דוקטור לפילוסופיה Doctor of Philosophy
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Comprehensive Identification and Characterization of Somatic Copy Number Alterations in Triple‑Negative Breast Cancer
INTERNATIONAL JOURNAL OF ONCOLOGY 56: 522-530, 2020 Comprehensive identification and characterization of somatic copy number alterations in triple‑negative breast cancer ZAIBING LI1,2*, XIAO ZHANG3*, CHENXIN HOU4, YUQING ZHOU4, JUNLI CHEN1, HAOYANG CAI5, YIFENG YE3, JINPING LIU3 and NING HUANG1 1Department of Pathophysiology, West China School of Basic Medical Sciences and Forensic Medicine, Sichuan University, Chengdu, Sichuan 610041; 2Department of Pathophysiology, School of Basic Medical Science, Southwest Medical University, Luzhou, Sichuan 646000; 3Department of Breast Surgery, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, Sichuan 611731; 4West China Medical School, Sichuan University, Chengdu, Sichuan 610041; 5Center of Growth, Metabolism and Aging, Key Laboratory of Bio‑Resources and Eco‑Environment, College of Life Sciences, Sichuan University, Chengdu, Sichuan 610064, P.R. China Received January 30, 2019; Accepted August 30, 2019 DOI: 10.3892/ijo.2019.4950 Abstract. Triple-negative breast cancer (TNBC) accounts hierarchical clustering of tumors resulted in three main for ~15% of all breast cancer diagnoses each year. Patients subgroups that exhibited distinct CNA profiles, which with TNBC tend to have a higher risk for early relapse and may reveal the heterogeneity of molecular mechanisms in a worse prognosis. TNBC is characterized by extensive TNBC subgroups. These results will extend the molecular somatic copy number alterations (CNAs). However, the DNA understanding of TNBC and will facilitate the discovery of CNA profile of TNBC remains to be extensively investigated. therapeutic and diagnostic target candidates. The present study assessed the genomic profile of CNAs in 201 TNBC samples, aiming to identify recurrent CNAs that Introduction may drive the pathogenesis of TNBC. -
Differentially Expressed on Collagen Networks 1, 2, 10 © 2000-2009 Ingenuity Systems, Inc. All Rights Reserved. Symbol Entrez
Differentially expressed on collagen Networks 1, 2, 10 © 2000-2009 Ingenuity Systems, Inc. All rights reserved. Symbol Entrez Gene Name Affymetrix Fold Change Location Family ALDH1A3 aldehyde dehydrogenase 1 family, member A3 203180_at -5.43125168 Cytoplasm enzyme 209772_s_ Plasma CD24 CD24 molecule at -4.32890229 Membrane other HSD11B2 hydroxysteroid (11-beta) dehydrogenase 2 204130_at -4.1099197 Cytoplasm enzyme Plasma AMOTL2 angiomotin like 2 203002_at -2.82872773 Membrane other transcription DLX2 distal-less homeobox 2 207147_at -2.74996362 Nucleus regulator 221215_s_ RIPK4 receptor-interacting serine-threonine kinase 4 at -2.56556472 Nucleus kinase PLK2 polo-like kinase 2 (Drosophila) 201939_at -2.47054478 Nucleus kinase ALDH3A1 aldehyde dehydrogenase 3 family, memberA1 205623_at -2.30532989 Cytoplasm enzyme TXNRD1 thioredoxin reductase 1 201266_at -2.27936909 Cytoplasm enzyme Extracellular CYR61 cysteine-rich, angiogenic inducer, 61 201289_at -2.09052668 Space other 214212_x_ FERMT2 fermitin family homolog 2 (Drosophila) at -1.87478183 Cytoplasm other Plasma RIT1 Ras-like without CAAX 1 209882_at -1.77586775 Membrane enzyme 210297_s_ Extracellular MSMB microseminoprotein, beta- at -1.72177723 Space other Extracellular PI3 peptidase inhibitor 3, skin-derived 203691_at -1.68135697 Space other ALDH3B1 aldehyde dehydrogenase 3 family, member B1 205640_at -1.67376791 Cytoplasm enzyme 202124_s_ Plasma TRAK2 trafficking protein, kinesin binding 2 at -1.6367793 Membrane transporter BMP and activin membrane-bound inhibitor Plasma BAMBI -
Predicting Gene Ontology Biological Process from Temporal Gene Expression Patterns Astrid Lægreid,1,4 Torgeir R
Methods Predicting Gene Ontology Biological Process From Temporal Gene Expression Patterns Astrid Lægreid,1,4 Torgeir R. Hvidsten,2 Herman Midelfart,2 Jan Komorowski,2,3,4 and Arne K. Sandvik1 1Department of Cancer Research and Molecular Medicine, Norwegian University of Science and Technology, N-7489 Trondheim, Norway; 2Department of Information and Computer Science, Norwegian University of Science and Technology, N-7491 Trondheim, Norway; 3The Linnaeus Centre for Bioinformatics, Uppsala University, SE-751 24 Uppsala, Sweden The aim of the present study was to generate hypotheses on the involvement of uncharacterized genes in biological processes. To this end,supervised learning was used to analyz e microarray-derived time-series gene expression data. Our method was objectively evaluated on known genes using cross-validation and provided high-precision Gene Ontology biological process classifications for 211 of the 213 uncharacterized genes in the data set used. In addition,new roles in biological process were hypothesi zed for known genes. Our method uses biological knowledge expressed by Gene Ontology and generates a rule model associating this knowledge with minimal characteristic features of temporal gene expression profiles. This model allows learning and classification of multiple biological process roles for each gene and can predict participation of genes in a biological process even though the genes of this class exhibit a wide variety of gene expression profiles including inverse coregulation. A considerable number of the hypothesized new roles for known genes were confirmed by literature search. In addition,many biological process roles hypothesi zed for uncharacterized genes were found to agree with assumptions based on homology information. -
MOLECULAR G EN ETICS of the January, HUMAN X
MOLECULAR GENETICS OF THE HUMAN X CHROMOSOME BY DAVID ANDREW HARTLEY a thesis submitted for the degree of Doctor of Philosophy in the University of London January, 1984 Department of Biochemistry St. Mary's Hospital Medical School London W2 IPG 1 Abstract The comparison of frequency of recombination with chromosomal position has been possible only in Drosophila melanogaster but it is known that chiasma distribution in the human male (and many other species) is not random. A number of cloned DNA sequences have been isolated from a library enriched for X chromosome DNA by flow cytometry. The chromosomal loci complementary to these cloned sequences have been investigated by hybridization to somatic cell hybrid DNAs and by direct hybridization 1 in situ' to human metaphase spreads. In this way a cytological map of the X chromosome defined by DNA sequence markers has been constructed. Genetic distances complementary to the physical separations determined have been estimated by determining the segregation of DNA sequence variants at each locus in three generation p e d i g r e e s . The sequence variation is manifested as altered restriction fragment migration in agarose gels. It is intimated from these analyses that the pattern of recombination frequency along the human X chromosome mirrors the non-random chiasma distribution seen along male autosomes. This supports the chiasmatype theory and has implications on the availability of genetic components of the X chromosome to recombination. 2 To ray father in the hope of convincing him of life outside o f E.coli 3 ...scientists getting their kicks when deadly disease can do as it pleases results ain't hard to predict Gil Scott-Heron 4 Ack n ov; ledgements To my supervisor Bob Williamson for support. -
Reproduction
REPRODUCTIONRESEARCH Focus on Mammalian Embryogenomics Molecular and subcellular characterisation of oocytes screened for their developmental competence based on glucose-6-phosphate dehydrogenase activity Helmut Torner2, Nasser Ghanem, Christina Ambros2, Michael Ho¨lker, Wolfgang Tomek2, Chirawath Phatsara, Hannelore Alm2, Marc-Andre´ Sirard1, Wilhelm Kanitz2, Karl Schellander and Dawit Tesfaye Animal Breeding and Husbandry Group, Department of Animal Breeding and Husbandry, Institute of Animal Science, University of Bonn, Endenicher allee 15, 53115 Bonn, Germany, 1De´partement des Sciences Animales, Centre de Recherche en Biologie de la Reproduction, Universite´ Laval, Pav. Comtois, Laval, Sainte-Foy, Que´bec, G1K 7P4, Canada and 2Research Institute for the Biology of Farm Animals, Wilhelm-Stahl-Allee 2, 18196 Dummerstorf, Germany Correspondence should be addressed to D Tesfaye; Email: [email protected] Abstract Oocyte selection based on glucose-6-phosphate dehydrogenase (G6PDH) activity has been successfully used to differentiate between competent and incompetent bovine oocytes. However, the intrinsic molecular and subcellular characteristics of these oocytes have not yet been investigated. Here, we aim to identify molecular and functional markers associated with oocyte developmental potential when selected based on G6PDH activity. Immature compact cumulus–oocyte complexes were stained with brilliant cresyl blue (BCB) for 90 min. Based on K C their colouration, oocytes were divided into BCB (colourless cytoplasm, high G6PDH activity) and BCB (coloured cytoplasm, low G6PDH activity). The chromatin configuration of the nucleus and the mitochondrial activityof oocytes were determined by fluorescence labelling and photometric measurement. The abundance and phosphorylation pattern of protein kinases Akt and MAP were estimated by Western blot C K analysis. -
1471-2164-10-261.Pdf
BMC Genomics BioMed Central Research article Open Access Molecular signature of cell cycle exit induced in human T lymphoblasts by IL-2 withdrawal Magdalena Chechlinska*1, Jan Konrad Siwicki1, Monika Gos2, Malgorzata Oczko-Wojciechowska3, Michal Jarzab4, Aleksandra Pfeifer3, Barbara Jarzab3 and Jan Steffen1 Address: 1Department of Immunology, Maria Sklodowska-Curie Memorial Cancer Centre and Institute of Oncology, Warsaw, Poland, 2Department of Cell Biology, Maria Sklodowska-Curie Memorial Cancer Centre and Institute of Oncology, Warsaw, Poland, 3Department of Nuclear Medicine and Endocrine Oncology, Maria Sklodowska-Curie Memorial Cancer Centre and Institute of Oncology, Gliwice, Poland and 4Department of Tumor Biology and Clinical Oncology, Maria Sklodowska-Curie Memorial Cancer Centre and Institute of Oncology, Gliwice, Poland Email: Magdalena Chechlinska* - [email protected]; Jan Konrad Siwicki - [email protected]; Monika Gos - [email protected]; Malgorzata Oczko-Wojciechowska - [email protected]; Michal Jarzab - [email protected]; Aleksandra Pfeifer - [email protected]; Barbara Jarzab - [email protected]; Jan Steffen - [email protected] * Corresponding author Published: 8 June 2009 Received: 20 February 2009 Accepted: 8 June 2009 BMC Genomics 2009, 10:261 doi:10.1186/1471-2164-10-261 This article is available from: http://www.biomedcentral.com/1471-2164/10/261 © 2009 Chechlinska et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Abstract Background: The molecular mechanisms of cell cycle exit are poorly understood. -
Nº Ref Uniprot Proteína Péptidos Identificados Por MS/MS 1 P01024
Document downloaded from http://www.elsevier.es, day 26/09/2021. This copy is for personal use. Any transmission of this document by any media or format is strictly prohibited. Nº Ref Uniprot Proteína Péptidos identificados 1 P01024 CO3_HUMAN Complement C3 OS=Homo sapiens GN=C3 PE=1 SV=2 por 162MS/MS 2 P02751 FINC_HUMAN Fibronectin OS=Homo sapiens GN=FN1 PE=1 SV=4 131 3 P01023 A2MG_HUMAN Alpha-2-macroglobulin OS=Homo sapiens GN=A2M PE=1 SV=3 128 4 P0C0L4 CO4A_HUMAN Complement C4-A OS=Homo sapiens GN=C4A PE=1 SV=1 95 5 P04275 VWF_HUMAN von Willebrand factor OS=Homo sapiens GN=VWF PE=1 SV=4 81 6 P02675 FIBB_HUMAN Fibrinogen beta chain OS=Homo sapiens GN=FGB PE=1 SV=2 78 7 P01031 CO5_HUMAN Complement C5 OS=Homo sapiens GN=C5 PE=1 SV=4 66 8 P02768 ALBU_HUMAN Serum albumin OS=Homo sapiens GN=ALB PE=1 SV=2 66 9 P00450 CERU_HUMAN Ceruloplasmin OS=Homo sapiens GN=CP PE=1 SV=1 64 10 P02671 FIBA_HUMAN Fibrinogen alpha chain OS=Homo sapiens GN=FGA PE=1 SV=2 58 11 P08603 CFAH_HUMAN Complement factor H OS=Homo sapiens GN=CFH PE=1 SV=4 56 12 P02787 TRFE_HUMAN Serotransferrin OS=Homo sapiens GN=TF PE=1 SV=3 54 13 P00747 PLMN_HUMAN Plasminogen OS=Homo sapiens GN=PLG PE=1 SV=2 48 14 P02679 FIBG_HUMAN Fibrinogen gamma chain OS=Homo sapiens GN=FGG PE=1 SV=3 47 15 P01871 IGHM_HUMAN Ig mu chain C region OS=Homo sapiens GN=IGHM PE=1 SV=3 41 16 P04003 C4BPA_HUMAN C4b-binding protein alpha chain OS=Homo sapiens GN=C4BPA PE=1 SV=2 37 17 Q9Y6R7 FCGBP_HUMAN IgGFc-binding protein OS=Homo sapiens GN=FCGBP PE=1 SV=3 30 18 O43866 CD5L_HUMAN CD5 antigen-like OS=Homo -
Regulation of COX Assembly and Function by Twin CX9C Proteins—Implications for Human Disease
cells Review Regulation of COX Assembly and Function by Twin CX9C Proteins—Implications for Human Disease Stephanie Gladyck 1, Siddhesh Aras 1,2, Maik Hüttemann 1 and Lawrence I. Grossman 1,2,* 1 Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, MI 48201, USA; [email protected] (S.G.); [email protected] (S.A.); [email protected] (M.H.) 2 Perinatology Research Branch, Division of Obstetrics and Maternal-Fetal Medicine, Division of Intramural Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, U.S. Department of Health and Human Services, Bethesda, Maryland and Detroit, MI 48201, USA * Correspondence: [email protected] Abstract: Oxidative phosphorylation is a tightly regulated process in mammals that takes place in and across the inner mitochondrial membrane and consists of the electron transport chain and ATP synthase. Complex IV, or cytochrome c oxidase (COX), is the terminal enzyme of the electron transport chain, responsible for accepting electrons from cytochrome c, pumping protons to contribute to the gradient utilized by ATP synthase to produce ATP, and reducing oxygen to water. As such, COX is tightly regulated through numerous mechanisms including protein–protein interactions. The twin CX9C family of proteins has recently been shown to be involved in COX regulation by assisting with complex assembly, biogenesis, and activity. The twin CX9C motif allows for the import of these proteins into the intermembrane space of the mitochondria using the redox import machinery of Mia40/CHCHD4. Studies have shown that knockdown of the proteins discussed in this review results in decreased or completely deficient aerobic respiration in experimental models ranging from yeast to human cells, as the proteins are conserved across species. -
Combined Analysis of Genome-Wide Expression and Copy Number
Fontanillo et al. BMC Genomics 2012, 13(Suppl 5):S5 http://www.biomedcentral.com/1471-2164/13/S5/S5 RESEARCH Open Access Combined analysis of genome-wide expression and copy number profiles to identify key altered genomic regions in cancer Celia Fontanillo1, Sara Aibar1, Jose Manuel Sanchez-Santos2, Javier De Las Rivas1* From X-meeting 2011 - International Conference on the Brazilian Association for Bioinformatics and Compu- tational Biology Florianópolis, Brazil. 12-15 October 2011 Abstract Background: Analysis of DNA copy number alterations and gene expression changes in human samples have been used to find potential target genes in complex diseases. Recent studies have combined these two types of data using different strategies, but focusing on finding gene-based relationships. However, it has been proposed that these data can be used to identify key genomic regions, which may enclose causal genes under the assumption that disease-associated gene expression changes are caused by genomic alterations. Results: Following this proposal, we undertake a new integrative analysis of genome-wide expression and copy number datasets. The analysis is based on the combined location of both types of signals along the genome. Our approach takes into account the genomic location in the copy number (CN) analysis and also in the gene expression (GE) analysis. To achieve this we apply a segmentation algorithm to both types of data using paired samples. Then, we perform a correlation analysis and a frequency analysis of the gene loci in the segmented CN regions and the segmented GE regions; selecting in both cases the statistically significant loci. In this way, we find CN alterations that show strong correspondence with GE changes. -
Download Special Issue
International Journal of Genomics Noncoding RNAs in Health and Disease Lead Guest Editor: Michele Purrello Guest Editors: Massimo Romani and Davide Barbagallo Noncoding RNAs in Health and Disease International Journal of Genomics Noncoding RNAs in Health and Disease Lead Guest Editor: Michele Purrello Guest Editors: Massimo Romani and Davide Barbagallo Copyright © 2018 Hindawi. All rights reserved. This is a special issue published in “International Journal of Genomics.” All articles are open access articles distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Editorial Board Andrea C. Belin, Sweden M. Hadzopoulou-Cladaras, Greece Ferenc Olasz, Hungary Jacques Camonis, France Sylvia Hagemann, Austria Elena Pasyukova, Russia Prabhakara V. Choudary, USA Henry Heng, USA Graziano Pesole, Italy Martine A. Collart, Switzerland Eivind Hovig, Norway Giulia Piaggio, Italy Monika Dmitrzak-Weglarz, Poland Hieronim Jakubowski, USA Mohamed Salem, USA Marco Gerdol, Italy B.-H. Jeong, Republic of Korea Wilfred van IJcken, Netherlands João Paulo Gomes, Portugal Atsushi Kurabayashi, Japan Brian Wigdahl, USA Soraya E. Gutierrez, Chile Giuliana Napolitano, Italy Jinfa Zhang, USA Contents Noncoding RNAs in Health and Disease Davide Barbagallo, Gaetano Vittone, Massimo Romani , and Michele Purrello Volume 2018, Article ID 9135073, 2 pages Circular RNAs: Biogenesis, Function, and a Role as Possible Cancer Biomarkers Luka Bolha, -
Candidate Genes for Alcohol Preference Identified by Expression
Liang et al. Genome Biology 2010, 11:R11 http://genomebiology.com/2010/11/2/R11 RESEARCH Open Access Candidate genes for alcohol preference identified by expression profiling in alcohol-preferring and -nonpreferring reciprocal congenic rats Tiebing Liang1*, Mark W Kimpel2, Jeanette N McClintick3, Ashley R Skillman1, Kevin McCall4, Howard J Edenberg3, Lucinda G Carr1 Abstract Background: Selectively bred alcohol-preferring (P) and alcohol-nonpreferring (NP) rats differ greatly in alcohol preference, in part due to a highly significant quantitative trait locus (QTL) on chromosome 4. Alcohol consumption scores of reciprocal chromosome 4 congenic strains NP.P and P.NP correlated with the introgressed interval. The goal of this study was to identify candidate genes that may influence alcohol consumption by comparing gene expression in five brain regions of alcohol-naïve inbred alcohol-preferring and P.NP congenic rats: amygdala, nucleus accumbens, hippocampus, caudate putamen, and frontal cortex. Results: Within the QTL region, 104 cis-regulated probe sets were differentially expressed in more than one region, and an additional 53 were differentially expressed in a single region. Fewer trans-regulated probe sets were detected, and most differed in only one region. Analysis of the average expression values across the 5 brain regions yielded 141 differentially expressed cis-regulated probe sets and 206 trans-regulated probe sets. Comparing the present results from inbred alcohol-preferring vs. congenic P.NP rats to earlier results from the reciprocal congenic NP.P vs. inbred alcohol-nonpreferring rats demonstrated that 74 cis-regulated probe sets were differentially expressed in the same direction and with a consistent magnitude of difference in at least one brain region. -
Investigating Host Genes Involved In. HIY Control by a Novel Computational Method to Combine GWAS with Eqtl
Investigating Host Genes Involved in. HIY Control by a Novel Computational Method to Combine GWAS with eQTL by Yi Song THESIS Submitted In partial satisfaction of me teqoitements for the degree of MASTER OF SCIENCE In Biological and Medical Informatics In the GRADUATE DIVISION Copyright (2012) by Yi Song ii Acknowledgement First and foremost, I would like to thank my advisor Professor Hao Li, without whom this thesis would not have been possible. I am very grateful that Professor Li lead me into the field of human genomics and gave me the opportunity to pursue this interesting study in his laboratory. Besides the wealth of knowledge and invaluable insights that he offered in every meeting we had, Professor Li is one of the most approachable faculties I have met. I truly appreciate his patient guidance and his enthusiastic supervision throughout my master’s career. I am sincerely thankful to Professor Patricia Babbitt, the Associate Director of the Biomedical Informatics program at UCSF. Over my two years at UCSF, she has always been there to offer her help when I was faced with difficulties. I would also like to thank both Professor Babbitt and Professor Nevan Krogan for investing their valuable time in evaluating my work. I take immense pleasure in thanking my co-workers Dr. Xin He and Christopher Fuller. It has been a true enjoyment to discuss science with Dr. He, whose enthusiasm is a great inspiration to me. I also appreciate his careful editing of my thesis. Christopher Fuller, a PhD candidate in the Biomedical Informatics program, has provided great help for me on technical problems.