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https://www.readbyqxmd.com/read/28544629/household-pet-exposure-allergic-sensitization-and-rhinitis-in-the-u-s-population
#1
Josef Shargorodsky, Esther Garcia-Esquinas, Rachel Umanskiy, Ana Navas-Acien, Sandra Y Lin
BACKGROUND: The effect of animal dander exposure on allergic sensitization may be age-dependent. A comparison between the association of the levels of exposure to pet allergen with rhinitis symptoms and allergic sensitization in children and adults is yet to be performed in the U.S. POPULATION: HASH(0x4332488) METHODS: Cross-sectional study of 3034 adults (age, 20 to 85 years) and 2104 children (age, 6 to 19 years) in the National Health and Nutrition Examination Survey, 2005-2006...
May 25, 2017: International Forum of Allergy & Rhinology
https://www.readbyqxmd.com/read/28534699/association-of-adipokines-interleukin-6-and-tumor-necrosis-factor-%C3%AE-concentrations-with-clinical-characteristics-and-presence-of-spinal-syndesmophytes-in-patients-with-ankylosing-spondylitis-a-cross-sectional-study
#2
Laura Gonzalez-Lopez, Nicte S Fajardo-Robledo, A Miriam Saldaña-Cruz, Inocente V Moreno-Sandoval, David Bonilla-Lara, Soraya Zavaleta-Muñiz, Arnulfo Hernan Nava-Zavala, Paulina Hernandez-Cuervo, Alberto Rocha-Muñoz, Norma Alejandra Rodriguez-Jimenez, Maria L Vazquez-Villegas, J Francisco Muñoz-Valle, Mario Salazar-Paramo, Ernesto G Cardona-Muñoz, Jorge I Gamez-Nava
Objective To identify correlations of the serum leptin, adiponectin, interleukin-6 (IL-6), and tumor necrosis factor-α (TNF-α) concentrations with the clinical characteristics, presence of spinal syndesmophytes, and body composition in patients with ankylosing spondylitis (AS). Methods Forty-eight patients with AS were compared with 41 sex- and age-matched controls. Assessment included clinical characteristics and the presence of spinal syndesmophytes. The serum leptin, adiponectin, TNF-α, and IL-6 concentrations were determined...
January 1, 2017: Journal of International Medical Research
https://www.readbyqxmd.com/read/28522596/lysyl-oxidase-overexpression-accelerates-cardiac-remodeling-and-aggravates-angiotensin-ii-induced-hypertrophy
#3
María Galán, Saray Varona, Anna Guadall, Mar Orriols, Miquel Navas, Silvia Aguiló, Alicia de Diego, María A Navarro, David García-Dorado, Antonio Rodríguez-Sinovas, José Martínez-González, Cristina Rodriguez
Lysyl oxidase (LOX) controls matrix remodeling, a key process that underlies cardiovascular diseases and heart failure; however, a lack of suitable animal models has limited our knowledge with regard to the contribution of LOX to cardiac dysfunction. Here, we assessed the impact of LOX overexpression on ventricular function and cardiac hypertrophy in a transgenic mouse model with a strong cardiac expression of human LOX (TgLOX). TgLOX mice exhibited high expression of the transgene in cardiomyocytes and cardiofibroblasts, which are associated with enhanced LOX activity and H2O2 production and with cardiofibroblast reprogramming...
May 18, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/28495189/genetic-analysis-of-rhipicephalus-sanguineus-sensu-lato-ticks-parasites-of-dogs-in-africa-north-of-the-sahara-based-on-mitochondrial-dna-sequences
#4
Lidia Chitimia-Dobler, Johanna Langguth, Martin Pfeffer, Simone Kattner, Thomas Küpper, Daniela Friese, Gerhard Dobler, Alberto A Guglielmone, Santiago Nava
The aim of this work was to determine the evolutionary relationship among tick populations of Rhipicephalus sanguineus sensu lato distributed in Africa north of the Sahara and different lineages of R. sanguineus s.l. distributed in different regions of Sub-Saharan Africa, America and Europe through the analysis of DNA sequences of two mitochondrial genes. One hundred and thirty six 16S rRNA gene sequences and twenty-seven 12S rRNA gene sequences of R. sanguineus s.l. were analyzed. Phylogenetic analyses were performed including different lineages of R...
May 30, 2017: Veterinary Parasitology
https://www.readbyqxmd.com/read/28474328/biology-and-thermal-requirements-of-fopius-arisanus-sonan-1932-hymenoptera-braconidae-reared-on-ceratitis-capitata-eggs-wiedemann-diptera-tephritidae
#5
M Z Groth, A E Loeck, S D Nornberg, D Bernardi, D E Nava
Fopius arisanus (Sonan) is a solitary parasitoid of eggs and the first instar larvae of Tephritidae. Due to the occurrence of Ceratitis capitata (Wiedemann) in various regions and under several climatic conditions, this study aimed to evaluate the effect of different temperatures on the embryonic development (egg-adult) and determine thermal requirements and the number of annual generations F. arisanus on eggs of C. capitata. In the laboratory, eggs of C. capitata (24 h) were submitted to parasitism of F. arisanus during 6 h...
May 4, 2017: Neotropical Entomology
https://www.readbyqxmd.com/read/28456691/a-new-thioredoxin-reductase-with-additional-glutathione-reductase-activity-in-haemonchus-contortus
#6
Agustín Plancarte, Gabriela Nava, Javier A Munguía
We report, herein, the purification to homogeneity and the biochemical and kinetic characterization of HcTrxR3, a new isoform of thioredoxin reductase (TrxR) from Haemonchus contortus. HcTrxR3 was found to have a relative molecular weight of 134,000, while the corresponding value per subunit obtained under denaturing conditions, was of 67,000. By peptide mass spectrophotometric analysis, HcTrxR3 was determined to have 99% identity with the H. contortus HcTrxR1 although, and most importantly, they are different in their amino acid sequence in two amino acid positions: 48 (isoleucine instead of leucine) and 460 (leucine instead of proline)...
April 26, 2017: Experimental Parasitology
https://www.readbyqxmd.com/read/28451929/endoscopic-sleeve-gastroplasty-for-obesity-a-multicenter-study-of-248-patients-with-24%C3%A2-months-follow-up
#7
Gontrand Lopez-Nava, Reem Z Sharaiha, Eric J Vargas, Fateh Bazerbachi, Galvao Neto Manoel, Inmaculada Bautista-Castaño, Andres Acosta, Mark D Topazian, Manpreet S Mundi, Nikhil Kumta, Michel Kahaleh, Andrea Marie Herr, Alpana Shukla, Louis Aronne, Christopher J Gostout, Barham K Abu Dayyeh
BACKGROUND: Endoscopic sleeve gastroplasty (ESG) is a technique for managing mild to moderately obese patients. We aimed to evaluate the long-term outcomes, reproducibility, and predictors of weight response in a large multicenter cohort. METHODS: Patients who underwent ESG between January 2013 and December 2015 in three centers were retrospectively analyzed. All procedures were performed using the Apollo OverStitch device (Apollo Endosurgery, Austin, TX). We performed per protocol (PP) and intention-to-treat (ITT) analyses, where patients lost to follow-up were considered failures...
April 27, 2017: Obesity Surgery
https://www.readbyqxmd.com/read/28450425/circulating-free-dna-to-guide-prostate-cancer-treatment-with-parp-inhibition
#8
Jane Goodall, Joaquin Mateo, Wei Yuan, Helen Mossop, Nuria Porta, Susana Miranda, Raquel Perez-Lopez, David Dolling, Dan R Robinson, Shahneen Sandhu, Gemma Fowler, Berni Ebbs, Penny Flohr, George Seed, Daniel Nava Rodrigues, Gunther Boysen, Claudia Bertan, Mark Atkin, Matthew Clarke, Mateus Crespo, Ines Figueiredo, Ruth Riisnaes, Semini Sumanasuriya, Pasquale Rescigno, Zafeiris Zafeiriou, Adam Sharp, Nina Tunariu, Diletta Bianchini, Alexa Gillman, Christopher J Lord, Emma Hall, Arul M Chinnaiyan, Suzanne Carreira, Johann S de Bono
Biomarkers for a more precise patient care are needed in metastatic prostate cancer (mPC). We have reported a Phase II trial (TOPARP-A) of the poly(ADP)-ribose polymerase (PARP) inhibitor olaparib in mPC, demonstrating antitumor activity associating with homologous recombination DNA repair defects. We now report targeted and whole exome sequencing of serial circulating-free DNA (cfDNA) samples collected during this trial. Decreases in cfDNA concentration independently associated with outcome in multivariable analyses (HR for overall survival at week 8: 0...
April 27, 2017: Cancer Discovery
https://www.readbyqxmd.com/read/28420148/differential-effect-of-sucrose-and-fructose-in-combination-with-a-high-fat-diet-on-intestinal-microbiota-and-kidney-oxidative-stress
#9
Adriana Rosas-Villegas, Mónica Sánchez-Tapia, Azalia Avila-Nava, Victoria Ramírez, Armando R Tovar, Nimbe Torres
There is controversial information about the adverse effect of sucrose (S) or fructose (F) in the development of obesity. Thus, the purpose of the study was to evaluate the effect of S or F in a high fat diet (HF) on gut microbiota and renal oxidative stress. Rats were fed for four months with either high-fat + sucrose (HFS) or high-fat + fructose (HFF) or a control diet (C). Half of the HFS or HFF groups were maintained with the same diet and the other half were switched to the consumption of C. HFS and HFF groups increased 51% and 19% body weight, respectively, compared with the C group...
April 16, 2017: Nutrients
https://www.readbyqxmd.com/read/28412879/quantitative-analysis-of-transnasal-anterior-skull-base-approach-report-of-technology-for-intraoperative-assessment-of-instrument-motion
#10
Angelique M Berens, Richard Alex Harbison, Yangming Li, Randall A Bly, Nava Aghdasi, Manuel Ferreira, Blake Hannaford, Kris S Moe
OBJECTIVE: To develop a method to measure intraoperative surgical instrument motion. This model will be applicable to the study of surgical instrument kinematics including surgical training, skill verification, and the development of surgical warning systems that detect aberrant instrument motion that may result in patient injury. DESIGN: We developed an algorithm to automate derivation of surgical instrument kinematics in an endoscopic endonasal skull base surgery model...
April 1, 2017: Surgical Innovation
https://www.readbyqxmd.com/read/28401438/resveratrol-induces-mitochondrial-dysfunction-and-decreases-chronological-life-span-of-saccharomyces-cerevisiae-in-a-glucose-dependent-manner
#11
Minerva Ramos-Gomez, Ivanna Karina Olivares-Marin, Melina Canizal-García, Juan Carlos González-Hernández, Gerardo M Nava, Luis Alberto Madrigal-Perez
A broad range of health benefits have been attributed to resveratrol (RSV) supplementation in mammalian systems, including the increases in longevity. Nonetheless, despite the growing number of studies performed with RSV, the molecular mechanism by which it acts still remains unknown. Recently, it has been proposed that inhibition of the oxidative phosphorylation activity is the principal mechanism of RSV action. This mechanism suggests that RSV might induce mitochondrial dysfunction resulting in oxidative damage to cells with a concomitant decrease of cell viability and cellular life span...
April 11, 2017: Journal of Bioenergetics and Biomembranes
https://www.readbyqxmd.com/read/28379373/genetic-and-phenotypic-heterogeneity-suggest-therapeutic-implications-in-scn2a-related-disorders
#12
Markus Wolff, Katrine M Johannesen, Ulrike B S Hedrich, Silvia Masnada, Guido Rubboli, Elena Gardella, Gaetan Lesca, Dorothée Ville, Mathieu Milh, Laurent Villard, Alexandra Afenjar, Sandra Chantot-Bastaraud, Cyril Mignot, Caroline Lardennois, Caroline Nava, Niklas Schwarz, Marion Gérard, Laurence Perrin, Diane Doummar, Stéphane Auvin, Maria J Miranda, Maja Hempel, Eva Brilstra, Nine Knoers, Nienke Verbeek, Marjan van Kempen, Kees P Braun, Grazia Mancini, Saskia Biskup, Konstanze Hörtnagel, Miriam Döcker, Thomas Bast, Tobias Loddenkemper, Lily Wong-Kisiel, Friedrich M Baumeister, Walid Fazeli, Pasquale Striano, Robertino Dilena, Elena Fontana, Federico Zara, Gerhard Kurlemann, Joerg Klepper, Jess G Thoene, Daniel H Arndt, Nicolas Deconinck, Thomas Schmitt-Mechelke, Oliver Maier, Hiltrud Muhle, Beverly Wical, Claudio Finetti, Reinhard Brückner, Joachim Pietz, Günther Golla, Dinesh Jillella, Karen M Linnet, Perrine Charles, Ute Moog, Eve Õiglane-Shlik, John F Mantovani, Kristen Park, Marie Deprez, Damien Lederer, Sandrine Mary, Emmanuel Scalais, Laila Selim, Rudy Van Coster, Lieven Lagae, Marina Nikanorova, Helle Hjalgrim, G Christoph Korenke, Marina Trivisano, Nicola Specchio, Berten Ceulemans, Thomas Dorn, Katherine L Helbig, Katia Hardies, Hannah Stamberger, Peter de Jonghe, Sarah Weckhuysen, Johannes R Lemke, Ingeborg Krägeloh-Mann, Ingo Helbig, Gerhard Kluger, Holger Lerche, Rikke S Møller
Mutations in SCN2A, a gene encoding the voltage-gated sodium channel Nav1.2, have been associated with a spectrum of epilepsies and neurodevelopmental disorders. Here, we report the phenotypes of 71 patients and review 130 previously reported patients. We found that (i) encephalopathies with infantile/childhood onset epilepsies (≥3 months of age) occur almost as often as those with an early infantile onset (<3 months), and are thus more frequent than previously reported; (ii) distinct phenotypes can be seen within the late onset group, including myoclonic-atonic epilepsy (two patients), Lennox-Gastaut not emerging from West syndrome (two patients), and focal epilepsies with an electrical status epilepticus during slow sleep-like EEG pattern (six patients); and (iii) West syndrome constitutes a common phenotype with a major recurring mutation (p...
March 4, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28378354/ecological-regime-shift-drives-declining-growth-rates-of-sea-turtles-throughout-the-west-atlantic
#13
Karen A Bjorndal, Alan B Bolten, Milani Chaloupka, Vincent S Saba, Cláudio Bellini, Maria A G Marcovaldi, Armando J B Santos, Luis Felipe Wurdig Bortolon, Anne B Meylan, Peter A Meylan, Jennifer Gray, Robert Hardy, Beth Brost, Michael Bresette, Jonathan C Gorham, Stephen Connett, Barbara Van Sciver Crouchley, Mike Dawson, Deborah Hayes, Carlos E Diez, Robert P van Dam, Sue Willis, Mabel Nava, Kristen M Hart, Michael S Cherkiss, Andrew G Crowder, Clayton Pollock, Zandy Hillis-Starr, Fernando A Muñoz Tenería, Roberto Herrera-Pavón, Vanessa Labrada-Martagón, Armando Lorences, Ana Negrete-Philippe, Margaret M Lamont, Allen M Foley, Rhonda Bailey, Raymond R Carthy, Russell Scarpino, Erin McMichael, Jane A Provancha, Annabelle Brooks, Adriana Jardim, Milagros López-Mendilaharsu, Daniel González-Paredes, Andrés Estrades, Alejandro Fallabrino, Gustavo Martínez-Souza, Gabriela M Vélez-Rubio, Ralf H Boulon, Jaime A Collazo, Robert Wershoven, Vicente Guzmán Hernández, Thomas B Stringell, Amdeep Sanghera, Peter B Richardson, Annette C Broderick, Quinton Phillips, Marta Calosso, John A B Claydon, Tasha L Metz, Amanda L Gordon, Andre M Landry, Donna J Shaver, Janice Blumenthal, Lucy Collyer, Brendan J Godley, Andrew McGowan, Matthew J Witt, Cathi L Campbell, Cynthia J Lagueux, Thomas L Bethel, Lory Kenyon
Somatic growth is an integrated, individual-based response to environmental conditions, especially in ectotherms. Growth dynamics of large, mobile animals are particularly useful as bio-indicators of environmental change at regional scales. We assembled growth rate data from throughout the West Atlantic for green turtles, Chelonia mydas, which are long-lived, highly migratory, primarily herbivorous mega-consumers that may migrate over hundreds to thousands of kilometers. Our dataset, the largest ever compiled for sea turtles, has 9690 growth increments from 30 sites from Bermuda to Uruguay from 1973 to 2015...
April 4, 2017: Global Change Biology
https://www.readbyqxmd.com/read/28373209/fludarabine-resistance-mediated-by-aminoglycoside-3-phosphotransferase-iia-and-the-structurally-related-eukaryotic-camp-dependent-protein-kinase
#14
Dámaso Sánchez-Carrera, Sara Bravo-Navas, Elena Cabezón, Ignacio Arechaga, Matilde Cabezas, Lucrecia Yáñez, Carlos Pipaón
While working with G418-resistant stably transfected cells, we realized the neomycin resistance gene (NeoR), which encodes the aminoglycoside-3'-phosphotransferase-IIa [APH(3')-IIa], also confers resistance to the nucleoside analog fludarabine. Fludarabine is a cytostatic drug widely used in the treatment of hematologic and solid tumors as well as in the conditioning of patients before transplantation of hematopoietic progenitors. We present evidence that NeoR-transfected cells do not incorporate fludarabine, thus avoiding DNA damage caused by the drug, evidenced by a lack of FANCD2 monoubiquitination and impaired apoptosis...
April 3, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/28344316/gain-in-the-short-arm-of-chromosome-2-2p-induces-gene-overexpression-and-drug-resistance-in-chronic-lymphocytic-leukemia-analysis-of-the-central-role-of-xpo1
#15
A Cosson, E Chapiro, N Bougacha, J Lambert, L Herbi, H-A Cung, C Algrin, B Keren, F Damm, C Gabillaud, M-N Brunelle-Navas, F Davi, H Merle-Béral, M Le Garff-Tavernier, D Roos-Weil, S Choquet, M Uzunov, V Morel, V Leblond, K Maloum, S Leprêtre, P Feugier, C Lesty, J Lejeune, L Sutton, Y Landesman, S A Susin, F Nguyen-Khac
Leukemia accepted article preview online, 27 March 2017. doi:10.1038/leu.2017.100.
March 27, 2017: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/28314233/suburban-air-quality-human-health-hazard-assessment-of-potentially-toxic-elements-in-pm10
#16
Laura Megido, Beatriz Suárez-Peña, Luis Negral, Leonor Castrillón, Yolanda Fernández-Nava
PM10 samples were collected at two suburban locations in northern Spain, a traffic-industrial suburban (TIS) station located in the coastal city of Gijón and an industrial suburban (IS) station in Langreo, about 25 km inland. The aerosol samples were chemically analysed to determine ambient air concentrations of As, Cd, Co, Cr, Cu, Fe, Mn, Ni, Pb, Se, V and Zn. The results showed that the mean levels of As, Co, Cu, Fe, Mn, Ni, Pb and Se recorded at the IS location were higher than those at the TIS station...
March 6, 2017: Chemosphere
https://www.readbyqxmd.com/read/28302679/disrupting-androgen-receptor-signaling-induces-snail-mediated-epithelial-mesenchymal-plasticity-in-prostate-cancer
#17
Lu Miao, Lin Yang, Rui Li, Daniel Nava Rodrigues, Mateus Crespo, Jer-Tsong Hsieh, Wayne D Tilley, Johann S de Bono, Luke A Selth, Ganesh V Raj
Epithelial to mesenchymal plasticity (EMP) has been linked to metastasis, stemness, and drug resistance. In prostate cancer (PCa), EMP has been associated with both suppression and activation of androgen receptor (AR) signaling. Here we investigated the effect of the potent AR antagonist enzalutamide on EMP in multiple preclinical models of PCa and patient tissues. Enzalutamide treatment significantly enhanced the expression of EMP drivers (ZEB1, ZEB2, Snail, Twist, and FOXC2) and mesenchymal markers (N-cadherin, fibronectin, and vimentin) in PCa cells, enhanced PCa cell migration, and induced PCa transformation to a spindle, fibroblast-like morphology...
March 16, 2017: Cancer Research
https://www.readbyqxmd.com/read/28297420/thin-film-cdte-detector-for-microdosimetric-study-of-radiation-dose-enhancement-at-gold-tissue-interface
#18
Nava Raj Paudel, Diana Shvydka, E Ishmael Parsai
Presence of interfaces between high and low atomic number (Z) materials, often encountered in diagnostic imaging and radiation therapy, leads to radiation dose perturbation. It is characterized by a very narrow region of sharp dose enhancement at the interface. A rapid falloff of the dose enhancement over a very short distance from the interface makes the experimental dosimetry nontrivial. We use an in-house-built inexpensive thin-film Cadmium Telluride (CdTe) photodetector to study this effect at the gold-tissue interface and verify our experimental results with Monte Carlo (MC) modeling...
September 2016: Journal of Applied Clinical Medical Physics
https://www.readbyqxmd.com/read/28289868/associations-of-vitamin-d-status-with-dietary-intakes-and-physical-activity-levels-among-adults-from-seven-european-countries-the-food4me-study
#19
Yannis Manios, George Moschonis, Christina P Lambrinou, Christina Mavrogianni, Lydia Tsirigoti, Ulrich Hoeller, Franz F Roos, Igor Bendik, Manfred Eggersdorfer, Carlos Celis-Morales, Katherine M Livingstone, Cyril F M Marsaux, Anna L Macready, Rosalind Fallaize, Clare B O'Donovan, Clara Woolhead, Hannah Forster, Marianne C Walsh, Santiago Navas-Carretero, Rodrigo San-Cristobal, Silvia Kolossa, Jacqueline Hallmann, Mirosław Jarosz, Agnieszka Surwiłło, Iwona Traczyk, Christian A Drevon, Ben van Ommen, Keith Grimaldi, John N S Matthews, Hannelore Daniel, J Alfredo Martinez, Julie A Lovegrove, Eileen R Gibney, Lorraine Brennan, Wim H M Saris, Mike Gibney, John C Mathers
PURPOSE: To report the vitamin D status in adults from seven European countries and to identify behavioural correlates. METHODS: In total, 1075 eligible adult men and women from Ireland, Netherlands, Spain, Greece, UK, Poland and Germany, were included in the study. RESULTS: Vitamin D deficiency and insufficiency, defined as 25-hydroxy vitamin D3 (25-OHD3) concentration of <30 and 30-49.9 nmol/L, respectively, were observed in 3.3 and 30...
March 13, 2017: European Journal of Nutrition
https://www.readbyqxmd.com/read/28283832/genetic-and-phenotypic-dissection-of-1q43q44-microdeletion-syndrome-and-neurodevelopmental-phenotypes-associated-with-mutations-in-zbtb18-and-hnrnpu
#20
Christel Depienne, Caroline Nava, Boris Keren, Solveig Heide, Agnès Rastetter, Sandrine Passemard, Sandra Chantot-Bastaraud, Marie-Laure Moutard, Pankaj B Agrawal, Grace VanNoy, Joan M Stoler, David J Amor, Thierry Billette de Villemeur, Diane Doummar, Caroline Alby, Valérie Cormier-Daire, Catherine Garel, Pauline Marzin, Sophie Scheidecker, Anne de Saint-Martin, Edouard Hirsch, Christian Korff, Armand Bottani, Laurence Faivre, Alain Verloes, Christine Orzechowski, Lydie Burglen, Bruno Leheup, Joelle Roume, Joris Andrieux, Frenny Sheth, Chaitanya Datar, Michael J Parker, Laurent Pasquier, Sylvie Odent, Sophie Naudion, Marie-Ange Delrue, Cédric Le Caignec, Marie Vincent, Bertrand Isidor, Florence Renaldo, Fiona Stewart, Annick Toutain, Udo Koehler, Birgit Häckl, Celina von Stülpnagel, Gerhard Kluger, Rikke S Møller, Deb Pal, Tord Jonson, Maria Soller, Nienke E Verbeek, Mieke M van Haelst, Carolien de Kovel, Bobby Koeleman, Glen Monroe, Gijs van Haaften, Tania Attié-Bitach, Lucile Boutaud, Delphine Héron, Cyril Mignot
Subtelomeric 1q43q44 microdeletions cause a syndrome associating intellectual disability, microcephaly, seizures and anomalies of the corpus callosum. Despite several previous studies assessing genotype-phenotype correlations, the contribution of genes located in this region to the specific features of this syndrome remains uncertain. Among those, three genes, AKT3, HNRNPU and ZBTB18 are highly expressed in the brain and point mutations in these genes have been recently identified in children with neurodevelopmental phenotypes...
April 2017: Human Genetics
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