Experts and Doctors on base sequence in Toronto, Ontario, Canada

Summary

Locale: Toronto, Ontario, Canada
Topic: base sequence

Top Publications

  1. Letwin K, Mizzen L, Motro B, Ben David Y, Bernstein A, Pawson T. A mammalian dual specificity protein kinase, Nek1, is related to the NIMA cell cycle regulator and highly expressed in meiotic germ cells. EMBO J. 1992;11:3521-31 pubmed
    ..These results suggest that Nek1 is a mammalian relative of the fungal NIMA cell cycle regulator...
  2. Ben David Y, Giddens E, Letwin K, Bernstein A. Erythroleukemia induction by Friend murine leukemia virus: insertional activation of a new member of the ets gene family, Fli-1, closely linked to c-ets-1. Genes Dev. 1991;5:908-18 pubmed
    ..The involvement of the murine Fli-1, Spi-1, and avian v-ets genes in erythroleukemia induction suggests that activation of ets gene family members plays an important role in the progression of these multistage malignancies...
  3. Klamut H, Gangopadhyay S, Worton R, Ray P. Molecular and functional analysis of the muscle-specific promoter region of the Duchenne muscular dystrophy gene. Mol Cell Biol. 1990;10:193-205 pubmed
    ..On the other hand, the unique profile of myogenic cell line-specific induction displayed by our DMD promoter-CAT gene constructs suggests that other as yet undefined cis-acting sequences and/or trans-acting factors may also be involved. ..
  4. Dalla Libera L, Hoffmann E, Floroff M, Jackowski G. Isolation and nucleotide sequence of the cDNA encoding human ventricular myosin light chain 2. Nucleic Acids Res. 1989;17:2360 pubmed
  5. Ben David Y, Prideaux V, Chow V, Benchimol S, Bernstein A. Inactivation of the p53 oncogene by internal deletion or retroviral integration in erythroleukemic cell lines induced by Friend leukemia virus. Oncogene. 1988;3:179-85 pubmed
    ..The 5' end of the deletion originates within exon 4 and extends 3' to within the eighth intron. The significance of these findings with regard to the multi-stage nature of Friend virus induced erythroleukemia is discussed...
  6. Bapat B, Ethier M, Neote K, Mahuran D, Gravel R. Cloning and sequence analysis of a cDNA encoding the beta-subunit of mouse beta-hexosaminidase. FEBS Lett. 1988;237:191-5 pubmed
    ..The amino acid sequence also shows a structurally similar though not identical site for internal cleavage responsible for the generation of mature beta a- and beta b-polypeptides. ..
  7. Freund C, Gregory Evans C, Furukawa T, Papaioannou M, Looser J, Ploder L, et al. Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor. Cell. 1997;91:543-53 pubmed
    ..Mutations in the CRX gene cause adCRD either by haploinsufficiency or by a dominant negative effect and demonstrate that CRX is essential for the maintenance of mammalian photoreceptors. ..
  8. Bashirullah A, Halsell S, Cooperstock R, Kloc M, Karaiskakis A, Fisher W, et al. Joint action of two RNA degradation pathways controls the timing of maternal transcript elimination at the midblastula transition in Drosophila melanogaster. EMBO J. 1999;18:2610-20 pubmed
    ..The second pathway is activated 2 h after fertilization and functions together with the maternal pathway to ensure that transcripts are degraded by the MBT. ..
  9. Seeman P, Nam D, Ulpian C, Liu I, Tallerico T. New dopamine receptor, D2(Longer), with unique TG splice site, in human brain. Brain Res Mol Brain Res. 2000;76:132-41 pubmed
    ..A new splice variant of the D2 receptor, D2(Longer), with a unique TG splice site, was found in one control brain and in two psychotic brains. ..

More Information

Publications226 found, 100 shown here

  1. 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. ..
  2. 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. ..
  3. 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
  4. 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
  5. 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. ..
  6. 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
  7. 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...
  8. 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
  9. 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. ..
  10. 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
  11. Xu W, White K. RNA-based regulation of transcription and translation of aureusvirus subgenomic mRNA1. J Virol. 2009;83:10096-105 pubmed publisher
  12. Huesca M, Lock L, Khine A, Viau S, Peralta R, Cukier I, et al. A novel small molecule with potent anticancer activity inhibits cell growth by modulating intracellular labile zinc homeostasis. Mol Cancer Ther. 2009;8:2586-96 pubmed publisher
  13. Dugani C, Paquin A, Kaplan D, Miller F. Coffin-Lowry syndrome: a role for RSK2 in mammalian neurogenesis. Dev Biol. 2010;347:348-59 pubmed publisher
  14. 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. ..
  15. 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...
  16. 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. ..
  17. 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 in vivo. Human leukemic cells with EPOR rearrangements were sensitive to JAK-STAT inhibition, suggesting a therapeutic option in high-risk ALL. ..
  18. 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. ..
  19. 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. ..
  20. 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. ..
  21. 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. ..
  22. 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
  23. 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. ..
  24. 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. ..
  25. 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. ..
  26. 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). ..
  27. 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. ..
  28. Coulthard A, Alm C, Cealiac I, Sinclair D, Honda B, Rossi F, et al. Essential loci in centromeric heterochromatin of Drosophila melanogaster. I: the right arm of chromosome 2. Genetics. 2010;185:479-95 pubmed publisher
  29. 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...
  30. 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. ..
  31. 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. ..
  32. 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. ..
  33. 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. ..
  34. 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. ..
  35. 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...
  36. 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. ..
  37. 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. ..
  38. 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...
  39. 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. ..
  40. 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. ..
  41. 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. ..
  42. 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...
  43. 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. ..
  44. 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...
  45. 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. ..
  46. 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. ..
  47. 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. ..
  48. 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
  49. 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. ..
  50. 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. ..
  51. 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. ..
  52. 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. ..
  53. 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. ..
  54. 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. ..
  55. 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. ..
  56. 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. ..
  57. 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. ..
  58. 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...
  59. 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. ..
  60. 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. ..
  61. 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. ..
  62. 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. ..
  63. 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. ..
  64. 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. ..
  65. 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. ..
  66. 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. ..
  67. 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...
  68. 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. ..
  69. 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. ..
  70. 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. ..
  71. 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. ..
  72. 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. ..
  73. 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. ..
  74. 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. ..
  75. 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. ..
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