Experts and Doctors on base sequence in Huddinge, Stockholm, Sweden


Locale: Huddinge, Stockholm, Sweden
Topic: base sequence

Top Publications

  1. Gottlicher M, Widmark E, Li Q, Gustafsson J. Fatty acids activate a chimera of the clofibric acid-activated receptor and the glucocorticoid receptor. Proc Natl Acad Sci U S A. 1992;89:4653-7 pubmed
    ..In conclusion, the present results indicate that fatty acids can regulate gene expression mediated by a member of the steroid nuclear receptor superfamily...
  2. Zaphiropoulos P. Exon skipping and circular RNA formation in transcripts of the human cytochrome P-450 2C18 gene in epidermis and of the rat androgen binding protein gene in testis. Mol Cell Biol. 1997;17:2985-93 pubmed
    ..Moreover, the relative stability of these molecules is apparently the key factor that determines the relative ease of their detection. ..
  3. Zhao Y, Pan Hammarstrom Q, Kacskovics I, Hammarstrom L. The porcine Ig delta gene: unique chimeric splicing of the first constant region domain in its heavy chain transcripts. J Immunol. 2003;171:1312-8 pubmed
    ..However, the exon could be spliced into most of the expressed transcripts in vitro in cell transfection experiments after introduction of a single T nucleotide to restore the branchpoint sequence upstream of the putative H2 exon. ..
  4. Rehn A, Chalk A, Wendel M. Differential regulation of osteoadherin (OSAD) by TGF-beta1 and BMP-2. Biochem Biophys Res Commun. 2006;349:1057-64 pubmed
  5. Dahlman I, Eriksson P, Kaaman M, Jiao H, Lindgren C, Kere J, et al. alpha2-Heremans-Schmid glycoprotein gene polymorphisms are associated with adipocyte insulin action. Diabetologia. 2004;47:1974-9 pubmed
    ..When an individual's set of susceptibility alleles at such loci exceeds a threshold, clinical disease occurs. Lipolysis in adipocytes appears to be a phenotype that is particularly sensitive to variation in AHSG. ..
  6. Enmark E, Kainu T, Pelto Huikko M, Gustafsson J. Identification of a novel member of the nuclear receptor superfamily which is closely related to Rev-ErbA. Biochem Biophys Res Commun. 1994;204:49-56 pubmed
  7. Miranda Vizuete A, Damdimopoulos A, Pedrajas J, Gustafsson J, Spyrou G. Human mitochondrial thioredoxin reductase cDNA cloning, expression and genomic organization. Eur J Biochem. 1999;261:405-12 pubmed
    ..Finally, we determined the genomic organization of the human TrxR2 gene, which consists of 18 exons spanning about 67 kb, and its chromosomal localization at position 22q11.2. ..
  8. Baumann H, Knapp S, Karshikoff A, Ladenstein R, Hard T. DNA-binding surface of the Sso7d protein from Sulfolobus solfataricus. J Mol Biol. 1995;247:840-6 pubmed
    ..We note that the five (of 14) lysine side-chains that are specifically subjected to N zeta-monomethylation in the cell are located on surfaces of Sso7d that are exposed to the solvent in the proposed Sso7d-DNA complex. ..
  9. Guardiola Diaz H, Rehnmark S, Usuda N, Albrektsen T, Feltkamp D, Gustafsson J, et al. Rat peroxisome proliferator-activated receptors and brown adipose tissue function during cold acclimatization. J Biol Chem. 1999;274:23368-77 pubmed

More Information


  1. Gustafsson M, Hussain A, Mohammad D, Mohamed A, Nguyen V, Metalnikov P, et al. Regulation of nucleocytoplasmic shuttling of Bruton's tyrosine kinase (Btk) through a novel SH3-dependent interaction with ankyrin repeat domain 54 (ANKRD54). Mol Cell Biol. 2012;32:2440-53 pubmed publisher
    ..Liar is the first protein identified that specifically influences the nucleocytoplasmic shuttling of Btk and Txk and belongs to a rare group of known proteins carrying out this activity in a Crm1-dependent manner. ..
  2. Alberti S, Steffensen K, Gustafsson J. Structural characterisation of the mouse nuclear oxysterol receptor genes LXRalpha and LXRbeta. Gene. 2000;243:93-103 pubmed
    ..Most striking is the identification of one potential NFkappaB and seven potential Ets-protein binding sites in the LXRbeta promoter, suggesting an important role for this receptor in the haematopoietic/immune system. ..
  3. Korhonen J, Pham X, Pellegrini M, Falkenberg M. Reconstitution of a minimal mtDNA replisome in vitro. EMBO J. 2004;23:2423-9 pubmed
    ..The functional interactions between TWINKLE and POLgamma thus explain why mutations in these two proteins cause an identical syndrome. ..
  4. Zaphiropoulos P, Unden A, Rahnama F, Hollingsworth R, Toftgard R. PTCH2, a novel human patched gene, undergoing alternative splicing and up-regulated in basal cell carcinomas. Cancer Res. 1999;59:787-92 pubmed
    ..This finding tightly links PTCH2 with the sonic hedgehog/PTCH signaling pathway, implying that PTCH2 has related, but yet distinct, functions than PTCH1. ..
  5. Enmark E, Pelto Huikko M, Grandien K, Lagercrantz S, Lagercrantz J, Fried G, et al. Human estrogen receptor beta-gene structure, chromosomal localization, and expression pattern. J Clin Endocrinol Metab. 1997;82:4258-65 pubmed
    ..In addition, we find ER beta in ovarian granulosa cells, indicating that estrogens also participate in the regulation of follicular growth in the human. ..
  6. Miranda Vizuete A, Pedrajas J, Damdimopoulos A, Spyrou G. Cloning and sequencing of mouse glutaredoxin (grx) cDNA. DNA Seq. 1999;10:179-82 pubmed
    ..The deduced polypeptide sequence encodes a 107 amino acid protein displaying a high degree of homology with other members of the glutaredoxin family. ..
  7. Ohyama Y, Meaney S, Heverin M, Ekström L, Brafman A, Shafir M, et al. Studies on the transcriptional regulation of cholesterol 24-hydroxylase (CYP46A1): marked insensitivity toward different regulatory axes. J Biol Chem. 2006;281:3810-20 pubmed
    ..The failure to demonstrate a significant transcriptional regulation under most conditions is discussed in relation to the turnover of brain and neuronal cholesterol. ..
  8. Melik W, Nilsson A, Johansson M. Detection strategies of tick-borne encephalitis virus in Swedish Ixodes ricinus reveal evolutionary characteristics of emerging tick-borne flaviviruses. Arch Virol. 2007;152:1027-34 pubmed
    ..The sequences were characterised and compared with those of other tick-borne flaviviruses, which classified the virus as Western European TBEV. ..
  9. Ek Rylander B, Bill P, Norgard M, Nilsson S, Andersson G. Cloning, sequence, and developmental expression of a type 5, tartrate-resistant, acid phosphatase of rat bone. J Biol Chem. 1991;266:24684-9 pubmed
  10. Kuiper G, Enmark E, Pelto Huikko M, Nilsson S, Gustafsson J. Cloning of a novel receptor expressed in rat prostate and ovary. Proc Natl Acad Sci U S A. 1996;93:5925-30 pubmed
    ..We conclude that clone 29 cDNA encodes a novel rat ER, which we suggest be named rat ERbeta to distinguish it from the previously cloned ER (ERalpha) from rat uterus. ..
  11. Carstenius P, Flock J, Lindberg A. Nucleotide sequence of rfaI and rfaJ genes encoding lipopolysaccharide glycosyl transferases from Salmonella typhimurium. Nucleic Acids Res. 1990;18:6128 pubmed
  12. O Farrell F, Esfahani S, Engstr m Y, Kylsten P. Regulation of the Drosophila lin-41 homologue dappled by let-7 reveals conservation of a regulatory mechanism within the LIN-41 subclade. Dev Dyn. 2008;237:196-208 pubmed publisher
    ..A cell-based assay verified let-7 miRNA down-regulation of dpld expression by means of its 3'-untranslated region. Thus, dpld seems also to be miRNA regulated, suggesting that miRNAs represent an ancient mechanism of LIN-41 regulation...
  13. Pettersson K, Svensson K, Mattsson R, Carlsson B, Ohlsson R, Berkenstam A. Expression of a novel member of estrogen response element-binding nuclear receptors is restricted to the early stages of chorion formation during mouse embryogenesis. Mech Dev. 1996;54:211-23 pubmed
  14. Miranda Vizuete A, Gustafsson J, Spyrou G. Molecular cloning and expression of a cDNA encoding a human thioredoxin-like protein. Biochem Biophys Res Commun. 1998;243:284-8 pubmed
    ..Northern blot analysis indicates that the txl probe hybridizes to a 1.3 Kb mRNA and is ubiquitously expressed in human tissues with the highest expression in stomach, testis and bone marrow. ..
  15. Finta C, Zaphiropoulos P. The human cytochrome P450 3A locus. Gene evolution by capture of downstream exons. Gene. 2000;260:13-23 pubmed
    ..These findings may represent a generalized evolutionary process with genes having the potential to capture neighboring sequences and use them as functional exons. ..
  16. Vorechovsky I, Vihinen M, de Saint Basile G, Honsová S, Hammarstrom L, Muller S, et al. DNA-based mutation analysis of Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinaemia. Hum Mol Genet. 1995;4:51-8 pubmed
  17. Levinovitz A, Norstedt G, van den Berg S, Robinson I, Ekstrom T. Isolation of an insulin-like growth factor II cDNA from guinea pig liver: expression and developmental regulation. Mol Cell Endocrinol. 1992;89:105-10 pubmed
    ..Our conclusions are that the mature IGF-II peptide in the guinea pig is 100% identical to the mature peptide in the human.(ABSTRACT TRUNCATED AT 250 WORDS) ..
  18. Holm F, Ström S, Inzunza J, Baker D, Strömberg A, Rozell B, et al. An effective serum- and xeno-free chemically defined freezing procedure for human embryonic and induced pluripotent stem cells. Hum Reprod. 2010;25:1271-9 pubmed publisher
    ..They formed teratomas containing tissue components of the three germ layers. The defined freezing-thawing system described here offers an excellent simple option for banking of hESCs and iPSCs. ..
  19. Teboul M, Enmark E, Li Q, Wikstrom A, Pelto Huikko M, Gustafsson J. OR-1, a member of the nuclear receptor superfamily that interacts with the 9-cis-retinoic acid receptor. Proc Natl Acad Sci U S A. 1995;92:2096-100 pubmed
    ..In transfection experiments, OR-1 appears to activate RXR-mediated function through the DR4. Therefore OR-1 might modulate 9-cis-retinoic acid signaling by interacting with RXR. ..
  20. Chandrasekar G, Lauter G, Hauptmann G. Distribution of corticotropin-releasing hormone in the developing zebrafish brain. J Comp Neurol. 2007;505:337-51 pubmed
    ..The widespread distribution of CRH-synthesizing cells outside the preoptic region suggests additional functions of CRH in the embryonic zebrafish brain. ..
  21. Grandien K. Determination of transcription start sites in the human estrogen receptor gene and identification of a novel, tissue-specific, estrogen receptor-mRNA isoform. Mol Cell Endocrinol. 1996;116:207-12 pubmed
    ..In addition a novel 5' untranslated exon was isolated from human liver. These results demonstrate that the human ER gene contains a third, previously not described promoter which appears to be predominantly expressed in liver. ..
  22. Eggertsen G, Olin M, Andersson U, Ishida H, Kubota S, Hellman U, et al. Molecular cloning and expression of rabbit sterol 12alpha-hydroxylase. J Biol Chem. 1996;271:32269-75 pubmed
    ..5 and 4.5 kilobases, respectively. Fasting of rats and mice led to a severalfold increase in both enzyme activity and mRNA levels. In contrast, starvation of rabbits had little or no stimulatory effect on enzyme activity and mRNA levels. ..
  23. Cerny R, Slaby I, Hammarstrom L, Wurtz T. A novel gene expressed in rat ameloblasts codes for proteins with cell binding domains. J Bone Miner Res. 1996;11:883-91 pubmed
    ..The amelins are likely to be constituents of the enamel matrix and the only proteins that have so far been implicated in binding interactions between the ameloblast surface and its extracellular matrix...
  24. Antonson P, Stellan B, Yamanaka R, Xanthopoulos K. A novel human CCAAT/enhancer binding protein gene, C/EBPepsilon, is expressed in cells of lymphoid and myeloid lineages and is localized on chromosome 14q11.2 close to the T-cell receptor alpha/delta locus. Genomics. 1996;35:30-8 pubmed
  25. Liu W, Vierke G, Wenke A, Thomm M, Ladenstein R. Crystal structure of the archaeal heat shock regulator from Pyrococcus furiosus: a molecular chimera representing eukaryal and bacterial features. J Mol Biol. 2007;369:474-88 pubmed publisher
    ..Molecular docking and mutational analyses suggested a novel binding mode in which the major specific contacts occur at the minor groove interacting with the strongly basic wing containing a cluster of three arginine residues...
  26. Shimokawa T, Svärd J, Heby Henricson K, Teglund S, Toftgard R, Zaphiropoulos P. Distinct roles of first exon variants of the tumor-suppressor Patched1 in Hedgehog signaling. Oncogene. 2007;26:4889-96 pubmed
    ..Thus, our study supports a role of splicing variation and promoter choice for HH signaling regulation. ..
  27. Pramfalk C, Jiang Z, Cai Q, Hu H, Zhang S, Han T, et al. HNF1alpha and SREBP2 are important regulators of NPC1L1 in human liver. J Lipid Res. 2010;51:1354-62 pubmed publisher
    ..ChIP assays confirmed that HNF1alpha can bind to the NPC1L1 promoter in vivo. ..
  28. Visco Comandini U, Yun Z, Vahlne A, Sonnerborg A. No association of HIV type 1 long terminal repeat sequence pattern with long-term nonprogression and in vivo viral replication levels in European subjects. AIDS Res Hum Retroviruses. 1999;15:609-17 pubmed
    ..Our results suggest that HIV-1 LTR defects are rare among Italian and Swedish LTNPs. ..
  29. Sommer W, Arlinde C, Caberlotto L, Thorsell A, Hyytia P, Heilig M. Differential expression of diacylglycerol kinase iota and L18A mRNAs in the brains of alcohol-preferring AA and alcohol-avoiding ANA rats. Mol Psychiatry. 2001;6:103-8; 5 pubmed
    ..Differential display RT-PCR seems to provide a feasible strategy to identify previously unknown genes whose differential expression correlates with behavioral phenotypes related to dependence. ..
  30. Catchpole I, Engstrom W. Nucleotide sequence of a porcine insulin-like growth factor II cDNA. Nucleic Acids Res. 1990;18:6430 pubmed
  31. Zaphiropoulos P. Differential expression of cytochrome P450 2C24 transcripts in rat kidney and prostate: evidence indicative of alternative and possibly trans splicing events. Biochem Biophys Res Commun. 1993;192:778-86 pubmed
    ..This implies that either the 2C24 gene is a nontypical P450 gene having exon 4 sequences both upstream and downstream of exon 2 or that trans splicing of canonical P450 2C24 primary transcripts occurs in these tissues. ..
  32. Rowlands J, McEwan I, Gustafsson J. Trans-activation by the human aryl hydrocarbon receptor and aryl hydrocarbon receptor nuclear translocator proteins: direct interactions with basal transcription factors. Mol Pharmacol. 1996;50:538-48 pubmed
    ..Taken together, these results suggest that AhR and ARNT activate target gene expression, at least in part, through direct interactions with basal transcription factors. ..
  33. Helguero L, Faulds M, Gustafsson J, Haldosén L. Estrogen receptors alfa (ERalpha) and beta (ERbeta) differentially regulate proliferation and apoptosis of the normal murine mammary epithelial cell line HC11. Oncogene. 2005;24:6605-16 pubmed
    ..We suggest that use of ERbeta agonists will be a useful addition in treatment of breast cancer, which, at present, is only aimed at inhibition of ERalpha. ..
  34. Nilsson M, Toftgard R, Bohm S. Activated Ha-Ras but not TPA induces transcription through binding sites for activating transcription factor 3/Jun and a novel nuclear factor. J Biol Chem. 1995;270:12210-8 pubmed
  35. Palaniswamy R, Teglund S, Lauth M, Zaphiropoulos P, Shimokawa T. Genetic variations regulate alternative splicing in the 5' untranslated regions of the mouse glioma-associated oncogene 1, Gli1. BMC Mol Biol. 2010;11:32 pubmed publisher
    ..Our findings implicate novel, genome-based mechanisms as regulators of the terminal events in the mouse HH signaling cascade. ..
  36. Islam K, Rabbani H, Larsson C, Sanders R, Smith C. Molecular cloning, characterization, and chromosomal localization of a human lymphoid tyrosine kinase related to murine Blk. J Immunol. 1995;154:1265-72 pubmed
    ..The homology at the protein level suggests that this kinase may be the human homologue of murine Blk. Expression of BLK in immature T cells suggests that BLK may play an important role in thymopoiesis. ..
  37. Smith C, Baskin B, Humire Greiff P, Zhou J, Olsson P, Maniar H, et al. Expression of Bruton's agammaglobulinemia tyrosine kinase gene, BTK, is selectively down-regulated in T lymphocytes and plasma cells. J Immunol. 1994;152:557-65 pubmed
    ..Our findings are compatible with a general expression of the BTK gene in hematopoietic cells, except in T lymphocytes and plasma cells, in which the transcript level is selectively down-regulated. ..
  38. Gearing K, Gottlicher M, Teboul M, Widmark E, Gustafsson J. Interaction of the peroxisome-proliferator-activated receptor and retinoid X receptor. Proc Natl Acad Sci U S A. 1993;90:1440-4 pubmed
    ..These results raise the possibility of convergence of the PPAR and retinoid-dependent signaling pathways on promoters containing PPRE-like responsive elements. ..
  39. Antonson P, Xanthopoulos K. Molecular cloning, sequence, and expression patterns of the human gene encoding CCAAT/enhancer binding protein alpha (C/EBP alpha). Biochem Biophys Res Commun. 1995;215:106-13 pubmed
    ..However, the expression was undetectable or very low in brain, kidney, thymus, testis and ovary. These results show that the human C/EBP alpha gene is expressed in a tissue restricted manner. ..
  40. Zaphiropoulos P, Toftgard R. cDNA cloning of a novel WD repeat protein mapping to the 9q22.3 chromosomal region. DNA Cell Biol. 1996;15:1049-56 pubmed
    ..Finally, Southern analysis showed a functional conservation of the WD repeat protein in various species. ..
  41. Knutsson Jenvert R, Holmberg Schiavone L. Characterization of the tRNA and ribosome-dependent pppGpp-synthesis by recombinant stringent factor from Escherichia coli. FEBS J. 2005;272:685-95 pubmed
    ..However, tRNA-saturation curves, performed at two different ribosome/stringent factor ratios and filter-binding assays, did not support this hypothesis. ..
  42. Pedersen J, Eggertsen G, Hellman U, Andersson U, Bjorkhem I. Molecular cloning and expression of cDNA encoding 3alpha,7alpha,12alpha-trihydroxy-5beta-chole stanoyl-CoA oxidase from rabbit liver. J Biol Chem. 1997;272:18481-9 pubmed
    ..Northern blot analysis revealed that the gene is transcribed in liver and kidney, and the major mRNA fraction had a size of approximately 2.6 kilobase pairs. ..
  43. Gafvels M, Olin M, Chowdhary B, Raudsepp T, Andersson U, Persson B, et al. Structure and chromosomal assignment of the sterol 12alpha-hydroxylase gene (CYP8B1) in human and mouse: eukaryotic cytochrome P-450 gene devoid of introns. Genomics. 1999;56:184-96 pubmed
    ..This is the first mammalian cytochrome P-450 gene reported to lack introns. The importance of this structural feature for evolution and gene regulation is discussed. ..
  44. Kumar R, Angelini S, Czene K, Sauroja I, Hahka Kemppinen M, Pyrhonen S, et al. BRAF mutations in metastatic melanoma: a possible association with clinical outcome. Clin Cancer Res. 2003;9:3362-8 pubmed
    ..13). Our results, besides confirming the high frequency of BRAF mutations in metastatic melanomas, also underline the potential importance of these mutations in disease outcome. ..
  45. Kumar R, Smeds J, Berggren P, Straume O, Rozell B, Akslen L, et al. A single nucleotide polymorphism in the 3'untranslated region of the CDKN2A gene is common in sporadic primary melanomas but mutations in the CDKN2B, CDKN2C, CDK4 and p53 genes are rare. Int J Cancer. 2001;95:388-93 pubmed
    ..0001). Finally, the sequence analysis of genomic DNA isolated from T cell lymphocytes of healthy individuals exhibited that the codon reported as last of exon 2 of the CDKN2C gene is rather the first codon of exon 3. ..
  46. Chandrasekar G, Vesterlund L, Hultenby K, Tapia P ez I, Kere J. The zebrafish orthologue of the dyslexia candidate gene DYX1C1 is essential for cilia growth and function. PLoS ONE. 2013;8:e63123 pubmed publisher
    ..Considering all these results, we propose an essential role for dyx1c1 in cilia growth and function...
  47. McEwan I, Dahlman Wright K, Ford J, Wright A. Functional interaction of the c-Myc transactivation domain with the TATA binding protein: evidence for an induced fit model of transactivation domain folding. Biochemistry. 1996;35:9584-93 pubmed
    ..These data support a model in which target factors induce or stabilize a structural conformation in activator proteins during transcriptional transactivation. ..
  48. Moreno P, Geny S, Pabon Y, Bergquist H, Zaghloul E, Rocha C, et al. Development of bis-locked nucleic acid (bisLNA) oligonucleotides for efficient invasion of supercoiled duplex DNA. Nucleic Acids Res. 2013;41:3257-73 pubmed publisher
    ..Although this first conceptual report does not address the utility of bisLNA for the targeting of DNA in a chromosomal context, it shows bisLNA as a promising candidate for interfering also with cellular genes. ..
  49. Tapia Paez I, Tammimies K, Massinen S, Roy A, Kere J. The complex of TFII-I, PARP1, and SFPQ proteins regulates the DYX1C1 gene implicated in neuronal migration and dyslexia. FASEB J. 2008;22:3001-9 pubmed publisher
    ..Furthermore, allelic differences in the promoter or 5' untranslated region of DYX1C1 may affect factor binding and thus regulation of the gene. ..
  50. Ristoff E, Augustson C, Geissler J, de Rijk T, Carlsson K, Luo J, et al. A missense mutation in the heavy subunit of gamma-glutamylcysteine synthetase gene causes hemolytic anemia. Blood. 2000;95:2193-6 pubmed
    ..Several family members with half-normal GCS activity in their erythrocytes were heterozygous for the mutation. ..
  51. Wiebel F, Steffensen K, Treuter E, Feltkamp D, Gustafsson J. Ligand-independent coregulator recruitment by the triply activatable OR1/retinoid X receptor-alpha nuclear receptor heterodimer. Mol Endocrinol. 1999;13:1105-18 pubmed
    ..Taken together, our results suggest a complex modulation of differentially induced transactivation by OR1/RXR coregulatory molecules. ..
  52. Zhao Y, Kacskovics I, Rabbani H, Hammarstrom L. Physical mapping of the bovine immunoglobulin heavy chain constant region gene locus. J Biol Chem. 2003;278:35024-32 pubmed
    ..A further sequence comparison revealed that the bovine IGHC genes display an extensive polymorphism leading to expression of multiple antibody allotypes. ..
  53. Grimm T, Teglund S, Tackels D, Sangiorgi E, Gurrieri F, Schwartz C, et al. Genomic organization and embryonic expression of Suppressor of Fused, a candidate gene for the split-hand/split-foot malformation type 3. FEBS Lett. 2001;505:13-7 pubmed
    ..SU(FU) was considered a candidate gene for the split-hand/split-foot malformation type 3 (SHFM3). However, no alterations in the SU(FU) gene were found in SHFM3 patients. ..