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https://www.readbyqxmd.com/read/28719906/a-common-ancestral-asn242ser-mutation-in-tmem67-identified-in-multiple-iranian-families-with-joubert-syndrome
#1
MohammadReza Dehghani, Majid Mojarad, Ehsan Ghayoor Karimiani, Mohammad Yahya Vahidi Mehrjardi, Afsaneh Sahebalzamani, Farah Ashrafzadeh, Mehran Beiraghi Toosi, Atiyeh Eslahi, Najmeh Ahangari, Seyed Mojtaba Yassini, Afsaneh Hassanbeigi, Azam Rasti, Seyed Mehdi Kalantar, Reza Maroofian
BACKGROUND: Joubert syndrome (JS) is a clinically and genetically heterogeneous group of rare neurodevelopmental disorder characterised by peculiar midbrain-hindbrain malformation, known as the "molar tooth" sign. JS can manifest a broad range of signs and symptoms. The most common features of JS are hypotonia, ataxia, developmental delay/intellectual disability, abnormal eye movements, and neonatal breathing abnormalities. To date, 29 genes have been shown to cause JS. METHODS: We employed whole-genome single nucleotide polymorphism genotyping in a group of Iranian families with JS and Sanger sequencing of a known mutation associated with JS located in a single homozygous regions shared by affected members of the families...
July 19, 2017: Public Health Genomics
https://www.readbyqxmd.com/read/28719870/effects-of-endocrine-disrupting-chemicals-on-estrogen-receptor-alpha-and-heat-shock-protein-60-gene-expression-in-primary-cultures-of-loggerhead-sea-turtle-caretta-caretta-erythrocytes
#2
Paolo Cocci, Martina Capriotti, Gilberto Mosconi, Francesco Alessandro Palermo
The loggerhead turtle (Caretta caretta) can be considered a good indicator species for studying the ecological impact of endocrine disrupting chemicals (EDCs) on wildlife. However, the effect of these environmental pollutants on nuclear steroid hormone signaling has not yet been addressed in sea turtles mainly due to the legal constraints of their endangered status. Here we describe the use of primary erythrocyte cell cultures as in vitro models for evaluating the effects of different EDCs on the expression of estrogen receptor α (ERα)...
July 15, 2017: Environmental Research
https://www.readbyqxmd.com/read/28719853/determination-of-chemical-forms-of-14-c-in-liquid-discharges-from-nuclear-power-plants
#3
I Svetlik, M Fejgl, P P Povinec, T Kořínková, L Tomášková, J Pospíchal, M Kurfiřt, R Striegler, M Kaufmanová
Developments of radioanalytical methods for determination of radiocarbon in wastewaters from nuclear power plants (NPP) with pressurized light water reactors, which would distinguish between the dissolved organic and inorganic forms have been carried out. After preliminary tests, the method was used to process pilot samples from wastewater outlets from the Temelín and Dukovany NPPs (Czech Republic). The results of analysis of pilot water samples collected in 2015 indicate that the instantaneous (14)C releases into the water streams would be about 7...
July 15, 2017: Journal of Environmental Radioactivity
https://www.readbyqxmd.com/read/28719814/enantiomeric-separation-of-seven-%C3%AE-agonists-by-nace-study-of-chiral-selectivity-with-diacetone-d-mannitol-boric-acid-complex
#4
Lili Lv, Lijuan Wang, Jun Li, Yajun Jiao, Shengnan Gao, Jiachang Wang, Hongyuan Yan
A rapid and effective nonaqueous capillary electrophoresis (NACE)-ultraviolet (UV) method was developed for the enantiomeric separation of seven β-agonists. Diacetone-d-mannitol-boric acid complex was used as a new chiral selector. It was in situ synthesized by the reaction of diacetone-d-mannitol and boric acid in methanol medium containing triethylamine. The effects of diacetone-d-mannitol, boric acid, and triethylamine concentrations on the enantioseparation were carefully investigated. Under the optimized conditions, baseline enantioseparation could be obtained for six of the tested β-agonists within 12min...
July 8, 2017: Journal of Pharmaceutical and Biomedical Analysis
https://www.readbyqxmd.com/read/28719550/does-an-annular-puncture-influence-the-herniation-path-an-in-vitro-mechanical-and-structural-investigation
#5
Vonne M van Heeswijk, Ashvin Thambyah, Peter A Robertson, Neil D Broom
STUDY DESIGN: A study of mechanically-induced herniation in punctured ovine discs followed by structural analysis. OBJECTIVE: To investigate whether an annular puncture influences the path that herniation takes by providing direct passage for nucleus through the annulus and therefore whether it increases the risk of acute herniation from overload at the site of damage independent of any longer-term degeneration. SUMMARY OF BACKGROUND DATA: 10 years after treatment with discography both degenerative changes and frequency of herniation have been shown to increase compared to untreated discs...
July 17, 2017: Spine
https://www.readbyqxmd.com/read/28719467/pan-trk-immunohistochemistry-is-an-efficient-and-reliable-screen-for-the-detection-of-ntrk-fusions
#6
Jaclyn F Hechtman, Ryma Benayed, David M Hyman, Alexander Drilon, Ahmet Zehir, Denise Frosina, Maria E Arcila, Snjezana Dogan, David S Klimstra, Marc Ladanyi, Achim A Jungbluth
Activating neurotrophic tyrosine receptor kinase (NTRK) fusions, typically detected using nucleic-acid based assays, are highly targetable and define certain tumors. Here, we explore the utility of pan-TRK immunohistochemistry (IHC) to detect NTRK fusions. NTRK rearrangements were detected prospectively using MSK-IMPACT, a DNA-based next-generation sequencing assay. Transcription of novel NTRK rearrangements into potentially functional fusion transcripts was assessed via Archer Dx fusion assay. Pan-Trk IHC testing with mAb EPR17341 was performed on all NTRK rearranged cases and 20 cases negative for NTRK fusions on Archer...
July 17, 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28719465/predictors-of-outcome-in-adenoid-cystic-carcinoma-of-salivary-glands-a-clinicopathologic-study-with-correlation-between-myb-fusion-and-protein-expression
#7
Bin Xu, Esther Drill, Allen Ho, Alan Ho, Lara Dunn, Carlos Nicolas Prieto-Granada, Timothy Chan, Ian Ganly, Ronald Ghossein, Nora Katabi
Adenoid cystic carcinoma (ACC) is the second most common salivary gland malignancy and it has a high rate of recurrences and a poor long-term prognosis. Our aim was to assess the prognostic factors in ACC and study MYB-NFIB fusion and MYB protein expression in a large retrospective cohort of 135 patients with a median follow-up of 6.3 years. The 5- and 10-year local recurrence-free survival (RFS) rate of 94% and 78%, 5- and 10-year distant metastasis survival rate of 77% and 58%, and 5- and 10-year RFS of 66% and 44%...
July 17, 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28717027/regulation-of-the-calvin-benson-bassham-cycle-in-the-enigmatic-diatoms-biochemical-and-evolutionary-variations-on-an-original-theme
#8
REVIEW
Erik Jensen, Romain Clément, Stephen C Maberly, Brigitte Gontero
In Plantae, the Calvin-Benson-Bassham (CBB) cycle is highly regulated and most of its enzymes have been thoroughly studied. Since diatoms arose as a result of secondary endosymbiosis with one or more Plantae ancestors, their precise evolutionary history is enigmatic and complex resulting in biochemical variations on the original CBB cycle theme. The Rubisco Michaelis constant for CO2 is higher in diatoms than land plants and the nuclear-encoded Rubisco activase in Plantae is replaced by an analogous chloroplast-encoded CbbX (Calvin-Benson-Bassham protein X) in diatoms...
September 5, 2017: Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences
https://www.readbyqxmd.com/read/28716828/creation-and-preliminary-characterization-of-pregnane-x-receptor-and-constitutive-androstane-receptor-knockout-rats
#9
Kevin P Forbes, Evguenia Kouranova, Daniel Tinker, Karen Janowski, Doug Cortner, Aaron McCoy, Xiaoxia Cui
The nuclear receptors pregnane X receptor (PXR) and constitutive androstane receptor (CAR) are closely related transcription factors that regulate the expression of Phase I (Cytochrome P450s), Phase II metabolizing enzymes and transporter genes in response to stimulation from xenobiotics, including prescription drugs. PXR and CAR are also involved in other endogenous processes, such as in inflammation, glucose homeostasis and lipid metabolism, and are thus potential drug targets themselves. PXR and CAR knockout and humanized mouse models have proven useful...
July 17, 2017: Drug Metabolism and Disposition: the Biological Fate of Chemicals
https://www.readbyqxmd.com/read/28716633/the-synthetic-cannabinoid-win55212-2-ameliorates-traumatic-spinal-cord-injury-via-inhibition-of-gapdh-siah1-in-a-cb2-receptor-dependent-manner
#10
Bin-Xiao Su, Xin Chen, Jia Huo, Shu-Yun Guo, Rui Ma, Yan-Wu Liu
The essential role of GAPDH/Siah1 signaling pathway in the pathogenesis of various injurious conditions such as traumatic spinal cord injury (SCI) has been gradually recognized. However, the drugs targeting this signaling pathway are still lacking. The endocannabinoid system, including its receptors (CB1 and CB2), act as neuroprotective and immunomodulatory modulators in SCI. WIN55212-2, an agonist for CB1 and CB2 receptors, has been demonstrated with anti-inflammatory and anti-apoptotic effects in multiple neurological diseases...
July 14, 2017: Brain Research
https://www.readbyqxmd.com/read/28716103/cytotoxic-activity-of-extracts-and-crude-saponins-from-zanthoxylum-armatum-dc-against-human-breast-mcf-7-mda-mb-468-and-colorectal-caco-2-cancer-cell-lines
#11
Fiaz Alam, Qazi Najum Us Saqib, Abdul Waheed
BACKGROUND: Zanthoxylum armatum DC has been an important traditional plant known for its medicinal properties. It is well known for its antimicrobial, larvicidal and cytotoxic activities. METHODS: The potential anticancer effects of the methanol extract and the crude saponins from fruit, bark and leaves of Z. armatum on breast (MDA-MB-468 and MCF-7) and colorectal (Caco-2) cancer cell lines using MTT, neutral red uptake(NRU) and DAPI stain assays were evaluated...
July 17, 2017: BMC Complementary and Alternative Medicine
https://www.readbyqxmd.com/read/28715216/long-term-effect-of-a-leonardite-iron-humate-improving-fe-nutrition-as-revealed-in-silico-in-vivo-and-in-field-experiments
#12
Maria Teresa Cieschi, Marcos Caballero-Molada, Nieves Menéndez, Miguel Ángel Naranjo, Juan J Lucena
Novel, cheap and ecofriendly fertilizers that solve the usual iron deficiency problem in calcareous soil are needed. The aim of this work is to study the long term effect of an iron leonardite fertilizer on citrus nutrition taking into account a properly characterization, kinetic response with a ligand competition experiment, efficiency assessment using Saccharomyces cerevisiae strain and finally, in field conditions with citrus as test plants. Its efficiency was compared with the synthetic iron chelate FeEDDHA...
July 17, 2017: Journal of Agricultural and Food Chemistry
https://www.readbyqxmd.com/read/28714514/nuclear-expression-of-y-box-binding-1-is-important-for-resistance-to-chemotherapy-including-gemcitabine-in-tp53-mutated-bladder-cancer
#13
Takahisa Yamashita, Morihiro Higashi, Shuji Momose, Makoto Morozumi, Jun-Ichi Tamaru
The development and acquisition of multiple drug resistance in cancer cells remain a major obstacle in the treatment of bladder cancer. Nuclear translocation of Y box binding-1 (YB-1), which is a member of a family of DNA-binding proteins that contain a cold shock domain, plays a significant role in the acquisition of drug resistance by upregulating expression of the multidrug resistance-1 (MDR-1) gene product, p-glycoprotein. The tumor suppressor protein p53 is thought to be essential for nuclear translocation of YB-1...
August 2017: International Journal of Oncology
https://www.readbyqxmd.com/read/28713733/effectiveness-of-preoperative-lymphoscintigraphy-for-the-detection-of-cervical-lymph-node-metastasis-in-patients-with-oral-squamous-cell-carcinoma
#14
Md Ahsan Habib, Quazi Billur Rahman, Shakhawat Hossain, Ashik Abdullah Imon, Gokul Chand Kundu
BACKGROUND: Oral squamous cell carcinoma (OSCC) is one of the most common malignant tumor. OSCC is the malignancy of squamous epithelium of oral cavity, which is the sixth most common malignancy reported worldwide and one with highest mortality rate among all malignancies. AIMS: The aims of this study is to assess the diagnostic performance of lymphoscintigraphy (LSG) for the detection of cervical lymph node metastasis in patients with OSCC. MATERIALS AND METHODS: This was a prospective study done in Oral and Maxillofacial Surgery Department and National Institute of Nuclear Medicine and Allied Science, Bangabandhu Sheikh Mujib Medical University during July 2015-June 2016...
January 2017: Annals of Maxillofacial Surgery
https://www.readbyqxmd.com/read/28713419/population-structure-genetic-diversity-and-evolutionary-history-of-kleinia-neriifolia-asteraceae-on-the-canary-islands
#15
Ye Sun, Carlos F Vargas-Mendoza
Kleinia neriifolia Haw. is an endemic species on the Canarian archipelago, this species is widespread in the coastal thicket of all the Canarian islands. In the present study, genetic diversity and population structure of K. neriifolia were investigated using chloroplast gene sequences and nuclear SSR (simple sequence repeat). The differentiation among island populations, the historical demography, and the underlying evolutionary scenarios of this species are further tested based on the genetic data. Chloroplast diversity reveals a strong genetic divergence between eastern islands (Gran Canaria, Fuerteventura, and Lanzarote) and western islands (EI Hierro, La Palma, La Gomera, Tenerife), this west-east genetic divergence may reflect a very beginning of speciation...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/28712764/nucleocytoplasmic-transport-in-cells-with-progerin-induced-defective-nuclear-lamina
#16
Gianmarco Ferri, Barbara Storti, Ranieri Bizzarri
Recent data indicate that nuclear lamina (NL) plays a relevant role in many fundamental cellular functions. The peculiar role of NL in cells is dramatically demonstrated by the Hutchinson-Gilford progeria syndrome (HGPS), an inherited laminopathy that causes premature, rapid aging shortly after birth. In HGPS, a mutant form of Lamin A (progeria) leads to a dysmorphic NL structure, but how this perturbation is transduced into cellular changes is still largely unknown. Owing to the close structural relationship between NL and the Nuclear Pore Complex (NPC), in this work we test whether HGPS affects passive and active nucleo-cytoplasmic shuttling of cargoes by means of an established model based of fluorescence recovery after photobleaching...
June 28, 2017: Biophysical Chemistry
https://www.readbyqxmd.com/read/28712038/binding-mode-prediction-and-md-mmpbsa-based-free-energy-ranking-for-agonists-of-rev-erb%C3%AE-ncor
#17
Yvonne Westermaier, Sergio Ruiz-Carmona, Isabelle Theret, Françoise Perron-Sierra, Guillaume Poissonnet, Catherine Dacquet, Jean A Boutin, Pierre Ducrot, Xavier Barril
The knowledge of the free energy of binding of small molecules to a macromolecular target is crucial in drug design as is the ability to predict the functional consequences of binding. We highlight how a molecular dynamics (MD)-based approach can be used to predict the free energy of small molecules, and to provide priorities for the synthesis and the validation via in vitro tests. Here, we study the dynamics and energetics of the nuclear receptor REV-ERBα with its co-repressor NCoR and 35 novel agonists. Our in silico approach combines molecular docking, molecular dynamics (MD), solvent-accessible surface area (SASA) and molecular mechanics poisson boltzmann surface area (MMPBSA) calculations...
July 15, 2017: Journal of Computer-aided Molecular Design
https://www.readbyqxmd.com/read/28710754/the-fast-halo-assay-for-the-detection-of-dna-damage
#18
Piero Sestili, Cinzia Calcabrini, Anna Rita Diaz, Carmela Fimognari, Vilberto Stocchi
The need for express screening of the DNA damaging potential of chemicals has progressively increased over the past 20 years due to the wide number of new synthetic molecules to be evaluated, as well as the adoption of more stringent chemical regulations such as the EU REACH and risk reduction politics. In this regard, DNA diffusion assays such as the microelectrophoretic comet assay paved the way for rapid genotoxicity testing. A more significant simplification and speeding up of the experimental processes was achieved with the fast halo assay (FHA) described in the present chapter...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28710530/proteomic-characterisation-reveals-active-wnt-signalling-by-human-multipotent-stromal-cells-as-a-key-regulator-of-beta-cell-survival-and-proliferation
#19
Miljan Kuljanin, Gillian I Bell, Stephen E Sherman, Gilles A Lajoie, David A Hess
AIMS/HYPOTHESIS: Novel strategies to stimulate the expansion of beta cell mass in situ are warranted for diabetes therapy. The aim of this study was to elucidate the secretome of human bone marrow (BM)-derived multipotent stromal cells (MSCs) with documented islet regenerative paracrine function. We hypothesised that regenerative MSCs will secrete a unique combination of protein factors that augment islet regeneration. METHODS: Human BM-derived MSCs were examined for glucose-lowering capacity after transplantation into streptozotocin-treated NOD/severe combined immunodeficiency (SCID) mice and segregated into samples with regenerative (MSC(R)) vs nonregenerative (MSC(NR)) capacity...
July 14, 2017: Diabetologia
https://www.readbyqxmd.com/read/28710293/probing-gata-factor-function-in-mouse-leydig-cells-via-testicular-injection-of-adenoviral-vectors
#20
Gervette M Penny, Rebecca B Cochran, Marjut Pihlajoki, Antti Kyrönlahti, Anja Schrade, Merja Häkkinen, Jorma Toppari, Markku Heikinheimo, David B Wilson
Testicular Leydig cells produce androgens essential for proper male reproductive development and fertility. Here, we describe a new Leydig cell ablation model based on Cre/Lox recombination of mouse Gata4 and Gata6, two genes implicated in the transcriptional regulation of steroidogenesis. The testicular interstitium of adult Gata4(flox/flox);Gata6(flox/flox) mice was injected with adenoviral vectors encoding Cre + GFP (Ad-Cre-IRES-GFP) or GFP alone (Ad-GFP). The vectors efficiently and selectively transduced Leydig cells, as evidenced by GFP reporter expression...
July 14, 2017: Reproduction: the Official Journal of the Society for the Study of Fertility
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