Genomes and Genes
Experts and Doctors on base sequence in Philadelphia, Pennsylvania, United States
Locale: Philadelphia, Pennsylvania, United States
Topic: base sequence
Publications393 found, 100 shown here
- Ohta M, Inoue H, Cotticelli M, Kastury K, Baffa R, Palazzo J, et al. The FHIT gene, spanning the chromosome 3p14.2 fragile site and renal carcinoma-associated t(3;8) breakpoint, is abnormal in digestive tract cancers. Cell. 1996;84:587-97 pubmed..Aberrant transcripts of the FHIT locus were found in approximately 50% of esophageal, stomach, and colon carcinomas. ..
- Cheung P, Xu H, McLaughlin M, Ghazaleh F, Livi G, Colman R. Human platelet cGI-PDE: expression in yeast and localization of the catalytic domain by deletion mutagenesis. Blood. 1996;88:1321-9 pubmed..All mutant proteins were expressed as determined by Western blot analysis. These findings localize the PDE3A catalytic domain to within amino acid residues 679 to 1141. ..
- Kang A, Wong P, Chen H, Castagna R, Chung S, Sultzer B. Restoration of lipopolysaccharide-mediated B-cell response after expression of a cDNA encoding a GTP-binding protein. Infect Immun. 1996;64:4612-7 pubmed..Thus a GTP-binding protein may be involved in LPS stimulation in B cells and perhaps other cell types. ..
- Aho S, Buisson M, Pajunen T, Ryoo Y, Giot J, Gruffat H, et al. Ubinuclein, a novel nuclear protein interacting with cellular and viral transcription factors. J Cell Biol. 2000;148:1165-76 pubmed..3 and in a syntenic region in mouse chromosome 16. We designated this novel ubiquitously expressed nuclear protein as ubinuclein and the corresponding gene as UBN1. ..
- Jensen L, Muzio M, Mantovani A, Whitehead A. IL-1 signaling cascade in liver cells and the involvement of a soluble form of the IL-1 receptor accessory protein. J Immunol. 2000;164:5277-86 pubmed..This suggests that sIL-1RAcP may act as an inhibitor of IL-1 by directly interacting with IL-1RI to abolish its capacity to transduce signal. ..
- Shu W, Yang H, Zhang L, Lu M, Morrisey E. Characterization of a new subfamily of winged-helix/forkhead (Fox) genes that are expressed in the lung and act as transcriptional repressors. J Biol Chem. 2001;276:27488-97 pubmed..Together, these studies suggest that Foxp1 and Foxp2 are important regulators of lung epithelial gene transcription. ..
- Yu J, Russell J. Structural and functional analysis of an mRNP complex that mediates the high stability of human beta-globin mRNA. Mol Cell Biol. 2001;21:5879-88 pubmed..In combination, the in vitro and in vivo analyses indicate that the high stabilities of the alpha- and beta-globin mRNAs are maintained through related mRNP complexes that may share a common regulatory pathway. ..
- Lipman R, Wang J, Sowers K, Hou Y. Prevention of mis-aminoacylation of a dual-specificity aminoacyl-tRNA synthetase. J Mol Biol. 2002;315:943-9 pubmed..Prevention of mis-placement by alteration of the core structure or by nucleotide modifications in the tRNA illustrates a novel strategy of the dual-specificity synthetase. ..
- Wang L, Liu X, Lenox R. Transcriptional regulation of mouse MARCKS promoter in immortalized hippocampal cells. Biochem Biophys Res Commun. 2002;292:969-79 pubmed..The discovery of the activator function of the MARCKS distal promoter region, and its potential interaction with multiple Sp proteins may provide a new clue to the understanding of Macs transcriptional regulation in brain. ..
- Das S, Lin J, Papamatheakis J, Sykulev Y, Tsichlis P. Differential splicing generates Tvl-1/RFXANK isoforms with different functions. J Biol Chem. 2002;277:45172-80 pubmed..Since both Tvl-L and Tvl-S are identical in their ability to induce the expression of EphA3, we conclude that Tvl-1 regulates the expression of non-MHC genes by RFX-independent mechanisms. ..
- Park H, Davidson E, King M. The pathogenic A3243G mutation in human mitochondrial tRNALeu(UUR) decreases the efficiency of aminoacylation. Biochemistry. 2003;42:958-64 pubmed..These results also suggest that the A3243G and T3271C mutations may have distinct mechanisms of pathogenesis...
- Lang D, Epstein J. Sox10 and Pax3 physically interact to mediate activation of a conserved c-RET enhancer. Hum Mol Genet. 2003;12:937-45 pubmed..These observations explain the phenotype in the mild form of Yemenite deaf-blind syndrome caused by specific SOX10 mutations in the HMG box that abrogate DNA binding without disrupting association with Pax3. ..
- Sang N, Fath D, Giordano A. A gene highly expressed in tumor cells encodes novel structure proteins. Oncogene. 2004;23:9438-46 pubmed..These results suggest that NSPs represent a new family of structure proteins with a possible role in nuclear dynamics during cell division, and that NSP5alpha3alpha may serve as a tumor marker. ..
- Yang L, Conway S, Poethig R. Vegetative phase change is mediated by a leaf-derived signal that represses the transcription of miR156. Development. 2011;138:245-9 pubmed publisher..We conclude that vegetative phase change is initiated by a signal(s) produced by leaf primordia, which acts by repressing the transcription of specific members of the miR156 gene family. ..
- Kerr D, Khalili K. A recombinant cDNA derived from human brain encodes a DNA binding protein that stimulates transcription of the human neurotropic virus JCV. J Biol Chem. 1991;266:15876-81 pubmed..Thus, GF1 is a sequence-specific DNA binding protein that may play a role in determining the glial-specific expression of JCV. ..
- Rao V, Huebner K, Isobe M, ar Rushdi A, Croce C, Reddy E. elk, tissue-specific ets-related genes on chromosomes X and 14 near translocation breakpoints. Science. 1989;244:66-70 pubmed..This suggests the possibility that rearrangements of elk loci may be involved in pathogenesis of certain tumors. ..
- Bakhshi M, Myers J, Howard P, Soprano D, Kirby E. Sequencing of the primary adhesion domain of bovine von Willebrand factor. Biochim Biophys Acta. 1992;1132:325-8 pubmed..Both the nucleotide sequence and the deduced amino acid sequence are 82% homologous to those of human vWF. Cysteine residues #471, 474, 509 and 695, which form intrachain bonds in human vWF, are also present in the bovine vWF sequence. ..
- Murdoch A, Dodge G, Cohen I, Tuan R, Iozzo R. Primary structure of the human heparan sulfate proteoglycan from basement membrane (HSPG2/perlecan). A chimeric molecule with multiple domains homologous to the low density lipoprotein receptor, laminin, neural cell adhesion molecules, and epidermal . J Biol Chem. 1992;267:8544-57 pubmed..Our studies show that this proteoglycan is present in all vascularized tissues and suggest that this unique molecule has evolved from the utilization of modular structures with adhesive and growth regulatory properties. ..
- Hardesty C, Ferran C, DiRienzo J. Plasmid-mediated sucrose metabolism in Escherichia coli: characterization of scrY, the structural gene for a phosphoenolpyruvate-dependent sucrose phosphotransferase system outer membrane porin. J Bacteriol. 1991;173:449-56 pubmed..This increase in sucrose permeability provided strong evidence that the ScrY protein functions as a sucrose porin. There was 23% amino acid sequence identity between the ScrY protein and LamB, a maltose porin from Escherichia coli. ..
- Hsu J, Laz T, Mohn K, Taub R. Identification of LRF-1, a leucine-zipper protein that is rapidly and highly induced in regenerating liver. Proc Natl Acad Sci U S A. 1991;88:3511-5 pubmed..As such, LRF-1 may have a unique and critical role in growth regulation of regenerating liver and mitogen-stimulated cells. ..
- Olmedo G, Ninfa E, Stock J, Youngman P. Novel mutations that alter the regulation of sporulation in Bacillus subtilis. Evidence that phosphorylation of regulatory protein SpoOA controls the initiation of sporulation. J Mol Biol. 1990;215:359-72 pubmed..This property of the mutant protein, together with additional genetic information, supports a model for regulation of sporulation initiation by control of the phosphorylation level of SpoOA. ..
- Tweardy D, Cannizzaro L, Palumbo A, Shane S, Huebner K, VanTuinen P, et al. Molecular cloning and characterization of a cDNA for human granulocyte colony-stimulating factor (G-CSF) from a glioblastoma multiforme cell line and localization of the G-CSF gene to chromosome band 17q21. Oncogene Res. 1987;1:209-20 pubmed..Somatic cell hybridization studies and chromosomal in situ hybridization localized the G-CSF gene to the long arm of chromosome 17 in band 17q21, proximal to the 17q breakpoint characteristic of acute promyelocytic leukemia. ..
- Chang Y, Bosma G, Bosma M. Development of B cells in scid mice with immunoglobulin transgenes: implications for the control of V(D)J recombination. Immunity. 1995;2:607-16 pubmed..This rescue of scid B cell differentiation is associated with a dramatic reduction in expression of the recombination activation genes, RAG1 and RAG2, and with reduced transcription of the kappa locus. ..
- Peng X, Katz M, Gerzanich V, Anand R, Lindstrom J. Human alpha 7 acetylcholine receptor: cloning of the alpha 7 subunit from the SH-SY5Y cell line and determination of pharmacological properties of native receptors and functional alpha 7 homomers expressed in Xenopus oocytes. Mol Pharmacol. 1994;45:546-54 pubmed
- Menkens A, Cashmore A. Isolation and characterization of a fourth Arabidopsis thaliana G-box-binding factor, which has similarities to Fos oncoprotein. Proc Natl Acad Sci U S A. 1994;91:2522-6 pubmed
- Clark C, Cohen I, Eichstetter I, Cannizzaro L, McPherson J, Wasmuth J, et al. Molecular cloning of the human proto-oncogene Wnt-5A and mapping of the gene (WNT5A) to chromosome 3p14-p21. Genomics. 1993;18:249-60 pubmed..Finally, using a combination of Southern blotting, PCR amplification, and in situ hybridization, the human Wnt-5A (WNT5A) gene was mapped to chromosome 3p14-p21. ..
- Matunis M, Matunis E, Dreyfuss G. PUB1: a major yeast poly(A)+ RNA-binding protein. Mol Cell Biol. 1993;13:6114-23 pubmed..PUB1 was found to be nonessential in S. cerevisiae by gene replacement; however, further genetic analysis should reveal important features of this class of RNA-binding proteins. ..
- Naso M, Morgan J, Buchberg A, Siracusa L, Iozzo R. Expression pattern and mapping of the murine versican gene (Cspg2) to chromosome 13. Genomics. 1995;29:297-300 pubmed..Using interspecific backcross analysis, we assigned the versican gene (Cspg2) to mouse chromosome 13, in a region that is syntenic with the long arm of human chromosome 5 where the human CSPG2 gene is located. ..
- Ai Y, Jenkins N, Copeland N, Gilbert D, Bergsma D, Stambolian D. Mouse galactokinase: isolation, characterization, and location on chromosome 11. Genome Res. 1995;5:53-9 pubmed..The availability of the mouse gene provides an opportunity to make a knockout model for galactokinase deficiency. ..
- Serebriiskii I, Estojak J, Sonoda G, Testa J, Golemis E. Association of Krev-1/rap1a with Krit1, a novel ankyrin repeat-containing protein encoded by a gene mapping to 7q21-22. Oncogene. 1997;15:1043-9 pubmed..Intriguingly, the Krit cDNA has been mapped by FISH to chromosome 7q21-22, a region known to be frequently deleted or amplified in multiple forms of cancer. ..
- Krummenacher C, Nicola A, Whitbeck J, Lou H, Hou W, Lambris J, et al. Herpes simplex virus glycoprotein D can bind to poliovirus receptor-related protein 1 or herpesvirus entry mediator, two structurally unrelated mediators of virus entry. J Virol. 1998;72:7064-74 pubmed..Thus, we propose that HSV entry can be mediated by two structurally unrelated gD receptors through related but not identical binding with gD. ..
- Schmutte C, Marinescu R, Sadoff M, Guerrette S, Overhauser J, Fishel R. Human exonuclease I interacts with the mismatch repair protein hMSH2. Cancer Res. 1998;58:4537-42 pubmed..hExoI was found to interact strongly with the human MMR protein hMSH2, suggesting its involvement in the MMR process and/or DNA recombination. ..
- Dallas P, Pacchione S, Wilsker D, Bowrin V, Kobayashi R, Moran E. The human SWI-SNF complex protein p270 is an ARID family member with non-sequence-specific DNA binding activity. Mol Cell Biol. 2000;20:3137-46 pubmed
- Morrisey E, Musco S, Chen M, Lu M, Leiden J, Parmacek M. The gene encoding the mitogen-responsive phosphoprotein Dab2 is differentially regulated by GATA-6 and GATA-4 in the visceral endoderm. J Biol Chem. 2000;275:19949-54 pubmed..Moreover, these data demonstrate that molecular mechanisms have evolved that direct, and distinguish, the functional specificity of GATA family members when they are developmentally coexpressed. ..
- Shewchuk B, Cooke N, Liebhaber S. The human growth hormone locus control region mediates long-distance transcriptional activation independent of nuclear matrix attachment regions. Nucleic Acids Res. 2001;29:3356-61 pubmed..These data point out discordance between sequence-based MAR predictions and in vivo MAR function and predict a novel MAR-independent mechanism for long-distance activation of hGH-N gene expression. ..
- Boudreau F, Rings E, van Wering H, Kim R, Swain G, Krasinski S, et al. Hepatocyte nuclear factor-1 alpha, GATA-4, and caudal related homeodomain protein Cdx2 interact functionally to modulate intestinal gene transcription. Implication for the developmental regulation of the sucrase-isomaltase gene. J Biol Chem. 2002;277:31909-17 pubmed..These findings imply a combinatory role of HNF-1 alpha, Cdx2, and GATA-4 for the time- and position-dependent regulation of SI transcription during development. ..
- Sterner D, Belotserkovskaya R, Berger S. SALSA, a variant of yeast SAGA, contains truncated Spt7, which correlates with activated transcription. Proc Natl Acad Sci U S A. 2002;99:11622-7 pubmed..These data clarify a mechanism by which a transcriptional regulatory complex can switch between positive and negative modulation. ..
- Hunter C, Sun H, Poethig R. The Arabidopsis heterochronic gene ZIPPY is an ARGONAUTE family member. Curr Biol. 2003;13:1734-9 pubmed..In contrast to Arabidopsis ARGONAUTE1, ZIP has no significant role in transgene silencing; its primary function is in the regulation of developmental timing. ..
- Gupta R, Gao N, Gorski R, White P, Hardy O, Rafiq K, et al. Expansion of adult beta-cell mass in response to increased metabolic demand is dependent on HNF-4alpha. Genes Dev. 2007;21:756-69 pubmed..Together, these results indicate that HNF-4alpha is essential for the physiological expansion of adult beta-cell mass in response to increased metabolic demand. ..
- Hsiao A, Toscano K, Zhu J. Post-transcriptional cross-talk between pro- and anti-colonization pili biosynthesis systems in Vibrio cholerae. Mol Microbiol. 2008;67:849-60 pubmed publisher..These findings describe co-ordinated proteolysis as a regulatory mechanism in V. cholerae and illustrate this organism's adaptability in the face of dramatic environmental changes. ..
- Dhingra A, Sulaiman P, Xu Y, Fina M, Veh R, Vardi N. Probing neurochemical structure and function of retinal ON bipolar cells with a transgenic mouse. J Comp Neurol. 2008;510:484-96 pubmed publisher..The channels and modulators found in ON bipolar cells likely shape their light response. Additional uses of the Grm6-GFP mouse are also discussed. ..
- Christiano A, Rosenbaum L, Chung Honet L, Parente M, Woodley D, Pan T, et al. The large non-collagenous domain (NC-1) of type VII collagen is amino-terminal and chimeric. Homology to cartilage matrix protein, the type III domains of fibronectin and the A domains of von Willebrand factor. Hum Mol Genet. 1992;1:475-81 pubmed..These protein domains may confer adhesive properties to NC-1, thereby facilitating the binding of type VII collagen to the lamina densa in the cutaneous basement membrane and the anchoring plaques within the dermis. ..
- Hardy R, Carmack C, Shinton S, Kemp J, Hayakawa K. Resolution and characterization of pro-B and pre-pro-B cell stages in normal mouse bone marrow. J Exp Med. 1991;173:1213-25 pubmed..a. ..
- Albelda S, Muller W, Buck C, Newman P. Molecular and cellular properties of PECAM-1 (endoCAM/CD31): a novel vascular cell-cell adhesion molecule. J Cell Biol. 1991;114:1059-68 pubmed..These results demonstrate that PECAM-1 mediates cell-cell adhesion and support the idea that it may be involved in some of the interactive events taking place during thrombosis, wound healing, and angiogenesis. ..
- Venturelli D, Bittenbender S, Rovera G. Sequence of the murine myeloperoxidase (MPO) gene. Nucleic Acids Res. 1989;17:7987-8 pubmed
- Zhang R, Maksymowych A, Simpson L. Cloning and sequence analysis of a cDNA encoding human syntaxin 1A, a polypeptide essential for exocytosis. Gene. 1995;159:293-4 pubmed..The deduced sequence encodes a 288-amino-acid (aa) protein that presumably plays a critical role in neurotransmitter exocytosis and is 98.0% identical to the aa sequence of rat syntaxin 1A. ..
- Christiano A, Suga Y, Greenspan D, Ogawa H, Uitto J. Premature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosa. J Clin Invest. 1995;95:1328-34 pubmed..Premature termination codons in both alleles of COL7A1 appear to be the underlying cause of severe, recessive dystrophic EB in this family. ..
- Kunapuli S, Fen Mao G, Bastepe M, Liu Chen L, Li S, Cheung P, et al. Cloning and expression of a prostaglandin E receptor EP3 subtype from human erythroleukaemia cells. Biochem J. 1994;298 ( Pt 2):263-7 pubmed..2 nM. Radiolabelled PGE2 could be displaced by prostaglandins in the order PGE2 = PGE1 > iloprost = PGD2. Northern blot analysis revealed that the receptor is also present in human kidney. ..
- Rubin D, Mehta A, Zhu J, Shoham S, Chen X, Wells Q, et al. Genomic structure and sequence analysis of Drosophila melanogaster HSC70 genes. Gene. 1993;128:155-63 pubmed
- Christiano A, Anton Lamprecht I, Amano S, Ebschner U, Burgeson R, Uitto J. Compound heterozygosity for COL7A1 mutations in twins with dystrophic epidermolysis bullosa: a recessive paternal deletion/insertion mutation and a dominant negative maternal glycine substitution result in a severe phenotype. Am J Hum Genet. 1996;58:682-93 pubmed..Thus, the severe RDEB phenotype in the probands results from compound heterozygosity for one glycine substitution and one PTC mutation in COL7A1. ..
- Argeson A, Nelson K, Siracusa L. Molecular basis of the pleiotropic phenotype of mice carrying the hypervariable yellow (Ahvy) mutation at the agouti locus. Genetics. 1996;142:557-67 pubmed..In addition, the data suggest that the variable phenotype of Ahvy offspring is influenced in part by the phenotype of their Ahvy female parent. ..
- Haas N, Grabowski J, Sivitz A, Burch J. Chicken repeat 1 (CR1) elements, which define an ancient family of vertebrate non-LTR retrotransposons, contain two closely spaced open reading frames. Gene. 1997;197:305-9 pubmed..These results suggest that CR1 elements retrotranspose using a "nick and prime" mechanism similar (but not identical) to other families of non-LTR elements. ..
- Mallee J, Atta M, Lorica V, Rim J, Kwon H, Lucente A, et al. The structural organization of the human Na+/myo-inositol cotransporter (SLC5A3) gene and characterization of the promoter. Genomics. 1997;46:459-65 pubmed..It is localized to chromosome 21q22.1. An overexpression of the SLC5A3 gene deserves consideration as a factor in the pathophysiology of Down syndrome. ..
- Bals R, Goldman M, Wilson J. Mouse beta-defensin 1 is a salt-sensitive antimicrobial peptide present in epithelia of the lung and urogenital tract. Infect Immun. 1998;66:1225-32 pubmed..The present study demonstrates that a beta-defensin potentially homologous to human beta-defensin 1 is present in the respiratory system and other mucosal surfaces in mice. ..
- Shaikh T, Gottlieb S, Sellinger B, Chen F, Roe B, Oakey R, et al. Characterization of CDC45L: a gene in the 22q11.2 deletion region expressed during murine and human development. Mamm Genome. 1999;10:322-6 pubmed
- Westhoff C, Schultze A, From A, Wylie D, Silberstein L. Characterization of the mouse Rh blood group gene. Genomics. 1999;57:451-4 pubmed..The mouse RH locus consists of only one gene, which is important for future genetic manipulation and which also indicates that the RH gene duplication seen in humans has occurred since the mammalian radiation. ..
- Wang H, Kazanietz M. Chimaerins, novel non-protein kinase C phorbol ester receptors, associate with Tmp21-I (p23): evidence for a novel anchoring mechanism involving the chimaerin C1 domain. J Biol Chem. 2002;277:4541-50 pubmed..In this setting, Tmp21-I serves as an anchoring protein that determines the intracellular localization of these novel phorbol ester receptors. ..
- Seth M, Thurlow D, Hou Y. Poly(C) synthesis by class I and class II CCA-adding enzymes. Biochemistry. 2002;41:4521-32 pubmed..Additionally, we show that enzymes of both classes exhibit a processing activity that removes nucleotides in the 3' to 5' direction to as far as position 74. ..
- Manevich Y, Sweitzer T, Pak J, Feinstein S, Muzykantov V, Fisher A. 1-Cys peroxiredoxin overexpression protects cells against phospholipid peroxidation-mediated membrane damage. Proc Natl Acad Sci U S A. 2002;99:11599-604 pubmed..Thus, the enzyme can protect cells against oxidant-induced plasma membrane damage, thereby playing an important role in cellular defense against oxidant stress. ..
- Evilia C, Ming X, Dassarma S, Hou Y. Aminoacylation of an unusual tRNA(Cys) from an extreme halophile. RNA. 2003;9:794-801 pubmed..This suggests an adaptation to the highly negatively charged tRNA sugar-phosphate backbone groups that are the key elements of the tertiary core...
- Murray I, Giasson B, Quinn S, Koppaka V, Axelsen P, Ischiropoulos H, et al. Role of alpha-synuclein carboxy-terminus on fibril formation in vitro. Biochemistry. 2003;42:8530-40 pubmed..Thus, the carboxy-terminus of alpha-syn may regulate aggregation of full-length alpha-syn and determine the diameter of alpha-syn filaments. ..
- Zhang Q, Wang H, Marzec M, Raghunath P, Nagasawa T, Wasik M. STAT3- and DNA methyltransferase 1-mediated epigenetic silencing of SHP-1 tyrosine phosphatase tumor suppressor gene in malignant T lymphocytes. Proc Natl Acad Sci U S A. 2005;102:6948-53 pubmed..Reversal of such gene silencing represents an attractive aim for novel anticancer therapies. ..
- Sirsi S, Williams J, Lutz G. Poly(ethylene imine)-poly(ethylene glycol) copolymers facilitate efficient delivery of antisense oligonucleotides to nuclei of mature muscle cells of mdx mice. Hum Gene Ther. 2005;16:1307-17 pubmed..Dose-response analysis indicated saturation of endocytotic uptake of the polyplex. Overall, we conclude that PEG-PEI copolymers represent high-capacity, nontoxic carriers for efficient delivery of AO to nuclei of mature myofibers...
- Gregory R, Chendrimada T, Cooch N, Shiekhattar R. Human RISC couples microRNA biogenesis and posttranscriptional gene silencing. Cell. 2005;123:631-40 pubmed..Importantly, ATP is not required for miRNA processing, RISC assembly, or multiple rounds of target-RNA cleavage. These results define the composition of RISC and demonstrate that miRNA processing and target-RNA cleavage are coupled. ..
- Doyle G, Sheng X, Lin S, Press D, Grice D, Buono R, et al. Identification of five mouse mu-opioid receptor (MOR) gene (Oprm1) splice variants containing a newly identified alternatively spliced exon. Gene. 2007;395:98-107 pubmed..These exon 19-containing splice variants add to the growing complexity of the mouse Oprm1 gene. ..
- McCorkell K, Mancini R, Siprashvili Z, Barnoski B, Iliopoulos D, Siracusa L, et al. Influence of a nonfragile FHIT transgene on murine tumor susceptibility. Cytogenet Genome Res. 2007;118:196-203 pubmed..It is likely that the FHIT transgene is more tightly silenced in female transgenic mice, leading to a lack of protection from tumor induction. ..
- Robinson B, Germano G, Song Y, Abrams J, Scott M, Guariento I, et al. mll ortholog containing functional domains of human MLL is expressed throughout the zebrafish lifespan and in haematopoietic tissues. Br J Haematol. 2011;152:307-21 pubmed publisher..Haematopoietic tissue expression validates using zebrafish for MLL haematopoiesis and leukaemia models. ..
- Ji X, Kong J, Liebhaber S. An RNA-protein complex links enhanced nuclear 3' processing with cytoplasmic mRNA stabilization. EMBO J. 2011;30:2622-33 pubmed publisher..The demonstrated linkage of nuclear processing with cytoplasmic stabilization via a common RNA-protein complex establishes a basis for integration of sequential controls critical to robust and sustained expression of a target mRNA. ..
- Li Q, Berndt A, Guo H, Sundberg J, Uitto J. A novel animal model for pseudoxanthoma elasticum: the KK/HlJ mouse. Am J Pathol. 2012;181:1190-6 pubmed publisher..Collectively, our studies found that the KK/HlJ mouse strain is characterized by ectopic mineralization due to a mutation in the Abcc6 gene and therefore provides a novel model system to study pseudoxanthoma elasticum...
- Cesano A, Hoxie J, Lange B, Nowell P, Bishop J, Santoli D. The severe combined immunodeficient (SCID) mouse as a model for human myeloid leukemias. Oncogene. 1992;7:827-36 pubmed..Overall, these data indicate that the SCID mouse may represent a useful animal model for human myeloid leukemias and for the development of new pharmacological and molecular approaches to therapy. ..
- Bende S, Grafstrom R. The DNA binding properties of the MutL protein isolated from Escherichia coli. Nucleic Acids Res. 1991;19:1549-55 pubmed..The binding of MutL to double stranded DNA was not affected by the pattern of DNA methylation or the presence of a MutHLS-repairable lesion. ..
- Fazio M, Olsen D, Kauh E, Baldwin C, Indik Z, Ornstein Goldstein N, et al. Cloning of full-length elastin cDNAs from a human skin fibroblast recombinant cDNA library: further elucidation of alternative splicing utilizing exon-specific oligonucleotides. J Invest Dermatol. 1988;91:458-64 pubmed..These results demonstrate that there is considerable variability in the processed nucleotide sequence of the elastin mRNAs. These transcripts may code for isoforms of tropoelastin with different biologic properties. ..
- Meeker T, Nagarajan L, ar Rushdi A, Croce C. Cloning and characterization of the human PIM-1 gene: a putative oncogene related to the protein kinases. J Cell Biochem. 1987;35:105-12 pubmed..This initial characterization of PIM-1 will allow us to define its role in normal and malignant hematolymphoid differentiation. ..
- Pulkkinen L, Gerecke D, Christiano A, Wagman D, Burgeson R, Uitto J. Cloning of the beta 3 chain gene (LAMB3) of human laminin 5, a candidate gene in junctional epidermolysis bullosa. Genomics. 1995;25:192-8 pubmed
- Masters B, Quaife C, Erickson J, Kelly E, Froelick G, Zambrowicz B, et al. Metallothionein III is expressed in neurons that sequester zinc in synaptic vesicles. J Neurosci. 1994;14:5844-57 pubmed..These results are discussed in light of the possibility that MT-III may participate in the utilization of zinc as a neuromodulator. ..
- Schechter N, Wang Z, Blacher R, Lessin S, Lazarus G, Rubin H. Determination of the primary structures of human skin chymase and cathepsin G from cutaneous mast cells of urticaria pigmentosa lesions. J Immunol. 1994;152:4062-9 pubmed..These studies provide further evidence that human skin mast cells contain two different chymotrypsin-like proteinases...
- Safrany G, Perry R. Characterization of the mouse gene that encodes the delta/YY1/NF-E1/UCRBP transcription factor. Proc Natl Acad Sci U S A. 1993;90:5559-63 pubmed..Several striking similarities between the delta gene and genes encoding other transcription factors and regulatory proteins are noted and discussed with respect to their possible biological significance. ..
- Rafi M, Luzi P, Zlotogora J, Wenger D. Two different mutations are responsible for Krabbe disease in the Druze and Moslem Arab populations in Israel. Hum Genet. 1996;97:304-8 pubmed
- Kim T, Sundaresh C, Feinstein S, Dodia C, Skach W, Jain M, et al. Identification of a human cDNA clone for lysosomal type Ca2+-independent phospholipase A2 and properties of the expressed protein. J Biol Chem. 1997;272:2542-50 pubmed..These results represent the first molecular cloning of a cDNA for the lysosomal type Ca2+-independent phospholipase A2 group of enzymes. ..
- Kim K, Biade S, Matsumoto Y. Involvement of flap endonuclease 1 in base excision DNA repair. J Biol Chem. 1998;273:8842-8 pubmed..In this pathway, FEN1 was functional without PCNA and replication factor C but required the DNA synthesis, which led to a flap structure formation. ..
- Gaudenz K, Roessler E, Quaderi N, Franco B, Feldman G, Gasser D, et al. Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain. Am J Hum Genet. 1998;63:703-10 pubmed..These data suggest that this conserved domain of the B-box proteins may play a fundamental role in the pathogenesis of Opitz syndrome and in morphogenetic events at the midline during blastogenesis. ..
- Megonigal M, Cheung N, Rappaport E, Nowell P, Wilson R, Jones D, et al. Detection of leukemia-associated MLL-GAS7 translocation early during chemotherapy with DNA topoisomerase II inhibitors. Proc Natl Acad Sci U S A. 2000;97:2814-9 pubmed..Although MLL has many partner genes and most have not been characterized, panhandle PCR strategies afford new means for detecting MLL gene translocations early during therapy when the partner gene is unknown. ..
- Yu J, Li Y, Ishizuka T, Guenther M, Lazar M. A SANT motif in the SMRT corepressor interprets the histone code and promotes histone deacetylation. EMBO J. 2003;22:3403-10 pubmed..This implies that the SMRT HID participates in interpreting the histone code in a feed-forward mechanism that promotes and maintains histone deacetylation at genomic sites of SMRT recruitment. ..
- Mazina O, Mazin A. Human Rad54 protein stimulates DNA strand exchange activity of hRad51 protein in the presence of Ca2+. J Biol Chem. 2004;279:52042-51 pubmed..The results obtained indicate that hRad54 protein serves as a dsDNA gateway for the hRad51-ssDNA filament, promoting binding and an ATP hydrolysis-dependent translocation of dsDNA during the search for homologous sequences. ..
- Jensen L, Whitehead A. The 3' untranslated region of the membrane-bound IL-1R accessory protein mRNA confers tissue-specific destabilization. J Immunol. 2004;173:6248-58 pubmed..These data demonstrate that the cellular capacity to respond to IL-1 is tightly regulated in a tissue-specific manner. ..
- McNabb L, Moore K, Scena J, Buono R, Berrettini W. Association analysis of CHMP1.5 genetic variation and bipolar disorder. Psychiatr Genet. 2005;15:211-4 pubmed..Variation in the CHMP1.5 gene does not appear to be associated with bipolar disorder. A systematic assessment of genetic variation in the region using association studies will be necessary. ..
- Ibanez de Caceres I, Dulaimi E, Hoffman A, Al Saleem T, Uzzo R, Cairns P. Identification of novel target genes by an epigenetic reactivation screen of renal cancer. Cancer Res. 2006;66:5021-8 pubmed
- Felix C, Kolaris C, Osheroff N. Topoisomerase II and the etiology of chromosomal translocations. DNA Repair (Amst). 2006;5:1093-108 pubmed..This review will summarize the evidence for topoisomerase II involvement in the genesis of translocations and extension of the model to acute leukemia in infants characterized by similar MLL translocations. ..
- Tang Z, Diamond M, Chen J, Holly T, Bonow R, Dasgupta A, et al. Polymorphisms in adenosine receptor genes are associated with infarct size in patients with ischemic cardiomyopathy. Clin Pharmacol Ther. 2007;82:435-40 pubmed..These results suggest that genetic variants in the adenosine receptor genes may predict the heart's response to ischemia or injury and might also influence an individual's response to adenosine therapy. ..
- Perez Liz G, Del Valle L, Gentilella A, Croul S, Khalili K. Detection of JC virus DNA fragments but not proteins in normal brain tissue. Ann Neurol. 2008;64:379-87 pubmed publisher..The goal of this study was to test the hypothesis that JCV may reside in a latent state in a specific region of the brains of immunocompetent (non-PML) individuals without any neurological conditions...
- Meng W, Nicholson R, Nathania L, Pertzev A, Nicholson A. New approaches to understanding double-stranded RNA processing by ribonuclease III purification and assays of homodimeric and heterodimeric forms of RNase III from bacterial extremophiles and mesophiles. Methods Enzymol. 2008;447:119-29 pubmed publisher..maritima RNases III and also describes the preparation of artificial heterodimers of Escherichia coli RNase III, which are providing new insight on the subunit and domain interactions involved in dsRNA recognition and cleavage. ..