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I M Ilienko, N A Golyarnik, O V Lyaskivska, O A Belayev, D A Bazyka
OBJECTIVE: To study radiation induced biological markers of the late period after exposure. SUBJECTS AND METHODS: A study was performed in 235 Chornobyl accident male clean-up workers exposed in 1986-1987 (doses of external exposure: (M ± SD: 419.48 ± 654.60; range 0.10-3,500 mSv); age 58,34 ± 6,57 years. Controlgroup included 45 non-exposed subjects (mean age: 50.60 ± 5.37 (M ± SD). Gene expression was performed by RT-PCR on 7900HT Analyzer using TLDA for BCL2, CDKN2A, CLSTN2, GSTM1, IFNG, IL1B, MCF2L, SERPINB9, STAT3, TERF1, TERF2,TERT, TNF, TP53, CCND1 genes...
December 2018: Problemy Radiat︠s︡iĭnoï Medyt︠s︡yny Ta Radiobiolohiï
Gilles Gasparoni, Sebastian Bultmann, Pavlo Lutsik, Theo F J Kraus, Sabrina Sordon, Julia Vlcek, Vanessa Dietinger, Martina Steinmaurer, Melanie Haider, Christopher B Mulholland, Thomas Arzberger, Sigrun Roeber, Matthias Riemenschneider, Hans A Kretzschmar, Armin Giese, Heinrich Leonhardt, Jörn Walter
BACKGROUND: Epigenome-wide association studies (EWAS) based on human brain samples allow a deep and direct understanding of epigenetic dysregulation in Alzheimer's disease (AD). However, strong variation of cell-type proportions across brain tissue samples represents a significant source of data noise. Here, we report the first EWAS based on sorted neuronal and non-neuronal (mostly glia) nuclei from postmortem human brain tissues. RESULTS: We show that cell sorting strongly enhances the robust detection of disease-related DNA methylation changes even in a relatively small cohort...
July 25, 2018: Epigenetics & Chromatin
Jonine D Figueroa, Candace D Middlebrooks, A Rouf Banday, Yuanqing Ye, Montserrat Garcia-Closas, Nilanjan Chatterjee, Stella Koutros, Lambertus A Kiemeney, Thorunn Rafnar, Timothy Bishop, Helena Furberg, Giuseppe Matullo, Klaus Golka, Manuela Gago-Dominguez, Jack A Taylor, Tony Fletcher, Afshan Siddiq, Victoria K Cortessis, Charles Kooperberg, Olivier Cussenot, Simone Benhamou, Jennifer Prescott, Stefano Porru, Colin P Dinney, Núria Malats, Dalsu Baris, Mark P Purdue, Eric J Jacobs, Demetrius Albanes, Zhaoming Wang, Charles C Chung, Sita H Vermeulen, Katja K Aben, Tessel E Galesloot, Gudmar Thorleifsson, Patrick Sulem, Kari Stefansson, Anne E Kiltie, Mark Harland, Mark Teo, Kenneth Offit, Joseph Vijai, Dean Bajorin, Ryan Kopp, Giovanni Fiorito, Simonetta Guarrera, Carlotta Sacerdote, Silvia Selinski, Jan G Hengstler, Holger Gerullis, Daniel Ovsiannikov, Meinolf Blaszkewicz, Jose Esteban Castelao, Manuel Calaza, Maria Elena Martinez, Patricia Cordeiro, Zongli Xu, Vijayalakshmi Panduri, Rajiv Kumar, Eugene Gurzau, Kvetoslava Koppova, H Bas Bueno-De-Mesquita, Börje Ljungberg, Françoise Clavel-Chapelon, Elisabete Weiderpass, Vittorio Krogh, Miren Dorronsoro, Ruth C Travis, Anne Tjønneland, Paul Brennan, Jenny Chang-Claude, Elio Riboli, David Conti, Marianna C Stern, Malcolm C Pike, David Van Den Berg, Jian-Min Yuan, Chancellor Hohensee, Rebecca P Jeppson, Geraldine Cancel-Tassin, Morgan Roupret, Eva Comperat, Constance Turman, Immaculata De Vivo, Edward Giovannucci, David J Hunter, Peter Kraft, Sara Lindstrom, Angela Carta, Sofia Pavanello, Cecilia Arici, Giuseppe Mastrangelo, Ashish M Kamat, Liren Zhang, Yilei Gong, Xia Pu, Amy Hutchinson, Laurie Burdett, William A Wheeler, Margaret R Karagas, Alison Johnson, Alan Schned, G M Monawar Hosain, Molly Schwenn, Manolis Kogevinas, Adonina Tardón, Consol Serra, Alfredo Carrato, Reina García-Closas, Josep Lloreta, Gerald Andriole, Robert Grubb, Amanda Black, W Ryan Diver, Susan M Gapstur, Stephanie Weinstein, Jarmo Virtamo, Christopher A Haiman, Maria Teresa Landi, Neil E Caporaso, Joseph F Fraumeni, Paolo Vineis, Xifeng Wu, Stephen J Chanock, Debra T Silverman, Ludmila Prokunina-Olsson, Nathaniel Rothman
Candidate gene and genome-wide association studies (GWAS) have identified 15 independent genomic regions associated with bladder cancer risk. In search for additional susceptibility variants, we followed up on four promising single-nucleotide polymorphisms (SNPs) that had not achieved genome-wide significance in 6911 cases and 11 814 controls (rs6104690, rs4510656, rs5003154 and rs4907479, P < 1 × 10(-6)), using additional data from existing GWAS datasets and targeted genotyping for studies that did not have GWAS data...
March 15, 2016: Human Molecular Genetics
Federica Riccardi, Gianna F Rivolta, Vera Uliana, Francesca R Grati, Roberta La Starza, Livia Marcato, Caterina Di Perna, Gabriele Quintavalle, Livia Garavelli, Simonetta Rosato, Gabriella Sammarelli, Tauro M Neri, Annarita Tagliaferri, Davide Martorana
Variations of DNA sequences in the human genome range from large, microscopically visible chromosome anomalies to single nucleotide changes. Submicroscopic genomic copy number variations, i.e. chromosomal imbalances which are undetectable by conventional cytogenetic analysis, play an intriguing clinical role. In this study, we describe the clinical consequences of the concurrent presence of an interstitial deletion in 13q34 and a terminal deletion in 4q35.2 in an Italian family. The index patient, a 19-year-old male, as well as his 12-year-old sister are carriers of both deletions, one of maternal and the other of paternal origin...
2015: Cytogenetic and Genome Research
Colin Shepherd, Andrew J Skelton, Michael D Rushton, Louise N Reynard, John Loughlin
BACKGROUND: Osteoarthritis (OA) is a painful, debilitating disease characterised by loss of articular cartilage with concurrent changes in other tissues of the synovial joint. Genetic association studies have shown that a number of common variants increase the risk of developing OA. Investigating their activity can uncover novel causal pathways and potentially highlight new treatment targets. One of the reported OA association signals is marked by the single nucleotide polymorphism (SNP) rs11842874 at chromosome 13q34...
November 19, 2015: BMC Medical Genetics
Stephanie Maiwald, Mahdi M Motazacker, Julian C van Capelleveen, Suthesh Sivapalaratnam, Allard C van der Wal, Chris van der Loos, John J P Kastelein, Willem H Ouwehand, G Kees Hovingh, Mieke D Trip, Jaap D van Buul, Geesje M Dallinga-Thie
Cardiovascular disease (CVD) is a major cause of death in Western societies. CVD risk is largely genetically determined. The molecular pathology is, however, not elucidated in a large number of families suffering from CVD. We applied exclusion linkage analysis and next-generation sequencing to elucidate the molecular defect underlying premature CVD in a small pedigree, comprising two generations of which six members suffered from premature CVD. A total of three variants showed co-segregation with the disease status in the family...
January 2016: European Journal of Human Genetics: EJHG
Ethan R Fitzpatrick, Tinghui Hu, Bryan T Ciccarelli, Ian P Whitehead
DBS/MCF2L has been recently identified as a risk locus for osteoarthritis. It encodes a guanine nucleotide exchange factor (Dbs) that has been shown to regulate both normal and tumor cell motility. In the current study, we have determined that endogenous Dbs is predominantly expressed as 2 isoforms, a 130 kDa form (Dbs-130) that is localized to the Golgi complex, and an 80 kDa form (Dbs-80) that is localized to the endoplasmic reticulum (ER). We have previously described an inhibitor that binds to the RhoGEF domain of Dbs and blocks its transforming activity...
2014: Small GTPases
Chariyawan Charalsawadi, Worathai Maisrikhaw, Verayuth Praphanphoj, Juthamas Wirojanan, Tippawan Hansakunachai, Rawiwan Roongpraiwan, Tasnawat Sombuntham, Nichara Ruangdaraganon, Pornprot Limprasert
Autistic spectrum disorder (ASD) is a group of neurodevelopmental disorders characterized by impairments of social interaction, communication and restricted, repetitive and stereotyped patterns of behavior, interests and activities. Frequencies of chromosomal abnormalities in cohorts of individuals with ASD varying between 1.2 and 28.6% have been reported. In this study, we evaluated 203 Thai children who met the criteria of the Diagnostic and Statistical Manual of Mental Disorders, 4th edition (DSM-IV), for autistic disorder or pervasive developmental disorder not otherwise specified (PDD-NOS), and who had neither major dysmorphic features nor CGG repeat expansions of the FMR1 gene...
2014: Cytogenetic and Genome Research
Cristina Rodriguez-Fontenla, Antonio Gonzalez
Osteoarthritis (OA) is a complex disease caused by the interaction of multiple genetic and environmental factors. This review focuses on the studies that have contributed to the discovery of genetic susceptibility factors in OA. The most relevant associations discovered until now are discussed in detail: GDF-5, 7q22 locus, MCF2L, DOT1L, NCOA3 and also some important findings from the arcOGEN study. Moreover, the different approaches that can be used to minimize the specific problems of the study of OA genetics are discussed...
January 2015: Reumatología Clinica
Ethan R Fitzpatrick, Tinghui Hu, Bryan T Ciccarelli, Ian P Whitehead
DBS/MCF2L has been recently identified as a risk locus for osteoarthritis. It encodes a guanine nucleotide exchange factor (Dbs) that has been shown to regulate both normal and tumor cell motility. In the current study we have determined that endogenous Dbs is predominantly expressed as 2 isoforms, a 130 kDa form (Dbs-130) that is localized to the Golgi complex, and an 80 kDa form (Dbs-80) that is localized to the endoplasmic reticulum (ER). We have previously described an inhibitor that binds to the RhoGEF domain of Dbs and blocks its transforming activity...
May 8, 2014: Small GTPases
Nevzat Kazgan, Mallikarjuna R Metukuri, Aparna Purushotham, Jing Lu, Anuradha Rao, Sangkyu Lee, Matthew Pratt-Hyatt, Andrew Lickteig, Iván L Csanaky, Yingming Zhao, Paul A Dawson, Xiaoling Li
BACKGROUND & AIMS: Sirtuin 1 (SIRT1), the most conserved mammalian oxidized nicotinamide adenine dinucleotide-dependent protein deacetylase, is an important metabolic sensor in many tissues. However, little is known about its role in the small intestine, which absorbs and senses nutrients. We investigated the functions of intestinal SIRT1 in systemic bile acid and cholesterol metabolism in mice. METHODS: SIRT1 was specifically deleted from the intestines of mice using the flox-Villin-Cre system (SIRT1 iKO mice)...
April 2014: Gastroenterology
Takashi Hayashi, Tomoyuki Yoshida, Moonjin Ra, Ryo Taguchi, Masayoshi Mishina
Interleukin-1 receptor accessory protein-like 1 (IL1RAPL1) is associated with X-linked mental retardation and autism spectrum disorder. We found that IL1RAPL1 regulates synapse formation of cortical neurons. To investigate how IL1RAPL1 controls synapse formation, we here screened IL1RAPL1-interacting proteins by affinity chromatography and mass spectroscopy. IL1RAPL1 interacted with Mcf2-like (Mcf2l), a Rho guanine nucleotide exchange factor, through the cytoplasmic Toll/IL-1 receptor domain. Knockdown of endogenous Mcf2l and treatment with an inhibitor of Rho-associated protein kinase (ROCK), the downstream kinase of RhoA, suppressed IL1RAPL1-induced excitatory synapse formation of cortical neurons...
2013: PloS One
Bing Yang, Sachin Bhusari, Jessica Kueck, Pushpa Weeratunga, Jennifer Wagner, Glen Leverson, Wei Huang, David F Jarrard
Prostate cancer (PCa) is typically found as a multifocal disease suggesting the potential for molecular defects within the morphologically normal tissue. The frequency and spatial extent of DNA methylation changes encompassing a potential field defect are unknown. A comparison of non-tumor-associated (NTA) prostate to histologically indistinguishable tumor-associated (TA) prostate tissues detected a distinct profile of DNA methylation alterations (0.2%) using genome-wide DNA arrays based on the Encyclopedia of DNA Elements 18 sequence that tile both gene-rich and poor regions...
April 2013: Neoplasia: An International Journal for Oncology Research
R E Mitchell, L F A Huitema, R E H Skinner, L H Brunt, C Severn, S Schulte-Merker, C L Hammond
OBJECTIVE: Increasing evidence points to a strong genetic component to osteoarthritis (OA) and that certain changes that occur in osteoarthritic cartilage recapitulate the developmental process of endochondral ossification. As zebrafish are a well validated model for genetic studies and developmental biology, our objective was to establish the spatiotemporal expression pattern of a number of OA susceptibility genes in the larval zebrafish providing a platform for functional studies into the role of these genes in OA...
February 2013: Osteoarthritis and Cartilage
Ana M Valdes, Sally Doherty, Kenneth R Muir, Weiya Zhang, Rose A Maciewicz, Margaret Wheeler, Nigel Arden, Cyrus Cooper, M Doherty
OBJECTIVE: Knee osteoarthritis (OA) has a significant genetic component. The authors have assessed the role of three variants reported to influence risk of knee OA with p<5×10-8 in determining patellofemoral and tibiofemoral Kellgren Lawrence (K/L) grade in knee OA cases. METHODS: 3474 knee OA cases with sky-line and weight-bearing antero-posterior x-rays of the knee were selected based on the presentation of K/L grade ≥2 at either the tibiofemoral or patellofemoral compartments for one or both knees...
September 2012: Annals of the Rheumatic Diseases
Louise N Reynard, John Loughlin
Osteoarthritis (OA) is a common age-related disease that affects the tissues of the synovial joint, leading to loss of function and pain. It impacts on both patient morbidity and mortality. It is a complex, polygenic disease that lacks any large-effect susceptibility loci. Instead, OA susceptibility alleles individually contribute only modestly to the overall disease risk, making their identification challenging. Despite this, breakthroughs have occurred with compelling associations so far reported to polymorphisms within the genes GDF5 and MCF2L and to the genomic region 7q22...
March 2012: Maturitas
Kay Chapman, Ana M Valdes
Osteoarthritis (OA) is known to have an important genetic component and human genetic studies can help unravel the molecular mechanisms responsible for joint damage and nociception involved in OA. Genetic studies in humans have identified molecules involved in signaling cascades that are important for the pathology of the joint components such as the bone morphogenetic protein growth differentiation factor 5 (GDF5). Genomewide association scans (GWAS) in Asians have uncovered a likely role for structural extracellular matrix components (DVWA), and for molecules involved in immune response (HLA class II DQB1 and BTNL2) but these genes are not associated in Caucasian patients...
August 2012: Bone
C Steilmann, A Paradowska, M Bartkuhn, M Vieweg, H-C Schuppe, M Bergmann, S Kliesch, W Weidner, K Steger
During spermatogenesis, approximately 85% of histones are replaced by protamines. The remaining histones have been proposed to carry essential marks for the establishment of epigenetic information in the offspring. The aim of the present study was to analyse the expression pattern of histone H3 acetylated at lysine 9 (H3K9ac) during normal and impaired spermatogenesis and the binding pattern of H3K9ac to selected genes within ejaculates. Testicular biopsies, as well as semen samples, were used for immunohistochemistry...
2011: Reproduction, Fertility, and Development
Aaron G Day-Williams, Lorraine Southam, Kalliope Panoutsopoulou, Nigel W Rayner, Tonu Esko, Karol Estrada, Hafdis T Helgadottir, Albert Hofman, Throvaldur Ingvarsson, Helgi Jonsson, Aime Keis, Hanneke J M Kerkhof, Gudmar Thorleifsson, Nigel K Arden, Andrew Carr, Kay Chapman, Panos Deloukas, John Loughlin, Andrew McCaskie, William E R Ollier, Stuart H Ralston, Timothy D Spector, Gillian A Wallis, J Mark Wilkinson, Nadim Aslam, Fraser Birell, Ian Carluke, John Joseph, Ashok Rai, Mike Reed, Kirsten Walker, Sally A Doherty, Ingileif Jonsdottir, Rose A Maciewicz, Kenneth R Muir, Andres Metspalu, Fernando Rivadeneira, Kari Stefansson, Unnur Styrkarsdottir, Andre G Uitterlinden, Joyce B J van Meurs, Weiya Zhang, Ana M Valdes, Michael Doherty, Eleftheria Zeggini
Osteoarthritis (OA) is a prevalent, heritable degenerative joint disease with a substantial public health impact. We used a 1000-Genomes-Project-based imputation in a genome-wide association scan for osteoarthritis (3177 OA cases and 4894 controls) to detect a previously unidentified risk locus. We discovered a small disease-associated set of variants on chromosome 13. Through large-scale replication, we establish a robust association with SNPs in MCF2L (rs11842874, combined odds ratio [95% confidence interval] 1...
September 9, 2011: American Journal of Human Genetics
M Andrew Nesbit, Michael R Bowl, Brian Harding, David Schlessinger, Michael P Whyte, Rajesh V Thakker
X-linked hypoparathyroidism (HPT) has been mapped to a 988-kb region on chromosome Xq27 that contains three genes, MCF2/DBL, SOX3, and U7snRNA homologue, and a partial cDNA, AS6. We isolated the full-length AS6 cDNA, determined its genomic organization, and sought for abnormalities in HPT patients. AS6 was identified as the 3' UTR of ATP11C, a novel member of the P-type ATPases, which consists of 31 exons with alternative transcripts. The colocalization of ATP11C with SOX3 and MCF2/DBL on Xq27 mirrors that of ATP11A with SOX1 and MCF2L on 13q34 and ATP11B with SOX2 on 3q26...
December 2004: Genomics
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