Research Topics
Genomes and Genes
| Neal G CopelandSummaryAffiliation: National Cancer Institute Country: USA Publications
| Collaborators
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Detail Information
Publications
A highly efficient Escherichia coli-based chromosome engineering system adapted for recombinogenic targeting and subcloning of BAC DNAE C Lee
Mouse Cancer Genetics Program, National Cancer Institute Frederick, Frederick, Maryland 21702, USA
Genomics 73:56-65. 2001....- A comprehensive SNP-based genetic analysis of inbred mouse strainsShirley Tsang
Laboratory of Molecular Technology, SAIC-Frederick, Inc, National Cancer Institute at Frederick, 915 Tollhouse Avenue, Suite 211, Frederick, Maryland 21701, USA
Mamm Genome 16:476-80. 2005.... - Genomics. Mmu 16--comparative genomic highlightsNeal G Copeland
Mouse Cancer Genetics Program, National Cancer Institute, Frederick, MD, 21702, USA
Science 296:1617-8. 2002 - Recombineering: a powerful new tool for mouse functional genomicsN G Copeland
Mouse Cancer Genetic Program, Center for Cancer Research, National Cancer Institute at Frederick, Frederick, Maryland 21702, USA
Nat Rev Genet 2:769-79. 2001.... 
Cooperating cancer-gene identification through oncogenic-retrovirus-induced insertional mutagenesisYang Du
Mouse Cancer Genetics Program, National Cancer Institute, Center for Cancer Research, Frederick, MD, USA
Blood 106:2498-505. 2005..Insertional mutagenesis of cooperating cancer genes by a defective oncogenic retrovirus provides a new method for identifying cooperating cancer genes and could aid in the development of better therapies for treating cancer...- Early B-cell factor-associated zinc-finger gene is a frequent target of retroviral integration in murine B-cell lymphomasSøren Warming
Mouse Cancer Genetics Program, National Cancer Institute, Center for Cancer Research, West 7th Street at Fort Detrick, Frederick, MD 21702, USA
Oncogene 23:2727-31. 2004..Collectively, our results suggest that ectopic expression of Ebfaz can substitute for the upregulated expression of Evi3 in B-cell disease and highlight the importance of this gene family in hematopoietic cancer... - A highly efficient recombineering-based method for generating conditional knockout mutationsPentao Liu
Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, Frederick, Maryland 21702, USA
Genome Res 13:476-84. 2003..This method should also facilitate the generation of knock-in mutations and transgene constructs, as well as expedite the analysis of regulatory elements and functional domains in or near genes... - Insertional mutagenesis identifies genes that promote the immortalization of primary bone marrow progenitor cellsYang Du
Mouse Cancer Genetics Program, National Cancer Institute, Center for Cancer Research, Frederick, MD 21702, USA
Blood 106:3932-9. 2005..Genes identified by insertional mutagenesis by their nature could also be involved in immortalization of leukemic stem cells, and thus represent attractive drug targets for treating cancer... - RTCGD: retroviral tagged cancer gene databaseKeiko Akagi
Mouse Cancer Genetics Program, National Cancer Institute, Frederick, MD 21701, USA
Nucleic Acids Res 32:D523-7. 2004..Researchers can identify integrations of interest and compare their results with those for multiple tumor models and tumor types using RTCGD... - Mammalian mutagenesis using a highly mobile somatic Sleeping Beauty transposon systemAdam J Dupuy
National Cancer Institute, Center for Cancer Research, Frederick, Maryland 21702, USA
Nature 436:221-6. 2005..The uses of SB are also not restricted to the mouse and could potentially be used for forward genetic screens in any higher eukaryote in which transgenesis is possible... - Sox4 cooperates with Evi1 in AKXD-23 myeloid tumors via transactivation of proviral LTRKathryn E Boyd
Mouse Cancer Genetics Program, National Cancer Institute, Frederick, MD, USA
Blood 107:733-41. 2006.... - Bcl11a is essential for normal lymphoid developmentPentao Liu
Mouse Cancer Genetics Program, National Cancer Institute Frederick, Maryland 21702, USA
Nat Immunol 4:525-32. 2003..Mice transplanted with Bcl11a-deficient cells died from T cell leukemia derived from the host. Thus, Bcl11a may also function as a non-autonomous T cell tumor suppressor gene... - Zfp423 is required for normal cerebellar developmentSøren Warming
Mouse Cancer Genetics Program, National Cancer Institute, 1050 Boyles Street, Frederick, MD 21702, USA
Mol Cell Biol 26:6913-22. 2006..In mice carrying a hypomorphic Zfp423 gene trap allele, lacZ expression in the cerebellum correlates with the Purkinje cell layer, suggesting that these phenotypes are a result of a Purkinje cell-intrinsic defect... - Evi3, a common retroviral integration site in murine B-cell lymphoma, encodes an EBFAZ-related Krüppel-like zinc finger proteinSoren Warming
Mouse Cancer Genetics Program and the Basic Research Laboratory, National Cancer Institute, Frederick, MD 21702, USA
Blood 101:1934-40. 2003..Furthermore, our results suggest that EVI3, not EBFAZ, is the member of this protein family that interacts with and regulates EBF in B cells... - An efficient recombination system for chromosome engineering in Escherichia coliD Yu
Gene Regulation and Chromosome Biology Laboratory and Mouse Cancer Genetics Program, National Cancer Institute, Division of Basic Science, National Cancer Institute Frederick Cancer Research and Development Center, Frederick, MD 21702, USA
Proc Natl Acad Sci U S A 97:5978-83. 2000..This system will be especially useful for the engineering of large bacterial plasmids such as those from bacterial artificial chromosome libraries... - Gene therapy insertional mutagenesis insightsUTPAL P DAVE
Mouse Cancer Genetics Program, National Cancer Institute, Center for Cancer Research, Frederick, MD 21702, USA
Science 303:333. 2004 - Itch genetically interacts with Notch1 in a mouse autoimmune disease modelLydia E Matesic
Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, Frederick, MD 21702, USA
Hum Mol Genet 15:3485-97. 2006.... - Simple and highly efficient BAC recombineering using galK selectionSøren Warming
Mouse Cancer Genetics Program, National Cancer Institute Frederick, MD 21702 1201, USA
Nucleic Acids Res 33:e36. 2005.... - Stat5 synergizes with T cell receptor/antigen stimulation in the development of lymphoblastic lymphomaJohn A Kelly
Laboratory of Molecular Immunology, National Heart and Blood Institute, National Cancer Institute, Bethesda, MD 20892 1674, USA
J Exp Med 198:79-89. 2003..These data demonstrate the oncogenic potential of dysregulated expression of a STAT protein that is not constitutively activated, and that TCR stimulation can contribute to this process... - Sleeping beauty: a novel cancer gene discovery toolAdam J Dupuy
Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, Frederick, MD 21702, USA
Hum Mol Genet 15:R75-9. 2006..SB transposition in animal models of cancer could therefore greatly facilitate the identification of novel human cancer genes and the development of better cancer therapies... - Hematopoietic, angiogenic and eye defects in Meis1 mutant animalsTomoyuki Hisa
Center for Cancer Research, Mouse Cancer Genetics Program, National Cancer Institute, Frederick, MD, USA
EMBO J 23:450-9. 2004..These and other studies showing that Meis1 is expressed at high levels in hematopoietic stem cells (HSCs) suggest that Meis1 may also be required for the proliferation/self-renewal of the HSC... - Sox4 cooperates with PU.1 haploinsufficiency in murine myeloid leukemiaGeorg Aue
National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA
Blood 118:4674-81. 2011..1 expression. Our results establish a novel cooperation between Sox4 and reduced Sfpi1 expression in myeloid leukemia development and suggest that SOX4 could be an important new therapeutic target in human acute myeloid leukemia... - Common sites of retroviral integration in mouse hematopoietic tumors identified by high-throughput, single nucleotide polymorphism-based mapping and bacterial artificial chromosome hybridizationHaifa Shen
Mouse Cancer Genetics Program, National Cancer Institute-Frederick, Maryland 21702, USA
J Virol 77:1584-8. 2003..This mapping method is applicable to many different species, including ones where few genetic markers and little genomic sequence information are available. It can also be used to map endogenous proviruses... - The interferon-inducible p200 family of proteins: a perspective on their roles in cell cycle regulation and differentiationBenyam Asefa
Laboratory of Molecular Immunoregulation, National Cancer Institute at Frederick, Frederick, MD 21702 1201, USA
Blood Cells Mol Dis 32:155-67. 2004..Here, we describe the structure and biological activities of these proteins, and discuss recent studies that describe their relevant roles in processes regulating cell proliferation and differentiation... - The RNA-binding motif protein 15B (RBM15B/OTT3) acts as cofactor of the nuclear export receptor NXF1Hiroaki Uranishi
Human Retrovirus Section, Center for Cancer Research, NCI, National Institutes of Health, Frederick, Maryland 21702 1201, USA
J Biol Chem 284:26106-16. 2009.... - Visualization and identification of IL-7 producing cells in reporter miceRenata I Mazzucchelli
Laboratory of Molecular Immunoregulation, Cancer and Inflammation Program, Center for Cancer Research, National Cancer Institute, NIH, Frederick, MD, USA
PLoS ONE 4:e7637. 2009..Central memory CD8 T cells, which require IL-7 and home to bone marrow, physically associated with IL-7-producing cells as we demonstrate by intravital imaging... - Efficient Cre-loxP-induced mitotic recombination in mouse embryonic stem cellsPentao Liu
Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute at Frederick, Frederick, Maryland 21702, USA
Nat Genet 30:66-72. 2002..Our studies also show that genetic mosaic analysis in mice is feasible, at least for certain chromosomal regions... - Evi-2, a common integration site involved in murine myeloid leukemogenesisA M Buchberg
Mammalian Genetics Laboratory, NCI Frederick Cancer Research and Development Center, Frederick, Maryland 21702
Mol Cell Biol 10:4658-66. 1990..Interestingly, the human homolog of Evi-2 has recently been shown to be tightly linked to the von Recklinghausen neurofibromatosis locus, suggesting a role for Evi-2 in human disease as well... - Synaptic defects in ataxia mice result from a mutation in Usp14, encoding a ubiquitin-specific proteaseScott M Wilson
Mouse Cancer Genetics Program, National Cancer Institute Frederick, Frederick, Maryland 21702, USA
Nat Genet 32:420-5. 2002..Instead, ax(J) mice have defects in synaptic transmission in both the central and peripheral nervous systems. These results suggest that ubiquitin proteases are important in regulating synaptic activity in mammals... - dsu functions in a MYO5A-independent pathway to suppress the coat color of dilute miceT Norene O'Sullivan
Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, Frederick, MD 21702, USA
Proc Natl Acad Sci U S A 101:16831-6. 2004..Therefore, dsu identifies a unique protein involved in pigmentation of the mammalian hair... - New genes involved in cancer identified by retroviral taggingTakeshi Suzuki
Mouse Cancer Genetics Program, National Cancer Institute, Frederick, Maryland 21702, USA
Nat Genet 32:166-74. 2002..Our studies demonstrate the power of retroviral tagging for cancer gene discovery in the post-genome era and indicate a largely unrecognized complexity in mouse and presumably human cancer... - Identification of a common ecotropic viral integration site, Evi-1, in the DNA of AKXD murine myeloid tumorsM L Mucenski
Mammalian Genetics Laboratory, National Cancer Institute, Frederick, Maryland 21701
Mol Cell Biol 8:301-8. 1988..In contrast, few Evi-1 rearrangements were detected in the DNA of T- or B-cell tumors. Evi-1 may thus identify a new proto-oncogene locus that is involved in myeloid disease... - The bHLH-Zip transcription factor Tfeb is essential for placental vascularizationE Steingrimsson
Mammalian Genetics Laboratory and Neural Development Group, ABL Basic Research Program, NCI Frederick Cancer Research and Development Center, Frederick, MD 21702 1201, USA
Development 125:4607-16. 1998..Our results indicate that Tfeb plays a critical role in the signal transduction processes required for normal vascularization of the placenta... - Cooperative activation of Hoxa and Pbx1-related genes in murine myeloid leukaemiasT Nakamura
Mammalian Genetics Laboratory, NCI Frederick Cancer Research and Development Center, Maryland 21702, USA
Nat Genet 12:149-53. 1996..These studies provide the first genetic evidence that Pbx1-related genes cooperate with Hox genes in leukaemia formation and identify a number of new murine myeloid leukaemia genes... - Sequence, chromosomal location and expression analysis of the murine homologue of human RAD51L2/RAD51CC S Leasure
Mouse Cancer Genetics Program, National Cancer Institute at Frederick, P O Box B, Frederick, MD 21702, USA
Gene 271:59-67. 2001..The murine Rad51l2 gene maps to chromosome 11 and is located in the syntenic region of human chromosome 17q22-23, where the human RAD51L2 is present... - The semidominant Mi(b) mutation identifies a role for the HLH domain in DNA binding in addition to its role in protein dimerizationE Steingrimsson
Mammalian Genetics Laboratory, ABL Basic Research Program, NCI Frederick Cancer Research and Development Center, National Cancer Institute, Frederick, MD 21702 1201, USA
EMBO J 15:6280-9. 1996..The Mi(b) mutation therefore appears to dissociate a DNA recognition function of the HLH domain from its role in protein dimerization... - Erythroid Krüppel-like transcription factor (Eklf) maps to a region of mouse chromosome 8 syntenic with human chromosome 19N A Jenkins
Mammalian Genetics Laboratory, NCI-Frederick Cancer Research and Development Center, Maryland 21702, USA
Mamm Genome 9:174-6. 1998 - Cloning, expression, and chromosomal localization of the mouse gene (Scgb3a1, alias Ugrp2) that encodes a member of the novel uteroglobin-related protein gene familyT Niimi
Laboratory of Metabolism, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA
Cytogenet Genome Res 97:120-7. 2002..These regions are known to be homologous. Interspecific mouse backcross mapping was also performed to obtain further detailed localization of mouse Ugrp1 and Ugrp2... - Mapping of murine fibroblast growth factor receptors refines regions of homology between mouse and human chromosomesK B Avraham
Mammalian Genetics Laboratory, National Cancer Institute Frederick Cancer Research and Development Center, Frederick, Maryland 21702
Genomics 21:656-8. 1994..The Fgfr loci map to previously defined regions of homology between human and mouse chromosomes and provide additional information regarding human/mouse comparative mapping... - Mutations in Cdh23 cause nonsyndromic hearing loss in waltzer miceS M Wilson
Mouse Cancer Genetics Program, National Cancer Institute Frederick, Frederick, Maryland 21702, USA
Genomics 74:228-33. 2001..Finally, mutations in human CDH23 have recently been described for two loci, DFNB12 and USH1D, which cause nonsyndromic deafness, identifying waltzer as a mouse model for human hearing loss... - The neurobeachin gene (Nbea) identifies a new region of homology between mouse central chromosome 3 and human chromosome 13q13D J Gilbert
Mammalian Genetics Laboratory, ABL-Basic Research Program, NCI-Frederick Cancer Research and Development Center, Frederick, Maryland 21702, USA
Mamm Genome 10:1030-1. 1999 - Exon structure of the nuclear factor I DNA-binding domain from C. elegans to mammalsC F Fletcher
Mammalian Genetics Laboratory, ABL Basic Research Program, NCI Frederick Cancer Research and Development Center, Frederick, Maryland 21702, USA
Mamm Genome 10:390-6. 1999..elegans-like ancestral gene, but that significant changes have occurred in the genomic organization of either the C. elegans or murine NFI genes during evolution... - Isolation and characterization of a bovine neural specific protein (CRMP-2) cDNA homologous to unc-33, a C. elegans gene implicated in axonal outgrowth and guidanceT Kamata
SAIC Frederick, IRSP, National Cancer Institute NCI FCRDC, Frederick, MD 21702, USA
Brain Res Mol Brain Res 54:219-36. 1998..Taken together, these data suggest multi-functional roles for CRMP-2 in developing and adult nervous systems, and the biological activity of CRMP-2 could be regulated by phosphorylation reaction... - cDNA cloning, expression analysis, and chromosomal localization of a gene with high homology to wheat eIF-(iso)4F and mammalian eIF-4GJ D Shaughnessy
Mammalian Genetics Laboratory, NCI Frederick Cancer Research and Development Center, Maryland 21702, USA
Genomics 39:192-7. 1997..Southern blot analysis of DNA from interspecific backcross mice shows that Eif4g2 is localized to distal mouse chromosome 7 in a region syntenic with human chromosome 11p15... - A transgenic mouse assay for agouti protein activityW L Perry
Mammalian Genetics Laboratory, NCI Frederick Cancer Research and Development Center, Maryland 21702, USA
Genetics 140:267-74. 1995..Thus, in vitro mutagenesis followed by the generation of transgenic mice should allow us to identify important functional elements of the agouti protein... - Absence epilepsy in tottering mutant mice is associated with calcium channel defectsC F Fletcher
Mammalian Genetics Laboratory, NCI Frederick Cancer Research and Development Center, Frederick, Maryland 21702, USA
Cell 87:607-17. 1996..These studies define the first mutations in a mammalian central nervous system-specific voltage-sensitive calcium channel and identify the first gene involved in absence epilepsy... - Mapping of the mouse Bcl6 gene to chromosome 16X Liao
Mammalian Genetics Laboratory, ABL-Basic Research Program, NCI-Frederick Cancer Research and Development Center, Frederick, Maryland 21702, USA
Mamm Genome 7:621-2. 1996 - Characterization and mapping of three new mammalian ATP-binding transporter genes from an EST databaseR Allikmets
Laboratory of Viral Carcinogenesis, National Cancer Institute, Frederick Cancer Research and Development Center, Maryland 21702 1201, USA
Mamm Genome 6:114-7. 1995..Some drawbacks of using EST databases, including chimerism of cDNA clones, are discussed... - Good genes in bad neighbourhoodsM A Bedell
Mammalian Genetics Laboratory, ABL-Basic Research Program, NCI-Frederick Cancer Research and Development Center, Frederick, Maryland 21702-1201, USA
Nat Genet 12:229-32. 1996 - Fusion of the nucleoporin gene NUP98 to HOXA9 by the chromosome translocation t(7;11)(p15;p15) in human myeloid leukaemiaT Nakamura
Mammalian Genetics Laboratory, NCI Frederick Cancer Research and Development Center, Maryland 21702, USA
Nat Genet 12:154-8. 1996.... - Molecular basis of mouse microphthalmia (mi) mutations helps explain their developmental and phenotypic consequencesE Steingrimsson
Mammalian Genetics Laboratory, ABL Basic Research Program, NCI Frederick Cancer Research and Development Center, Frederick, Maryland 21702
Nat Genet 8:256-63. 1994..These molecular data, combined with the extensive body of genetic data accumulated for murine mi, shed light on the phenotypic and developmental consequences of mi mutations and offer a mouse model for WS2... - Cloning of the murine Drm gene (Cktsf1b1) and characterization of its oncogene suppressible promoterQ Zhang
Basic Research Laboratory, National Cancer Institute, Frederick, MD, USA
Cytogenet Cell Genet 89:242-51. 2000..Our results indicate that the expression of Cktsf1b1, a gene associated with early development and cell transformation, is sensitive to MKK levels and may be regulated via multiple transcription factor complexes... - The status of voltage-dependent calcium channels in alpha 1E knock-out miceS M Wilson
Mouse Cancer Genetics Program, National Cancer Institute Frederick Cancer Research and Development Center, Frederick, Maryland 21702, USA
J Neurosci 20:8566-71. 2000..We conclude that there exists a component of the R current that results from the expression of the alpha(1E) Ca channel subunit but that the majority of R currents must result from the expression of other Ca channel alpha subunits... - Nidogen/entactin (Nid) maps to the proximal end of mouse chromosome 13 linked to beige (bg) and identifies a new region of homology between mouse and human chromosomesN A Jenkins
ABL-Basic Research Program, NCI-Frederick Cancer Research and Development Center, Frederick, Maryland 21702
Genomics 9:401-3. 1991 - Evi-5, a common site of retroviral integration in AKXD T-cell lymphomas, maps near Gfi-1 on mouse chromosome 5X Liao
Mammalian Genetics Laboratory, ABL Basic Research Program, NCI Frederick Cancer Research and Development Center, Maryland 21702, USA
J Virol 69:7132-7. 1995..These results are consistent with the hypothesis that T-cell lymphomagenesis is a multistep disease and that viral integration at Evi-5 or Gfi-1 is causally associated with this disease process... - Chromosomal organization and transcriptional regulation of human GEM and localization of the human and mouse GEM loci encoding an inducible Ras-like proteinT Santoro
Laboratory of Pathology, National Cancer Institute, Bethesda, Maryland 20892, USA
Genomics 30:558-64. 1995..To gain insight into the transcriptional regulation of GEM, we have established the transcriptional initiation site of GEM in human T cells and defined a 5' upstream region sufficient for mitogen-responsive, inducible transcription... - Mapping of the mouse homolog of the human runt domain gene, AML2, to the distal region of mouse chromosome 4K B Avraham
Mammalian Genetics Laboratory, National Cancer Institute-Frederick Cancer Research and Development Center, Maryland 21702, USA
Genomics 25:603-5. 1995 - Autosomal telomere exchange results in the rapid amplification and dispersion of Csf2ra genes in wild-derived miceC I Brannan
Mouse Cancer Genetics Program, National Cancer Institute Frederick, Frederick, Maryland 21702, USA
Mamm Genome 12:882-6. 2001..Although we do not know whether these additional Csf2ra genes are functionally active, our studies suggest that subtelomeric exchange provides a potent means for rapid gene amplification in the mouse... - Retroviral integration at the Evi-2 locus in BXH-2 myeloid leukemia cell lines disrupts Nf1 expression without changes in steady-state Ras-GTP levelsD A Largaespada
Mammalian Genetics Laboratory, NCI Frederick Cancer Research and Development Center, Maryland 21702, USA
J Virol 69:5095-102. 1995..These data suggest that neurofibromin is not the sole mediator of Ras-GAP activity in myeloid cells and may have a GAP-independent function in myeloid cells... - The mouse Snell's waltzer deafness gene encodes an unconventional myosin required for structural integrity of inner ear hair cellsK B Avraham
Mammalian Genetics Laboratory, NCI Frederick Cancer Research and Development Center, Maryland 21702, USA
Nat Genet 11:369-75. 1995..The requirement for myosin VI in hearing makes this gene an excellent candidate for a human deafness disorder... - Dystonia and cerebellar atrophy in Cacna1a null mice lacking P/Q calcium channel activityC F Fletcher
Mouse Cancer Genetics Program, National Cancer Institute-FCRDC, Frederick, Maryland 21702, USA
FASEB J 15:1288-90. 2001 - Region-specific saturation germline mutagenesis in mice using the Sleeping Beauty transposon systemVincent W Keng
Center for Advanced Science and Innovation, Osaka University, 2 1 Yamadaoka, Suita, Osaka 565 0871, Japan
Nat Methods 2:763-9. 2005..All genes within a 4-Mb region of the original donor site were mutated by SB, indicating the potential of this system for functional genomic studies within a specific chromosomal region... - Melanocytes and the microphthalmia transcription factor networkEirikur Steingrimsson
Department of Biochemistry and Molecular Biology, University of Iceland, 101 Reykjavik, Iceland
Annu Rev Genet 38:365-411. 2004.... 
The E3 ligase Itch negatively regulates inflammatory signaling pathways by controlling the function of the ubiquitin-editing enzyme A20Noula Shembade
Department of Microbiology and Immunology, Sylvester Comprehensive Cancer Center, The University of Miami, Miller School of Medicine, Miami, Florida 33136, USA
Nat Immunol 9:254-62. 2008..Thus, our studies show a previously unappreciated complexity of A20 substrate recognition and inactivation whereby TAX1BP1 and Itch function as essential subunits of an A20 ubiquitin-editing complex...- Jxc1/Sobp, encoding a nuclear zinc finger protein, is critical for cochlear growth, cell fate, and patterning of the organ of cortiZheng Chen
Sections on Neurogenetics, Laboratory of Molecular Biology, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Maryland 20850, USA
J Neurosci 28:6633-41. 2008..Collectively, our data support a role for Jxc1 in controlling a critical step in cochlear growth, cell fate, and patterning of the organ of Corti... - A mutant ataxin-3 fragment results from processing at a site N-terminal to amino acid 190 in brain of Machado-Joseph disease-like transgenic miceVeronica F Colomer Gould
Department of Psychiatry, Johns Hopkins University School of Medicine, 600 N Wolfe Street, Meyer Research Building, Room 4 158, Baltimore, MD 21287, USA
Neurobiol Dis 27:362-9. 2007..Our results support the toxic fragment hypothesis and narrow the mutant ataxin-3 cleavage site to the N-terminus of amino acid 190... - Mouse coat color mutations: from fancy mice to functional genomicsEirikur Steingrimsson
Department of Biochemistry and Molecular Biology, University of Iceland, Reykjavik, Iceland
Dev Dyn 235:2401-11. 2006..The usefulness of coat color mutations has just begun to emerge... - Correction of X-linked chronic granulomatous disease by gene therapy, augmented by insertional activation of MDS1-EVI1, PRDM16 or SETBP1Marion G Ott
Department of Hematology Oncology, University Hospital, German Cancer Research Center, Theodor Stern Kai 7, 60590 Frankfurt, Germany
Nat Med 12:401-9. 2006.... - Progressive phenotype and nuclear accumulation of an amino-terminal cleavage fragment in a transgenic mouse model with inducible expression of full-length mutant huntingtinYuji Tanaka
Division of Neurobiology, Department of Psychiatry, Johns Hopkins University School of Medicine, CMSC 8 121, 600 North Wolfe Street, Baltimore, MD 21287, USA
Neurobiol Dis 21:381-91. 2006..The data suggest that proteolytic processing could be a part of the pathogenesis of HD, potentially representing an attractive therapeutic target... - BHLHB4 is a bHLH transcriptional regulator in pancreas and brain that marks the dimesencephalic boundaryDebra E Bramblett
Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, Texas 77030, USA
Genomics 79:402-12. 2002..Together, these data suggest that BHLHB4 may modulate the expression of genes required for the differentiation and/or maintenance of pancreatic and neuronal cell types... - Evolution of the regulators of G-protein signaling multigene family in mouse and humanDavid A Sierra
Pharmacology Department, UT Southwestern, Dallas, Texas 75390-9041, USA
Genomics 79:177-85. 2002..We propose that similar systematic analyses of all multigene families from human and other mammalian genomes will help complete the assembly and annotation of the human genome sequence... - Significant differences between mouse and human trophinins are revealed by their expression patterns and targeted disruption of mouse trophinin geneDaita Nadano
Glycobiology Program, The Burnham Institute, La Jolla, California 92037, USA
Biol Reprod 66:313-21. 2002..The present study indicates significant differences between mouse and human trophinins in their expression patterns, and it suggests that trophinin is not involved in embryo implantation and placental development in the mouse... - Genome-based identification of cancer genes by proviral tagging in mouse retrovirus-induced T-cell lymphomasRachel Kim
Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, New York 10461, USA
J Virol 77:2056-62. 2003..They also provide strong genetic evidence that overexpression of unmutated Rras2 contributes to tumorigenesis, thus suggesting that it may also do so if it is inappropriately expressed in human tumors... - Isolation and characterization of the mouse ubiquitin-specific protease Usp15Corinne Angelats
Division of Molecular Medicine, John Curtin School of Medical Research, Australian National University, GPO Box 334, Canberra, ACT 2601, Australia
Mamm Genome 14:31-46. 2003..Phylogenetic studies suggest that a sequence currently identified as a chicken Usp4 ortholog is in fact a USP15 ortholog, while bona-fide chicken, cow, and rat Usp4 orthologs can be identified in EST databases... - Genome-wide single-nucleotide polymorphism analysis defines haplotype patterns in mouseTim Wiltshire
Genomics Institute of the Novartis Research Foundation, San Diego, CA 92121, USA
Proc Natl Acad Sci U S A 100:3380-5. 2003..These analyses define blocks of high or low diversity, often extending across tens of megabases that are delineated by abrupt transitions. These observations provide a striking contrast to the haplotype structure of the human genome... - Murine NFX.1: isolation and characterization of its messenger RNA, mapping of its chromosomal location and assessment of its developmental expressionPaola Arlotta
The Schepens Eye Research Institute, Harvard Medical School, Boston, Massachusetts, USA
Immunology 106:173-81. 2002..Expression profiling shows that m-NFX.1 is expressed ubiquitously in both adult tissues and during development, supporting the hypothesis that it may have yet-undescribed roles in distinct biological processes... - Nuclear-targeting of mutant huntingtin fragments produces Huntington's disease-like phenotypes in transgenic miceGabriele Schilling
Department of Pathology, The Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
Hum Mol Genet 13:1599-610. 2004..These data suggest that disruption of nuclear processes may account for many of the disease phenotypes displayed in the mouse models generated by expressing mutant N-terminal fragments of htt... - A mutant ataxin-3 putative-cleavage fragment in brains of Machado-Joseph disease patients and transgenic mice is cytotoxic above a critical concentrationDaniel Goti
Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA
J Neurosci 24:10266-79. 2004.... - Molecular cloning of mouse collectin liver 1Takao Kawai
Division of Food Microbiology, Osaka Prefectural Institute of Public Health, 1 3 69 Nakamichi, Higashinari ku, Osaka 537 0025, Japan
Biosci Biotechnol Biochem 66:2134-45. 2002..The mouse CL-L1 gene, Cll1 was found on chromosome 15 in a region syntenic with human chromosome 8q. CL-L1 was a highly conserved protein in mammals, birds, and fish... - Melanocyte stem cell maintenance and hair grayingEirikur Steingrimsson
Department of Biochemistry and Molecular Biology, Faculty of Medicine, University of Iceland, Vatnsmyrarvegur 16, 101 Reykjavik, Iceland
Cell 121:9-12. 2005.... - Comparative genetics and evolution of annexin A13 as the founder gene of vertebrate annexinsJuan Manuel Iglesias
Department of Biochemistry and Molecular Biology, Edificio Santiago Gaston, University of Oviedo, E 33006 Oviedo, Spain
Mol Biol Evol 19:608-18. 2002....