Experts and Doctors on mutation in Sweden


Locale: Sweden
Topic: mutation

Top Publications

  1. Abrahamson M, Islam M, Szpirer J, Szpirer C, Levan G. The human cystatin C gene (CST3), mutated in hereditary cystatin C amyloid angiopathy, is located on chromosome 20. Hum Genet. 1989;82:223-6 pubmed
    ..6 kb human specific fragment and that this fragment cosegregates with human chromosome 20. Therefore, the human cystatin C gene (CST3) was assigned to chromosome 20. ..
  2. Andersson S, Saebøe Larssen S, Lambertsson A, Merriam J, Jacobs Lorena M. A Drosophila third chromosome Minute locus encodes a ribosomal protein. Genetics. 1994;137:513-20 pubmed
    ..At the amino acid level, the overall identity is approximately 78% for all three species. This is only the second time that a Minute has been demonstrated to encode a ribosomal protein. ..
  3. Karsten S, Voskoboeva E, Tishkanina S, Pettersson U, Krasnopolskaja X, Bondeson M. Mutational spectrum of the iduronate-2-sulfatase (IDS) gene in 36 unrelated Russian MPS II patients. Hum Genet. 1998;103:732-5 pubmed
    ..Of the 25 different mutations, 15 are novel and unique. Most of the missense mutations result in intermediate or severe phenotypes. ..
  4. Holmstrom A, Olsson J, Cherepanov P, Maier E, Nordfelth R, Pettersson J, et al. LcrV is a channel size-determining component of the Yop effector translocon of Yersinia. Mol Microbiol. 2001;39:620-32 pubmed
    ..The size of the channel correlated with the ability to translocate Yop effectors into host cells. We suggest that LcrV is a size-determining structural component of the Yop translocon. ..
  5. Båvner A, Johansson L, Toresson G, Gustafsson J, Treuter E. A transcriptional inhibitor targeted by the atypical orphan nuclear receptor SHP. EMBO Rep. 2002;3:478-84 pubmed
    ..We suggest histone acetyltransferases and histones as targets for EID1 action and propose that SHP inhibition of transcription involves EID1 antagonism of CBP/p300-dependent coactivator functions. ..
  6. Ruas J, Poellinger L, Pereira T. Functional analysis of hypoxia-inducible factor-1 alpha-mediated transactivation. Identification of amino acid residues critical for transcriptional activation and/or interaction with CREB-binding protein. J Biol Chem. 2002;277:38723-30 pubmed
    ..These mutations also affected intranuclear redistribution of HIF-1 alpha in the presence of CBP, indicating that the integrity of the C-TAD is critical for intracellular localization of mouse HIF-1 alpha. ..
  7. Sjöberg M, Garoff H. Interactions between the transmembrane segments of the alphavirus E1 and E2 proteins play a role in virus budding and fusion. J Virol. 2003;77:3441-50 pubmed
    ..In addition, the SFV/E1(11L) mutant was completely deficient in budding, which may reflect an inability to form multivalent NC interactions at the PM. ..
  8. Broomand A, Mannikko R, Larsson H, Elinder F. Molecular movement of the voltage sensor in a K channel. J Gen Physiol. 2003;122:741-8 pubmed
    ..Our data suggest that S4 is located close to the pore domain in a neighboring subunit. Our data also place constraints on possible models for S4 movement and are not compatible with a recently proposed KvAP model. ..
  9. Leipuviene R, Qian Q, Bjork G. Formation of thiolated nucleosides present in tRNA from Salmonella enterica serovar Typhimurium occurs in two principally distinct pathways. J Bacteriol. 2004;186:758-66 pubmed

More Information

Publications296 found, 100 shown here

  1. Razafimandimbison S, Kellogg E, Bremer B. Recent origin and phylogenetic utility of divergent ITS putative pseudogenes: a case study from Naucleeae (Rubiaceae). Syst Biol. 2004;53:177-92 pubmed
    ..fagifolia and none from H. cordifolia and M. rubrostipulata, which suggests that PCR selection is occurring and/or the presumed functional alleles are located at minor loci (with few ribosomal DNA copies)...
  2. Lind U, Nilsson T, McPheat J, Strömstedt P, Bamberg K, Balendran C, et al. Identification of the human ApoAV gene as a novel RORalpha target gene. Biochem Biophys Res Commun. 2005;330:233-41 pubmed
    ..Together, these results suggest a novel mechanism whereby RORalpha modulates lipid metabolism and implies RORalpha as a potential target for the treatment of dyslipidemia and atherosclerosis. ..
  3. Einbeigi Z, Bergman A, Meis Kindblom J, Flodin A, Bjursell C, Martinsson T, et al. Occurrence of both breast and ovarian cancer in a woman is a marker for the BRCA gene mutations: a population-based study from western Sweden. Fam Cancer. 2007;6:35-41 pubmed
    ..These women and their families might therefore be considered for mutation screening after appropriate genetic counselling. ..
  4. Udekwu K, Wagner E. Sigma E controls biogenesis of the antisense RNA MicA. Nucleic Acids Res. 2007;35:1279-88 pubmed
    ..Thus, MicA is part of the sigma(E) regulon and downregulates its target gene, ompA, probably to alleviate membrane stress. ..
  5. Rönnbäck A, Zhu S, Dillner K, Aoki M, Lilius L, Naslund J, et al. Progressive neuropathology and cognitive decline in a single Arctic APP transgenic mouse model. Neurobiol Aging. 2011;32:280-92 pubmed publisher
  6. Hadjab Lallemend S, Wallis K, van Hogerlinden M, Dudazy S, Nordstrom K, Vennstrom B, et al. A mutant thyroid hormone receptor alpha1 alters hippocampal circuitry and reduces seizure susceptibility in mice. Neuropharmacology. 2010;58:1130-9 pubmed publisher
    ..This study is, to our knowledge, the first to show an effect of maternal and early postnatal hypothyroidism via TR alpha 1 on the development of GABAergic neurotransmission and susceptibility to epileptic seizures. ..
  7. Koskiniemi S, Hughes D, Andersson D. Effect of translesion DNA polymerases, endonucleases and RpoS on mutation rates in Salmonella typhimurium. Genetics. 2010;185:783-95 pubmed publisher
  8. Nita I, Genel F, Nilsson S, Smart J, Truedsson L, Choo S, et al. Molecular characterization of two novel cases of complete complement inhibitor Factor I deficiency. Mol Immunol. 2011;48:1068-72 pubmed publisher
    ..This report describes the molecular and functional consequences of two novel mutations of FI, providing a unique insight into the pathogenesis of complete FI deficiency in these patients. ..
  9. Arioz C, Ye W, Bakali A, Ge C, Liebau J, Götzke H, et al. Anionic lipid binding to the foreign protein MGS provides a tight coupling between phospholipid synthesis and protein overexpression in Escherichia coli. Biochemistry. 2013;52:5533-44 pubmed publisher
    ..coli. By this mechanism, cells can produce more membrane surface in order to accommodate excessively produced MGS molecules, which results in an interdependent cycle of lipid and MGS protein synthesis. ..
  10. Cymer F, von Heijne G. Cotranslational folding of membrane proteins probed by arrest-peptide-mediated force measurements. Proc Natl Acad Sci U S A. 2013;110:14640-5 pubmed publisher
    ..Our findings pinpoint the earliest steps of tertiary structure formation and open up possibilities to study the cotranslational folding of polytopic membrane proteins. ..
  11. Pathak S, Meng W, Nandy S, Ping J, Bisgin A, Helmfors L, et al. Radiation and SN38 treatments modulate the expression of microRNAs, cytokines and chemokines in colon cancer cells in a p53-directed manner. Oncotarget. 2015;6:44758-80 pubmed publisher
    ..These miRNAs have the potential for use in colon cancer therapy as they are related to p53, pro- or anti-inflammatory cyto- or chemokines after the radiation and SN38 treatment. ..
  12. Visco Comandini U, Yun Z, Paganelli R, Orlandi P, Salotti A, Johansson B, et al. HIV-1 nef mutations and clinical long-term nonprogression. A molecular epidemiology study. J Hum Virol. 1998;1:320-7 pubmed
    ..Nef gene defects appear uncommon in both Swedish and Italian LTNP, although the presence of a valine/isoleucine at position 11 is statistically associated with a lower probability to progress to disease. ..
  13. Bjorkman J, Nagaev I, Berg O, Hughes D, Andersson D. Effects of environment on compensatory mutations to ameliorate costs of antibiotic resistance. Science. 2000;287:1479-82 pubmed
    ..These results suggest that bacterial evolution to reduce the costs of antibiotic resistance can take different trajectories within and outside a host. ..
  14. Carlsson P, Mahlapuu M. Forkhead transcription factors: key players in development and metabolism. Dev Biol. 2002;250:1-23 pubmed
  15. Rudhe C, Clifton R, Whelan J, Glaser E. N-terminal domain of the dual-targeted pea glutathione reductase signal peptide controls organellar targeting efficiency. J Mol Biol. 2002;324:577-85 pubmed
    ..These results suggest a domain structure for the dual-targeting peptide of pGR and the existence of domains controlling organellar import efficiency therein. ..
  16. Stahl A, Nilsson S, Lundberg P, Bhushan S, Biverståhl H, Moberg P, et al. Two novel targeting peptide degrading proteases, PrePs, in mitochondria and chloroplasts, so similar and still different. J Mol Biol. 2005;349:847-60 pubmed
    ..In conclusion, despite the high sequence identity between AtPrePI and AtPrePII and similarities in cleavage specificities, cleavage site recognition differs for both proteases and is context and structure dependent. ..
  17. Jansson K, Warringer J, Farewell A, Park H, Hoe K, Kim D, et al. The tumor suppressor homolog in fission yeast, myh1(+), displays a strong interaction with the checkpoint gene rad1(+). Mutat Res. 2008;644:48-55 pubmed publisher
    ..Our results implicate fission yeast Myh1 in repair of a wider range of DNA damage than previously thought, and functionally link it to the checkpoint pathway. ..
  18. Faxén M, Plumbridge J, Isaksson L. Codon choice and potential complementarity between mRNA downstream of the initiation codon and bases 1471-1480 in 16S ribosomal RNA affects expression of glnS. Nucleic Acids Res. 1991;19:5247-51 pubmed
    ..We also give evidence that supports the idea that the presence of rare codons near the beginning of the mRNA can affect expression. ..
  19. Linder C, Carlson K, Albertioni F, Soderstrom J, Pahlson C. A late exclusion of bacteriophage T4 can be suppressed by Escherichia coli GroEL or Rho. Genetics. 1994;137:613-25 pubmed
    ..Since both transcription-termination-proficient and transcription-termination-deficient Rho suppressed, the results raise the possibility that Rho has a role during T4 development not directly involving transcription regulation. ..
  20. Cervin C, Orho Melander M, Ridderstrale M, Lehto M, Barg S, Groop L, et al. Characterization of a naturally occurring mutation (L107I) in the HNF1 alpha (MODY3) gene. Diabetologia. 2002;45:1703-8 pubmed
    ..Our results suggest that the L107I substitution represents a MODY3 mutation which impairs beta-cell function by a loss-of-function mechanism. ..
  21. Singha N, Vlamis Gardikas A, Holmgren A. Real-time kinetics of the interaction between the two subunits, Escherichia coli thioredoxin and gene 5 protein of phage T7 DNA polymerase. J Biol Chem. 2003;278:21421-8 pubmed
    ..2 kcal.m-1) and entropy (TDeltaS =-8.4 kcal.m-1) upon formation of the complex suggested that the interaction is driven by an increase in enthalpy and opposed by a decrease in entropy. ..
  22. Stenberg F, Chovanec P, Maslen S, Robinson C, Ilag L, von Heijne G, et al. Protein complexes of the Escherichia coli cell envelope. J Biol Chem. 2005;280:34409-19 pubmed
    ..coli membrane protein complexes during different growth conditions and in different mutant backgrounds. ..
  23. Gonzalez de Valdivia E, Isaksson L. Abortive translation caused by peptidyl-tRNA drop-off at NGG codons in the early coding region of mRNA. FEBS J. 2005;272:5306-16 pubmed
    ..This does not happen if these codons are located further down in the mRNA at position +7, or later. ..
  24. Lord A, Kalimo H, Eckman C, Zhang X, Lannfelt L, Nilsson L. The Arctic Alzheimer mutation facilitates early intraneuronal Abeta aggregation and senile plaque formation in transgenic mice. Neurobiol Aging. 2006;27:67-77 pubmed
    ..We conclude that the Arctic mutation causes AD by facilitating amyloidosis through early accumulation of intracellular Abeta aggregates in association with a rapid onset of senile plaque deposition. ..
  25. Kozlova N, Braga J, Lundgren J, Rino J, Young P, Carmo Fonseca M, et al. Studies on the role of NonA in mRNA biogenesis. Exp Cell Res. 2006;312:2619-30 pubmed
    ..Our data suggest that NonA facilitates the intranuclear mobility of mRNP particles. ..
  26. Johansson D, Macao B, Sandberg A, Härd T. SEA domain autoproteolysis accelerated by conformational strain: mechanistic aspects. J Mol Biol. 2008;377:1130-43 pubmed publisher
    ..The energetics of this coupled folding and autoproteolysis mechanism is accounted for in an accompanying article. ..
  27. Axäng C, Rauthan M, Hall D, Pilon M. Developmental genetics of the C. elegans pharyngeal neurons NSML and NSMR. BMC Dev Biol. 2008;8:38 pubmed publisher
    ..Together with the guidance of the M2 neuron, this is the second case of a pharyngeal neuron establishing one of its processes using an unexpected mechanism. ..
  28. Liu M, Sjogren A, Karlsson C, Ibrahim M, Andersson K, Olofsson F, et al. Targeting the protein prenyltransferases efficiently reduces tumor development in mice with K-RAS-induced lung cancer. Proc Natl Acad Sci U S A. 2010;107:6471-6 pubmed publisher
    ..These data shed light on the biochemical and therapeutic importance of FTase and suggest that simultaneous inhibition of FTase and GGTase-I could be useful in cancer therapeutics. ..
  29. Grönlund M, Honarvar A, Andersson S, Moslemi A, Oldfors A, Holme E, et al. Ophthalmological findings in children and young adults with genetically verified mitochondrial disease. Br J Ophthalmol. 2010;94:121-7 pubmed publisher
    ..We recommend that an ophthalmological examination, including ERG, be performed on all children and adolescents who are suspected of having a mitochondrial disease. ..
  30. Mengelbier L, Karlsson J, Lindgren D, Øra I, Isaksson M, Frigyesi I, et al. Deletions of 16q in Wilms tumors localize to blastemal-anaplastic cells and are associated with reduced expression of the IRXB renal tubulogenesis gene cluster. Am J Pathol. 2010;177:2609-21 pubmed publisher
    ..A disturbed balance between tubular differentiation and self-renewal of anaplastic-blastic elements may thus be one mechanism linking 16q deletion to adverse outcome in Wilms tumor. ..
  31. Crona M, Moffatt C, Friedrich N, Hofer A, Sjoberg B, Edgell D. Assembly of a fragmented ribonucleotide reductase by protein interaction domains derived from a mobile genetic element. Nucleic Acids Res. 2011;39:1381-9 pubmed publisher
  32. Sofou K, Moslemi A, Kollberg G, Bjarnadottir I, Oldfors A, Nennesmo I, et al. Phenotypic and genotypic variability in Alpers syndrome. Eur J Paediatr Neurol. 2012;16:379-89 pubmed publisher
    ..The phenotype is different depending on the presence or absence of POLG1 mutations. ..
  33. Chumnanpuen P, Zhang J, Nookaew I, Nielsen J. Integrated analysis of transcriptome and lipid profiling reveals the co-influences of inositol-choline and Snf1 in controlling lipid biosynthesis in yeast. Mol Genet Genomics. 2012;287:541-54 pubmed publisher
    ..The analysis showed the strength of using both transcriptome and lipid profiling analysis for mapping the co-influence of inositol-choline and Snf1 on phospholipid metabolism...
  34. Andersson L, Larhammar M, Memic F, Wootz H, Schwochow D, Rubin C, et al. Mutations in DMRT3 affect locomotion in horses and spinal circuit function in mice. Nature. 2012;488:642-6 pubmed publisher
    ..The DMRT3 mutation has had a major effect on the diversification of the domestic horse, as the altered gait characteristics of a number of breeds apparently require this mutation...
  35. Moverare Skrtic S, Börjesson A, Farman H, Sjögren K, Windahl S, Lagerquist M, et al. The estrogen receptor antagonist ICI 182,780 can act both as an agonist and an inverse agonist when estrogen receptor ? AF-2 is modified. Proc Natl Acad Sci U S A. 2014;111:1180-5 pubmed publisher
    ..We propose that ER? lacking AF-2 is constitutively active in the absence of ligand in the growth plate, enabling ICI to act as an inverse agonist. ..
  36. Memic F, Knoflach V, Sadler R, Tegerstedt G, Sundström E, Guillemot F, et al. Ascl1 Is Required for the Development of Specific Neuronal Subtypes in the Enteric Nervous System. J Neurosci. 2016;36:4339-50 pubmed publisher
    ..Enteric nervous system progenitor cells may therefore possess strong intrinsic control over their specification at the initial waves of neurogenesis. ..
  37. Maes A, Gracia C, Innocenti N, Zhang K, Aurell E, Hajnsdorf E. Landscape of RNA polyadenylation in E. coli. Nucleic Acids Res. 2017;45:2746-2756 pubmed publisher
    ..Overall our results shed new light on the broad spectrum of action of polyadenylation on gene expression and demonstrate the importance of poly(A) dependent degradation to remove structured RNA fragments. ..
  38. Kuang W, Xu H, Vachon P, Engvall E. Disruption of the lama2 gene in embryonic stem cells: laminin alpha 2 is necessary for sustenance of mature muscle cells. Exp Cell Res. 1998;241:117-25 pubmed
  39. Rasmussen M, M ller H, Bj rck L. Protein GRAB of streptococcus pyogenes regulates proteolysis at the bacterial surface by binding alpha2-macroglobulin. J Biol Chem. 1999;274:15336-44 pubmed
    ..This regulation of proteolytic activity at the bacterial surface should affect the host-microbe relation during S. pyogenes infections...
  40. Holmfeldt P, Larsson N, Segerman B, Howell B, Morabito J, Cassimeris L, et al. The catastrophe-promoting activity of ectopic Op18/stathmin is required for disruption of mitotic spindles but not interphase microtubules. Mol Biol Cell. 2001;12:73-83 pubmed
    ..These results demonstrate that specific Op18 derivatives with defined activity-profiles can be used as probes to distinguish interphase and mitotic MTs. ..
  41. Berggård K, Johnsson E, Morfeldt E, Persson J, Stålhammar Carlemalm M, Lindahl G. Binding of human C4BP to the hypervariable region of M protein: a molecular mechanism of phagocytosis resistance in Streptococcus pyogenes. Mol Microbiol. 2001;42:539-51 pubmed
    ..This study provides the first molecular insight into the mechanisms by which the HVR of an M protein confers phagocytosis resistance. ..
  42. Hansson T, Adlercreutz P. Enhanced transglucosylation/hydrolysis ratio of mutants of Pyrococcus furiosus beta-glucosidase: effects of donor concentration, water content, and temperature on activity and selectivity in hexanol. Biotechnol Bioeng. 2001;75:656-65 pubmed
    ..In contrast to CelB wild-type, the F426Y mutant had transferase activity as low as a(w) = 0.29. Surprisingly, the S value increased with increasing water activity up to a(w) = 0.92. At still higher water content the S value decreased. ..
  43. Persson A, Jacobsson K, Frykberg L, Johansson K, Poumarat F. Variable surface protein Vmm of Mycoplasma mycoides subsp. mycoides small colony type. J Bacteriol. 2002;184:3712-22 pubmed
  44. Lantto J, Ohlin M. Functional consequences of insertions and deletions in the complementarity-determining regions of human antibodies. J Biol Chem. 2002;277:45108-14 pubmed
    ..We have thus shown that single-codon insertions and deletions can efficiently be utilized to expand structure and sequence space of the antigen-binding site beyond what is encoded by the germline gene repertoire. ..
  45. Brännvall M, Pettersson B, Kirsebom L. Importance of the +73/294 interaction in Escherichia coli RNase P RNA substrate complexes for cleavage and metal ion coordination. J Mol Biol. 2003;325:697-709 pubmed
    ..The possibility that the residue at -1 binds to a specific binding surface/pocket in M1 RNA is discussed. Our data finally rationalize why the preferred residue at position 294 in M1 RNA is U. ..
  46. Hou S, Ryk C, Kannio A, Angelini S, Fält S, Nyberg F, et al. Influence of common XPD and XRCC1 variant alleles on p53 mutations in lung tumors. Environ Mol Mutagen. 2003;41:37-42 pubmed
    ..We conclude that the XPD variant alleles may be associated with an increased frequency of smoking-related p53 mutations in lung tumors, presumably due to reduced DNA repair proficiency. ..
  47. Almqvist J, Huang Y, Hovmöller S, Wang D. Homology modeling of the human microsomal glucose 6-phosphate transporter explains the mutations that cause the glycogen storage disease type Ib. Biochemistry. 2004;43:9289-97 pubmed
    ..coli homologue, namely, the substrate binds at the N- and C-terminal domain interface and is then transported across the membrane via a rocker-switch type of movement of the two domains. ..
  48. Uramoto H, Hackzell A, Wetterskog D, Ballági A, Izumi H, Funa K. pRb, Myc and p53 are critically involved in SV40 large T antigen repression of PDGF beta-receptor transcription. J Cell Sci. 2004;117:3855-65 pubmed
    ..However, LT binds the promoter in the absence of pRb and p53 in Saos-2 cells stably expressing LT. These results suggest that LT binds the promoter and interferes with NF-Y and Sp1 to repress it in the presence of Myc, pRb and p53. ..
  49. Lundström A, Gallio M, Englund C, Steneberg P, Hemphälä J, Aspenstrom P, et al. Vilse, a conserved Rac/Cdc42 GAP mediating Robo repulsion in tracheal cells and axons. Genes Dev. 2004;18:2161-71 pubmed
    ..These results together with genetic interaction experiments with robo, vilse, and rac mutants suggest a mechanism whereby Robo repulsion is mediated by the localized inactivation of Rac through Vilse. ..
  50. Panagopoulos I, Mertens F, Isaksson M, Mandahl N. Absence of mutations of the BRAF gene in malignant melanoma of soft parts (clear cell sarcoma of tendons and aponeuroses). Cancer Genet Cytogenet. 2005;156:74-6 pubmed
    ..Our data further emphasize that MMSP and conventional malignant melanoma develop through different genetic pathways...
  51. Croitoru V, Bucheli Witschel M, Isaksson L. In vivo involvement of mutated initiation factor IF1 in gene expression control at the translational level. FEBS Lett. 2005;579:995-1000 pubmed
    ..One cold-sensitive IF1 mutant shows a general overexpression, in particular at low temperatures, of both reporter genes at the protein but not mRNA level. ..
  52. Thorsen M, Lagniel G, Kristiansson E, Junot C, Nerman O, Labarre J, et al. Quantitative transcriptome, proteome, and sulfur metabolite profiling of the Saccharomyces cerevisiae response to arsenite. Physiol Genomics. 2007;30:35-43 pubmed
  53. Bröms J, Francis M, Forsberg A. Diminished LcrV secretion attenuates Yersinia pseudotuberculosis virulence. J Bacteriol. 2007;189:8417-29 pubmed
  54. Rohlin A, Wernersson J, Engwall Y, Wiklund L, Björk J, Nordling M. Parallel sequencing used in detection of mosaic mutations: comparison with four diagnostic DNA screening techniques. Hum Mutat. 2009;30:1012-20 pubmed publisher
    ..Parallel sequencing seems to be the ultimate choice but the possibilities to use this technique is today limited by its complexity, economics, and availability of instruments. ..
  55. Sehat B, Tofigh A, Lin Y, Trocme E, Liljedahl U, Lagergren J, et al. SUMOylation mediates the nuclear translocation and signaling of the IGF-1 receptor. Sci Signal. 2010;3:ra10 pubmed publisher
    ..Thus, we demonstrate a SUMOylation-mediated mechanism of IGF-1R signaling that has potential implications for gene regulation. ..
  56. Pfirrmann T, Heessen S, Omnus D, Andréasson C, Ljungdahl P. The prodomain of Ssy5 protease controls receptor-activated proteolysis of transcription factor Stp1. Mol Cell Biol. 2010;30:3299-309 pubmed publisher
    ..Our results define a regulatory mechanism that is novel for eukaryotic proteases functioning within cells. ..
  57. Zainuddin N, Murray F, Kanduri M, Gunnarsson R, Smedby K, Enblad G, et al. TP53 Mutations are infrequent in newly diagnosed chronic lymphocytic leukemia. Leuk Res. 2011;35:272-4 pubmed publisher
    ..Our findings imply that TP53 mutations are rare at CLL onset and instead may arise during disease progression. ..
  58. Andersson L, Axelsson J, Dubielzig R, Lindgren G, Ekesten B. Multiple congenital ocular anomalies in Icelandic horses. BMC Vet Res. 2011;7:21 pubmed publisher
    ..For that reason we have examined another horse breed, the Icelandic horse, which is historically quite divergent from Rocky Mountain horses...
  59. Mitternacht S, Staneva I, Härd T, Irbäck A. Monte Carlo study of the formation and conformational properties of dimers of A?42 variants. J Mol Biol. 2011;410:357-67 pubmed publisher
    ..Our findings hint at reorganization of this part of the molecule as a potentially critical step in A? aggregation. ..
  60. Ren W, Lagerstedt K, Grimsholm O, Stern A, Sun J, Fang Y, et al. Uncoupling of natural IgE production and CD23 surface expression levels. PLoS ONE. 2013;8:e62851 pubmed publisher
  61. Grahn A, Bengtson P, Eklund E, Asin Cayuela J. A novel mutation on the transferrin gene abolishes one N-glycosylation site and alters the pattern of transferrin isoforms, mimicking that observed after excessive alcohol consumption. Clin Biochem. 2016;49:511-513 pubmed publisher
    ..N432. The presence of this genetic variant has to be kept in mind when interpreting TF isoform patterns. ..
  62. Fundin B, Silos Santiago I, Ernfors P, Fagan A, Aldskogius H, DeChiara T, et al. Differential dependency of cutaneous mechanoreceptors on neurotrophins, trk receptors, and P75 LNGFR. Dev Biol. 1997;190:94-116 pubmed
    ..In the context of these findings, indications of competitive and suppressive interactions that appear to regulate the balance of innervation density among the various sets of innervation were evident. ..
  63. Folkesson A, Advani A, Sukupolvi S, Pfeifer J, Normark S, L fdahl S. Multiple insertions of fimbrial operons correlate with the evolution of Salmonella serovars responsible for human disease. Mol Microbiol. 1999;33:612-22 pubmed
    ..coli. It is suggested that the multiple insertions of fimbrial genes that have occurred in the cs7 region have contributed to phylogenetic diversity and host adaptation of Salmonella spp...
  64. Uv A, Roth P, Xylourgidis N, Wickberg A, Cantera R, Samakovlis C. members only encodes a Drosophila nucleoporin required for rel protein import and immune response activation. Genes Dev. 2000;14:1945-57 pubmed
    ..Our results demonstrate that distinct nuclear import events require different nucleoporins in vivo and suggest a regulatory role for mbo in signal transduction. ..
  65. Jornvall H, Blokzijl A, ten Dijke P, Ibanez C. The orphan receptor serine/threonine kinase ALK7 signals arrest of proliferation and morphological differentiation in a neuronal cell line. J Biol Chem. 2001;276:5140-6 pubmed
    ..These results indicate that ALK7 may participate in the control of proliferation of neuronal precursors and morphological differentiation of postmitotic neurons. ..
  66. Forsberg H, Ljungdahl P. Genetic and biochemical analysis of the yeast plasma membrane Ssy1p-Ptr3p-Ssy5p sensor of extracellular amino acids. Mol Cell Biol. 2001;21:814-26 pubmed
    ..These results reveal the dynamic nature of the amino acid-initiated signals transduced by the SPS sensor. ..
  67. Mellroth P, Karlsson J, Steiner H. A scavenger function for a Drosophila peptidoglycan recognition protein. J Biol Chem. 2003;278:7059-64 pubmed
    ..Furthermore, a sequence homology comparison with phage T7 lysozyme, also an N-acetylmuramoyl-l-alanine amidase, shows that as many as six of the Drosophila PGRPs could belong to this class of proteins. ..
  68. Holm P, Rodriguez F, Kresse A, Canals J, Silos Santiago I, Arenas E. Crucial role of TrkB ligands in the survival and phenotypic differentiation of developing locus coeruleus noradrenergic neurons. Development. 2003;130:3535-45 pubmed
    ..In summary, our findings suggest that, unlike NT3 and GDNF, TrkB ligands are required and sufficient to promote the development of central noradrenergic neurons. ..
  69. Bladh L, Liden J, Pazirandeh A, Rafter I, Dahlman Wright K, Nilsson S, et al. Identification of target genes involved in the antiproliferative effect of glucocorticoids reveals a role for nuclear factor-(kappa)B repression. Mol Endocrinol. 2005;19:632-43 pubmed
    ..These results demonstrate that GC-mediated inhibition of NF-(kappa)B is an important mechanism in the antiproliferative response to GCs. ..
  70. Aifa S, Aydin J, Nordvall G, Lundstrom I, Svensson S, Hermanson O. A basic peptide within the juxtamembrane region is required for EGF receptor dimerization. Exp Cell Res. 2005;302:108-14 pubmed
  71. Tiensuu T, Larsen M, Vernersson E, Tuck S. lin-1 has both positive and negative functions in specifying multiple cell fates induced by Ras/MAP kinase signaling in C. elegans. Dev Biol. 2005;286:338-51 pubmed
    ..We also show that lin-1 apparently has both positive and negative functions during the specification of the fates of other cells in the worm requiring Ras/MAP kinase signaling. ..
  72. Grahn E, Novotny M, Jakobsson E, Gustafsson A, Grehn L, Olin B, et al. New crystal structures of human glutathione transferase A1-1 shed light on glutathione binding and the conformation of the C-terminal helix. Acta Crystallogr D Biol Crystallogr. 2006;62:197-207 pubmed
    ..Different conformations of the C-terminal regions were observed in the apo states of the two monomers, which suggests that cooperativity could play a role in the activity of the enzyme. ..
  73. Rosengren K, Daly N, Fornander L, Jönsson L, Shirafuji Y, Qu X, et al. Structural and functional characterization of the conserved salt bridge in mammalian paneth cell alpha-defensins: solution structures of mouse CRYPTDIN-4 and (E15D)-CRYPTDIN-4. J Biol Chem. 2006;281:28068-78 pubmed
    ..These findings support the conclusion that the function of the conserved salt bridge in Crp4 is not linked to bactericidal activity or proteolytic stability of the mature peptide. ..
  74. Tsarouhas V, Senti K, Jayaram S, Tiklová K, Hemphälä J, Adler J, et al. Sequential pulses of apical epithelial secretion and endocytosis drive airway maturation in Drosophila. Dev Cell. 2007;13:214-25 pubmed
    ..The coordination of luminal matrix secretion and endocytosis may be a general mechanism in tubular organ morphogenesis and maturation. ..
  75. Gustafsson E, Haas P, Walse B, Hijnen M, Furebring C, Ohlin M, et al. Identification of conformational epitopes for human IgG on Chemotaxis inhibitory protein of Staphylococcus aureus. BMC Immunol. 2009;10:13 pubmed publisher
    ..This information has implications for the development of an effective anti-inflammatory agent based on a functional CHIPS molecule with low interaction with human IgG. ..
  76. Jin S, Agerman K, Kolmodin K, Gustafsson E, Dahlqvist C, Jureus A, et al. Evidence for dimeric BACE-mediated APP processing. Biochem Biophys Res Commun. 2010;393:21-7 pubmed publisher
    ..In sum, our data suggest that two different active site mutants can complement each other in a partially functional BACE dimer and mediate APP processing. ..
  77. Jonsson L, Ljunggren E, Bremer A, Pedersen C, Landen M, Thuresson K, et al. Mutation screening of melatonin-related genes in patients with autism spectrum disorders. BMC Med Genomics. 2010;3:10 pubmed publisher
    ..However, further studies of the novel variants identified in this study are warranted to shed light on their potential role in the pathophysiology of these disorders. ..
  78. Kohn L, Kohl S, Bowne S, Sullivan L, Kellner U, Daiger S, et al. PITPNM3 is an uncommon cause of cone and cone-rod dystrophies. Ophthalmic Genet. 2010;31:139-40 pubmed publisher
    ..Four sequence variants, two missence mutations and two intronic changes were identified in the screen. Thus, mutations in PITPNM3 do not appear to be a major cause of cone or cone-rod dystrophy. ..
  79. Leiding T, Wang J, Martinsson J, Degrado W, Arsk ld S. Proton and cation transport activity of the M2 proton channel from influenza A virus. Proc Natl Acad Sci U S A. 2010;107:15409-14 pubmed publisher
  80. Sj berg B, Torrents E. Shift in ribonucleotide reductase gene expression in Pseudomonas aeruginosa during infection. Infect Immun. 2011;79:2663-9 pubmed publisher
    ..An extended understanding of the pathogenicity and physiology of P. aeruginosa will be important for the development of novel drugs against infections in cystic fibrosis patients...
  81. Ekvall S, Hagenäs L, Allanson J, Anneren G, Bondeson M. Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype. Am J Med Genet A. 2011;155A:1217-24 pubmed publisher
    ..Taken together, the results suggest that co-occurrence of mutations or modifying loci in the RAS-MAPK pathway may contribute to the clinical variability observed among NS patients. ..
  82. Forsberg L, Rasi C, Razzaghian H, Pakalapati G, Waite L, Thilbeault K, et al. Age-related somatic structural changes in the nuclear genome of human blood cells. Am J Hum Genet. 2012;90:217-28 pubmed publisher
    ..Our work might also help to explain the cause of an age-related reduction in the number of cell clones in the blood; such a reduction is one of the hallmarks of immunosenescence...
  83. Ohlsson M, Hedberg C, Brådvik B, Lindberg C, Tajsharghi H, Danielsson O, et al. Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin. Brain. 2012;135:1682-94 pubmed publisher
    ..The typical histopathological features with prominent myofibrillar lesions and inclusions in muscle and respiratory failure early in the clinical course should be incentives for analysis of TTN mutations...
  84. Shen J, van den Bogaard E, Kouwenhoven E, Bykov V, Rinne T, Zhang Q, et al. APR-246/PRIMA-1(MET) rescues epidermal differentiation in skin keratinocytes derived from EEC syndrome patients with p63 mutations. Proc Natl Acad Sci U S A. 2013;110:2157-62 pubmed publisher
  85. Cheng J, Sun X, Li W, Liu G, Tu Y, Tang Y. Molecular switches of the κ opioid receptor triggered by 6'-GNTI and 5'-GNTI. Sci Rep. 2016;6:18913 pubmed publisher
    ..In the simulation of the κOR-5'-GNTI system, it is revealed that 5'-GNTI can stabilize TM6 in the inactive state form. In addition, the kink of TM7 is stabilized by a hydrogen bond between S324(7.47) and the residue V69(1.42) on TM1. ..
  86. Ygberg S, Naess K, Eriksson M, Stranneheim H, Lesko N, Barbaro M, et al. Biotin and Thiamine Responsive Basal Ganglia Disease--A vital differential diagnosis in infants with severe encephalopathy. Eur J Paediatr Neurol. 2016;20:457-61 pubmed publisher
    ..This report highlights the importance of considering biotin and thiamine treatment also in a European infant born to non-consanguineous parents, who presents with symptoms of acute/subacute encephalopathy. ..
  87. Hansson M, Hederstedt L. Cloning and characterization of the Bacillus subtilis hemEHY gene cluster, which encodes protoheme IX biosynthetic enzymes. J Bacteriol. 1992;174:8081-93 pubmed
    ..From these combined results we conclude that the hemEHY gene cluster encodes enzymes for the synthesis of protoheme IX from uroporphyrinogen III and probably constitutes an operon. ..
  88. Bilgin N, Claesens F, Pahverk H, Ehrenberg M. Kinetic properties of Escherichia coli ribosomes with altered forms of S12. J Mol Biol. 1992;224:1011-27 pubmed
    ..We use our in vitro findings to discuss the in vivo physiology of these mutants as well as mechanistic features of E. coli translation. ..
  89. Jonsson A, Andersson L, Rask L. A cellular and functional split in the DRw8 haplotype is due to a single amino acid replacement (DR beta ser 57- asp 57). Immunogenetics. 1989;29:308-16 pubmed
    ..However, the comparisons also showed that it was not possible from sequence similarities to divide the DR beta genes into two or more distinct allelic series. ..
  90. Aberg A, Hahne S, Karlsson M, Larsson A, Ormo M, Ahgren A, et al. Evidence for two different classes of redox-active cysteines in ribonucleotide reductase of Escherichia coli. J Biol Chem. 1989;264:12249-52 pubmed
    ..coli ribonucleotide reductase suggested previously (Lin, A.-N. I., Ashley, G. W., and Stubbe, J. (1987) Biochemistry 26, 6905-6909). ..
  91. Englund C, Uv A, Cantera R, Mathies L, Krasnow M, Samakovlis C. adrift, a novel bnl-induced Drosophila gene, required for tracheal pathfinding into the CNS. Development. 1999;126:1505-14 pubmed
  92. Johansson L, Båvner A, Thomsen J, Farnegardh M, Gustafsson J, Treuter E. The orphan nuclear receptor SHP utilizes conserved LXXLL-related motifs for interactions with ligand-activated estrogen receptors. Mol Cell Biol. 2000;20:1124-33 pubmed