Genomes and Genes
Experts and Doctors on mutation in Uppsala, Sweden
Locale: Uppsala, Sweden
Publications166 found, 100 shown here
- Ochala J, Gokhin D, Penisson Besnier I, Quijano Roy S, Monnier N, Lunardi J, et al. Congenital myopathy-causing tropomyosin mutations induce thin filament dysfunction via distinct physiological mechanisms. Hum Mol Genet. 2012;21:4473-85 pubmed..Therefore, administration of troponin activators may constitute a promising therapeutic approach in the future. ..
- Holmborn K, Habicher J, Kasza Z, Eriksson A, Filipek Gorniok B, Gopal S, et al. On the roles and regulation of chondroitin sulfate and heparan sulfate in zebrafish pharyngeal cartilage morphogenesis. J Biol Chem. 2012;287:33905-16 pubmed
- Näsvall J, Sun L, Roth J, Andersson D. Real-time evolution of new genes by innovation, amplification, and divergence. Science. 2012;338:384-7 pubmed publisher..This rapid process, completed in fewer than 3000 generations, shows the efficacy of the IAD model and allows the study of gene evolution in real time. ..
- Tängdén T, Adler M, Cars O, Sandegren L, Löwdin E. Frequent emergence of porin-deficient subpopulations with reduced carbapenem susceptibility in ESBL-producing Escherichia coli during exposure to ertapenem in an in vitro pharmacokinetic model. J Antimicrob Chemother. 2013;68:1319-26 pubmed publisher..Inappropriate use of ertapenem should be avoided to minimize the risk of selection of ESBL-producing bacteria with reduced susceptibility to carbapenems. ..
- BÃ¶rjesson S, Guillard T, LandÃ©n A, Bengtsson B, Nilsson O. Introduction of quinolone resistant Escherichia coli to Swedish broiler population by imported breeding animals. Vet Microbiol. 2016;194:74-78 pubmed publisher..coli can be introduced through imported breeding birds and spread by vertical transmission to all levels of the broiler production pyramid. ..
- Ã…kerstrÃ¶m T, Maharjan R, Sven Willenberg H, Cupisti K, Ip J, Moser A, et al. Activating mutations in CTNNB1 in aldosterone producing adenomas. Sci Rep. 2016;6:19546 pubmed publisher..This report provides compelling evidence that aberrant WNT signaling caused by mutations in CTNNB1 occur in APAs. This also suggests that other mechanisms that constitutively activate the WNT pathway may be important in APA formation. ..
- Sillen A, Holmgren G, Wadelius C. First prenatal diagnosis by mutation analysis in a family with Sjögren-Larsson syndrome. Prenat Diagn. 1997;17:1147-9 pubmed..Prenatal diagnosis and PCR-based mutation analysis was performed in a pregnancy where the parents are heterozygous carriers for this mutation. The fetus was found to be homozygous for the mutation and thus affected by SLS. ..
- Tamas I, Klasson L, Canback B, Näslund A, Eriksson A, Wernegreen J, et al. 50 million years of genomic stasis in endosymbiotic bacteria. Science. 2002;296:2376-9 pubmed..The genomic stasis of B. aphidicola, likely attributable to the loss of phages, repeated sequences, and recA, indicates that B. aphidicola is no longer a source of ecological innovation for its hosts...
- Gustavsson M, Barmark G, Larsson J, Murén E, Ronne H. Functional genomics of monensin sensitivity in yeast: implications for post-Golgi traffic and vacuolar H+-ATPase function. Mol Genet Genomics. 2008;280:233-48 pubmed publisher..The synthetic lethality of vma1 with mutations affecting retrograde transport to the Golgi further suggests that it is in the late Golgi that a low pH must be maintained. ..
- Orlén H, Melberg A, Raininko R, Kumlien E, Entesarian M, Söderberg P, et al. SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration. Am J Med Genet B Neuropsychiatr Genet. 2009;150B:984-92 pubmed publisher..We anticipate that degeneration of the central retina is a common and previously unrecognized feature in SPG11 related disease. ..
- Dahlqvist J, Torma H, Badhai J, Dahl N. siRNA silencing of proteasome maturation protein (POMP) activates the unfolded protein response and constitutes a model for KLICK genodermatosis. PLoS ONE. 2012;7:e29471 pubmed publisher..Our findings underline a critical role for the proteasome in human epidermal differentiation. ..
- Crona J, Delgado Verdugo A, Maharjan R, Stalberg P, Granberg D, Hellman P, et al. Somatic mutations in H-RAS in sporadic pheochromocytoma and paraganglioma identified by exome sequencing. J Clin Endocrinol Metab. 2013;98:E1266-71 pubmed publisher..Mutations in RAS subtypes H, K, and N are common in human cancers; however, previous studies have been inconsistent regarding the mutational status of RAS in PCC and PGL...
- Gobl A, Berg M, Lopez Egido J, Oberg K, Skogseid B, Westin G. Menin represses JunD-activated transcription by a histone deacetylase-dependent mechanism. Biochim Biophys Acta. 1999;1447:51-6 pubmed..This would result in loss of repression of menin/JunD target genes, as well as non-target genes through indirect mechanisms, deregulation of cellular growth control and endocrine tumorigenesis. ..
- Kaczmarczyk A, Thuveson M, Fries E. Intracellular coupling of the heavy chain of pre-alpha-inhibitor to chondroitin sulfate. J Biol Chem. 2002;277:13578-82 pubmed..These results suggest that in vivo there might be other, as yet unknown, chondroitin sulfate-containing polypeptides linked to the heavy chain. ..
- Andersson L. Genome-wide association analysis in domestic animals: a powerful approach for genetic dissection of trait loci. Genetica. 2009;136:341-9 pubmed publisher..This is an excellent illustration of how the characterization of alleles selected during animal domestication contributes to an improved understanding of genotype-phenotype relationships. ..
- Lannergård J, Cao S, Norström T, Delgado A, Gustafson J, Hughes D. Genetic complexity of fusidic acid-resistant small colony variants (SCV) in Staphylococcus aureus. PLoS ONE. 2011;6:e28366 pubmed publisher..Reversion analysis and genome sequencing support the hypothesis that these combinations of mutations in the rplF, hem, and/or men genes can account for the SCV and auxotrophic phenotypes of FusE mutants. ..
- Jiao X, Wood L, Lindman M, Jones S, Buckhaults P, Polyak K, et al. Somatic mutations in the Notch, NF-KB, PIK3CA, and Hedgehog pathways in human breast cancers. Genes Chromosomes Cancer. 2012;51:480-9 pubmed publisher..These findings strengthen the evidence for involvement of the Notch, Hedgehog, NF-KB, and PIK3CA pathways in breast cancer development, and point to novel processes that likely are involved. ..
- Diaz I, Pedersen S, Kurland C. Effects of miaA on translation and growth rates. Mol Gen Genet. 1987;208:373-6 pubmed..The data suggest that the conditional streptomycin-dependent phenotype of the double mutant cannot be due simply to the depressed polypeptide elongation rates of the double mutant. ..
- Matsumoto T, Turesson I, Book M, Gerwins P, Claesson Welsh L. p38 MAP kinase negatively regulates endothelial cell survival, proliferation, and differentiation in FGF-2-stimulated angiogenesis. J Cell Biol. 2002;156:149-60 pubmed..These results implicate p38 in organization of new vessels and suggest that p38 is an essential regulator of FGF-2-driven angiogenesis. ..
- Amiri H, Davids W, Andersson S. Birth and death of orphan genes in Rickettsia. Mol Biol Evol. 2003;20:1575-87 pubmed..Such reconstructions support the identification of lost protein functions and hint at important lifestyle changes. ..
- Melin M, Klar J, Jr Gedde Dahl T, Fredriksson R, Hausser I, Brandrup F, et al. A founder mutation for ichthyosis prematurity syndrome restricted to 76 kb by haplotype association. J Hum Genet. 2006;51:864-71 pubmed..This region spans four known genes, all of which are expressed in mature epidermal cells. We present the results from the analysis of these four genes and their corresponding transcripts in normal and patient-derived samples. ..
- Innocenti P, Morrow E, Dowling D. Experimental evidence supports a sex-specific selective sieve in mitochondrial genome evolution. Science. 2011;332:845-8 pubmed publisher..These were mostly male-biased in expression, with enrichment hotspots in the testes and accessory glands. Our results suggest an evolutionary mechanism that results in mitochondrial genomes harboring male-specific mutation loads. ..
- Li H, Loriè E, Fischer J, Vahlquist A, Torma H. The expression of epidermal lipoxygenases and transglutaminase-1 is perturbed by NIPAL4 mutations: indications of a common metabolic pathway essential for skin barrier homeostasis. J Invest Dermatol. 2012;132:2368-2375 pubmed publisher..Altogether, our data indicate that ichthyin and TGM1 are functionally closely related in the lipid processing and that this metabolic pathway can be modified by retinoids. ..
- Goh G, Scholl U, Healy J, Choi M, Prasad M, Nelson Williams C, et al. Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors. Nat Genet. 2014;46:613-7 pubmed publisher..PKA activity induces cortisol production and cell proliferation, providing a mechanism for tumor development. These findings define distinct mechanisms underlying adrenal cortisol-producing tumors. ..
- Bikos V, Karypidou M, Stalika E, Baliakas P, Xochelli A, Sutton L, et al. An Immunogenetic Signature of Ongoing Antigen Interactions in Splenic Marginal Zone Lymphoma Expressing IGHV1-2*04 Receptors. Clin Cancer Res. 2016;22:2032-40 pubmed publisher..These findings support ongoing antigen involvement in a sizable portion of SMZL and further argue that IGHV1-2*04 SMZL may represent a distinct molecular subtype of the disease. ..
- Frändberg P, Doufexis M, Kapas S, Chhajlani V. Cysteine residues are involved in structure and function of melanocortin 1 receptor: Substitution of a cysteine residue in transmembrane segment two converts an agonist to antagonist. Biochem Biophys Res Commun. 2001;281:851-7 pubmed
- Enqvist S, Sletten K, Stevens F, Hellman U, Westermark P. Germ line origin and somatic mutations determine the target tissues in systemic AL-amyloidosis. PLoS ONE. 2007;2:e981 pubmed..Eventual identification of such determinants could lead to improved treatment of patients with AL amyloidosis. ..
- Morrison D. How old are the extant lineages of Toxoplasma gondii?. Parassitologia. 2005;47:205-14 pubmed..The MRCA may have existed approximately 150,000 years ago, with the clonal lineages expanding in prevalence approximately 10,000 years ago. ..
- Klasson L, Andersson S. Strong asymmetric mutation bias in endosymbiont genomes coincide with loss of genes for replication restart pathways. Mol Biol Evol. 2006;23:1031-9 pubmed..We hypothesize that cytosine deaminations accumulate during single-strand exposure at arrested replication forks and that inefficient restart mechanisms may lead to high DNA strand asymmetry in bacterial genomes. ..
- Whittle C, Sun Y, Johannesson H. Degeneration in codon usage within the region of suppressed recombination in the mating-type chromosomes of Neurospora tetrasperma. Eukaryot Cell. 2011;10:594-603 pubmed publisher..These findings demonstrate that the fungus N. tetrasperma provides an effective system for the study of degenerative genomic changes in young regions of recombination suppression in sex-regulating chromosomes...
- Lindholm D, Mercer E, Yu L, Chen Y, Kukkonen J, Korhonen L, et al. Neuronal apoptosis inhibitory protein: Structural requirements for hippocalcin binding and effects on survival of NGF-dependent sympathetic neurons. Biochim Biophys Acta. 2002;1600:138-47 pubmed
- Norström T, Lannergård J, Hughes D. Genetic and phenotypic identification of fusidic acid-resistant mutants with the small-colony-variant phenotype in Staphylococcus aureus. Antimicrob Agents Chemother. 2007;51:4438-46 pubmed..aureus SCV mutants. A clinical implication of these data is that FA resistance could be selected by antimicrobial agents other than FA. ..
- Suzuki S, Heldin C, Heuchel R. Platelet-derived growth factor receptor-beta, carrying the activating mutation D849N, accelerates the establishment of B16 melanoma. BMC Cancer. 2007;7:224 pubmed..Our findings suggest that the activated PDGFR-beta (D849N) in the host animal increased the total vessel area and the average vessel surface even in PDGF-negative tumors, resulting in a shorter lag phase during tumor establishment. ..
- Holmqvist K, Cross M, Rolny C, Hägerkvist R, Rahimi N, Matsumoto T, et al. The adaptor protein shb binds to tyrosine 1175 in vascular endothelial growth factor (VEGF) receptor-2 and regulates VEGF-dependent cellular migration. J Biol Chem. 2004;279:22267-75 pubmed..This is achieved by Shb binding to tyrosine 1175 in the VEGFR-2, which regulates VEGF-induced formation of focal adhesions and cell migration, of which the latter occurs in a phosphatidylinositol 3-kinase-dependent manner. ..
- Larsson E, Sundstrom J, Sitbon F, von Arnold S. Expression of PaNAC01, a Picea abies CUP-SHAPED COTYLEDON orthologue, is regulated by polar auxin transport and associated with differentiation of the shoot apical meristem and formation of separated cotyledons. Ann Bot. 2012;110:923-34 pubmed publisher..The results show that CUC-like genes with distinct signature motifs existed before the separation of angiosperms and gymnosperms approx. 300 million years ago, and suggest a conserved function between PaNAC01 and CUC1/CUC2. ..
- Leblanc N, Rasmussen T, Fernandez J, Sailleau C, Rasmussen L, Uttenthal A, et al. Development of a real-time RT-PCR assay based on primer-probe energy transfer for the detection of all serotypes of bluetongue virus. J Virol Methods. 2010;167:165-71 pubmed publisher..This assay provides an important tool for early and rapid detection of a wide range of BTV strains, including emerging strains...
- Dahlqvist J, Klar J, Hausser I, Anton Lamprecht I, Pigg M, Gedde Dahl T, et al. Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis. J Med Genet. 2007;44:615-20 pubmed..The results also suggest that EM provides a tool for specific diagnosis in a genetically homogenous subgroup of patients with ARCI. ..
- Chen Y, Koripella R, Sanyal S, Selmer M. Staphylococcus aureus elongation factor G--structure and analysis of a target for fusidic acid. FEBS J. 2010;277:3789-803 pubmed publisher..thermophilus EF-G in complex with the 70S ribosome with fusidic acid [Gao YG et al. (2009) Science326, 694-699]. The mutations can be classified as affecting FA binding, EF-G-ribosome interactions, EF-G conformation, and EF-G stability. ..
- Parducci L, Jørgensen T, Tollefsrud M, Elverland E, Alm T, Fontana S, et al. Glacial survival of boreal trees in northern Scandinavia. Science. 2012;335:1083-6 pubmed publisher..Our findings imply that conifer trees survived in ice-free refugia of Scandinavia during the last glaciation, challenging current views on survival and spread of trees as a response to climate changes. ..
- Kurland C, Harish A. The phylogenomics of protein structures: The backstory. Biochimie. 2015;119:284-302 pubmed publisher..The ToL is rooted in a surprisingly complex universal common ancestor (UCA) that is distinct from any specific modern descendant and d. HGT including endosymbiosis is a negligible player in genome evolution from UCA to the present. ..
- Smertenko A, Moschou P, Zhang L, Fahy D, Bozhkov P. Characterization of Cytokinetic Mutants Using Small Fluorescent Probes. Methods Mol Biol. 2016;1370:199-208 pubmed publisher..This chapter describes techniques for staining DNA with the probes DAPI and SYTO82, for staining membranes with FM4-64, and for staining cell wall with propidium iodide. ..
- Andersson R, Koiv V, Norman Setterblad C, Pirhonen M. Role of RpoS in virulence and stress tolerance of the plant pathogen Erwinia carotovora subsp. carotovora. Microbiology. 1999;145 ( Pt 12):3547-56 pubmed..These results suggest that a functional rpoS gene is needed mainly for survival in a competitive environment and during stress conditions, and not for effective infection of plants. ..
- Fröjmark A, Badhai J, Klar J, Thuveson M, Schuster J, Dahl N. Cooperative effect of ribosomal protein s19 and Pim-1 kinase on murine c-Myc expression and myeloid/erythroid cellularity. J Mol Med (Berl). 2010;88:39-46 pubmed publisher..Our findings suggest that combined Rps19 insufficiency and Pim-1 deficiency promote murine myeloid cell growth through a deregulation of c-Myc and a simultaneous up-regulation of anti-apoptotic Bcl proteins. ..
- Kirsebom L, Svard S. The kinetics and specificity of cleavage by RNase P is mainly dependent on the structure of the amino acid acceptor stem. Nucleic Acids Res. 1992;20:425-32 pubmed..In addition, it appears that the C5 protein of RNase P is involved in the interaction between the enzyme and its substrate in a substrate-dependent manner, as previously suggested. ..
- Pigg M, Gedde Dahl T, Cox D, Hausser I, Anton Lamprecht I, Dahl N. Strong founder effect for a transglutaminase 1 gene mutation in lamellar ichthyosis and congenital ichthyosiform erythroderma from Norway. Eur J Hum Genet. 1998;6:589-96 pubmed..The mutation was previously observed in one family with a resulting cDNA that included the entire intron 5. These results suggest that the mutation can result in variant transcripts in different individuals. ..
- Svensson Ek M, Abramson J, Larsson G, T rnroth S, Brzezinski P, Iwata S. The X-ray crystal structures of wild-type and EQ(I-286) mutant cytochrome c oxidases from Rhodobacter sphaeroides. J Mol Biol. 2002;321:329-39 pubmed..These differences between the structures could reflect conformational changes that take place upon deprotonation of E(I-286) during turnover of the wild-type enzyme, which could be part of the proton-pumping machinery of the enzyme...
- Zavialov A, Mora L, Buckingham R, Ehrenberg M. Release of peptide promoted by the GGQ motif of class 1 release factors regulates the GTPase activity of RF3. Mol Cell. 2002;10:789-98 pubmed..Therefore, the sequence of steps during termination of translation is regulated by removal of the polypeptide, an event that might trigger a conformational change in the ribosome. ..
- Vahlquist A, Bygum A, Gånemo A, Virtanen M, Hellström Pigg M, Strauss G, et al. Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients. J Invest Dermatol. 2010;130:438-43 pubmed publisher..In conclusion, ALOX12B mutations are the leading cause of SICI in Scandinavia, followed by ALOXE3 mutations, which have not been previously associated with this variant of ARCI. ..
- Wootz H, Fitzsimons Kantamneni E, Larhammar M, Rotterman T, Enjin A, Patra K, et al. Alterations in the motor neuron-renshaw cell circuit in the Sod1(G93A) mouse model. J Comp Neurol. 2013;521:1449-69 pubmed publisher..We conclude that the loss of presynaptic motor axon input on Renshaw cells occurs at early stages of ALS and disconnects the recurrent inhibitory circuit, presumably resulting in diminished control of motor neuron firing. ..
- Korkmaz G, Sanyal S. R213I mutation in release factor 2 (RF2) is one step forward for engineering an omnipotent release factor in bacteria Escherichia coli. J Biol Chem. 2017;292:15134-15142 pubmed publisher..We propose that the R213I mutation in RF2 brings us one step forward toward engineering an omnipotent RF in bacteria, capable of reading all three stop codons. ..
- Thelander M, Olsson T, Ronne H. Snf1-related protein kinase 1 is needed for growth in a normal day-night light cycle. EMBO J. 2004;23:1900-10 pubmed publisher..This suggests that SnRK1 is needed for metabolic changes that help the plant cope with the dark hours of the night...
- Lannergård J, von Eiff C, Sander G, Cordes T, Seggewiss J, Peters G, et al. Identification of the genetic basis for clinical menadione-auxotrophic small-colony variant isolates of Staphylococcus aureus. Antimicrob Agents Chemother. 2008;52:4017-22 pubmed publisher..These data show that mutations in menB cause the SCV phenotype in these clinical isolates. This is the first report on the genetic basis of menadione-auxotrophic SCVs determined in clinical S. aureus isolates. ..
- Bohman S, Staal J, Thomma B, Wang M, Dixelius C. Characterisation of an Arabidopsis-Leptosphaeria maculans pathosystem: resistance partially requires camalexin biosynthesis and is independent of salicylic acid, ethylene and jasmonic acid signalling. Plant J. 2004;37:9-20 pubmed..The data presented point to the existence of multiple defence mechanisms controlling the containment of L. maculans in Arabidopsis. ..
- Almlöf M, Aqvist J, Smalås A, Brandsdal B. Probing the effect of point mutations at protein-protein interfaces with free energy calculations. Biophys J. 2006;90:433-42 pubmed..Our results clearly demonstrate the potential of free energy calculations for probing the effect of point mutations at protein-protein interfaces and for exploring the principles of specificity of hot spots at the interface. ..
- Pettersson M, Berg O. Muller's ratchet in symbiont populations. Genetica. 2007;130:199-211 pubmed
- Klar J, Schweiger M, Zimmerman R, Zechner R, Li H, Torma H, et al. Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome. Am J Hum Genet. 2009;85:248-53 pubmed publisher..Our results further emphasize the importance of fatty acid metabolism for normal epidermal barrier function illustrated by deficiency of a member in the FATP family of proteins. ..
- Mansouri L, Grabowski P, Degerman S, Svenson U, Gunnarsson R, Cahill N, et al. Short telomere length is associated with NOTCH1/SF3B1/TP53 aberrations and poor outcome in newly diagnosed chronic lymphocytic leukemia patients. Am J Hematol. 2013;88:647-51 pubmed publisher..Altogether, these novel data indicate that short TL already at diagnosis is associated with poor outcome in CLL and that TL can be measured at later stages of the disease. ..
- Pang Y, Kurella S, Voisset C, Samanta D, Banerjee D, Schabe A, et al. The antiprion compound 6-aminophenanthridine inhibits the protein folding activity of the ribosome by direct competition. J Biol Chem. 2013;288:19081-9 pubmed publisher..Thus, we conclude that 6AP competitively occludes the protein substrates from binding to rRNA and thereby inhibits PFAR. Finally, we propose a scheme clarifying the mechanism by which 6AP inhibits PFAR. ..
- Li X, Padhan N, SjÃ¶strÃ¶m E, Roche F, Testini C, Honkura N, et al. VEGFR2 pY949 signalling regulates adherens junction integrity and metastatic spread. Nat Commun. 2016;7:11017 pubmed publisher..Blocking VEGFA-induced disassembly of endothelial junctions, thereby suppressing tumour oedema and metastatic spread, may be preferable to full vascular suppression in the treatment of certain cancer forms. ..
- Lindroos K, Liljedahl U, Raitio M, Syvanen A. Minisequencing on oligonucleotide microarrays: comparison of immobilisation chemistries. Nucleic Acids Res. 2001;29:E69-9 pubmed..The best genotyping results were observed using mercaptosilane-coated slides attaching disulfide-modified oligonucleotides. ..
- Söderhäll I, Wu C, Novotny M, Lee B, Soderhall K. A novel protein acts as a negative regulator of prophenoloxidase activation and melanization in the freshwater crayfish Pacifastacus leniusculus. J Biol Chem. 2009;284:6301-10 pubmed publisher..Overall, a new negative regulator of melanization was identified in freshwater crayfish that shows interesting parallels with proteins (i.e. ficolins) involved in vertebrate immune response. ..
- Grip S, Johansson J, Hedhammar M. Engineered disulfides improve mechanical properties of recombinant spider silk. Protein Sci. 2009;18:1012-22 pubmed publisher..These results show that mutagenesis of 4RepCT can reveal spidroin structure-activity relationships and generate recombinant fibers with improved mechanical properties. ..
- Rolny C, Lu L, Agren N, Nilsson I, Roe C, Webb G, et al. Shb promotes blood vessel formation in embryoid bodies by augmenting vascular endothelial growth factor receptor-2 and platelet-derived growth factor receptor-beta signaling. Exp Cell Res. 2005;308:381-93 pubmed..The findings suggest that Shb may play a crucial role during early ES cell differentiation to vascular structures by transducing VEGFR-2 and PDGFR-beta signals. ..
- Fange D, Elf J. Noise-induced Min phenotypes in E. coli. PLoS Comput Biol. 2006;2:e80 pubmed..Our results emphasize that local copy number fluctuation may result in phenotypic differences although the total number of molecules of the relevant species is high. ..
- Wardega P, Heldin C, Lennartsson J. Mutation of tyrosine residue 857 in the PDGF beta-receptor affects cell proliferation but not migration. Cell Signal. 2010;22:1363-8 pubmed publisher..Interestingly, PDGFRbeta(Y857F) was unable to mediate PDGF-BB-induced mitogenic signaling, whereas it could elicit a chemotactic response. ..
- Schwochow Thalmann D, Ring H, Sundström E, Cao X, Larsson M, Kerje S, et al. The evolution of Sex-linked barring alleles in chickens involves both regulatory and coding changes in CDKN2A. PLoS Genet. 2017;13:e1006665 pubmed publisher..Our results show that CDKN2A is a major locus driving the differentiation of avian melanocytes in a temporal and spatial manner. ..
- Nilsson P, Henriksson N, Niedzwiecka A, Balatsos N, Kokkoris K, Eriksson J, et al. A multifunctional RNA recognition motif in poly(A)-specific ribonuclease with cap and poly(A) binding properties. J Biol Chem. 2007;282:32902-11 pubmed..RRM is one of the most commonly occurring RNA-binding domains identified so far, suggesting that other RRMs may have both cap and RNA binding properties just as the RRM of PARN. ..
- Martinez Barrio A, Eriksson O, Badhai J, Fröjmark A, Bongcam Rudloff E, Dahl N, et al. Targeted resequencing and analysis of the Diamond-Blackfan anemia disease locus RPS19. PLoS ONE. 2009;4:e6172 pubmed publisher..We suggest that the detected interactions are of importance for hematopoiesis and could provide new insights into individual response to treatment. ..
- Junaid M, Lapins M, Eklund M, Spjuth O, Wikberg J. Proteochemometric modeling of the susceptibility of mutated variants of the HIV-1 virus to reverse transcriptase inhibitors. PLoS ONE. 2010;5:e14353 pubmed publisher..Our results give directions how to develop approaches for selection of genome-based optimum combination therapy for patients harboring mutated HIV variants. ..
- Whittle C, Sun Y, Johannesson H. Genome-wide selection on codon usage at the population level in the fungal model organism Neurospora crassa. Mol Biol Evol. 2012;29:1975-86 pubmed publisher..Overall, the present data demonstrate that selection, and partly genetic interference, shapes codon variation across the genome in N. crassa populations. ..
- Koskiniemi S, Gibbons H, Sandegren L, Anwar N, Ouellette G, Broomall S, et al. Pathoadaptive mutations in Salmonella enterica isolated after serial passage in mice. PLoS ONE. 2013;8:e70147 pubmed publisher..These experiments show that Salmonella can rapidly adapt to a mouse environment by acquiring a few mutations of moderate individual effect that when combined confer substantial increases in growth. ..
- Ivansson E, Megquier K, Kozyrev S, Murén E, Körberg I, Swofford R, et al. Variants within the SP110 nuclear body protein modify risk of canine degenerative myelopathy. Proc Natl Acad Sci U S A. 2016;113:E3091-100 pubmed publisher..Further studies are warranted to clarify the effect of this modifier across dog breeds. ..
- Gustavsson P, Klar J, Matsson H, Forestier E, Henter J, Rao S, et al. Familial transient erythroblastopenia of childhood is associated with the chromosome 19q13.2 region but not caused by mutations in coding sequences of the ribosomal protein S19 (RPS19) gene. Br J Haematol. 2002;119:261-4 pubmed..Linkage analysis supported allelism for TEC and DBA at the RPS19 gene locus and implies molecular mechanisms other than structural mutations in the RPS19 gene. ..
- Berglund J, Pollard K, Webster M. Hotspots of biased nucleotide substitutions in human genes. PLoS Biol. 2009;7:e26 pubmed publisher..This process can lead to accelerated evolution in coding sequences and excess amino acid replacement substitutions, thereby generating significant results for tests of positive selection. ..
- Guy L, Jernberg C, Arvén Norling J, Ivarsson S, Hedenström I, Melefors O, et al. Adaptive mutations and replacements of virulence traits in the Escherichia coli O104:H4 outbreak population. PLoS ONE. 2013;8:e63027 pubmed publisher..The results are summarized in a refined evolutionary model for the emergence of the O104:H4 outbreak population. ..
- Singh U, Yu Y, Kalinina E, Konno T, Sun T, Ohta H, et al. Carboxypeptidase E in the mouse placenta. Differentiation. 2006;74:648-60 pubmed
- Lindberg D, Hessman O, Akerstrom G, Westin G. Cyclin-dependent kinase 4 (CDK4) expression in pancreatic endocrine tumors. Neuroendocrinology. 2007;86:112-8 pubmed..We conclude that CDK4 and c-Myc is generally expressed in benign and malignant PETs, and regardless of MEN1 mutational status. Targeting of CDK4 may present an alternative to traditional chemotherapy of PETs in the future. ..
- Liu W, Bostrom M, Kinnefors A, Rask Andersen H. Unique expression of connexins in the human cochlea. Hear Res. 2009;250:55-62 pubmed publisher..Their potential role in the processing of human auditory nerve signaling as well as non-GJ roles of the connexins in human cochlea is discussed. ..
- Ståldal V, Cierlik I, Chen S, Landberg K, Baylis T, Myrenås M, et al. The Arabidopsis thaliana transcriptional activator STYLISH1 regulates genes affecting stamen development, cell expansion and timing of flowering. Plant Mol Biol. 2012;78:545-59 pubmed publisher..The majority of the identified genes encode transcription factors or cell expansion-related enzymes and functional studies suggest their involvement in stamen and leaf development or flowering time regulation. ..
- ..Genome-wide screening of different types of NETs can now be performed for a reasonable price and is likely to generate new insights into the tumor biology and carcinogenesis in various subtypes of NETs. ..
- Nicoloff H, Andersson D. Lon protease inactivation, or translocation of the lon gene, potentiate bacterial evolution to antibiotic resistance. Mol Microbiol. 2013;90:1233-48 pubmed publisher..Our results demonstrate how order of appearance of mutations and gene location can influence the rate of resistance evolution. ..
- Enge M, Arda H, Mignardi M, Beausang J, Bottino R, Kim S, et al. Single-Cell Analysis of Human Pancreas Reveals Transcriptional Signatures of Aging and Somatic Mutation Patterns. Cell. 2017;171:321-330.e14 pubmed publisher..Our results demonstrate the feasibility of using single-cell RNA sequencing (RNA-seq) data from primary cells to derive insights into genetic and transcriptional processes that operate on aging human tissue. ..
- Lindberg D, Akerstrom G, Westin G. Evaluation of CDKN2C/p18, CDKN1B/p27 and CDKN2B/p15 mRNA expression, and CpG methylation status in sporadic and MEN1-associated pancreatic endocrine tumours. Clin Endocrinol (Oxf). 2008;68:271-7 pubmed..The p15 gene was silenced by promoter hypermethylation in two tumours. Dysregulation of menin and the CDIs are important in PET tumorigenesis, and their interrelations remain to be elucidated. ..
- Gunnarsson U, Kerje S, Bed Hom B, Sahlqvist A, Ekwall O, Tixier Boichard M, et al. The Dark brown plumage color in chickens is caused by an 8.3-kb deletion upstream of SOX10. Pigment Cell Melanoma Res. 2011;24:268-74 pubmed publisher..Lower tyrosinase activity leads to a shift toward a more pheomelanistic (reddish) plumage color, which is the characteristic feature of the DB phenotype. ..
- Dorshorst B, Molin A, Rubin C, Johansson A, Strömstedt L, Pham M, et al. A complex genomic rearrangement involving the endothelin 3 locus causes dermal hyperpigmentation in the chicken. PLoS Genet. 2011;7:e1002412 pubmed publisher..This complex genomic rearrangement causing a specific monogenic trait in the chicken illustrates how novel mutations with major phenotypic effects have been reused during breed formation in domestic animals...
- Swartling F. Myc proteins in brain tumor development and maintenance. Ups J Med Sci. 2012;117:122-31 pubmed publisher..This review will focus on the role of Myc family members (particularly c-myc and Mycn) in tumors like medulloblastoma and glioma and will further discuss how to target stabilization of these proteins for future brain tumor therapies. ..
- Andersson K, Dahllöf G, Lindahl K, Kindmark A, Grigelioniene G, Aström E, et al. Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta - A retrospective cohort study. PLoS ONE. 2017;12:e0176466 pubmed publisher..The varying expressivity of DGI is related to the location of the collagen I mutation. Genotype information may be helpful in identifying individuals with OI who have an increased risk of dental aberrations. ..
- Termén S, Tan E, Heldin C, Moustakas A. p53 regulates epithelial-mesenchymal transition induced by transforming growth factor ?. J Cell Physiol. 2013;228:801-13 pubmed publisher..This work proposes that wild type p53 controls the efficiency by which mammary epithelial cells undergo EMT in response to TGF?. ..
- Pavlov M, Zorzet A, Andersson D, Ehrenberg M. Activation of initiation factor 2 by ligands and mutations for rapid docking of ribosomal subunits. EMBO J. 2011;30:289-301 pubmed publisher..Functional characterization of the A-type mutations provides keys to structural interpretation of conditional switching of IF2 and other multidomain GTPases. ..