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Bin Wang, Yuxi Zhou, Song Leng, Liyuan Zheng, Hong Lv, Fei Wang, Li-Hai Tan, Yimin Sun
Developmental dyslexia (DD) is a neurodevelopment disorder characterized by reading disabilities without apparent etiologies. Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a structural craniofacial malformation featured by isolated orofacial abnormalities. Despite substantial phenotypic differences, potential linkage between these two disorders has been suggested as prevalence of DD among NSCL/P patients was much higher than that in general populations. Previous neuroimaging studies observed impaired short-term memory in patients with DD and NSCL/P, respectively...
October 13, 2016: Journal of Human Genetics
Marie-Jeanne Bertrand, Marie-Pierre Dubé, Jean-Claude Tardif
PURPOSE OF REVIEW: Randomized clinical outcome trials are costly, long, and often yield neutral or modestly positive results, and these issues have impeded cardiovascular drug development in the past decade. Despite the significant reduction of cardiovascular morbidity and mortality with statins, substantial residual risk of major cardiovascular events remains. This could be because of the difficulty of demonstrating benefits of new drugs in addition to the current standard of care in unselected populations as well as the interindividual variability in drug response...
September 26, 2016: Current Opinion in Lipidology
Davide Calebiro, Elisa S Grassi, Markus Eszlinger, Cristina L Ronchi, Amod Godbole, Kerstin Bathon, Fabiana Guizzardi, Tiziana de Filippis, Knut Krohn, Holger Jaeschke, Thomas Schwarzmayr, Rifat Bircan, Hulya Iliksu Gozu, Seda Sancak, Marek Niedziela, Tim M Strom, Martin Fassnacht, Luca Persani, Ralf Paschke
Autonomous thyroid adenomas (ATAs) are a frequent cause of hyperthyroidism. Mutations in the genes encoding the TSH receptor (TSHR) or the Gs protein α subunit (GNAS) are found in approximately 70% of ATAs. The involvement of other genes and the pathogenesis of the remaining cases are presently unknown. Here, we performed whole-exome sequencing in 19 ATAs that were paired with normal DNA samples and identified a recurrent hot-spot mutation (c.1712A>G; p.Gln571Arg) in the enhancer of zeste homolog 1 (EZH1) gene, which codes for a catalytic subunit of the polycomb complex...
September 1, 2016: Journal of Clinical Investigation
A B Crujeiras, A Diaz-Lagares, J M Moreno-Navarrete, J Sandoval, D Hervas, A Gomez, W Ricart, F F Casanueva, M Esteller, J M Fernandez-Real
Elucidating the potential mechanisms involved in the detrimental effect of excess body weight on insulin action is an important priority in counteracting obesity-associated diseases. The present study aimed to disentangle the epigenetic basis of insulin resistance by performing a genome-wide epigenetic analysis in visceral adipose tissue (VAT) from morbidly obese patients depending on the insulin sensitivity evaluated by the clamp technique. The global human methylome screening performed in VAT from 7 insulin-resistant (IR) and 5 insulin-sensitive (IS) morbidly obese patients (discovery cohort) analyzed using the Infinium HumanMethylation450 BeadChip array identified 982 CpG sites able to perfectly separate the IR and IS samples...
July 15, 2016: Translational Research: the Journal of Laboratory and Clinical Medicine
Jean-Claude Tardif, David Rhainds, Mathieu Brodeur, Yassamin Feroz Zada, René Fouodjio, Sylvie Provost, Marie Boulé, Sonia Alem, Jean C Grégoire, Philippe L L'Allier, Reda Ibrahim, Marie-Claude Guertin, Ian Mongrain, Anders G Olsson, Gregory G Schwartz, Eric Rhéaume, Marie-Pierre Dubé
BACKGROUND: Dalcetrapib effects on cardiovascular outcomes are determined by adenylate cyclase 9 gene polymorphisms. Our aim was to determine whether these clinical end point results are also associated with changes in reverse cholesterol transport and inflammation. METHODS AND RESULTS: Participants of the dal-OUTCOMES and dal-PLAQUE-2 trials were randomly assigned to receive dalcetrapib or placebo in addition to standard care. High-sensitivity C-reactive protein was measured at baseline and at end of study in 5243 patients from dal-OUTCOMES also genotyped for the rs1967309 polymorphism in adenylate cyclase 9...
August 2016: Circulation. Cardiovascular Genetics
Young Ho Lee, Gwan Gyu Song
PURPOSE: The purpose of this study was to identify candidate single-nucleotide polymorphisms (SNPs) that might play a role in susceptibility to pancreatic cancer, elucidate their potential mechanisms, and generate SNP-to-gene-to-pathway hypotheses. METHODS: A genome-wide association study (GWAS) dataset of pancreatic cancer that included 496,959 SNPs from 3,851 pancreatic cancer patients and 3,934 control subjects of European descent was used in this study. The Identify candidate Causal SNPs and Pathways (ICSNPathway) method was applied to the GWAS dataset...
November 2015: Journal of B.U.ON.: Official Journal of the Balkan Union of Oncology
Yun-Ai Su, Ji-Tao Li, Wen-Ji Dai, Xue-Mei Liao, Li-Cai Dong, Tian-Lan Lu, Chad Bousman, Tian-Mei Si
The serotonin system plays an important role in the pathogenesis of major depressive disorder (MDD) and genetic variations in serotonin-related genes affect the efficacy of antidepressants. The aim of this study was to investigate the relationship between genotypic variation in six candidate serotonergic genes (ADCY9, HTR1B, GNB3, HTR2A, TPH2, SLC6A4) and depressive and anxiety symptom severity trajectories as well as remission following escitalopram treatment. A total of 166 Chinese patients with MDD were treated with escitalopram (open-label) for 8 weeks...
May 2016: International Clinical Psychopharmacology
Alexander Schwickert, Esther Weghake, Kathrin Brüggemann, Annika Engbers, Benjamin F Brinkmann, Björn Kemper, Jochen Seggewiß, Christian Stock, Klaus Ebnet, Ludwig Kiesel, Christoph Riethmüller, Martin Götte
MicroRNAs (miRNAs, micro ribonucleic acids) are pivotal post-transcriptional regulators of gene expression. These endogenous small non-coding RNAs play significant roles in tumorigenesis and tumor progression. miR-142-3p expression is dysregulated in several breast cancer subtypes. We aimed at investigating the role of miR-142-3p in breast cancer cell invasiveness. Supported by transcriptomic Affymetrix array analysis and confirmatory investigations at the mRNA and protein level, we demonstrate that overexpression of miR-142-3p in MDA-MB-231, MDA-MB-468 and MCF-7 breast cancer cells leads to downregulation of WASL (Wiskott-Aldrich syndrome-like, protein: N-WASP), Integrin-αV, RAC1, and CFL2, molecules implicated in cytoskeletal regulation and cell motility...
2015: PloS One
Eric J Niesor, Renée Benghozi, Philippe Amouyel, Keith C Ferdinand, Gregory G Schwartz
Adenylyl cyclase 9 (ADCY9) mediates β2-adrenoceptor (β2-AR) signalling. Both proteins are associated with caveolae, specialized cholesterol-rich membrane substructures. Apolipoprotein A1 (ApoA1), the major protein component of high-density lipoprotein (HDL), removes cholesterol from cell membrane and caveolae and may thereby influence β2-AR signalling, shown in vitro to be modulated by cholesterol. Patients with Sickle Cell Disease (SCD) typically have low HDL and ApoA1 levels. In patients, mainly of African origin, with SCD, β2-AR activation may trigger adhesion of red blood cells to endothelial cells, leading to vascular occlusive events...
December 1, 2015: Cardiovascular Drugs and Therapy
Matthew L Stone, Ashish K Sharma, Valeria R Mas, Ricardo C Gehrau, Daniel P Mulloy, Yunge Zhao, Christine L Lau, Irving L Kron, Mary E Huerter, Victor E Laubach
BACKGROUND: Ex vivo lung perfusion (EVLP) enables assessment and rehabilitation of marginal donor lungs before transplantation. We previously demonstrated that adenosine A2A receptor (A2AR) agonism attenuates lung ischemia-reperfusion injury. The current study utilizes a novel murine EVLP model to test the hypothesis that A2AR agonist enhances EVLP-mediated rehabilitation of donation after circulatory death (DCD) lungs. METHODS: Mice underwent euthanasia and 60 minutes warm ischemia, and lungs were flushed with Perfadex and underwent cold static preservation (CSP, 60 minutes)...
December 2015: Transplantation
Eric J Niesor, Renée Benghozi
The main atheroprotective mechanism of high-density lipoprotein (HDL) has been regarded as reverse cholesterol transport, whereby cholesterol from peripheral tissues is removed and transported to the liver for elimination. Although numerous additional atheroprotective mechanisms have been suggested, the role of HDL in modulating signal transduction of cell membrane-bound receptors has received little attention to date. This potential was recently highlighted following the identification of a polymorphism in the adenylyl cyclase 9 gene (ADCY9) that was shown to be a determining factor in the risk of cardiovascular (CV) events in patients treated with the HDL-raising compound dalcetrapib...
July 2015: Archives of Medical Research
Elia Creta, Chiara Fabbri, Alessandro Serretti
OBJECTIVE: Second-generation antipsychotics (SGAP) and mood stabilizers (MS) are prescribed widely for the treatment of bipolar disorder, but they are associated with the risk of relevant side-effects, among which is weight gain. The identification of genes that predispose to weight gain would represent a useful tool to evaluate the risk-benefit ratio of treatment. MATERIALS AND METHODS: This study investigated the genetic factors associated with weight gain in bipolar patients treated with SGAP, MS and their combinations (n=486)...
July 2015: Pharmacogenetics and Genomics
Yimin Sun, Yongqing Huang, Aihua Yin, Yongchu Pan, Yirui Wang, Cheng Wang, Yong Du, Meilin Wang, Feifei Lan, Zhibin Hu, Guoqing Wang, Min Jiang, Junqing Ma, Xiaozhuang Zhang, Hongxia Ma, Jian Ma, Weibing Zhang, Qun Huang, Zhongwei Zhou, Lan Ma, Yadi Li, Hongbing Jiang, Lan Xie, Yuyang Jiang, Bing Shi, Jing Cheng, Hongbing Shen, Lin Wang, Yinxue Yang
Nonsyndromic cleft lip with or without a cleft palate (NSCL/P) is among the most common human congenital birth defects and imposes a substantial physical and financial burden on affected individuals. Here, we conduct a case-control-based GWAS followed by two rounds of replication; we include six independent cohorts from China to elucidate the genetic architecture of NSCL/P in Chinese populations. Using this combined analysis, we identify a new locus at 16p13.3 associated with NSCL/P: rs8049367 between CREBBP and ADCY9 (odds ratio=0...
2015: Nature Communications
Jean-Claude Tardif, Eric Rhéaume, Louis-Philippe Lemieux Perreault, Jean C Grégoire, Yassamin Feroz Zada, Géraldine Asselin, Sylvie Provost, Amina Barhdadi, David Rhainds, Philippe L L'Allier, Reda Ibrahim, Ruchi Upmanyu, Eric J Niesor, Renée Benghozi, Gabriela Suchankova, Fouzia Laghrissi-Thode, Marie-Claude Guertin, Anders G Olsson, Ian Mongrain, Gregory G Schwartz, Marie-Pierre Dubé
BACKGROUND: Dalcetrapib did not improve clinical outcomes, despite increasing high-density lipoprotein cholesterol by 30%. These results differ from other evidence supporting high-density lipoprotein as a therapeutic target. Responses to dalcetrapib may vary according to patients' genetic profile. METHODS AND RESULTS: We conducted a pharmacogenomic evaluation using a genome-wide approach in the dal-OUTCOMES study (discovery cohort, n=5749) and a targeted genotyping panel in the dal-PLAQUE-2 imaging trial (support cohort, n=386)...
April 2015: Circulation. Cardiovascular Genetics
Julia Tzu-Ya Weng, Lawrence Shih-Hsin Wu, Chau-Shoun Lee, Paul Wei-Che Hsu, Andrew T A Cheng
Alcoholism has always been a major public health concern in Taiwan, especially in the aboriginal communities. Emerging evidence supports the association between DNA methylation and alcoholism, though very few studies have examined the effect of chronic alcohol consumption on the epignome. Since 1986, we have been following up on the mental health conditions of four major aboriginal peoples of Taiwan. The 993 aboriginal people who underwent the phase 1 (1986) clinical interviews were followed up through phase 2 (1990-1992), and phase 3 (2003-2009)...
September 2015: Computers in Biology and Medicine
A C S Castilho, M F G Nogueira, P K Fontes, M F Machado, R A Satrapa, E M Razza, C M Barros
The LH plays a key role in controlling physiological processes in the ovary acting via LH receptor (LHR). In general, the effects of LHR on the regulation of granulosa cell differentiation are mediated mainly via the Gs-protein/adenylyl cyclase/cAMP system; however, the LHR activation could also induce phospholipase C (PLC)/inositol trisphosphate (IP3) via Gq/11 system. Additionally, the expression of G-proteins (GNAS, GNAQ, and GNA11) and PLC β has been showed in bovine antral follicle, concomitant with an increase in LHR expression...
December 2014: Theriogenology
Tobias O Apinjoh, Judith K Anchang-Kimbi, Clarisse Njua-Yafi, André N Ngwai, Regina N Mugri, Taane G Clark, Kirk A Rockett, Dominic P Kwiatkowski, Eric A Achidi
BACKGROUND: Plasmodium falciparum malaria is one of the most widespread and deadliest infectious diseases in children under five years in endemic areas. The disease has been a strong force for evolutionary selection in the human genome, and uncovering the critical host genetic factors that confer resistance to the disease would provide clues to the molecular basis of protective immunity and improve vaccine development initiatives. METHODS: The effect of single nucleotide polymorphisms (SNPs) and plasma transforming growth factor beta (TGF-β) and interleukin 10 (IL-10) levels on malaria pathology was investigated in a case-control study of 1862 individuals from two major ethnic groups in three regions with intense perennial P...
2014: Malaria Journal
Kátia R Lancellotti Schwarz, Pedro R Lisboa Pires, Ligia Garcia Mesquita, Marcos R Chiaratti, Cláudia Lima Verde Leal
Nitric oxide (NO) is a chemical messenger involved in the control of oocyte maturation. It stimulates guanylate cyclase to produce cyclic guanosine monophosphate (cGMP), which in turn activates cGMP-dependent protein kinase (PKG) and some phosphodiesterases that may interfere with cAMP levels, a nucleotide also involved in meiosis resumption. The aim of this study was to determine the role played by NO on the cGMP/cAMP pathway during meiosis resumption in bovine oocytes. The effects of increasing NO generated by S-nitroso-N-acetylpenicillamine (SNAP; 10(-7)-10(-3) mol/L) and of other drugs that may affect the NO/cGMP pathway (proptoporfirin IX and 8-Br-cGMP) on meiosis resumption were investigated in bovine cumulus-oocyte complexes (COCs) matured for 9 hours in a semidefined medium (TCM199 + 3 mg/mL BSA)...
March 1, 2014: Theriogenology
Li Tai Fang, Sharon Lee, Helen Choi, Hong Kwan Kim, Gregory Jew, Hio Chung Kang, Lin Chen, David Jablons, Il-Jin Kim
We performed whole exome sequencing and gene expression analysis on a metastatic colon cancer to the lung, along with the adjacent normal tissue of the lung. Whole exome sequencing uncovered 71 high-confidence non‑synonymous mutations. We selected 16 mutation candidates, and 13 out of 16 mutations were validated by targeted deep sequencing using the Ion Torrent PGM customized AmpliSeq panel. By integrating mutation, copy number and gene expression microarray data, we identified a JAZF1 mutation with a gain-of-copy, suggesting its oncogenic potential for the lung metastasis from colon cancer...
January 2014: International Journal of Oncology
Bakary Maiga, Amagana Dolo, Ousmane Touré, Victor Dara, Amadou Tapily, Susana Campino, Nuno Sepulveda, Paul Risley, Nilupa Silva, Nipula Silva, Patrick Corran, Kirk A Rockett, Dominic Kwiatkowski, Taane G Clark, Marita Troye-Blomberg, Ogobara K Doumbo
Malaria still remains a major public health problem in Mali, although disease susceptibility varies between ethnic groups, particularly between the Fulani and Dogon. These two sympatric groups share similar socio-cultural factors and malaria transmission rates, but Fulani individuals tend to show significantly higher spleen enlargement scores, lower parasite prevalence, and seem less affected by the disease than their Dogon neighbours. We have used genetic polymorphisms from malaria-associated genes to investigate associations with various malaria metrics between the Fulanai and Dogon groups...
2013: PloS One
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