Genomes and Genes
Summary: Specific sequences of nucleotides along a molecule of DNA (or, in the case of some viruses, RNA) which represent functional units of HEREDITY. Most eukaryotic genes contain a set of coding regions (EXONS) that are spliced together in the transcript, after removal of intervening sequence (INTRONS) and are therefore labeled split genes.
Publications194 found, 100 shown here
- Bioinformatics enrichment tools: paths toward the comprehensive functional analysis of large gene listsDa Wei Huang
Laboratory of Immunopathogenesis and Bioinformatics, Clinical Services Program, SAIC Frederick, Inc, National Cancer Institute at Frederick, Frederick, MD 21702, USA
Nucleic Acids Res 37:1-13. 2009....
- A census of human cancer genesP Andrew Futreal
Cancer Genome Project, Human Genome Analysis Group and Pfam Group, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton Cambs, CB10 1SA, UK
Nat Rev Cancer 4:177-83. 2004
- Mammalian microRNAs: experimental evaluation of novel and previously annotated genesH Rosaria Chiang
Whitehead Institute for Biomedical Research, Cambridge, Massachusetts 02142, USA
Genes Dev 24:992-1009. 2010..Analysis of these sequences confirmed 398 annotated miRNA genes and identified 108 novel miRNA genes...
- The human genome browser at UCSCW James Kent
Department of Molecular, Cellular, and Developmental Biology, University of California, Santa Cruz, CA 95064, USA
Genome Res 12:996-1006. 2002..The conceptual and technical framework of the browser, its underlying MYSQL database, and overall use are described. The web site currently serves over 50,000 pages per day to over 3000 different users...
- Associating genes and protein complexes with disease via network propagationOron Vanunu
School of Computer Science, Tel Aviv University, Tel Aviv, Israel
PLoS Comput Biol 6:e1000641. 2010A fundamental challenge in human health is the identification of disease-causing genes. Recently, several studies have tackled this challenge via a network-based approach, motivated by the observation that genes causing the same or ..
- Phenotypic profiling of the human genome by time-lapse microscopy reveals cell division genesBeate Neumann
MitoCheck Project Group, European Molecular Biology Laboratory EMBL, Meyerhofstrasse 1, D 69117 Heidelberg, Germany
Nature 464:721-7. 2010Despite our rapidly growing knowledge about the human genome, we do not know all of the genes required for some of the most basic functions of life...
- McKusick's Online Mendelian Inheritance in Man (OMIM)Joanna Amberger
McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
Nucleic Acids Res 37:D793-6. 2009McKusick's Online Mendelian Inheritance in Man (OMIM; http://www.ncbi.nlm.nih.gov/omim), a knowledgebase of human genes and phenotypes, was originally published as a book, Mendelian Inheritance in Man, in 1966...
- GENCODE: producing a reference annotation for ENCODEJennifer Harrow
Wellcome Trust Sanger Institute, Wellcome Trust Campus, Hinxton, Cambridge CB10 1SA, UK
Genome Biol 7:S4.1-9. 2006The GENCODE consortium was formed to identify and map all protein-coding genes within the ENCODE regions...
- Transposases are the most abundant, most ubiquitous genes in natureRamy K Aziz
Computation Institute, University of Chicago, Chicago, IL 60637, USA
Nucleic Acids Res 38:4207-17. 2010b>Genes, like organisms, struggle for existence, and the most successful genes persist and widely disseminate in nature...
- Age-dependent DNA methylation of genes that are suppressed in stem cells is a hallmark of cancerAndrew E Teschendorff
University College London, London WC1E 6BT, UK
Genome Res 20:440-6. 2010Polycomb group proteins (PCGs) are involved in repression of genes that are required for stem cell differentiation...
- Overview of BioCreative II gene normalizationAlexander A Morgan
Biomedical Informatics, Stanford University, Stanford, CA, 94305, USA
Genome Biol 9:S3. 2008The goal of the gene normalization task is to link genes or gene products mentioned in the literature to biological databases. This is a key step in an accurate search of the biological literature...
- More than just orphans: are taxonomically-restricted genes important in evolution?Konstantin Khalturin
Zoological Institute, Christian Albrechts University Kiel, Olshausenstrasse 40, 24098 Kiel, Germany
Trends Genet 25:404-13. 2009Comparative genome analyses indicate that every taxonomic group so far studied contains 10-20% of genes that lack recognizable homologs in other species...
- Genomic footprints of a cryptic plastid endosymbiosis in diatomsAhmed Moustafa
Interdisciplinary Program in Genetics, University of Iowa, Iowa City, IA 52242, USA
Science 324:1724-6. 2009..However, recent analyses have turned up a handful of nuclear genes in chromalveolates that are of green algal derivation...
- GeneCodis: interpreting gene lists through enrichment analysis and integration of diverse biological informationRuben Nogales-Cadenas
Computer Architecture Department, Complutense University of Madrid, Madrid, Spain
Nucleic Acids Res 37:W317-22. 2009..In addition, GeneCodis can now be accessed through a public SOAP web services interface, enabling users to perform analysis from their own scripts and workflows. The application is freely available at http://genecodis.dacya.ucm.es...
- Origins, evolution, and phenotypic impact of new genesHenrik Kaessmann
Center for Integrative Genomics, University of Lausanne, CH 1015 Lausanne, Switzerland
Genome Res 20:1313-26. 2010Ever since the pre-molecular era, the birth of new genes with novel functions has been considered to be a major contributor to adaptive evolutionary innovation...
- Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemiaChristopher T Johansen
Department of Biochemistry, University of Western Ontario, London, Ontario, Canada
Nat Genet 42:684-7. 2010..Here we show an accumulation of rare variants, or a mutation skew, in GWAS-identified genes in individuals with hypertriglyceridemia (HTG)...
- Cholesterol-related genes in Alzheimer's diseaseM Axel Wollmer
Psychiatric University Clinics, University of Basel, 4025 Basel, Switzerland
Biochim Biophys Acta 1801:762-73. 2010..Against this background several other genes with a role in cholesterol metabolism have been investigated for association with AD...
- PosMed (Positional Medline): prioritizing genes with an artificial neural network comprising medical documents to accelerate positional cloningYuko Yoshida
Bioinformatics and Systems Engineering Division, RIKEN 1 7 22 Suehiro cho, Tsurumi ku, Yokohama, Kanagawa 230 0045, Japan
Nucleic Acids Res 37:W147-52. 2009PosMed (http://omicspace.riken.jp/) prioritizes candidate genes for positional cloning by employing our original database search engine GRASE, which uses an inferential process similar to an artificial neural network comprising ..
- FragGeneScan: predicting genes in short and error-prone readsMina Rho
School of Informatics and Computing, Indiana University, Bloomington, IN 47408, USA
Nucleic Acids Res 38:e191. 2010..e. the metagenome). Identification of genes directly from short reads has become an important yet challenging problem in annotating metagenomes, since the ..
- Linking genes to literature: text mining, information extraction, and retrieval applications for biologyMartin Krallinger
Structural Biology and Biocomputing Programme, Spanish Nacional Cancer Research Centre CNIO, Madrid, Spain
Genome Biol 9:S8. 2008..Additional descriptions of some of the systems discussed here are available on the internet http://zope.bioinfo.cnio.es/bionlp_tools/...
- Network properties of human disease genes with pleiotropic effectsSreenivas Chavali
The Unit for Clinical Systems Biology, University of Gothenburg, Medicinaregatan 5A, Gothenburg SE405 30, Sweden
BMC Syst Biol 4:78. 2010..Here, we hypothesized that the ability of human disease genes to cause pleiotropic effects would be associated with their network properties.
- Pol II and its associated epigenetic marks are present at Pol III-transcribed noncoding RNA genesArtem Barski
Laboratory of Molecular Immunology, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland, USA
Nat Struct Mol Biol 17:629-34. 2010..Despite detailed understanding of protein-coding gene expression, the transcription of noncoding RNA genes by RNA polymerase III (Pol III) is less well characterized...
- Determination of stable housekeeping genes, differentially regulated target genes and sample integrity: BestKeeper--Excel-based tool using pair-wise correlationsMichael W Pfaffl
Physiology, FML Weihenstephan, Centre of Life and Food Science, Technical University of Munich, Germany
Biotechnol Lett 26:509-15. 2004..prerequisite for internal standardisation of target gene expression data and many so called housekeeping genes with assumed stable expression can exhibit either up- or down-regulation under some experimental conditions...
- WebGestalt: an integrated system for exploring gene sets in various biological contextsBing Zhang
Graduate School in Genome Science and Technology, University of Tennessee-Oak Ridge National Laboratory, Oak Ridge, TN 37831, USA
Nucleic Acids Res 33:W741-8. 2005High-throughput technologies have led to the rapid generation of large-scale datasets about genes and gene products. These technologies have also shifted our research focus from 'single genes' to 'gene sets'...
- Leber congenital amaurosis: genes, proteins and disease mechanismsAnneke I den Hollander
Department of Human Genetics and Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, P O Box 9101, 6500 HB Nijmegen, The Netherlands
Prog Retin Eye Res 27:391-419. 2008..Linkage analysis, homozygosity mapping and candidate gene analysis facilitated the identification of 14 genes mutated in patients with LCA and juvenile retinal degeneration, which together explain approximately 70% of the ..
- RNA dust: where are the genes?Piero Carninci
Omics Science Center, RIKEN Yokohama Institute, Kanagawa, Japan
DNA Res 17:51-9. 2010..However, in contrast with this paucity of protein coding 'genes', there is an enormous complexity in transcription and the protein coding mRNAs contribute to a very small ..
- Endogenous retroviral LTRs as promoters for human genes: a critical assessmentCarla J Cohen
Terry Fox Laboratory, British Columbia Cancer Agency, 675 West 10th Avenue, Vancouver, BC, Canada V5Z1L3
Gene 448:105-14. 2009..TEs) in gene regulation and, indeed, laboratory investigations have confirmed many specific examples of mammalian genes regulated by promoters donated by endogenous retroviruses (ERVs) or other TEs...
- Coexpression analysis of human genes across many microarray data setsHomin K Lee
Columbia Genome Center, Columbia University, New York, New York 10032, USA
Genome Res 14:1085-94. 2004..We sought pairs of genes that were reliably coexpressed (based on the correlation of their expression profiles) in multiple data sets, ..
- ENDEAVOUR update: a web resource for gene prioritization in multiple speciesLeon Charles Tranchevent
Department of Electrical Engineering ESAT SCD, Katholieke Universiteit Leuven, Belgium
Nucleic Acids Res 36:W377-84. 2008..and open to all users and there is no login requirement) is a web resource for the prioritization of candidate genes. Using a training set of genes known to be involved in a biological process of interest, our approach consists of (..
- Time to give up on a single explanation for autismFrancesca Happe
Francesca Happé, Angelica Ronald and Robert Plomin are at the Institute of Psychiatry, Kings College London, De Crispigny Park, London SE5 8AF, UK
Nat Neurosci 9:1218-20. 2006..Twin data suggest largely nonoverlapping genes acting on each of these traits...
- A high-density association screen of 155 ion transport genes for involvement with common migraineDale R Nyholt
Genetic Epidemiology Laboratory, Queensland Institute of Medical Research, PO Royal Brisbane Hospital, Brisbane4029, Queensland, Australia
Hum Mol Genet 17:3318-31. 2008..between monogenic Familial Hemiplegic Migraine (FHM) and common migraine subtypes, and the fact that all three FHM genes are involved in the transport of ions, suggest that ion transport genes may underlie susceptibility to common ..
- Stress-related differential expression of multiple beta-carotene ketolase genes in the unicellular green alga Haematococcus pluvialisJun-Chao Huang
Department of Botany, The University of Hong Kong, Pokfulam Road, Hong Kong, PR China
J Biotechnol 122:176-85. 2006..Here we report the identification and expression of three different beta-carotene ketolase genes (bkt) that are involved in the biosynthesis of astaxanthin in a single strain of the alga...
- Confirmed rare copy number variants implicate novel genes in schizophreniaGloria W C Tam
Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK
Biochem Soc Trans 38:445-51. 2010..Identification of sets of genes underlying human mental disorders is a path towards this objective...
- Bioinformatic identification and characterization of human endothelial cell-restricted genesManoj Bhasin
Division of Interdisciplinary Medicine and Biotechnology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA 02215, USA
BMC Genomics 11:342. 2010In this study, we used a systematic bioinformatics analysis approach to elucidate genes that exhibit an endothelial cell (EC) restricted expression pattern, and began to define their regulation, tissue distribution, and potential ..
- Functional genomic identification of genes required for male gonadal differentiation in Caenorhabditis elegansAndrea K Kalis
Masonic Cancer Center, University of Minnesota, Minneapolis, Minnesota 55455, USA
Genetics 185:523-35. 2010..To identify genes involved in this process, we performed a genome-wide RNAi screen using sex-specifically expressed gonadal GFP ..
- Assessing the functional coherence of gene sets with metrics based on the Gene Ontology graphAdam J Richards
Department of Biochemistry and Molecular Biology, Medical University of South Carolina, Charleston, SC 29425, USA
Bioinformatics 26:i79-87. 2010..Instead of testing for significance of individual terms, this study is concerned with the task of assessing the global functional coherence of gene sets, for which novel metrics and statistical methods have been devised...
- Natural products version 2.0: connecting genes to moleculesChristopher T Walsh
Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, 240 Longwood Avenue, Boston, Massachusetts 02115, USA
J Am Chem Soc 132:2469-93. 2010..In this Perspective, we explore how connecting Nature's small molecules to the genes that encode them has sparked a renaissance in natural product research, focusing primarily on the biosynthesis of ..
- Obese and diabetes: two mutant genes causing diabetes-obesity syndromes in miceD L Coleman
Diabetologia 14:141-8. 1978
- Annotating genes and genomes with DNA sequences extracted from biomedical articlesMaximilian Haeussler
Faculty of Life Sciences, University of Manchester, Manchester, UK
Bioinformatics 27:980-6. 2011..Existing text-mining approaches focus on finding gene names or identifiers in English text. These are often not unique and do not identify the exact genomic location of a study...
- Expression of the zebrafish CD133/prominin1 genes in cellular proliferation zones in the embryonic central nervous system and sensory organsMaura McGrail
Department of Genetics, Development and Cell Biology, Iowa State University, Ames, Iowa 50011, USA
Dev Dyn 239:1849-57. 2010..The expression patterns of the zebrafish prominin1a and b genes were analyzed during embryogenesis using whole mount in situ hybridization...
- AUGUSTUS: ab initio prediction of alternative transcriptsMario Stanke
Institut fur Mikrobiologie und Genetik, Abteilung Bioinformatik, Goldschmidtstrasse 1, 37077 Gottingen, Germany
Nucleic Acids Res 34:W435-9. 2006..where user-defined regular expressions can be searched against putative proteins encoded by the predicted genes. The AUGUSTUS web interface and the downloadable open-source stand-alone program are freely available from http://..
- Phytophthora genome sequences uncover evolutionary origins and mechanisms of pathogenesisBrett M Tyler
Virginia Bioinformatics Institute, Virginia Polytechnic Institute and State University, Blacksburg, VA 24061, USA
Science 313:1261-6. 2006..share the kingdom Stramenopila with photosynthetic algae such as diatoms, and the presence of many Phytophthora genes of probable phototroph origin supports a photosynthetic ancestry for the stramenopiles...
- WAF1, a potential mediator of p53 tumor suppressionW S El-Deiry
Oncology Center, Johns Hopkins University School of Medicine, Baltimore, Maryland 21231
Cell 75:817-25. 1993The ability of p53 to activate transcription from specific sequences suggests that genes induced by p53 may mediate its biological role as a tumor suppressor...
- CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1Y Kawaguchi
Department of Pharmacology, Kyoto University Faculty of Medicine, Japan
Nat Genet 8:221-8. 1994..Southern blot analyses and genomic cloning demonstrates the existence of related genes. These results raise the possibility that similar abnormalities in related genes may give rise to diseases similar ..
- Haploid genetic screens in human cells identify host factors used by pathogensJan E Carette
Whitehead Institute for Biomedical Research, 9 Cambridge Center, Cambridge, MA 02142, USA
Science 326:1231-5. 2009..Using this approach, we identified host factors essential for infection with influenza and genes encoding important elements of the biosynthetic pathway of diphthamide, which are required for the cytotoxic ..
- Functional analysis of peroxisome-proliferator-responsive element motifs in genes of fatty acid-binding proteinsChristian Schachtrup
Department of Biochemistry, , Wilhelm-Klemm-Str. 2, , Germany
Biochem J 382:239-45. 2004..In the same way, C2C12 myoblasts transfected with promoter fragments of E-FABP and H-FABP genes containing putative PPREs are also not activated through stimulation of PPARs with bezafibrate applied to the ..
- High-performance gene name normalization with GeNoJoachim Wermter
Jena University Language and Information Engineering Lab, Friedrich Schiller Universitat Jena, Fürstengraben 30, 07743 Jena, Germany
Bioinformatics 25:815-21. 2009..Their recognition and normalization remains a challenging task because of widespread gene name ambiguities within species, across species, with common English words and with medical sublanguage terms...
- Preferential regulation of duplicated genes by microRNAs in mammalsJingjing Li
Department of Molecular Genetics, University of Toronto, 1 King s College Circle, Toronto, ON, M5S 1A8, Canada
Genome Biol 9:R132. 2008..Specifically, while mammalian paralogs are known to overcome their initial complete functional redundancy through variation in regulation and expression, the potential involvement of microRNAs in this process has not been investigated...
- Balancing selection is the main force shaping the evolution of innate immunity genesAnna Ferrer-Admetlla
Departament de Ciencies Experimentals i de la Salut, Universitat Pompeu Fabra, Unitat de Biologia Evolutiva, Barcelona, Catalonia, Spain
J Immunol 181:1315-22. 2008..Potentially lethal pathogens are likely to have exerted important selective pressures on our genome, so immunity genes can be expected to show molecular signatures of the adaptation of human populations to these recent conditions...
- WEGO: a web tool for plotting GO annotationsJia Ye
James D. Watson Institute of Genome Sciences of Zhejiang University, Hangzhou 310008, China
Nucleic Acids Res 34:W293-7. 2006..genomics.org.cn. There are two available mirror sites at http://wego2.genomics.org.cn and http://wego.genomics.com.cn. Any suggestions are welcome at ...
- The male-specific region of the human Y chromosome is a mosaic of discrete sequence classesHelen Skaletsky
Howard Hughes Medical Institute, Whitehead Institute, and Department of Biology, Massachusetts Institute of Technology, 9 Cambridge Center, Cambridge, Massachusetts 02142, USA
Nature 423:825-37. 2003..These classes contain all 156 known transcription units, which include 78 protein-coding genes that collectively encode 27 distinct proteins. The X-transposed sequences exhibit 99% identity to the X chromosome...
- Perspective on genes and mutations causing retinitis pigmentosaStephen P Daiger
Department of Ophthalmology and Visual Science, School of Medicine, The University of Texas Health Science Center, Houston, TX 77030, USA
Arch Ophthalmol 125:151-8. 2007Exceptional progress has been made during the past two decades in identifying genes causing inherited retinal diseases such as retinitis pigmentosa...
- GeneMark: web software for gene finding in prokaryotes, eukaryotes and virusesJohn Besemer
School of Biology, Georgia Institute of Technology, Atlanta, GA 30332, USA
Nucleic Acids Res 33:W451-4. 2005..In addition, genes in prokaryotic sequences from novel genomes can be identified using models derived on the spot upon sequence ..
- Differential expression of multiple fork head related genes during gastrulation and axial pattern formation in the mouse embryoH Sasaki
Department of Cell Biology, Vanderbilt University Medical School, Nashville, Tennessee 37232
Development 118:47-59. 1993Four genes encoding fork-head-domain-containing proteins (FD genes) have been isolated from a mouse 8.5 days post coitum (p.c.) embryo cDNA library. Two are mouse homologues of rat HNF-3 beta and HNF-3 alpha...
- Natural selection on genes that underlie human disease susceptibilityRan Blekhman
Department of Human Genetics, University of Chicago, Chicago, IL 60637, USA
Curr Biol 18:883-9. 2008What evolutionary forces shape genes that contribute to the risk of human disease? Do similar selective pressures act on alleles that underlie simple versus complex disorders [1-3]? Answers to these questions will shed light onto the ..
- Background selection in single genes may explain patterns of codon biasLaurence Loewe
Institute of Evolutionary Biology, School of Biological Sciences, University of Edinburgh, Edinburgh EH9 3JT, United Kingdom
Genetics 175:1381-93. 2007..Here we focus on the level of a single gene or small group of genes and investigate how the effects of background selection caused by nonsynonymous mutations are influenced by the ..
- The locus of evolution: evo devo and the genetics of adaptationHopi E Hoekstra
Department of Organismic and Evolutionary Biology and The Museum of Comparative Zoology, Harvard University, 26 Oxford Street, Cambridge, Massachusetts 02138, USA
Evolution 61:995-1016. 2007..affecting morphology are more likely to occur in the cis-regulatory regions than in the protein-coding regions of genes. This argument rests on two claims: (1) the modular nature of cis-regulatory elements largely frees them from ..
- Improved detection of overrepresentation of Gene-Ontology annotations with parent child analysisSteffen Grossmann
Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195 Berlin, Germany
Bioinformatics 23:3024-31. 2007MOTIVATION: High-throughput experiments such as microarray hybridizations often yield long lists of genes found to share a certain characteristic such as differential expression...
- TO-GO: a Java-based Gene Ontology navigation environmentUngsik Yu
National Genome Information Center, KRIBB, Oun 52, Yusong, Daejeon 305 333, Korea
Bioinformatics 21:3580-1. 2005..A copy/paste function is also implemented in order to facilitate data exchange between applications...
- High-throughput behavioral screens: the first step towards finding genes involved in vertebrate brain function using zebrafishRobert Gerlai
Department of Psychology, University of Toronto Mississauga, Rm 3035, Ontario, Canada
Molecules 15:2609-22. 2010..This review does not present experimental examples for the identification of particular genes or drugs...
- Is a new and general theory of molecular systematics emerging?Scott V Edwards
Museum of Comparative Zoology and Department of Organismic and Evolutionary Biology, Harvard University, Cambridge, Massachusetts 02138, USA
Evolution 63:1-19. 2009..trees that allow gene tree heterogeneity and whose tips represent lineages, populations and species, as opposed to genes-represent an exciting confluence of phylogenetics, phylogeography, and population genetics, and ushers in a new ..
- GeneTUKit: a software for document-level gene normalizationMinlie Huang
Department of Computer Science and Technology, Tsinghua University, Beijing, China
Bioinformatics 27:1032-3. 2011..Manual annotation for this task is cost expensive, time consuming and labor intensive. Therefore, providing assistive tools to facilitate the task is of high value...
- cDNA cloning and characterization of the human THRAP2 gene which maps to chromosome 12q24, and its mouse ortholog Thrap2Luciana Musante
Max Planck Institute for Molecular Genetics, Ihnestrasse 73, D 14195 Berlin, Germany
Gene 332:119-27. 2004..By northern blot analysis, human and mouse THRAP2/Thrap2 genes showed ubiquitous expression. Transcripts were most abundant in human skeletal muscle and in mouse heart...
- RINX(VSX1), a novel homeobox gene expressed in the inner nuclear layer of the adult retinaT Hayashi
Department of Medicine, University of Washington, Seattle, Washington 98195, USA
Genomics 67:128-39. 2000The locus control region (LCR) of the human red and green visual pigment genes is critical for the formation of functional red and green cones in the retina...
- Molecular cloning and characterization of rat karyopherin alpha 1 gene: structure and expressionBingwei Wang
Key Laboratory of Proteomics, Institute of Biochemistry and Cell Biology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai 200031, China
Gene 331:149-57. 2004..Our results suggest involvement of KPNA1 in the striatal responses to denervation following 6-hydroxydopamine (6-OHDA)-induced lesion...
- Cloning and functional characterization of the murine mastermind-like 1 (Maml1) geneLizi Wu
Department of Medical Oncology, Mayer 540, Dana Farber Cancer Institute, Brigham and Women s Hospital and Harvard Medical School, 44 Binney Street, Boston, MA 02115, USA
Gene 328:153-65. 2004..There seems to be close correlation of the spatial and temporal expression among Maml1, Notch1 and Hes1 in the central nervous system (CNS) during early development, implicating a role for the Maml1 gene in neurogenesis...
- Cloning, expression pattern and essentiality of the high-affinity copper transporter 1 (ctr1) gene in zebrafishNatalia C Mackenzie
Millennium Nucleus in Developmental Biology, Departamento de Biologia, Facultad de Ciencias Universidad de Chile, Casilla 653 Santiago, Chile
Gene 328:113-20. 2004..that it consists of five exons and that exon-intron boundaries are absolutely conserved with the mammalian ctr1 genes. Expression in embryos was analyzed by reverse transcription-polymerase chain reaction (RT-PCR) and by in situ ..
- Cloning and expression analysis of two novel PCTAIRE 3 transcripts from human brainA Z Herskovits
Albert Einstein College of Medicine, Departments of Neuroscience and Pathology, F526, 1300 Morris Park Ave, Bronx, NY 10461, USA
Gene 328:59-67. 2004....
- Isolation and characterization of murine Cds (CDP-diacylglycerol synthase) 1 and 2Suzanne L Inglis-Broadgate
Institute of Ophthalmology, University College London, 11 43 Bath Street, London, EC1V 9EL, UK
Gene 356:19-31. 2005..We report here the isolation and characterization of two murine genes encoding this enzyme, Cds1 and Cds2...
- Molecular cloning, expression, and sequence analysis of GPRC6A, a novel family C G-protein-coupled receptorPetrine Wellendorph
Department of Medicinal Chemistry, The Danish University of Pharmaceutical Sciences, 2 Universitetsparken, DK 2100 Copenhagen, Denmark
Gene 335:37-46. 2004..Analysis of the intron-exon composition of the GPRC6A gene confirms that isoforms 2 and 3 are naturally occurring splice variants...
- Identification of a differential gene HUMMLC2B between F1 hybrids Landrace x Yorkshire and their female parents YorkshireD Q Xu
Agriculture Ministry Key Laboratory of Swine Genetics and Breeding, College of Animal Science, Huazhong Agricultural University, Wuhan 430070, China
Gene 352:118-26. 2005..RT-PCR analysis showed a tissue-specific pattern of expression in skeletal muscle and a similar level of expression during skeletal muscle development. The possible role of HUMMLC2B and its relation to porcine heterosis are discussed...
- Molecular characterization and chromosomal assignment of the bovine glycinamide ribonucleotide formyltransferase (GART) gene on cattle chromosome 1q12.1-q12.2Anne Wohlke
Institute for Animal Breeding and Genetics, University of Veterinary Medicine Hannover, Bünteweg 17 p, 30559 Hannover, Germany
Gene 348:73-81. 2005The mammalian glycinamide ribonucleotide formyltransferase (GART) genes encode a trifunctional polypeptide involved in the de novo purine biosynthesis...
- Molecular cloning and characterization of a novel human BTB domain-containing gene, BTBD10, which is down-regulated in gliomaJuxiang Chen
Department of Neurosurgery, Changzheng Hospital, Second Military Medical University, Shanghai 200003, People s Republic of China
Gene 340:61-9. 2004..All these data suggested that BTBD10 might play a role in glioma...
- Isolation and molecular characterization of the porcine stearoyl-CoA desaturase geneJun Ren
Institute of Veterinary Medicine, Georg August University of Gottingen, Groner Landstrasse 2, Gottingen 37073, Germany
Gene 340:19-30. 2004..Reverse transcription (RT)-PCR result indicates that the SCD gene is expressed ubiquitously in pigs...
- Functional characterisation and genomic analysis of an epithelial calcium channel (ECaC) from pufferfish, Fugu rubripesAndong Qiu
School of Health and Life Sciences, King s College London, Division of Life Sciences, Franklin Wilkins Building, 150 Stamford Street, London SE1 9NN, United Kingdom
Gene 342:113-23. 2004..Thus, the two mammalian ECaC genes may originate from a single ancestral ECaC2 gene in vertebrates appearing early in evolution.
- cDNA cloning, genomic structure, chromosomal mapping, and expression analysis of parotid secretory protein in pigHai Fang Yin
State Key Laboratory for Agrobiotechnology, China Agricultural University, Beijing, People s Republic of China
Genomics 83:9-18. 2004..We observed a unique amino acid sequence pattern consisting of the residues Leu-X(6)-Leu-X(6)-Leu-X(7)-Leu-X(6)-Leu-X(6)-Leu near the amino-terminal portion of the protein, which is similar to the leucine zipper...
- Two distinct teleost hepatocyte nuclear factor 1 genes, hnf1alpha/tcf1 and hnf1beta/tcf2, abundantly expressed in liver, pancreas, gut and kidney of zebrafishHong Yi Gong
Graduate Institute of Life Sciences, National Defense Medical Center, Taipei, Taiwan
Gene 338:35-46. 2004..Both hnf1 genes were shown to be expressed abundantly in liver, pancreas, gut and kidney...
- Cloning, genomic organization, alternative splicing and expression analysis of the human gene WNK3 (PRKWNK3)Simon Holden
Department of Medical Genetics, Cambridge Institute for Medical Research, Addenbrooke s Hospital Box 139, Hills Road, Cambridge, CB2 2XY, UK
Gene 335:109-19. 2004..WNK3 lies within the critical linkage interval for several human monogenic disorders, including X-linked mental retardation. The function of mammalian WNK3 kinase remains to be investigated...
- Characterization of isoforms and genomic organization of mouse calumeninDai Hyun Jung
Department of Life Science, Kwangju Institute of Science and Technology, 1 Oryong dong, Puk Gu, Gwangju, 500 712, South Korea
Gene 327:185-94. 2004..and data mining of mouse genome database were utilized to examine the exon-intron boundaries of mouse calumenin genes. Both mouse calumenin 1 and 2 genes encompass six exons, and five of them (Exon1, 3, 4, 5 and 6) are identical...
- Genomic organization and expression of the doublesex-related gene cluster in vertebrates and detection of putative regulatory regions for DMRT1B Brunner
Max Planck Institute for Molecular Genetics, Berlin, Germany
Genomics 77:8-17. 2001b>Genes related to the Drosophila melanogaster doublesex and Caenorhabditis elegans mab-3 genes are conserved in human. They are identified by a DNA-binding homology motif, the DM domain, and constitute a gene family (DMRTs)...
- Genomic organization and chromosomal localization of the mouse IKBKAP geneR Coli
Department of Biological Sciences, Laboratory for Familial Dysautonomia Research, Fordham University, Bronx, NY 10458, USA
Gene 279:81-9. 2001..The mouse and human IKBKAP genes exhibit significant conservation of their genomic organization and the intron 20 donor splice site sequence, ..
- Molecular characterization of NSD1, a human homologue of the mouse Nsd1 geneN Kurotaki
Department of Human Genetics, Nagasaki University School of Medicine, Sakamoto 1 12 4, Nagasaki 852 8523, Japan
Gene 279:197-204. 2001..It remains to be investigated whether mutations of NSD1 lead to a specific phenotype in man...
- Isolation of a murine copper transporter gene, tissue specific expression and functional complementation of a yeast copper transport mutantJ Lee
Department of Biological Chemistry, The University of Michigan Medical School, 48109 0606, Ann Arbor, MI, USA
Gene 254:87-96. 2000..changed in response to cellular Cu availability, which is distinct from the highly Cu-regulated transcription of genes encoding yeast high affinity Cu transporters...
- The mouse Edr2 (Mph2) gene has two forms of mRNA encoding 90- and 36-kDa polypeptidesMakoto Yamaki
Department of Molecular Embryology, Graduate School of Medicine, Chiba University, 1 8 1 Inohana, Chuo Ku, Japan
Gene 288:103-10. 2002The vertebrate Polycomb Group (PcG) genes encode proteins that form large multimeric and chromatin-associated complexes implicated in the stable repression of developmentally essential genes. Here we have isolated a 2...
- Molecular characterization of the equine AEG1 locusAlexander Giese
Institute of Animal Breeding and Genetics, School of Veterinary Medicine Hannover, Bunteweg 17p, 30559 Hannover, Germany
Gene 292:65-72. 2002..Therefore, their genes are of interest as candidate genes for inherited male fertility dysfunctions and as putative quantitative trait ..
- Orthologues of the Caenorhabditis elegans longevity gene clk-1 in mouse and humanS Asaumi
Department of Molecular Genetics, Tokyo Metropolitan Institute of Gerontology, 35 2 Sakae cho, Itabashi ku, Tokyo, 173 0015, Japan
Genomics 58:293-301. 1999..cerevisiae Coq7p/Cat5p, which is required for the biosynthesis of ubiquinone and the derepression of gluconeogenic genes. In the present study, we isolated and characterized human and mouse orthologues of the COQ7/CLK-1 gene...
- The WFDC1 gene encoding ps20 localizes to 16q24, a region of LOH in multiple cancersM Larsen
Cell and Molecular Biology Program, Baylor College of Medicine, Houston, Texas 77030, USA
Mamm Genome 11:767-73. 2000..Both the mouse and human WFDC1 genes consist of seven exons and encode respective ps20 proteins sharing 79...
- Identification, genomic organization and mRNA expression of CRELD1, the founding member of a unique family of matricellular proteinsPaul A Rupp
Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR 97201, USA
Gene 293:47-57. 2002..The CRELD1 gene is deleted in the human cytogenetic disorder 3p- syndrome and is in the region of loss of heterozygosity for several types of cancer. A potential role for this protein in these disorders is discussed...
- Cloning of rat thymic stromal lymphopoietin receptor (TSLPR) and characterization of genomic structure of murine Tslpr geneBlagoy Blagoev
Protein Interaction Laboratory, Center for Experimental Bioinformatics, University of Southern Denmark, Campusvej 55, M, DK 5230, Odense, Denmark
Gene 284:161-8. 2002..Finally, using linkage analysis, we mapped the murine Tslpr gene to mouse chromosome 5 between the Ecm2 and Pxn genes.
- Human EMR2, a novel EGF-TM7 molecule on chromosome 19p13.1, is closely related to CD97H H Lin
Sir William Dunn School of Pathology, University of Oxford, South Parks Road, Oxford, OX1 3RE, United Kingdom
Genomics 67:188-200. 2000..and CD97 exhibit highly homologous EGF-like domains and share identical gene organization, indicating that both genes are the products of a recent gene duplication event...
- Cloning and characterization of a human novel gene C9orf19 encoding a conserved putative protein with an SCP-like extracellular protein domainIris Eisenberg
Molecular Biology Unit, Hadassah Hospital, The Hebrew University Hadassah Medical School, Mount Scopus, Jerusalem, Israel
Gene 293:141-8. 2002..Parallel to this study, the gene termed GNE, approximately 50 kb centromeric to C9orf19, was shown to be the disease causing gene in IBM2...
- Cloning, chromosome mapping and functional characterization of a human homologue of murine gtse-1 (B99) geneM Monte
Laboratorio Nazionale Consorzio Interuniversitario per le Biotecnologie LNCIB, Area Science Park, Padriciano 99, 34012, Trieste, Italy
Gene 254:229-36. 2000..Chromosome mapping of mouse and human genes assigned Gtse-1 to chromosome 15 and GTSE-1 to chromosome 22q13.2-q13...
- Mouse Atp6f, the gene encoding the 23-kDa proteolipid of vacuolar proton translocating ATPaseG H Sun-Wada
Division of Biological Sciences, Institute of Scientific and Industrial Research, Osaka University, Mihogaoka 8 1, Ibaraki, Osaka 567 0047, Japan
Gene 274:93-9. 2001..The epitope-tagged 23-kDa protoelipid was localized in endomembrane organelles in CHO cells, as expected for a component of a vacuolar-type proton pump...
- Structure, chromosomal localization, and expression of the gene for mouse ecto-mono(ADP-ribosyl)transferase ART5G Glowacki
Institute for Immunology, University Hospital, Martinistrasse 52, 20246 Hamburg, Germany
Gene 275:267-77. 2001..6 cM in close proximity to the Art1, Art2a and Art2b genes. Northern blot and RT-PCR analyses demonstrate prominent expression of Art5 in testis, and lower levels in cardiac ..
- Cloning, mapping, and characterization of a human homologue of the yeast longevity assurance gene LAG1H Pan
State Key Laboratory of Genetic Engineering, Institute of Genetics, School of Life Science, Fudan University, Shanghai 200433, China
Genomics 77:58-64. 2001..Furthermore, LASS2 protein was able to inhibit the colony formation of human hepatoma cells in vitro, which suggests that this gene may be involved in the regulation of cell growth...
- Genomic organization and chromosomal localization of the Asna1 gene, a mouse homologue of a bacterial arsenic-translocating ATPase geneH Bhattacharjee
Department of Biochemistry and Molecular Biology, Wayne State University School of Medicine, 540 East Canfield Avenue, Detroit, MI 48201, USA
Gene 272:291-9. 2001..All splice sites conform to the GT-AG rule, except for the splice donor site of intron 4 that is GC instead of GT. Fluorescence in situ hybridization indicates that the Asna1 gene is localized in the C3-D1 region of mouse chromosome 8...
- Exon-intron organization and chromosomal localization of the mouse monoglyceride lipase geneM Karlsson
Department of Cell and Molecular Biology, BMC, C11, Lund University, S 221 84 Lund, Sweden
Gene 272:11-8. 2001..The amino acid sequence derived from human MGL cDNA clones showed 84% identity with mouse MGL. The mouse MGL gene was mapped to chromosome 6 in a region with known homology to human chromosome 3q21...
- Isolation and characterization of a novel gene from the DiGeorge chromosomal region that encodes for a mediator subunitL Berti
Department of Protein Biochemistry, Institute of Molecular Immunology GSF, Munich, 81377, Germany
Genomics 74:320-32. 2001..Together with the observed haploinsufficiency of PCQAP in DGS/VCFS patients, this finding is consistent with a possible role for this novel Mediator subunit in the development of some of the structures affected in DGS/VCFS...
- A novel human amino acid transporter, hNAT3: cDNA cloning, chromosomal mapping, genomic structure, expression, and functional characterizationS Gu
Department of Biochemistry, University of Texas Health Science Center, 7703 Floyd Curl Drive, San Antonio, Texas 78229 3900, USA
Genomics 74:262-72. 2001..The data obtained in this study are likely to offer critical clues for identification of amino acid transporter-associated diseases...
- Mouse fatty acid transport protein 4 (FATP4): characterization of the gene and functional assessment as a very long chain acyl-CoA synthetaseT Herrmann
Department of Internal Medicine IV, University of Heidelberg, Bergheimer Strasse 58, 69115, Heidelberg, Germany
Gene 270:31-40. 2001....
- Myosin-VIIb, a novel unconventional myosin, is a constituent of microvilli in transporting epitheliaZ Y Chen
Department of Neurology, Howard Hughes Medical Institute, Boston, Massachusetts 02114, USA
Genomics 72:285-96. 2001..An antibody to myosin-VIIb labeled proximal tubule cells of the kidney and enterocytes of the intestine, specifically the distal tips of apical microvilli on these transporting epithelial cells...
- Impact of Antibiotics and Vaccines on the in vivo Evolution of S. pneumoniaeGarth Ehrlich; Fiscal Year: 2009..if coats (what the vaccine is directed against) or whether these escape strains are truly they possess most of the genes of the clonal lineages that have just hidden in new outer fundamentally alters their cell surface which could ..
- Fibrotic Sequelae of Childhood Renal DiseaseAgnes Fogo; Fiscal Year: 2007..Apart from the genes responsible for the manifestation of cyst formation per se, the loss of renal function in PKD is determined by ..
- Development of CNS-targeted AAV vectorsMiguel Esteves; Fiscal Year: 2009..AAV capsid library with a diversity of 5x109 clones generated by DNA shuffling of AAV1, 2, 5, 8, 9, and rh10 Cap genes, to identify new brain- and spinal cord-tropic AAV capsids after intravenous or ICV delivery in adult animals...
- Development of CNS-targeted AAV vectorsMIGUEL S ESTEVES; Fiscal Year: 2010..AAV capsid library with a diversity of 5x109 clones generated by DNA shuffling of AAV1, 2, 5, 8, 9, and rh10 Cap genes, to identify new brain- and spinal cord-tropic AAV capsids after intravenous or ICV delivery in adult animals...
- DNA methylation in aging, race and prostate cancerRajvir Dahiya; Fiscal Year: 2006..Specific hypotheses: 1) The DNA methylation status of most frequently deleted genes [ERs, E-cadherin, CD44 and GSTPI (glutathione S-transferase pi)] will be different in aging and race-related ..
- BIOLOGY OF EARLY RENAL CYSTOGENESIS IN THE CPK MOUSELisa Guay Woodford; Fiscal Year: 2003..cystic disease in both humans and mouse models involves a multigenic pathway in which the disease-susceptibility genes act by cellular recessive mechanisms...
- Colitis Induced by immune responses to luminal bacteria-mouseRYAN BALFOUR SARTOR; Fiscal Year: 2010..4 genes associated with Crohn's disease (NOD 2, ATG 16L1, NCF4, IGRM) regulate bacterial killing, suggesting that ..
- CELL CYCLE REGULATION OF THE YEAST HO GENELINDA BREEDEN; Fiscal Year: 2001A large number of yeast genes, including several of the cyclins, are required for the transition between G1 and S. These genes are transcribed at two different times...
- RpoS-mediated virulence regulation in Borrelia burgdorferiJON SCOTT BLEVINS; Fiscal Year: 2010..The optimal experimental approach to identify genes that respond to a particular regulator would be to expose the bacteria to the specific condition(s) that activate ..
- Cohort Study of Genetic Susceptibility to Cutaneous Malignant MelanomaJiali Han; Fiscal Year: 2009..a critical role in protecting against melanoma; however, epidemiologic data are limited due to a limited number of genes and polymorphisms examined in initial studies with small sample sizes...
- Cohort Study of Genetic Susceptibility to Cutaneous Malignant MelanomaJiali Han; Fiscal Year: 2009..a critical role in protecting against melanoma; however, epidemiologic data are limited due to a limited number of genes and polymorphisms examined in initial studies with small sample sizes...
- Cohort Study of Genetic Susceptibility to Cutaneous Malignant MelanomaJiali Han; Fiscal Year: 2010..a critical role in protecting against melanoma;however, epidemiologic data are limited due to a limited number of genes and polymorphisms examined in initial studies with small sample sizes...
- Genetic control of limb development by PbxLicia Selleri; Fiscal Year: 2010..While the fly has only one TALE-encoding gene, Exd, the mouse has four Pbx genes (Pbx1-4)...
- Novel genomic effects of Y-linked polymorphismsDaniel L Hartl; Fiscal Year: 2010..is polymorphic for sequences that differentially affect the expression of many hundreds of autosomal and X-linked genes. The quantitative effects of different Y chromosome on gene expression are termed YRV (Y-linked regulatory ..
- Molecular Pathphysiology of FSHD muscular dystrophy via genome-wide approachesYi Wen Chen; Fiscal Year: 2009..The shortening of the D4Z4 array is believed to have a de-repression effect on genes in or near the D4Z4 region...
- Role of Genes in Exceptional Longevity in HumansNir Barzilai; Fiscal Year: 2007..The long-term goal of this Program is to identify genes that contribute to exceptional longevity in humans, and to assess the associations among these genes with age-..
- Insulin Clearance: Candidate and Positional Genetic DeterminantsMARK GOODARZI; Fiscal Year: 2010..Insulin clearance is a highly heritable trait. Preliminary data show that haplotypes in the genes for adenosine monophosphate deaminase (AMPD1 and AMPD2) and the AMP-activated protein kinase (AMPK) 12 subunit are ..
- Insulin Clearance: Candidate and Positional Genetic DeterminantsMARK GOODARZI; Fiscal Year: 2009..Insulin clearance is a highly heritable trait. Preliminary data show that haplotypes in the genes for adenosine monophosphate deaminase (AMPD1 and AMPD2) and the AMP-activated protein kinase (AMPK) 12 subunit are ..
- Disparities in cervical cancer precursors and deregulation of imprinted genesSusan Kay Murphy; Fiscal Year: 2010..We posit that deregulation of genomically imprinted genes, a group of approximately 50 known growth-regulatory genes where only one allele is normally active, may predict ..
- MOLECULAR GENETICS OF NUCLEOLAR DOMINANCECRAIG STUART PIKAARD; Fiscal Year: 2010..phenomenon that occurs in plant and animal genetic hybrids and describes the transcription of ribosomal RNA (rRNA) genes inherited from only one parent due to the selective silencing of the other progenitor's rRNA genes...
- MAPPING AND CLONING TRANSLOCATION BREAKPOINTSJanet Rowley; Fiscal Year: 2004..breakpoints in recurring chromosome rearrangements, and this has been the major tool leading to identification of genes critically involved in leukemia and lymphoma...
- Ion Channel Function in Auditory & Vestibular hair cellsJeffrey Holt; Fiscal Year: 2009..The overall goal is to identify the genes and proteins in sensory hair cells that are responsible for the generation and propagation of sensory information ..