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A 1.37-Mb 12P11.22-P11.21 Deletion Coincident with a 367-Kb 22Q11.2
CORE Metadata, citation and similar papers at core.ac.uk Provided by Elsevier - Publisher Connector Taiwanese Journal of Obstetrics & Gynecology 53 (2014) 74e78 Contents lists available at ScienceDirect Taiwanese Journal of Obstetrics & Gynecology journal homepage: www.tjog-online.com Short Communication A 1.37-Mb 12p11.22ep11.21 deletion coincident with a 367-kb 22q11.2 duplication detected by array comparative genomic hybridization in an adolescent girl with autism and difficulty in self-care of menstruation Chih-Ping Chen a,b,c,d,e,f,*, Shuan-Pei Lin b,g,h,i, Schu-Rern Chern b, Peih-Shan Wu j, Jun-Wei Su a,k, Chen-Chi Lee a, Wayseen Wang b,l a Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan b Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan c Department of Biotechnology, Asia University, Taichung, Taiwan d School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan e Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan f Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan g Department of Medicine, Mackay Medical College, New Taipei City, Taiwan h Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan i Mackay Junior College of Medicine, Nursing, and Management, Taipei, Taiwan j Gene Biodesign Co. Ltd, Taipei, Taiwan k Department of Obstetrics and Gynecology, China Medical University Hospital, Taichung, Taiwan l Department of Bioengineering, Tatung University, Taipei, Taiwan article info abstract Article history: Objective: To present an array comparative genomic hybridization (aCGH) characterization of a 12p11.22 Accepted 21 October 2013 ep11.21 microdeletion and 22q11.2 microduplication in an adolescent girl with autism, mental retar- dation, facial dysmorphism, microcephaly, behavior problems, and an apparently balanced reciprocal Keywords: translocation of t(8;12)(q24.3;p11.2). -
Loss of Fam60a, a Sin3a Subunit, Results in Embryonic Lethality and Is Associated with Aberrant Methylation at a Subset of Gene
RESEARCH ARTICLE Loss of Fam60a, a Sin3a subunit, results in embryonic lethality and is associated with aberrant methylation at a subset of gene promoters Ryo Nabeshima1,2, Osamu Nishimura3,4, Takako Maeda1, Natsumi Shimizu2, Takahiro Ide2, Kenta Yashiro1†, Yasuo Sakai1, Chikara Meno1, Mitsutaka Kadota3,4, Hidetaka Shiratori1†, Shigehiro Kuraku3,4*, Hiroshi Hamada1,2* 1Developmental Genetics Group, Graduate School of Frontier Biosciences, Osaka University, Suita, Japan; 2Laboratory for Organismal Patterning, RIKEN Center for Developmental Biology, Kobe, Japan; 3Phyloinformatics Unit, RIKEN Center for Life Science Technologies, Kobe, Japan; 4Laboratory for Phyloinformatics, RIKEN Center for Biosystems Dynamics Research, Kobe, Japan Abstract We have examined the role of Fam60a, a gene highly expressed in embryonic stem cells, in mouse development. Fam60a interacts with components of the Sin3a-Hdac transcriptional corepressor complex, and most Fam60a–/– embryos manifest hypoplasia of visceral organs and die in utero. Fam60a is recruited to the promoter regions of a subset of genes, with the expression of these genes being either up- or down-regulated in Fam60a–/– embryos. The DNA methylation level of the Fam60a target gene Adhfe1 is maintained at embryonic day (E) 7.5 but markedly reduced at –/– *For correspondence: E9.5 in Fam60a embryos, suggesting that DNA demethylation is enhanced in the mutant. [email protected] (SK); Examination of genome-wide DNA methylation identified several differentially methylated regions, [email protected] (HH) which were preferentially hypomethylated, in Fam60a–/– embryos. Our data suggest that Fam60a is †These authors contributed required for proper embryogenesis, at least in part as a result of its regulation of DNA methylation equally to this work at specific gene promoters. -
9, 2015 Glasgow, Scotland, United Kingdom Abstracts
Volume 23 Supplement 1 June 2015 www.nature.com/ejhg European Human Genetics Conference 2015 June 6 - 9, 2015 Glasgow, Scotland, United Kingdom Abstracts EJHG_OFC.indd 1 4/1/2006 10:58:05 AM ABSTRACTS European Human Genetics Conference joint with the British Society of Genetics Medicine June 6 - 9, 2015 Glasgow, Scotland, United Kingdom Abstracts ESHG 2015 | GLASGOW, SCOTLAND, UK | WWW.ESHG.ORG 1 ABSTRACTS Committees – Board - Organisation European Society of Human Genetics ESHG Office Executive Board 2014-2015 Scientific Programme Committee European Society President Chair of Human Genetics Helena Kääriäinen, FI Brunhilde Wirth, DE Andrea Robinson Vice-President Members Karin Knob Han Brunner, NL Tara Clancy, UK c/o Vienna Medical Academy Martina Cornel, NL Alser Strasse 4 President-Elect Yanick Crow, FR 1090 Vienna Feliciano Ramos, ES Paul de Bakker, NL Austria Secretary-General Helene Dollfus, FR T: 0043 1 405 13 83 20 or 35 Gunnar Houge, NO David FitzPatrick, UK F: 0043 1 407 82 74 Maurizio Genuardi, IT E: [email protected] Deputy-Secretary-General Daniel Grinberg, ES www.eshg.org Karin Writzl, SI Gunnar Houge, NO Treasurer Erik Iwarsson, SE Andrew Read, UK Xavier Jeunemaitre, FR Mark Longmuir, UK Executive Officer Jose C. Machado, PT Jerome del Picchia, AT Dominic McMullan, UK Giovanni Neri, IT William Newman, UK Minna Nyström, FI Pia Ostergaard, UK Francesc Palau, ES Anita Rauch, CH Samuli Ripatti, FI Peter N. Robinson, DE Kristel van Steen, BE Joris Veltman, NL Joris Vermeesch, BE Emma Woodward, UK Karin Writzl, SI Board Members Liaison Members Yasemin Alanay, TR Stan Lyonnet, FR Martina Cornel, NL Martijn Breuning, NL Julie McGaughran, AU Ulf Kristoffersson, SE Pascal Borry, BE Bela Melegh, HU Thomas Liehr, DE Nina Canki-Klain, HR Will Newman, UK Milan Macek Jr., CZ Ana Carrió, ES Markus Nöthen, DE Tayfun Ozcelik, TR Isabella Ceccherini, IT Markus Perola, FI Milena Paneque, PT Angus John Clarke, UK Dijana Plaseska-Karanfilska, MK Hans Scheffer, NL Koen Devriendt, BE Trine E. -
Noelia Díaz Blanco
Effects of environmental factors on the gonadal transcriptome of European sea bass (Dicentrarchus labrax), juvenile growth and sex ratios Noelia Díaz Blanco Ph.D. thesis 2014 Submitted in partial fulfillment of the requirements for the Ph.D. degree from the Universitat Pompeu Fabra (UPF). This work has been carried out at the Group of Biology of Reproduction (GBR), at the Department of Renewable Marine Resources of the Institute of Marine Sciences (ICM-CSIC). Thesis supervisor: Dr. Francesc Piferrer Professor d’Investigació Institut de Ciències del Mar (ICM-CSIC) i ii A mis padres A Xavi iii iv Acknowledgements This thesis has been made possible by the support of many people who in one way or another, many times unknowingly, gave me the strength to overcome this "long and winding road". First of all, I would like to thank my supervisor, Dr. Francesc Piferrer, for his patience, guidance and wise advice throughout all this Ph.D. experience. But above all, for the trust he placed on me almost seven years ago when he offered me the opportunity to be part of his team. Thanks also for teaching me how to question always everything, for sharing with me your enthusiasm for science and for giving me the opportunity of learning from you by participating in many projects, collaborations and scientific meetings. I am also thankful to my colleagues (former and present Group of Biology of Reproduction members) for your support and encouragement throughout this journey. To the “exGBRs”, thanks for helping me with my first steps into this world. Working as an undergrad with you Dr. -
SANTA CRUZ BIOTECHNOLOGY, INC. FAM60A Sirna (M): Sc-145049
SANTA CRUZ BIOTECHNOLOGY, INC. FAM60A siRNA (m): sc-145049 BACKGROUND STORAGE AND RESUSPENSION Encoding over 1,100 genes within 132 million bases, chromosome 12 makes Store lyophilized siRNA duplex at -20° C with desiccant. Stable for at least up about 4.5% of the human genome. A number of skeletal deformities are one year from the date of shipment. Once resuspended, store at -20° C, linked to chromosome 12 including hypochondrogenesis, achondrogenesis and avoid contact with RNAses and repeated freeze thaw cycles. Kniest dysplasia. Noonan syndrome, which includes heart and facial develop- Resuspend lyophilized siRNA duplex in 330 µl of the RNAse-free water mental defects among the primary symptoms, is caused by a mutant form of provided. Resuspension of the siRNA duplex in 330 µl of RNAse-free water PTPN11 gene product, SH-PTP2. Chromosome 12 is also home to a homeobox makes a 10 µM solution in a 10 µM Tris-HCl, pH 8.0, 20 mM NaCl, 1 mM gene cluster which encodes crucial transcription factors for morphogenesis, EDTA buffered solution. and the natural killer complex gene cluster encoding C-type lectin proteins which mediate the NK cell response to MHC I interaction. Trisomy 12p leads APPLICATIONS to facial development defects, seizure disorders and a host of other symptoms varying in severity depending on the extent of mosaicism and is most severe FAM60A siRNA (m) is recommended for the inhibition of FAM60A expression in cases of complete trisomy. The FAM60A gene product has been provision- in mouse cells. ally designated FAM60A pending further characterization. SUPPORT REAGENTS REFERENCES For optimal siRNA transfection efficiency, Santa Cruz Biotechnology’s 1. -
Temporal Proteomic Analysis of HIV Infection Reveals Remodelling of The
1 1 Temporal proteomic analysis of HIV infection reveals 2 remodelling of the host phosphoproteome 3 by lentiviral Vif variants 4 5 Edward JD Greenwood 1,2,*, Nicholas J Matheson1,2,*, Kim Wals1, Dick JH van den Boomen1, 6 Robin Antrobus1, James C Williamson1, Paul J Lehner1,* 7 1. Cambridge Institute for Medical Research, Department of Medicine, University of 8 Cambridge, Cambridge, CB2 0XY, UK. 9 2. These authors contributed equally to this work. 10 *Correspondence: [email protected]; [email protected]; [email protected] 11 12 Abstract 13 Viruses manipulate host factors to enhance their replication and evade cellular restriction. 14 We used multiplex tandem mass tag (TMT)-based whole cell proteomics to perform a 15 comprehensive time course analysis of >6,500 viral and cellular proteins during HIV 16 infection. To enable specific functional predictions, we categorized cellular proteins regulated 17 by HIV according to their patterns of temporal expression. We focussed on proteins depleted 18 with similar kinetics to APOBEC3C, and found the viral accessory protein Vif to be 19 necessary and sufficient for CUL5-dependent proteasomal degradation of all members of the 20 B56 family of regulatory subunits of the key cellular phosphatase PP2A (PPP2R5A-E). 21 Quantitative phosphoproteomic analysis of HIV-infected cells confirmed Vif-dependent 22 hyperphosphorylation of >200 cellular proteins, particularly substrates of the aurora kinases. 23 The ability of Vif to target PPP2R5 subunits is found in primate and non-primate lentiviral 2 24 lineages, and remodeling of the cellular phosphoproteome is therefore a second ancient and 25 conserved Vif function. -
Alterações De Número De Cópias Genômicas Em Hepatoblastomas: Microarranjos Genômicos E Sequenciamento De Nova Geração
Juliana Sobral de Barros Alterações de número de cópias genômicas em hepatoblastomas: microarranjos genômicos e sequenciamento de nova geração Chromosomal copy number changes in hepatoblastomas: genomic microarrays and next generation sequencing São Paulo 2019 Juliana Sobral de Barros Alterações de número de cópias genômicas em hepatoblastomas: microarranjos genômicos e sequenciamento de nova geração Chromosomal copy number changes in hepatoblastomas: genomic microarrays and next generation sequencing Dissertação apresentada ao Departamento de Genética e Biologia Evolutiva do Instituto de Biociências da Universidade de São Paulo, para a obtenção de Título de Mestre como requisito para obtenção do título de Mestre em Ciências, na área de concentração Biologia (Genética). Orientadora: Prof.ª Dr.ª Ana Cristina Victorino Krepischi EXEMPLAR CORRIGIDO O original encontra-se disponível no Instituto de Biociências. São Paulo 2019 FICHA CATALOGRÁFICA Barros, Juliana Sobral de Alterações de número de cópias genômicas em hepatoblastomas: microarranjos genômicos e sequenciamento de nova geração / Juliana Sobral de Barros; orientadora: Ana Cristina Victorino Krepischi. - São Paulo, 2019. 136 f. Dissertação (Mestrado) - Instituto de Biociências da Universidade de São Paulo. Departamento de Genética e Biologia evolutiva. 1. Hepatoblastoma. 2. Alteração de número de cópias. 3. Microarranjo genômico. 4. Sequenciamento de nova geração. 5. Tumor embrionário. I. Universidade de São Paulo. Instituto de Biociências. Departamento de Genética e Biologia evolutiva. -
Supplementary Tables S1-S3
Supplementary Table S1: Real time RT-PCR primers COX-2 Forward 5’- CCACTTCAAGGGAGTCTGGA -3’ Reverse 5’- AAGGGCCCTGGTGTAGTAGG -3’ Wnt5a Forward 5’- TGAATAACCCTGTTCAGATGTCA -3’ Reverse 5’- TGTACTGCATGTGGTCCTGA -3’ Spp1 Forward 5'- GACCCATCTCAGAAGCAGAA -3' Reverse 5'- TTCGTCAGATTCATCCGAGT -3' CUGBP2 Forward 5’- ATGCAACAGCTCAACACTGC -3’ Reverse 5’- CAGCGTTGCCAGATTCTGTA -3’ Supplementary Table S2: Genes synergistically regulated by oncogenic Ras and TGF-β AU-rich probe_id Gene Name Gene Symbol element Fold change RasV12 + TGF-β RasV12 TGF-β 1368519_at serine (or cysteine) peptidase inhibitor, clade E, member 1 Serpine1 ARE 42.22 5.53 75.28 1373000_at sushi-repeat-containing protein, X-linked 2 (predicted) Srpx2 19.24 25.59 73.63 1383486_at Transcribed locus --- ARE 5.93 27.94 52.85 1367581_a_at secreted phosphoprotein 1 Spp1 2.46 19.28 49.76 1368359_a_at VGF nerve growth factor inducible Vgf 3.11 4.61 48.10 1392618_at Transcribed locus --- ARE 3.48 24.30 45.76 1398302_at prolactin-like protein F Prlpf ARE 1.39 3.29 45.23 1392264_s_at serine (or cysteine) peptidase inhibitor, clade E, member 1 Serpine1 ARE 24.92 3.67 40.09 1391022_at laminin, beta 3 Lamb3 2.13 3.31 38.15 1384605_at Transcribed locus --- 2.94 14.57 37.91 1367973_at chemokine (C-C motif) ligand 2 Ccl2 ARE 5.47 17.28 37.90 1369249_at progressive ankylosis homolog (mouse) Ank ARE 3.12 8.33 33.58 1398479_at ryanodine receptor 3 Ryr3 ARE 1.42 9.28 29.65 1371194_at tumor necrosis factor alpha induced protein 6 Tnfaip6 ARE 2.95 7.90 29.24 1386344_at Progressive ankylosis homolog (mouse) -
W O 2015/092737 a L 2 5 June 2015 (25.06.2015) P O P C T
(12) INTERNATIONAL APPLICATION PUBLISHED UNDER THE PATENT COOPERATION TREATY (PCT) (19) World Intellectual Property Organization International Bureau (10) International Publication Number (43) International Publication Date W O 2015/092737 A l 2 5 June 2015 (25.06.2015) P O P C T (51) International Patent Classification: DO, DZ, EC, EE, EG, ES, FI, GB, GD, GE, GH, GM, GT, C07K 16/00 (2006.01) HN, HR, HU, ID, IL, IN, IR, IS, JP, KE, KG, KN, KP, KR, KZ, LA, LC, LK, LR, LS, LU, LY, MA, MD, ME, MG, (21) International Application Number: MK, MN, MW, MX, MY, MZ, NA, NG, NI, NO, NZ, OM, PCT/IB20 14/067076 PA, PE, PG, PH, PL, PT, QA, RO, RS, RU, RW, SA, SC, (22) International Filing Date: SD, SE, SG, SK, SL, SM, ST, SV, SY, TH, TJ, TM, TN, 18 December 2014 (18. 12.2014) TR, TT, TZ, UA, UG, US, UZ, VC, VN, ZA, ZM, ZW. (25) Filing Language: English (84) Designated States (unless otherwise indicated, for every kind of regional protection available): ARIPO (BW, GH, (26) Publication Language: English GM, KE, LR, LS, MW, MZ, NA, RW, SD, SL, ST, SZ, (30) Priority Data: TZ, UG, ZM, ZW), Eurasian (AM, AZ, BY, KG, KZ, RU, 61/ 19,340 20 December 201 3 (20. 12.20 13) US TJ, TM), European (AL, AT, BE, BG, CH, CY, CZ, DE, DK, EE, ES, FI, FR, GB, GR, HR, HU, IE, IS, IT, LT, LU, (71) Applicant (for all designated States except US) : NO- LV, MC, MK, MT, NL, NO, PL, PT, RO, RS, SE, SI, SK, VARTIS A G [CH/CH]; Lichtstrasse 35, CH-4056 Basel SM, TR), OAPI (BF, BJ, CF, CG, CI, CM, GA, GN, GQ, (CH). -
SINHCAF/FAM60A Links SIN3A Function to the Hypoxia Response and Its Levels Are Predictive of Cancer Patient Survival
bioRxiv preprint doi: https://doi.org/10.1101/176032; this version posted August 15, 2017. The copyright holder for this preprint (which was not certified by peer review) is the author/funder. All rights reserved. No reuse allowed without permission. SINHCAF/FAM60A links SIN3A function to the hypoxia response and its levels are predictive of cancer patient survival John Biddlestone1,2, Michael Batie1, Alena Shmakova1, Daniel Bandarra1, Elena V. Knatko3, Albena T. Dinkova-Kostova3, Ivan Munoz4, Ramasubramanian Sundaramoorthy1, Tom Owen-Hughes1, Sonia Rocha1, 5*. 1 - Centre for Gene Regulation and Expression, School of Life Sciences, University of Dundee, Dundee, UK, DD1 5EH. 2 – SCREDS Clinical Lecturer in Plastic and Reconstructive Surgery, Centre for Cell Engineering, University of Glasgow, Glasgow, UK, G12 8QQ. 3-Division of Cancer Research, School of Medicine, University of Dundee, Dundee, UK, DD1 9SY. 4 - MRC Protein Phosphorylation Unit, School of Life Sciences, University of Dundee, Dundee, UK, DD1 5EH. 5-Department of Biochemistry, Institute for Integrative Biology, University of Liverpool, Liverpool, UK, L69 7ZB. e-mail addresses of all authors: John Biddlestone: [email protected] Michael Batie: [email protected] Alena Shmakova: [email protected] Daniel Bandarra: [email protected] Elena Knatko: [email protected] Albena Dinkova-Kostova: [email protected] Ivan Munoz: [email protected] Ramasubramanian Sundaramoorthy: [email protected] Tom Owen-Hughes: [email protected] Sonia Rocha: [email protected] Telephone for corresponding author (*): Sonia Rocha +44 151 7949084 Running Tittle: SINHCAF/FAM60A links Sin3A to the hypoxia response 1 bioRxiv preprint doi: https://doi.org/10.1101/176032; this version posted August 15, 2017. -
Identification and Functional Analysis of Gene Expression Changes In
Identification and Functional Analysis of Gene Expression Changes in Acute Myeloid Leukaemia KOK Chung Hoow A thesis submitted in fulfilment of the requirement for the degree of Doctor of Philosophy in the School of Paediatrics and Reproductive Health at the University of Adelaide August 2010 Table of Contents List of Figures ……………………………………………………………………………..... i List of Tables ………………………………………………………………………………...v List of Appendix …………………………………………………………………………....vii Abbreviations ……………………………………………………………………………...viii Abstract …………………………………………………………………………………….xii Declaration …………………………………………………………………………………xiv Acknowledgement ………………………………………………………………………….xv Chapter 1: Introduction......................................................................................................1 1.1 Acute Myeloid Leukaemia ................................................................................................. 1 1.1.1 The classification and the prognostic outcome of AML .................................................. 1 1.1.2 Targeted therapies on AML ............................................................................................. 7 1.2 Haemopoiesis: interplay between growth factor signalling and lineage-specific transcription factors ...................................................................................................................... 12 1.2.1 The importance of growth factors in haemopoiesis ....................................................... 12 1.2.2 Transcription factors that determine haemopoietic cell fates........................................ -
Molecular Targeting and Enhancing Anticancer Efficacy of Oncolytic HSV-1 to Midkine Expressing Tumors
University of Cincinnati Date: 12/20/2010 I, Arturo R Maldonado , hereby submit this original work as part of the requirements for the degree of Doctor of Philosophy in Developmental Biology. It is entitled: Molecular Targeting and Enhancing Anticancer Efficacy of Oncolytic HSV-1 to Midkine Expressing Tumors Student's name: Arturo R Maldonado This work and its defense approved by: Committee chair: Jeffrey Whitsett Committee member: Timothy Crombleholme, MD Committee member: Dan Wiginton, PhD Committee member: Rhonda Cardin, PhD Committee member: Tim Cripe 1297 Last Printed:1/11/2011 Document Of Defense Form Molecular Targeting and Enhancing Anticancer Efficacy of Oncolytic HSV-1 to Midkine Expressing Tumors A dissertation submitted to the Graduate School of the University of Cincinnati College of Medicine in partial fulfillment of the requirements for the degree of DOCTORATE OF PHILOSOPHY (PH.D.) in the Division of Molecular & Developmental Biology 2010 By Arturo Rafael Maldonado B.A., University of Miami, Coral Gables, Florida June 1993 M.D., New Jersey Medical School, Newark, New Jersey June 1999 Committee Chair: Jeffrey A. Whitsett, M.D. Advisor: Timothy M. Crombleholme, M.D. Timothy P. Cripe, M.D. Ph.D. Dan Wiginton, Ph.D. Rhonda D. Cardin, Ph.D. ABSTRACT Since 1999, cancer has surpassed heart disease as the number one cause of death in the US for people under the age of 85. Malignant Peripheral Nerve Sheath Tumor (MPNST), a common malignancy in patients with Neurofibromatosis, and colorectal cancer are midkine- producing tumors with high mortality rates. In vitro and preclinical xenograft models of MPNST were utilized in this dissertation to study the role of midkine (MDK), a tumor-specific gene over- expressed in these tumors and to test the efficacy of a MDK-transcriptionally targeted oncolytic HSV-1 (oHSV).