strong resemblance to mammals with respect to telomere regulation and recombination mechanisms. In telomerase-positive U. maydis, deletion of rad51 and blm separately caused shortened but stably maintained telomeres, whereas deletion of both engendered similar telomere loss, suggesting that the repair proteins help to resolve similar problems in telomere replication...
October 20, 2017: Molecular Microbiology
https://www.readbyqxmd.com/read/29052866/runx-mediated-growth-arrest-and-senescence-are-attenuated-by-diverse-mechanisms-in-cells-expressing-runx1-fusion-oncoproteins
#11
Gail Anderson, Nancy Mackay, Kathryn Gilroy, Jodie Hay, Gillian Borland, Alma McDonald, Margaret Bell, Siti Ayuni Hassanudin, Ewan Cameron, James C Neil, Anna Kilbey
RUNX gene over-expression inhibits growth of primary cells but transforms cells with tumor suppressor defects, consistent with reported associations with tumor progression. In contrast, chromosomal translocations involving RUNX1 are detectable in utero, suggesting an initiating role in leukemias. How do cells expressing RUNX1 fusion oncoproteins evade RUNX-mediated growth suppression? Previous studies showed that the TEL-RUNX1 fusion from t(12;21) B-ALLs is unable to induce senescence-like growth arrest (SLGA) in primary fibroblasts while potent activity is displayed by the RUNX1-ETO fusion found in t(8;21) AMLs...
October 20, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/29052614/narp-mediates-antidepressant-like-effects-of-electroconvulsive-seizures
#12
Andrew D Chang, Punit V Vaidya, Edward P Retzbach, Sunho J Chung, Urian Kim, Kathryn Baselice, Kristen Maynard, Alec Stepanian, Melissa Staley, Lan Xiao, Ashley Blouin, Sungho Han, JongAh Lee, Paul F Worley, Kellie L Tamashiro, Barbara L Hempstead, Keri Martinowich, Mary Ann Wilson, Jay M Baraban, Irving M Reti
Growing recognition of persistent cognitive defects associated with electroconvulsive therapy (ECT), a highly effective and commonly used antidepressant treatment, has spurred interest in identifying its mechanism of action to guide development of safer treatment options. However, as repeated seizure activity elicits a bewildering array of electrophysiological and biochemical effects, this goal has remained elusive. We have examined whether deletion of Narp, an immediate early gene induced by electroconvulsive seizures (ECS), blocks its antidepressant efficacy...
October 20, 2017: Neuropsychopharmacology: Official Publication of the American College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/29052235/establishment-of-a-markerless-multiple-gene-deletion-method-based-on-cre-loxp-mutant-system-for-bacillus-pumilus
#13
Zheng-Bing Guan, Kai-Qiang Wang, Yan Shui, Xiang-Ru Liao
In this study, we established a Cre/loxP mutant recombination system (Cre/lox71-66 system) for markerless gene deletion to facilitate our follow-up rational genetic engineering to the strain Bacillus pumilus W3. This modified method uses two mutant loxP sites, which after recombination creates a double-mutant loxP site that is poorly recognized by Cre recombinase, facilitating multiple gene deletions in a single genetic background. Two selected genes, cotA and sigF, were continuously knocked out and verified at different levels using this method...
October 20, 2017: Journal of Basic Microbiology
https://www.readbyqxmd.com/read/29052111/targeted-massively-parallel-sequencing-characterises-the-mutation-spectrum-of-palb2-in-breast-and-ovarian-cancer-cases-from-poland-and-ukraine
#14
Aleksander Myszka, Tu Nguyen-Dumont, Pawel Karpinski, Maria M Sasiadek, Hayane Akopyan, Fleur Hammet, Helen Tsimiklis, Daniel J Park, Bernard J Pope, Ryszard Slezak, Nataliya Kitsera, Aleksandra Siekierzynska, Melissa C Southey
Loss-of-function germline mutations in the PALB2 gene are associated with an increase of breast cancer risk. The purpose of this study was to characterise the spectrum of PALB2 mutations in women affected with breast or ovarian cancer from South-West Poland and West Ukraine. We applied Hi-Plex, an amplicon-based enrichment method for targeted massively parallel sequencing, to screen the coding exons and proximal intron-exon junctions of PALB2 in germline DNA from unrelated women affected with breast cancer (n = 338) and ovarian cancer (n = 89) from Poland (n = 304) and Ukraine (n = 123)...
October 19, 2017: Familial Cancer
https://www.readbyqxmd.com/read/29051910/cednik-phenotypic-and-molecular-characterization-of-an-additional-patient-and-review-of-the-literature
#15
Tina Hsu, Carrie C Coughlin, Kristin G Monaghan, Elise Fiala, Robert C McKinstry, Alex R Paciorkowski, Marwan Shinawi
Synaptosomal-associated protein 29 (SNAP29) is a t-SNARE protein that is implicated in intracellular vesicle fusion. Mutations in the SNAP29 gene have been associated with cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma syndrome (CEDNIK). In patients with 22q11.2 deletion syndrome, mutations in SNAP29 on the nondeleted chromosome are linked to similar ichthyotic and neurological phenotypes. Here, the authors report a patient with cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma syndrome who presented with global developmental delay, polymicrogyria, dysgenesis of the corpus callosum, optic nerve dysplasia, gaze apraxia, and dysmorphic features...
January 2017: Child neurology open
https://www.readbyqxmd.com/read/29051758/identification-of-yfih-and-the-catalase-cata-as-polyphenol-oxidases-of-aeromonas-media-and-cata-as-a-regulator-of-pigmentation-by-its-peroxyl-radical-scavenging-capacity
#16
Baozhong Chai, Yunqian Qiao, He Wang, Xiaoming Zhang, Jiao Wang, Choushi Wang, Ping Zhou, Xiangdong Chen
Pyomelanin is the major constituent of pigment in melanogenic Aeromonas strains of bacteria. However, eumelanin, synthesized from tyrosine via L-DOPA and polyphenol oxidases (PPOs), may also be present in this genus since L-DOPA is frequently detected in culture fluids of several species. To address this question, we used a deletion mutant of Aeromonas media strain WS, in which pyomelanin synthesis is completely blocked under normal culture conditions. When tyrosine was supplied to the medium, we observed residual melanin accumulation, which we interpret as evidence for existence of the DOPA-melanin pathway...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/29051754/a-cellular-fusion-cascade-regulated-by-laea-is-required-for-sclerotial-development-in-aspergillus-flavus
#17
Xixi Zhao, Joseph E Spraker, Jin Woo Bok, Thomas Velk, Zhu-Mei He, Nancy P Keller
Aspergillus flavus is a saprophytic soil fungus that poses a serious threat worldwide as it contaminates many food and feed crops with the carcinogenic mycotoxin called aflatoxin. This pathogen persists as sclerotia in the soil which enables fungal survival in harsh environmental conditions. Sclerotia formation by A. flavus depends on successful cell communication and hyphal fusion events. Loss of LaeA, a conserved developmental regulator in fungi, abolishes sclerotia formation in this species whereas overexpression (OE) of laeA results in enhanced sclerotia production...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/29051606/localization-of-tfpi-2-in-the-nucleus-modulates-mmp-2-gene-expression-in-breast-cancer-cells
#18
Guangli Wang, Yao Zeng, Shaoying Chen, Deling Li, Wei Li, Yanchun Zhou, Robert H Singer, Wei Gu
TFPI-2 has recently been recognized as a tumor suppressor, which not only plays a fundamental role in modulation of ECM integrity, but also involves the regulation of many oncogenes. In this study, we investigated the potential mechanism of TFPI-2 in the suppression of breast cancer growth and invasion. We showed that, with either over-expression of TFPI-2 or after treatment with exogenous rTFPI-2, breast cancer cells exhibited reduced proliferation and invasion. We demonstrated that in addition to being secreted, TFPI-2 was also distributed throughout the cytoplasm and nucleus...
October 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29051486/the-giant-protein-titin-regulates-the-length-of-the-striated-muscle-thick-filament
#19
Paola Tonino, Balazs Kiss, Josh Strom, Mei Methawasin, John E Smith, Justin Kolb, Siegfried Labeit, Henk Granzier
The contractile machinery of heart and skeletal muscles has as an essential component the thick filament, comprised of the molecular motor myosin. The thick filament is of a precisely controlled length, defining thereby the force level that muscles generate and how this force varies with muscle length. It has been speculated that the mechanism by which thick filament length is controlled involves the giant protein titin, but no conclusive support for this hypothesis exists. Here we show that in a mouse model in which we deleted two of titin's C-zone super-repeats, thick filament length is reduced in cardiac and skeletal muscles...
October 19, 2017: Nature Communications
https://www.readbyqxmd.com/read/29051382/destruction-and-reformation-of-an-iron-sulfur-cluster-during-catalysis-by-lipoyl-synthase
#20
Erin L McCarthy, Squire J Booker
Lipoyl synthase (LipA) catalyzes the last step in the biosynthesis of the lipoyl cofactor, which is the attachment of two sulfhydryl groups to C6 and C8 of a pendant octanoyl chain. The appended sulfur atoms derive from an auxiliary [4Fe-4S] cluster on the protein that is degraded during turnover, limiting LipA to one turnover in vitro. We found that the Escherichia coli iron-sulfur (Fe-S) cluster carrier protein NfuA efficiently reconstitutes the auxiliary cluster during LipA catalysis in a step that is not rate-limiting...
October 20, 2017: Science
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