Genomes and Genes
Experts and Doctors on base sequence in Toronto, Ontario, Canada
Locale: Toronto, Ontario, Canada
Topic: base sequence
Publications226 found, 100 shown here
- Zhang Y, Lu L, Furlonger C, Wu G, Paige C. Hemokinin is a hematopoietic-specific tachykinin that regulates B lymphopoiesis. Nat Immunol. 2000;1:392-7 pubmed..Thus, HK-1 may be an autocrine factor that is important for the survival of B cell precursors at a critical phase of development. ..
- Lovshin J, Estall J, Yusta B, Brown T, Drucker D. Glucagon-like peptide (GLP)-2 action in the murine central nervous system is enhanced by elimination of GLP-1 receptor signaling. J Biol Chem. 2001;276:21489-99 pubmed..These findings illustrate that CNS GLP-2R expression is not restricted to hypothalamic nuclei and demonstrate that the anorectic effects of GLP-2 are transient and modulated by the presence or absence of GLP-1R signaling in vivo. ..
- Wei K, Eubanks J, Francis J, Jia Z, Snead O. Cloning and tissue distribution of a novel isoform of the rat GABA(B)R1 receptor subunit. Neuroreport. 2001;12:833-7 pubmed
- Yousef G, Ordon M, Foussias G, Diamandis E. Molecular characterization, tissue expression, and mapping of a novel Siglec-like gene (SLG2) with three splice variants. Biochem Biophys Res Commun. 2001;284:900-10 pubmed
- Egan S, Cohen B, Sarkar M, Ying Y, Cohen S, Singh N, et al. Molecular cloning and expression analysis of a mouse UDP-GlcNAc:Gal(beta1-4)Glc(NAc)-R beta1,3-N-acetylglucosaminyltransferase homologous to Drosophila melanogaster Brainiac and the beta1,3-galactosyltransferase family. Glycoconj J. 2000;17:867-75 pubmed..The beta 3GnT gene is also expressed in a number of tumor cell lines. The human orthologue of beta 3GnT is located on chromosome 2pl5. ..
- Lorenzo M, Khan R, Wang Y, Tai S, Chan G, Cheung A, et al. Human endothelin converting enzyme-2 (ECE2): characterization of mRNA species and chromosomal localization. Biochim Biophys Acta. 2001;1522:46-52 pubmed
- Carbone M, Applegarth D, Robinson B. Intron retention and frameshift mutations result in severe pyruvate carboxylase deficiency in two male siblings. Hum Mutat. 2002;20:48-56 pubmed..In addition, both deletions are predicted to result in a frameshift to generate a premature termination codon such that the encoded mRNA could be subject to nonsense mediated decay...
- Lin H, White K. A complex network of RNA-RNA interactions controls subgenomic mRNA transcription in a tombusvirus. EMBO J. 2004;23:3365-74 pubmed
- Lamhonwah A, Ackerley C, Onizuka R, Tilups A, Lamhonwah D, Chung C, et al. Epitope shared by functional variant of organic cation/carnitine transporter, OCTN1, Campylobacter jejuni and Mycobacterium paratuberculosis may underlie susceptibility to Crohn's disease at 5q31. Biochem Biophys Res Commun. 2005;337:1165-75 pubmed..This impairment of l-carnitine transport by OCTN1 may respond to high-dose l-carnitine therapy. ..
- Kim F, Sing l A, Kaneko T, Bieman M, Stallwood N, Sadl V, et al. The vHNF1 homeodomain protein establishes early rhombomere identity by direct regulation of Kreisler expression. Mech Dev. 2005;122:1300-9 pubmed
- Cimino P, Nicholson B, Wu B, Xu W, White K. Multifaceted regulation of translational readthrough by RNA replication elements in a tombusvirus. PLoS Pathog. 2011;7:e1002423 pubmed publisher..Based on comparative sequence analysis and experimental data, basic elements of this regulatory model extend to other members of Tombusviridae, as well as to viruses outside of this family. ..
- Hoque M, Robillard K, Bendayan R. Regulation of breast cancer resistant protein by peroxisome proliferator-activated receptor ? in human brain microvessel endothelial cells. Mol Pharmacol. 2012;81:598-609 pubmed publisher..This study provides the first evidence of direct BCRP regulation by PPAR? in a human in vitro BBB model and suggests new targeting strategies for either improving drug brain bioavailability or increasing neuroprotection...
- Li X, Kazan H, Lipshitz H, Morris Q. Finding the target sites of RNA-binding proteins. Wiley Interdiscip Rev RNA. 2014;5:111-30 pubmed publisher..Future work in RBP motif finding should incorporate interactions between multiple RBDs and multiple RBPs in binding to RNA. ..
- Iacobucci I, Li Y, Roberts K, Dobson S, Kim J, Payne Turner D, et al. Truncating Erythropoietin Receptor Rearrangements in Acute Lymphoblastic Leukemia. Cancer Cell. 2016;29:186-200 pubmed publisher..Expression of truncated EPOR in mouse B cell progenitors induced ALL inÂ vivo. Human leukemic cells with EPOR rearrangements were sensitive to JAK-STAT inhibition, suggesting a therapeutic option in high-risk ALL. ..
- Thomas G, Roberts E, Walshe J, Cox D. Haplotypes and mutations in Wilson disease. Am J Hum Genet. 1995;56:1315-9 pubmed..The use of the haplotypes that we have identified provides an important guide for the identification of known mutations and can facilitate future mutation searches. ..
- Guha A, Lau N, Huvar I, Gutmann D, Provias J, Pawson T, et al. Ras-GTP levels are elevated in human NF1 peripheral nerve tumors. Oncogene. 1996;12:507-13 pubmed..Neurofibromin was not expressed in NF1 sarcomas, in support of its important negative Ras regulatory role in the pathogenesis of NF1 peripheral nerve tumors. ..
- Eppert K, Scherer S, Ozcelik H, Pirone R, Hoodless P, Kim H, et al. MADR2 maps to 18q21 and encodes a TGFbeta-regulated MAD-related protein that is functionally mutated in colorectal carcinoma. Cell. 1996;86:543-52 pubmed..These findings suggest that MADR2 is a tumor suppressor and that mutations acquired in colorectal carcinomas may function to disrupt TGFbeta signaling. ..
- Guidos C, Williams C, Grandal I, Knowles G, Huang M, Danska J. V(D)J recombination activates a p53-dependent DNA damage checkpoint in scid lymphocyte precursors. Genes Dev. 1996;10:2038-54 pubmed..These results demonstrate that a p53-mediated DNA damage checkpoint contributes to the immune deficiency characteristic of the scid mutation and limits the oncogenic potential of DSBs generated during V(D)J recombination. ..
- Zacksenhaus E, Jiang Z, Phillips R, Gallie B. Dual mechanisms of repression of E2F1 activity by the retinoblastoma gene product. EMBO J. 1996;15:5917-27 pubmed
- Irwin D, Satkunarajah M, Wen Y, Brubaker P, Pederson R, Wheeler M. The Xenopus proglucagon gene encodes novel GLP-1-like peptides with insulinotropic properties. Proc Natl Acad Sci U S A. 1997;94:7915-20 pubmed..These results demonstrate that despite an average of nine amino acid differences between the predicted Xenopus GLPs and hGLP-1, all act as hGLP-1R agonists. ..
- Wolting C, McGlade C. Cloning and chromosomal localization of a new member of the bHLH/PAS transcription factor family. Mamm Genome. 1998;9:463-8 pubmed..Interspecies backcross and FISH mapping have been used to localize the Tic gene to mouse Chromosome (Chr) 7 F2-F3, given the locus name Arntl. FISH mapping was also used to localize the human gene to Chr 11p15. ..
- Wang Y, Newton D, Robb G, Kau C, Miller T, Cheung A, et al. RNA diversity has profound effects on the translation of neuronal nitric oxide synthase. Proc Natl Acad Sci U S A. 1999;96:12150-5 pubmed..Highly structured nNOS mRNA 5'-untranslated regions, which have profound effects on translation both in vitro and in cells, contain cis RNA elements that modulate translational efficiency in response to changes in cellular phenotype. ..
- Backman S, Stambolic V, Suzuki A, Haight J, Elia A, Pretorius J, et al. Deletion of Pten in mouse brain causes seizures, ataxia and defects in soma size resembling Lhermitte-Duclos disease. Nat Genet. 2001;29:396-403 pubmed..These data represent the first evidence for the role of Pten and Akt in cell size regulation in mammals and provide an animal model for a human phakomatosis condition, Lhermitte-Duclos disease (LDD). ..
- Tsoporis J, Marks A, Haddad A, O Hanlon D, Jolly S, Parker T. S100A6 is a negative regulator of the induction of cardiac genes by trophic stimuli in cultured rat myocytes. Exp Cell Res. 2005;303:471-81 pubmed..We conclude that S100A6 may function as a global negative modulator of differentiated cardiac gene expression comparable to its putative role in cell cycle progression of dividing cells. ..
- Clendening J, Pandyra A, Boutros P, El Ghamrasni S, Khosravi F, Trentin G, et al. Dysregulation of the mevalonate pathway promotes transformation. Proc Natl Acad Sci U S A. 2010;107:15051-6 pubmed publisher..Taken together, our results suggest that HMGCR is a candidate metabolic oncogene and provide a molecular rationale for further exploring the statin family of HMGCR inhibitors as anticancer agents...
- Kahr W, Hinckley J, Li L, Schwertz H, Christensen H, Rowley J, et al. Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome. Nat Genet. 2011;43:738-40 pubmed publisher..NBEAL2 encodes a protein containing a BEACH domain that is predicted to be involved in vesicular trafficking and may be critical for the development of platelet ?-granules. ..
- Endicott J, Juranka P, Sarangi F, Gerlach J, Deuchars K, Ling V. Simultaneous expression of two P-glycoprotein genes in drug-sensitive Chinese hamster ovary cells. Mol Cell Biol. 1987;7:4075-81 pubmed..These conserved differences suggest that there may be functional differences between P-glycoprotein molecules. ..
- Fong G, Rossant J, Gertsenstein M, Breitman M. Role of the Flt-1 receptor tyrosine kinase in regulating the assembly of vascular endothelium. Nature. 1995;376:66-70 pubmed..We suggest that the Flt-1 signalling pathway may regulate normal endothelial cell-cell or cell-matrix interactions during vascular development. ..
- Khatri I, Forstner G, Forstner J. Suggestive evidence for two different mucin genes in rat intestine. Biochem J. 1993;294 ( Pt 2):391-9 pubmed..The results of DNA blots probed with M2-798 and an MLP-probe suggest that M2 and MLP are likely to be single-copy genes. It would appear therefore that normal rat intestine, like human intestine, may express two different mucin genes. ..
- Hudson J, Chen L, Fode C, Binkert C, Dennis J. Sak kinase gene structure and transcriptional regulation. Gene. 2000;241:65-73 pubmed..Using various Sak promoter/luciferase constructs, the core promoter region required for expression was located within 400bp of the message Cap site, and sequence further 5' strongly suppressed transcription. ..
- Brunt S, Silver J. Molecular cloning and characterization of two different cDNAs encoding the molecular chaperone Hsp90 in the oomycete Achlya ambisexualis. Fungal Genet Biol. 2004;41:239-52 pubmed..Only one of these, i.e., the 86 kDa protein was detected by an anti-phosphoserine antibody, suggesting that the difference in mass of the two Hsp90 isoforms, was due at least in part, to different levels of phosphoserine residues...
- Han Y, San Marina S, Liu J, Minden M. Transcriptional activation of c-myc proto-oncogene by WT1 protein. Oncogene. 2004;23:6933-41 pubmed..These observations strongly argue that in the case of breast cancer WT1 is functioning as an oncogene in part by stimulating the expression of c-myc. ..
- Kim R, Smith P, Aleyasin H, Hayley S, Mount M, Pownall S, et al. Hypersensitivity of DJ-1-deficient mice to 1-methyl-4-phenyl-1,2,3,6-tetrahydropyrindine (MPTP) and oxidative stress. Proc Natl Acad Sci U S A. 2005;102:5215-20 pubmed..Thus, DJ-1 protects against neuronal oxidative stress, and loss of DJ-1 may lead to Parkinson's disease by conferring hypersensitivity to dopaminergic insults. ..
- Rey M, Prasad R, Tailor C. The C domain in the surface envelope glycoprotein of subgroup C feline leukemia virus is a second receptor-binding domain. Virology. 2008;370:273-84 pubmed..Our results could have important implications for designing gammaretrovirus vectors that can efficiently infect specific target cells...
- Lai R, Ljubicic V, D Souza D, Hood D. Effect of chronic contractile activity on mRNA stability in skeletal muscle. Am J Physiol Cell Physiol. 2010;299:C155-63 pubmed publisher..This adaptation is likely beneficial in permitting more rapid phenotypic plasticity in response to subsequent contractile activity. ..
- Columbus J, Chiang Y, Shao W, Zhang N, Wang D, Gaisano H, et al. Insulin treatment and high-fat diet feeding reduces the expression of three Tcf genes in rodent pancreas. J Endocrinol. 2010;207:77-86 pubmed publisher..We suggest that hyperinsulinemia represses Tcf gene expression in the pancreas. Whether and how this reduction alters the function of pancreatic ? cells during hyperinsulinemia deserves further investigation. ..
- Matta A, DeSouza L, Ralhan R, Siu K. Small interfering RNA targeting 14-3-3? increases efficacy of chemotherapeutic agents in head and neck cancer cells. Mol Cancer Ther. 2010;9:2676-88 pubmed publisher..Taken together, our results strongly showed that downregulation of 14-3-3? expression may serve to improve the sensitivity of head and neck cancer cells to chemotherapeutic agents. ..
- Jiwan S, Wu B, White K. Subgenomic mRNA transcription in tobacco necrosis virus. Virology. 2011;418:1-11 pubmed publisher..Accordingly, our results indicate that the necrovirus TNV-D, like several other genera in the family Tombusviridae, uses a PT mechanism for transcription of its sg mRNAs...
- DeVeale B, van der Kooy D, Babak T. Critical evaluation of imprinted gene expression by RNA-Seq: a new perspective. PLoS Genet. 2012;8:e1002600 pubmed publisher..The results emphasize the importance of independent validation and suggest that the number of imprinted genes is much closer to the initial estimates. ..
- Andrulis I, Shotwell M, Evans Blackler S, Zalkin H, Siminovitch L, Ray P. Fine structure analysis of the Chinese hamster AS gene encoding asparagine synthetase. Gene. 1989;80:75-85 pubmed..The 5' flanking sequences were highly G + C-rich and, like other housekeeping genes, lacked TATA and CAAT boxes...
- Lu S, Rowan S, Bani M, Ben David Y. Retroviral integration within the Fli-2 locus results in inactivation of the erythroid transcription factor NF-E2 in Friend erythroleukemias: evidence that NF-E2 is essential for globin expression. Proc Natl Acad Sci U S A. 1994;91:8398-402 pubmed..Taken together, these results provide direct evidence that NF-E2 gene is essential for globin transcription and suggest that perturbation in expression of this transcription factor may contribute to erythroleukemia progression. ..
- Chambers C, Gallinger S, Anderson S, Giardina S, Ortaldo J, Hozumi N, et al. Expression of the NK-TR gene is required for NK-like activity in human T cells. J Immunol. 1994;152:2669-74 pubmed..Moreover, the results have important implications for examining developmental relationship between T and NK cells and the possible roles for T cells with NK-like activity in vivo. ..
- Nguyen T, Erb L, Weisman G, Marchese A, Heng H, Garrad R, et al. Cloning, expression, and chromosomal localization of the human uridine nucleotide receptor gene. J Biol Chem. 1995;270:30845-8 pubmed..Dendrogram analysis of the G protein-coupled P2 purinoceptors and the uridine nucleotide receptor indicates that these receptors belong to a family that may be more aptly named nucleotide receptors. ..
- Wang Y, Goligorsky M, Lin M, Wilcox J, Marsden P. A novel, testis-specific mRNA transcript encoding an NH2-terminal truncated nitric-oxide synthase. J Biol Chem. 1997;272:11392-401 pubmed
- Scherer S, Soder S, Duvoisin R, Huizenga J, Tsui L. The human metabotropic glutamate receptor 8 (GRM8) gene: a disproportionately large gene located at 7q31.3-q32.1. Genomics. 1997;44:232-6 pubmed..3-q32.1 bands of chromosome 7. This observation is relevant to the study of Smith-Lemli-Opitz syndrome and an autosomal dominant form of retinitis pigmentosa (RP10), since they map to the same region. ..
- Pece N, Vera S, Cymerman U, White R, Wrana J, Letarte M. Mutant endoglin in hereditary hemorrhagic telangiectasia type 1 is transiently expressed intracellularly and is not a dominant negative. J Clin Invest. 1997;100:2568-79 pubmed..A reduction in the level of functional endoglin is thus involved in the generation of HHT1, and associated arteriovenous malformations. ..
- Ling M, McEachern G, Seyda A, Mackay N, Scherer S, Bratinova S, et al. Detection of a homozygous four base pair deletion in the protein X gene in a case of pyruvate dehydrogenase complex deficiency. Hum Mol Genet. 1998;7:501-5 pubmed..This is the first documented case of a molecular defect in pyruvate dehydrogenase protein X. ..
- Sam M, Wurst W, Kluppel M, Jin O, Heng H, Bernstein A. Aquarius, a novel gene isolated by gene trapping with an RNA-dependent RNA polymerase motif. Dev Dyn. 1998;212:304-17 pubmed..Aqr was mapped to mouse chromosome 2 between regions E5 through F2 by using fluorescence in situ hybridization analysis. ..
- Yousef G, Diamandis E. The new kallikrein-like gene, KLK-L2. Molecular characterization, mapping, tissue expression, and hormonal regulation. J Biol Chem. 1999;274:37511-6 pubmed..KLK-L2 is expressed mainly in breast, brain, and testis and to a lesser extent in many other tissues. KLK-L2 is up-regulated by estrogens and progestins in the breast cancer cell line BT-474. ..
- Asai K, Platt C, Cochrane A. Control of HIV-1 env RNA splicing and transport: investigating the role of hnRNP A1 in exon splicing silencer (ESS3a) function. Virology. 2003;314:229-42 pubmed..Consistent with this hypothesis, replacement of ESS3a with consensus hnRNP A1 binding sites was found to be insufficient to block Rev-mediated RNA export. ..
- Bielas J, Heddle J. Elevated mutagenesis and decreased DNA repair at a transgene are associated with proliferation but not apoptosis in p53-deficient cells. Proc Natl Acad Sci U S A. 2003;100:12853-8 pubmed..The role of apoptosis in vivo, however, may be to remove whole tissue subpopulations that can be renewed by less sensitive stem cells. ..
- Sukhai M, Wu X, Xuan Y, Zhang T, Reis P, Dubé K, et al. Myeloid leukemia with promyelocytic features in transgenic mice expressing hCG-NuMA-RARalpha. Oncogene. 2004;23:665-78 pubmed..The phenotype of transgenic mice was consistent with a blockade of neutrophil differentiation. NuMA-RARalpha is therefore sufficient for disease development in this APL model. ..
- Lew J, Fei Y, Aleck K, Blencowe B, Weksberg R, Sadowski P. CDKN1C mutation in Wiedemann-Beckwith syndrome patients reduces RNA splicing efficiency and identifies a splicing enhancer. Am J Med Genet A. 2004;127A:268-76 pubmed..However, the total amount of spliced message was not reduced by the mutation in spite of the reduced efficiency of splicing. We discuss the possible role of the splicing defect in the pathogenesis of WBS in this pedigree. ..
- Faiyaz ul Haque M, Ahmad W, Zaidi S, Hussain S, Haque S, Ahmad M, et al. Novel mutations in the EXT1 gene in two consanguineous families affected with multiple hereditary exostoses (familial osteochondromatosis). Clin Genet. 2004;66:144-51 pubmed..In both families, an increased number of affected male subjects were observed. In affected females in family 2, phenotypic variability and incomplete penetrance were noted...
- Stavrinides J, Guttman D. Nucleotide sequence and evolution of the five-plasmid complement of the phytopathogen Pseudomonas syringae pv. maculicola ES4326. J Bacteriol. 2004;186:5101-15 pubmed..syringae strains. Comparative genomic analyses of these and other P. syringae plasmids suggest a role for recombination and integrative elements in driving plasmid evolution. ..
- Von Both I, Silvestri C, Erdemir T, Lickert H, Walls J, Henkelman R, et al. Foxh1 is essential for development of the anterior heart field. Dev Cell. 2004;7:331-45 pubmed..Thus, Foxh1 and Nkx2-5 functionally interact and are essential for development of the AHF and its derivatives, the RV and OFT, in response to TGFbeta-like signals. ..
- Gao Y, Jheon A, Nourkeyhani H, Kobayashi H, Ganss B. Molecular cloning, structure, expression, and chromosomal localization of the human Osterix (SP7) gene. Gene. 2004;341:101-10 pubmed..13 by fluorescent in situ hybridization (FISH). The identification and initial characterization of the SP7 gene will facilitate the study of the molecular regulation of osteoblast differentiation in humans. ..
- Thompson M, Bowen R, Wong B, Antal J, Liu Z, Yu H, et al. Whole genome amplification of buccal cell DNA: genotyping concordance before and after multiple displacement amplification. Clin Chem Lab Med. 2005;43:157-62 pubmed..Genotyping DNA from MDA-based WGA is indistinguishable from routine polymerase chain reaction and offers a stable DNA source for genomic research and clinical diagnosis. ..
- Yaniw D, Hu J. Epithelium-specific ets transcription factor 2 upregulates cytokeratin 18 expression in pulmonary epithelial cells through an interaction with cytokeratin 18 intron 1. Cell Res. 2005;15:423-9 pubmed..These experiments suggest that Ese-2 could play a role in the regulation of K18 expression in lung epithelial cells. ..
- Mackay R, Helsen C, Tkach J, Glover J. The C-terminal extension of Saccharomyces cerevisiae Hsp104 plays a role in oligomer assembly. Biochemistry. 2008;47:1918-27 pubmed publisher..However, elimination of the whole C-terminal extension results in an Hsp104 molecule which is unable to assemble and becomes aggregation prone at high temperature, highlighting a novel structural role for this region. ..
- Chan A, Khanna R, Li Q, Stanley E. Munc18: a presynaptic transmitter release site N type (CaV2.2) calcium channel interacting protein. Channels (Austin). 2007;1:11-20 pubmed..Thus, the calcium channel may serve as a surface membrane platform anchoring a Munc18-containing bridge to synaptotagmin and the synaptic vesicle. ..
- MacPherson M, Sadowski P. The CTCF insulator protein forms an unusual DNA structure. BMC Mol Biol. 2010;11:101 pubmed publisher..The findings described in this paper suggest mechanisms by which CTCF is able to form DNA loops, organize the mammalian genome and function as an insulator protein. ..
- Naeeni A, Conte M, Bayfield M. RNA chaperone activity of human La protein is mediated by variant RNA recognition motif. J Biol Chem. 2012;287:5472-82 pubmed publisher..This work delineates the structural elements required for La-mediated RNA chaperone activity and provides a basis for understanding how La can enhance the folding of its various RNA targets...
- Siriwardena K, Mackay N, Levandovskiy V, Blaser S, Raiman J, Kantor P, et al. Mitochondrial citrate synthase crystals: novel finding in Sengers syndrome caused by acylglycerol kinase (AGK) mutations. Mol Genet Metab. 2013;108:40-50 pubmed publisher..The identification of citrate synthase precipitates by electron microscopy and the presence of vascular strokes in two siblings may expand the cellular and clinical phenotype of this disease. ..
- Liu X, Pawson T. The epidermal growth factor receptor phosphorylates GTPase-activating protein (GAP) at Tyr-460, adjacent to the GAP SH2 domains. Mol Cell Biol. 1991;11:2511-6 pubmed..GAP Tyr-460 is located immediately C terminal to the second GAP SH2 domain, suggesting that its phosphorylation might have a role in regulating protein-protein interactions. ..
- Frazier G, Siewertsen M, Hofker M, Brubacher M, Cox D. A null deficiency allele of alpha 1-antitrypsin, QOludwigshafen, with altered tertiary structure. J Clin Invest. 1990;86:1878-84 pubmed..A total of 13 different alpha 1AT deficiency alleles, 6 of them null alleles, have been sequenced to date. ..
- Malhotra S, Hart K, Klamut H, Thomas N, Bodrug S, Burghes A, et al. Frame-shift deletions in patients with Duchenne and Becker muscular dystrophy. Science. 1988;242:755-9 pubmed..In a number of BMD patients (mild and severe BMD), the reading frame of messenger RNA was not maintained. On the basis of these findings, a model for reinitiation from an internal start codon is suggested. ..
- Calzonetti T, Stevenson L, Rossant J. A novel regulatory region is required for trophoblast-specific transcription in transgenic mice. Dev Biol. 1995;171:615-26 pubmed..Delineation of a diploid trophoblast-specific regulatory region will facilitate the identification of factors that may regulate the development of this lineage. ..
- Anderson S, Gallinger S, Roder J, Frey J, Young H, Ortaldo J. A cyclophilin-related protein involved in the function of natural killer cells. Proc Natl Acad Sci U S A. 1993;90:542-6 pubmed..There are also three regions that contain extensive arginine- and serine-rich repeats. Comparison of the human and mouse predicted amino acid sequences revealed > 80% homology. ..
- Dho S, Jacob S, Wolting C, French M, Rohrschneider L, McGlade C. The mammalian numb phosphotyrosine-binding domain. Characterization of binding specificity and identification of a novel PDZ domain-containing numb binding protein, LNX. J Biol Chem. 1998;273:9179-87 pubmed..We speculate that LNX may be important for clustering PTB-containing proteins with functionally related transmembrane proteins in specific membrane compartments. ..
- Wiersma E, Ronai D, Berru M, Tsui F, Shulman M. Role of the intronic elements in the endogenous immunoglobulin heavy chain locus. Either the matrix attachment regions or the core enhancer is sufficient to maintain expression. J Biol Chem. 1999;274:4858-62 pubmed..These findings suggest new models for how the enhancer and MARs might collaborate in the initiation or maintenance of transcription. ..
- Yousef G, Chang A, Diamandis E. Identification and characterization of KLK-L4, a new kallikrein-like gene that appears to be down-regulated in breast cancer tissues. J Biol Chem. 2000;275:11891-8 pubmed..Its expression is regulated by steroid hormones in the breast cancer cell line BT-474. This gene may be involved in the pathogenesis and/or progression of breast cancer and may find applicability as a novel cancer biomarker. ..
- Hew C, Poon R, Xiong F, Gauthier S, Shears M, King M, et al. Liver-specific and seasonal expression of transgenic Atlantic salmon harboring the winter flounder antifreeze protein gene. Transgenic Res. 1999;8:405-14 pubmed..This study had demonstrated a tissue-specific and stable expression of the antifreeze protein transgene in the F3 generation of the transgenic salmon 1469 line. ..
- Couture J, Mitri A, Lagace R, Smits R, Berk T, Bouchard H, et al. A germline mutation at the extreme 3' end of the APC gene results in a severe desmoid phenotype and is associated with overexpression of beta-catenin in the desmoid tumor. Clin Genet. 2000;57:205-12 pubmed..The natural history of the disease is variable between individuals, and surgical interventions have to be timed appropriately due to the frequent recurrences. ..
- Scorilas A, Kyriakopoulou L, Yousef G, Ashworth L, Kwamie A, Diamandis E. Molecular cloning, physical mapping, and expression analysis of a novel gene, BCL2L12, encoding a proline-rich protein with a highly conserved BH2 domain of the Bcl-2 family. Genomics. 2001;72:217-21 pubmed..We also identified one splice variant of BCL2L12 that is primarily expressed in skeletal muscle. ..
- Bashirullah A, Cooperstock R, Lipshitz H. Spatial and temporal control of RNA stability. Proc Natl Acad Sci U S A. 2001;98:7025-8 pubmed..Similar mechanisms are likely to act later in development to restrict certain classes of transcripts to particular cell types within somatic cell lineages. Functions of transcript degradation and protection are discussed. ..
- Sood V, Yekta S, Collins R. The contribution of 2'-hydroxyls to the cleavage activity of the Neurospora VS ribozyme. Nucleic Acids Res. 2002;30:1132-8 pubmed..A cluster of important 2'-OHs lining the minor groove of stem-loop I and helix II suggests that these regions of the backbone may play an important role in positioning helices in the active structure of the ribozyme...
- Zhu C, Blackhall F, Pintilie M, Iyengar P, Liu N, Ho J, et al. Skp2 gene copy number aberrations are common in non-small cell lung carcinoma, and its overexpression in tumors with ras mutation is a poor prognostic marker. Clin Cancer Res. 2004;10:1984-91 pubmed..There appears to be a synergistic interaction between high Skp2 protein expression and ras mutation with negative impact on the survival of NSCLC patients. ..
- Du G, Avila G, Sharma P, Khanna V, Dirksen R, MacLennan D. Role of the sequence surrounding predicted transmembrane helix M4 in membrane association and function of the Ca(2+) release channel of skeletal muscle sarcoplasmic reticulum (ryanodine receptor isoform 1). J Biol Chem. 2004;279:37566-74 pubmed..Thus, this region may act as a negative regulatory module that increases the energy barrier for Ca(2+) release channel opening. ..
- Nakabayashi K, Amann D, Ren Y, Saarialho Kere U, Avidan N, Gentles S, et al. Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy. Am J Hum Genet. 2005;76:510-6 pubmed publisher..Given the absence of cutaneous photosensitivity in the patients with C7orf11 mutations, together with the protein's nuclear localization, C7orf11 may be involved in transcription but not DNA repair...
- Newman B, Gu X, Wintle R, Cescon D, Yazdanpanah M, Liu X, et al. A risk haplotype in the Solute Carrier Family 22A4/22A5 gene cluster influences phenotypic expression of Crohn's disease. Gastroenterology. 2005;128:260-9 pubmed..The association of the SLC22A -TC haplotype and CARD15 alleles with ileal disease suggests that these variants have biologically intertwined effects in the pathogenesis of CD. ..
- Subramanian M, Qiao W, Khanam N, Wilkins O, Der S, Lalich J, et al. Transcriptional regulation of the one-carbon metabolism regulon in Saccharomyces cerevisiae by Bas1p. Mol Microbiol. 2005;57:53-69 pubmed..The response of the promoter to glycine required an intact SHM2 gene but was restored in a shm2 strain by addition of formate to the medium. ..
- Zhang K, Nowak I, Rushlow D, Gallie B, Lohmann D. Patterns of missplicing caused by RB1 gene mutations in patients with retinoblastoma and association with phenotypic expression. Hum Mutat. 2008;29:475-84 pubmed publisher..However, the location of a mutation relative to the splice sequence has a strong and consistent influence on phenotypic expression. ..
- Shaw J, Diamandis E. Regulation of human tissue kallikrein-related peptidase expression by steroid hormones in 32 cell lines. Biol Chem. 2008;389:1409-19 pubmed..Knowledge of KLK hormonal regulation patterns will help to shed further light on their potential use as biomarkers and therapeutic targets for hormone-related malignancies. ..
- Couto J, Gomez L, Wigg K, Cate Carter T, Archibald J, Anderson B, et al. The KIAA0319-like (KIAA0319L) gene on chromosome 1p34 as a candidate for reading disabilities. J Neurogenet. 2008;22:295-313 pubmed publisher..Additional studies in independent samples are now required to confirm these findings. ..
- Hagerman K, Ruan H, Edamura K, Matsuura T, Pearson C, Wang Y. The ATTCT repeats of spinocerebellar ataxia type 10 display strong nucleosome assembly which is enhanced by repeat interruptions. Gene. 2009;434:29-34 pubmed publisher..These differences may contribute to phenotypic variation seen between families having pure and interrupted SCA10 repeats, as well as the overall genetic instability at the SCA10 locus. ..
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