Genomes and Genes
Experts and Doctors on mutation in Austria
Publications293 found, 100 shown here
- Trentini D, Fuhrmann J, Mechtler K, Clausen T. Chasing Phosphoarginine Proteins: Development of a Selective Enrichment Method Using a Phosphatase Trap. Mol Cell Proteomics. 2014;13:1953-64 pubmed publisher..In conclusion, we present a novel tool for the selective enrichment and subsequent MS analysis of arginine phosphorylation, which is a largely overlooked protein modification that might be important for eukaryotic cell signaling. ..
- Eisenkolb M, Zenzmaier C, Leitner E, Schneiter R. A specific structural requirement for ergosterol in long-chain fatty acid synthesis mutants important for maintaining raft domains in yeast. Mol Biol Cell. 2002;13:4414-28 pubmed
- Berger J, Gartner J. X-linked adrenoleukodystrophy: clinical, biochemical and pathogenetic aspects. Biochim Biophys Acta. 2006;1763:1721-32 pubmed..Urgently needed novel therapeutic strategies are under consideration ranging from dietary approaches to gene therapy...
- Eisenhaber B, Schneider G, Wildpaner M, Eisenhaber F. A sensitive predictor for potential GPI lipid modification sites in fungal protein sequences and its application to genome-wide studies for Aspergillus nidulans, Candida albicans, Neurospora crassa, Saccharomyces cerevisiae and Schizosaccharomyces po. J Mol Biol. 2004;337:243-53 pubmed..Lists of potentially GPI lipid anchored proteins for five fungal proteomes have been generated and the hits have been functionally classified. The fungal big-Pi prediction WWW server as well as precursor lists are available at ..
- Kurat C, Natter K, Petschnigg J, Wolinski H, Scheuringer K, Scholz H, et al. Obese yeast: triglyceride lipolysis is functionally conserved from mammals to yeast. J Biol Chem. 2006;281:491-500 pubmed..Our data identify yeast Tgl4 as a functional ortholog of mammalian adipose triglyceride lipase. ..
- Chatterjee K, Zufferey D, Nowak M. Evolutionary game dynamics in populations with different learners. J Theor Biol. 2012;301:161-73 pubmed publisher..Our paper is a step toward making a connection between computational learning theory and evolutionary game dynamics. ..
- Steinberger J, Kontaxis G, Rancan C, Skern T. Comparison of self-processing of foot-and-mouth disease virus leader proteinase and porcine reproductive and respiratory syndrome virus leader proteinase nsp1?. Virology. 2013;443:271-7 pubmed publisher..This provides a large interaction surface for the CTE with the globular domain, stabilising the intramolecular complex. Consequently, self-processing inactivates nsp1? but not Lb(pro)...
- Basmanav F, Oprişoreanu A, Pasternack S, Thiele H, Fritz G, Wenzel J, et al. Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease. Am J Hum Genet. 2014;94:135-43 pubmed publisher..Interestingly, both POGLUT1 and POFUT1 are essential regulators of Notch activity. Our results furthermore emphasize the important role of the Notch pathway in pigmentation and keratinocyte morphology. ..
- Helmberg A. Twin genes and endocrine disease: CYP21 and CYP11B genes. Acta Endocrinol (Copenh). 1993;129:97-108 pubmed..This creates specific difficulties in the molecular diagnosis of defects. ..
- Zwirn P, Stary S, Luschnig C, Bachmair A. Arabidopsis thaliana RAD6 homolog AtUBC2 complements UV sensitivity, but not N-end rule degradation deficiency, of Saccharomyces cerevisiae rad6 mutants. Curr Genet. 1997;32:309-14 pubmed..It was found to partially complement the UV sensitivity and reduced growth rate of rad6 mutants at elevated temperatures. AtUBC2 however, has no apparent influence on the degradation of N-end rule substrates in the heterologous host. ..
- Nidetzky B, Griessler R, Pierfederici F, Psik B, Scire A, Tanfani F. Mutagenesis of the dimer interface region of Corynebacterium callunae starch phosphorylase perturbs the phosphate-dependent conformational relay that enhances oligomeric stability of the enzyme. J Biochem. 2003;134:599-606 pubmed..The broad denaturation transition of unliganded wild type in the range 40-50 degrees C is reduced in the S224A and R234A mutants, and this reflects mainly a shift of the onset of denaturation to a 4-5 degrees C higher value. ..
- Lorenz A, Wells J, Pryce D, Novatchkova M, Eisenhaber F, McFarlane R, et al. S. pombe meiotic linear elements contain proteins related to synaptonemal complex components. J Cell Sci. 2004;117:3343-51 pubmed..These observations indicate the evolutionary relationship of LEs with the lateral elements of SCs and suggest that these structures might exert similar functions in S. cerevisiae and S. pombe. ..
- Wada T, Nakashima T, Oliveira dos Santos A, Gasser J, Hara H, Schett G, et al. The molecular scaffold Gab2 is a crucial component of RANK signaling and osteoclastogenesis. Nat Med. 2005;11:394-9 pubmed..We have thus identified a new, key regulatory scaffold molecule, Gab2, that controls select RANK signaling pathways and is essential for osteoclastogenesis and bone homeostasis. ..
- Schlosser S, Leitsch D, Duch ne M. Entamoeba histolytica: identification of thioredoxin-targeted proteins and analysis of serine acetyltransferase-1 as a prototype example. Biochem J. 2013;451:277-88 pubmed publisher..histolytica. Furthermore, the activity of peroxiredoxin, which is dependent on a functioning TrxR/Trx system, was strongly reduced in metronidazole-treated parasites...
- Haberler C, Wöhrer A. Clinical Neuropathology practice news 2-2014: ATRX, a new candidate biomarker in gliomas. Clin Neuropathol. 2014;33:108-11 pubmed..Mutations of ATRX are associated with loss of nuclear ATRX protein expression, detectable by a commercially available antibody, thus turning ATRX into a promising prognostic candidate biomarker in the routine neuropathological setting. ..
- Menardi C, Schneider R, Neuschmid Kaspar F, Klocker H, Hirsch Kauffmann M, Auer B, et al. Human APRT deficiency: indication for multiple origins of the most common Caucasian mutation and detection of a novel type of mutation involving intrastrand-templated repair. Hum Mutat. 1997;10:251-5 pubmed
- Sibilia M, Steinbach J, Stingl L, Aguzzi A, Wagner E. A strain-independent postnatal neurodegeneration in mice lacking the EGF receptor. EMBO J. 1998;17:719-31 pubmed..Since EGFR is expressed in the affected cell-types, these results define a specific function for EGFR in the proliferation and/or differentiation of astrocytes and in the survival of postmitotic neurons. ..
- Jechlinger W, Szostak M, Witte A, Lubitz W. Altered temperature induction sensitivity of the lambda pR/cI857 system for controlled gene E expression in Escherichia coli. FEMS Microbiol Lett. 1999;173:347-52 pubmed..In this study we describe a mutation in the lambda pR promoter, which allows stringent repression of gene E expression at temperatures up to 36 degrees C, but still permits induction of cell lysis at 42 degrees C...
- Gregan J, Kolisek M, Schweyen R. Mitochondrial Mg(2+) homeostasis is critical for group II intron splicing in vivo. Genes Dev. 2001;15:2229-37 pubmed..It explains finally why protein factors modulating Mg(2+) homeostasis had been identified in genetic screens for bona fide RNA splicing factors. ..
- Scholze P, Nørregaard L, Singer E, Freissmuth M, Gether U, Sitte H. The role of zinc ions in reverse transport mediated by monoamine transporters. J Biol Chem. 2002;277:21505-13 pubmed..In addition, they indicate a physiological role of Zn2+, because Zn2+ also facilitated transport reversal of DAT in rat striatal slices...
- Zeilinger S, Reithner B, Scala V, Peissl I, Lorito M, Mach R. Signal transduction by Tga3, a novel G protein alpha subunit of Trichoderma atroviride. Appl Environ Microbiol. 2005;71:1591-7 pubmed..Thus, T. atroviride Tga3 has a general role in vegetative growth and can alter mycoparasitism-related characteristics, such as infection structure formation and chitinase gene expression. ..
- Meierhofer D, Mayr J, Fink K, Schmeller N, Kofler B, Sperl W. Mitochondrial DNA mutations in renal cell carcinomas revealed no general impact on energy metabolism. Br J Cancer. 2006;94:268-74 pubmed
- Rinnerthaler M, Jarolim S, Heeren G, Palle E, Perju S, Klinger H, et al. MMI1 (YKL056c, TMA19), the yeast orthologue of the translationally controlled tumor protein (TCTP) has apoptotic functions and interacts with both microtubules and mitochondria. Biochim Biophys Acta. 2006;1757:631-8 pubmed..Our results so far indicate that Mmi1p is one of the few proteins establishing a functional link between microtubules and mitochondria which may be needed for correct localization of mitochondria during cell division. ..
- Resch U, Winsauer G, Hofer Warbinek R, de Martin R. X-linked inhibitor of apoptosis protein regulates human interleukin-6 in umbilical vein endothelial cells via stimulation of the nuclear factor-kappaB and MAP kinase signaling pathways. Pharmacol Rep. 2006;58 Suppl:111-7 pubmed..In conclusion, these results suggest that XIAP regulates IL-6 transcription via NF-kappaB in cooperation with AP1 and C/EBP-beta. ..
- Sedej S, Heinzel F, Walther S, Dybkova N, Wakula P, Groborz J, et al. Na+-dependent SR Ca2+ overload induces arrhythmogenic events in mouse cardiomyocytes with a human CPVT mutation. Cardiovasc Res. 2010;87:50-9 pubmed publisher..Stabilization of RyR2 by JTV-519 effectively reduces these triggered arrhythmias. ..
- Reitter Pfoertner S, von Haeseler A, Horvath B, Sunder Plassmann R, Tiedje V, Pabinger I, et al. Identification of an ancient haemophilia A splice site mutation. Thromb Res. 2012;130:445-50 pubmed publisher..While the mutation was passed on through generations, the haplotypes identified in the seven patients derived from this founder haplotype but were changed by later mutations in the STR regions. ..
- Belisova A, Semrad K, Mayer O, Kocian G, Waigmann E, Schroeder R, et al. RNA chaperone activity of protein components of human Ro RNPs. RNA. 2005;11:1084-94 pubmed
- Lassmann H, Bartsch U, Montag D, Schachner M. Dying-back oligodendrogliopathy: a late sequel of myelin-associated glycoprotein deficiency. Glia. 1997;19:104-10 pubmed..These alterations are similar to those described before as "dying-back oligodendrogliopathy" in diseases of toxic or immune-mediated demyelination including multiple sclerosis. ..
- Jenuwein T. Molecular biology. An RNA-guided pathway for the epigenome. Science. 2002;297:2215-8 pubmed
- Aufsatz W, Mette M, van der Winden J, Matzke M, Matzke A. HDA6, a putative histone deacetylase needed to enhance DNA methylation induced by double-stranded RNA. EMBO J. 2002;21:6832-41 pubmed..Because CG methylation in centromeric and rDNA repeats was not reduced in rts1 mutants, HDA6 might be specialized for the RNA- directed pathway of genome modification. ..
- Stary S, Yin X, Potuschak T, Schlögelhofer P, Nizhynska V, Bachmair A. PRT1 of Arabidopsis is a ubiquitin protein ligase of the plant N-end rule pathway with specificity for aromatic amino-terminal residues. Plant Physiol. 2003;133:1360-6 pubmed..The results presented also imply that other known substrates of the plant N-end rule pathway are ubiquitylated by one or more different ubiquitin protein ligases. ..
- Fratzl Zelman N, Valenta A, Roschger P, Nader A, Gelb B, Fratzl P, et al. Decreased bone turnover and deterioration of bone structure in two cases of pycnodysostosis. J Clin Endocrinol Metab. 2004;89:1538-47 pubmed
- Pospisilova S, Siligan C, Ban J, Jug G, Kovar H. Constitutive and DNA damage inducible activation of pig3 and MDM2 genes by tumor-derived p53 mutant C277Y. Mol Cancer Res. 2004;2:296-304 pubmed..Our results, therefore, show that a p53 mutant may behave differently when tested in its authentic cellular context. ..
- Ferko B, Stasakova J, Romanova J, Kittel C, Sereinig S, Katinger H, et al. Immunogenicity and protection efficacy of replication-deficient influenza A viruses with altered NS1 genes. J Virol. 2004;78:13037-45 pubmed..These findings indicate that a targeted modification of the RNA-binding domain of the NS1 protein is a valuable technique to generate replication-deficient, but immunogenic influenza virus vaccines. ..
- Gruber T, Thuille N, Hermann Kleiter N, Leitges M, Baier G. Protein kinase Cepsilon is dispensable for TCR/CD3-signaling. Mol Immunol. 2005;42:305-10 pubmed..Thus, PKCepsilon-deficient T-cells had similar physiological thresholds for activation in vitro. This finding suggests that PKCepsilon plays a redundant role in TCR-induced regulation of T-cell proliferation. ..
- de Vladar H, Barton N. The statistical mechanics of a polygenic character under stabilizing selection, mutation and drift. J R Soc Interface. 2011;8:720-39 pubmed publisher..We also find hysteresis, showing that even after averaging over the microscopic variables, the macroscopic trajectories retain a memory of the underlying genetic states. ..
- Birner R, Nebauer R, Schneiter R, Daum G. Synthetic lethal interaction of the mitochondrial phosphatidylethanolamine biosynthetic machinery with the prohibitin complex of Saccharomyces cerevisiae. Mol Biol Cell. 2003;14:370-83 pubmed..In conclusion, destabilizing effects triggered by low levels of mitochondrial PtdEtn seem to account for synthetic lethality of psd1Delta with phb mutants. ..
- Gregori C, Bauer B, Schwartz C, Kren A, Schüller C, Kuchler K. A genetic screen identifies mutations in the yeast WAR1 gene, linking transcription factor phosphorylation to weak-acid stress adaptation. FEBS J. 2007;274:3094-107 pubmed
- Hadzijusufovic E, Peter B, Rebuzzi L, Baumgartner C, Gleixner K, Gruze A, et al. Growth-inhibitory effects of four tyrosine kinase inhibitors on neoplastic feline mast cells exhibiting a Kit exon 8 ITD mutation. Vet Immunol Immunopathol. 2009;132:243-50 pubmed publisher..The growth-inhibitory TKI effects were found to be associated with morphologic signs of apoptosis in MC. In conclusion, various Kit-targeting TKI can inhibit the in vitro growth and survival of feline neoplastic MC in SM. ..
- Loidl J, Klein F, Scherthan H. Homologous pairing is reduced but not abolished in asynaptic mutants of yeast. J Cell Biol. 1994;125:1191-200 pubmed..This indicates that double-strand breaks are not an essential component of the meiotic homology searching mechanism or that there exist additional or alternative mechanisms for locating homologues. ..
- Potuschak T, Stary S, Schlögelhofer P, Becker F, Nejinskaia V, Bachmair A. PRT1 of Arabidopsis thaliana encodes a component of the plant N-end rule pathway. Proc Natl Acad Sci U S A. 1998;95:7904-8 pubmed..The RING finger domains have been found in a number of other proteins that are involved in ubiquitin conjugation, consistent with the proposed role of PRT1 in the plant N-end rule pathway. ..
- Fitzky B, Witsch Baumgartner M, Erdel M, Lee J, Paik Y, Glossmann H, et al. Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome. Proc Natl Acad Sci U S A. 1998;95:8181-6 pubmed..The missense mutations L99P, V326L, R352W, R404C, and G410S reduced heterologous protein expression by >90%. Our results strongly suggest that defects in the DHCR7 gene cause the SLOS. ..
- Aigner B, Besenfelder U, Muller M, Brem G. Tyrosinase gene variants in different rabbit strains. Mamm Genome. 2000;11:700-2 pubmed
- Löffler J, Trojovsky A, Casati B, Kroisel P, Utermann G. Homozygosity for the W151X stop mutation in the delta7-sterol reductase gene (DHCR7) causing a lethal form of Smith-Lemli-Opitz syndrome: retrospective molecular diagnosis. Am J Med Genet. 2000;95:174-7 pubmed..Furthermore, our findings suggest the usefulness of molecular studies of stored material in similarly affected cases where no material for biochemical analysis is available. ..
- Wappl E, Koschak A, Poteser M, Sinnegger M, Walter D, Eberhart A, et al. Functional consequences of P/Q-type Ca2+ channel Cav2.1 missense mutations associated with episodic ataxia type 2 and progressive ataxia. J Biol Chem. 2002;277:6960-6 pubmed..In contrast to other EA-2 mutations, AY1593/1594D and G293R form at least partially functional channels. ..
- Kasielke N, Obermair G, Kugler G, Grabner M, Flucher B. Cardiac-type EC-coupling in dysgenic myotubes restored with Ca2+ channel subunit isoforms alpha1C and alpha1D does not correlate with current density. Biophys J. 2003;84:3816-28 pubmed..These properties of cardiac-type EC-coupling in dysgenic myotubes are consistent with a CICR mechanism under the control of local Ca(2+) gradients in the triad junctions. ..
- Melikant B, Giuliani C, Halbmayer Watzina S, Limmongkon A, Heberle Bors E, Wilson C. The Arabidopsis thaliana MEK AtMKK6 activates the MAP kinase AtMPK13. FEBS Lett. 2004;576:5-8 pubmed..RT-PCR analysis showed the co-expression of these two genes in diverse plant tissues. These data show that AtMKK6 can functionally activate the MAP kinase AtMPK13. ..
- Schoniger Hekele M, Petermann D, Muller C. Mutation of keratin 8 in patients with liver disease. J Gastroenterol Hepatol. 2006;21:1466-9 pubmed..However, the clinical relevance is yet to be determined in further investigations. ..
- Sousa C, Schmid E, Skern T. Defining residues involved in human rhinovirus 2A proteinase substrate recognition. FEBS Lett. 2006;580:5713-7 pubmed..The mutations A104C or A104S in HRV14 2A(pro) restored cleavage when arginine was present at P1, although not to wild-type levels. These experiments define residues which determine substrate recognition in rhinoviral 2A(pro). ..
- Kropf M, Comes H, Kadereit J. An AFLP clock for the absolute dating of shallow-time evolutionary history based on the intraspecific divergence of southwestern European alpine plant species. Mol Ecol. 2009;18:697-708 pubmed publisher..The temporal limits of our AFLP rate, which is based on intraspecific vicariance events at shallow (i.e. late glacial/Early Holocene) time scales, remains to be tested...
- Ritter M, Vodopiutz J, Lechner S, Moser E, Schmidt Erfurth U, Janecke A. Coexistence of KCNV2 associated cone dystrophy with supernormal rod electroretinogram and MFRP related oculopathy in a Turkish family. Br J Ophthalmol. 2013;97:169-73 pubmed publisher..The coexistence of two independent autosomal recessive disorders should be considered even when dealing with diseases that bear low carrier frequencies in the general population. ..
- Knyazev D, Lents A, Krause E, Ollinger N, Siligan C, Papinski D, et al. The bacterial translocon SecYEG opens upon ribosome binding. J Biol Chem. 2013;288:17941-6 pubmed publisher..Thus, the open probability of the channel must be close to unity. To prevent the otherwise lethal proton leak, a closed post-translational conformation of the SecYEG complex bound to a ribosome must exist...
- Antoine G, Zimmermann K, Plaimauer B, Grillowitzer M, Studt J, Lammle B, et al. ADAMTS13 gene defects in two brothers with constitutional thrombotic thrombocytopenic purpura and normalization of von Willebrand factor-cleaving protease activity by recombinant human ADAMTS13. Br J Haematol. 2003;120:821-4 pubmed..Addition of rADAMTS13 to their plasma restored the VWF-processing pattern to normal, suggesting the potential usefulness of rADAMTS13 for therapy and prophylaxis of familial TTP. ..
- Burger P, Steinborn R, Walzer C, Petit T, Mueller M, Schwarzenberger F. Analysis of the mitochondrial genome of cheetahs (Acinonyx jubatus) with neurodegenerative disease. Gene. 2004;338:111-9 pubmed publisher..The amino acid exchanges in the MTND5 gene were not associated with the occurrence of neurodegenerative disease in captive cheetahs...
- Schrettl M, Bignell E, Kragl C, Joechl C, Rogers T, Arst H, et al. Siderophore biosynthesis but not reductive iron assimilation is essential for Aspergillus fumigatus virulence. J Exp Med. 2004;200:1213-9 pubmed
- Zechner R, Kienesberger P, Haemmerle G, Zimmermann R, Lass A. Adipose triglyceride lipase and the lipolytic catabolism of cellular fat stores. J Lipid Res. 2009;50:3-21 pubmed publisher..This review focuses on the structure, function, and regulation of lipolytic enzymes with a special emphasis on ATGL. ..
- Ganster C, Wernstedt A, Kehrer Sawatzki H, Messiaen L, Schmidt K, Rahner N, et al. Functional PMS2 hybrid alleles containing a pseudogene-specific missense variant trace back to a single ancient intrachromosomal recombination event. Hum Mutat. 2010;31:552-60 pubmed publisher..N775S of so far unknown functional significance, we assessed the H1-carrier frequency in 164 colorectal cancer patients. So far, we found no indication that the variant plays a major role with regard to cancer susceptibility. ..
- Yan S, Bleuler Martinez S, Plaza D, Kunzler M, Aebi M, Joachim A, et al. Galactosylated fucose epitopes in nematodes: increased expression in a Caenorhabditis mutant associated with altered lectin sensitivity and occurrence in parasitic species. J Biol Chem. 2012;287:28276-90 pubmed publisher..Thus, the use of C. elegans mutants aids the identification of novel N-glycan modifications and the definition of in vivo specificities of nematotoxic lectins with potential as anthelmintic agents...
- Ali M, Plattner S, Radakovic Z, Wieczorek K, Elashry A, Grundler F, et al. An Arabidopsis ATPase gene involved in nematode-induced syncytium development and abiotic stress responses. Plant J. 2013;74:852-66 pubmed publisher..An in silico analysis showed that ATPase At1g64110 (and also At4g28000 and At5g52882) belong to the 'meiotic clade' of AAA proteins that includes proteins such as Vps4, katanin, spastin and MSP1. ..
- De Maio N, Schlotterer C, Kosiol C. Linking great apes genome evolution across time scales using polymorphism-aware phylogenetic models. Mol Biol Evol. 2013;30:2249-62 pubmed publisher..Finally, our results are consistent with directional selection acting on coding sequences in relation to exonic splicing enhancers. ..
- Weilner S, Keider V, Winter M, Harreither E, Salzer B, Weiss F, et al. Vesicular Galectin-3 levels decrease with donor age and contribute to the reduced osteo-inductive potential of human plasma derived extracellular vesicles. Aging (Albany NY). 2016;8:16-33 pubmed..Therefore, we suggest that decrease of Galectin-3 in the plasma of elderly contributes to the age-related loss of ODC. ..
- Wieser R, Adam G, Wagner A, Schuller C, Marchler G, Ruis H, et al. Heat shock factor-independent heat control of transcription of the CTT1 gene encoding the cytosolic catalase T of Saccharomyces cerevisiae. J Biol Chem. 1991;266:12406-11 pubmed
- Wolfger H, Mahe Y, Parle McDermott A, Delahodde A, Kuchler K. The yeast ATP binding cassette (ABC) protein genes PDR10 and PDR15 are novel targets for the Pdr1 and Pdr3 transcriptional regulators. FEBS Lett. 1997;418:269-74 pubmed
- Wojnar P, van t Hof W, Merschak P, Lechner M, Redl B. The N-terminal part of recombinant human tear lipocalin/von Ebner's gland protein confers cysteine proteinase inhibition depending on the presence of the entire cystatin-like sequence motifs. Biol Chem. 2001;382:1515-20 pubmed..This protein, which does not possess a fully conserved first cystatin-like motif, is unable to inhibit papain. ..
- Hakeda Suzuki S, Ng J, Tzu J, Dietzl G, Sun Y, Harms M, et al. Rac function and regulation during Drosophila development. Nature. 2002;416:438-42 pubmed..Different Rac activators thus act in different developmental processes. The specific cellular response to Rac activation may be determined more by the upstream activator than the specific Rac protein involved. ..
- Wada T, Joza N, Cheng H, Sasaki T, Kozieradzki I, Bachmaier K, et al. MKK7 couples stress signalling to G2/M cell-cycle progression and cellular senescence. Nat Cell Biol. 2004;6:215-26 pubmed..These data show that the MKK7-JNK-c-Jun signalling pathway couples developmental and environmental cues to CDC2 expression, G2/M cell cycle progression and cellular senescence in fibroblasts. ..
- Paun O, Hörandl E. Evolution of hypervariable microsatellites in apomictic polyploid lineages of Ranunculus carpaticola: directional bias at dinucleotide loci. Genetics. 2006;174:387-98 pubmed
- Baumgartner Parzer S, Fischer G, Vierhapper H. Predisposition for de novo gene aberrations in the offspring of mothers with a duplicated CYP21A2 gene. J Clin Endocrinol Metab. 2007;92:1164-7 pubmed
- Schnorrer F, Kalchhauser I, Dickson B. The transmembrane protein Kon-tiki couples to Dgrip to mediate myotube targeting in Drosophila. Dev Cell. 2007;12:751-66 pubmed..Forced overexpression of Kon stimulates muscle motility. We propose that Kon promotes directed myotube migration and transduces a target-derived signal that initiates the formation of a stable connection. ..
- Chen D, Ahlford A, Schnorrer F, Kalchhauser I, Fellner M, Viragh E, et al. High-resolution, high-throughput SNP mapping in Drosophila melanogaster. Nat Methods. 2008;5:323-9 pubmed publisher..3 kb, and demonstrated the utility of these tools by rapidly mapping 14 mutations that disrupt embryonic muscle patterning. These resources enable high-resolution high-throughput genetic mapping in Drosophila. ..
- Burger R, Akerman A. The effects of linkage and gene flow on local adaptation: a two-locus continent-island model. Theor Popul Biol. 2011;80:272-88 pubmed publisher..We discuss possible consequences for the evolution of genetic architecture, in particular, for the emergence of clusters of tightly linked, slightly beneficial mutations and the evolution of recombination and chromosome inversions. ..
- Santner T, Rieder U, Kreutz C, Micura R. Pseudoknot preorganization of the preQ1 class I riboswitch. J Am Chem Soc. 2012;134:11928-31 pubmed publisher..This study pinpoints how RNA preorganization is a crucial determinant for the adaptive recognition process of RNA and ligand. ..
- Boza G, Kun A, Scheuring I, Dieckmann U. Strategy diversity stabilizes mutualism through investment cycles, phase polymorphism, and spatial bubbles. PLoS Comput Biol. 2012;8:e1002660 pubmed publisher..Identifying the mechanisms maintaining such polymorphism, and hence mutualism in natural communities, provides a significant step towards understanding the coevolution and population dynamics of mutualistic interactions. ..
- Heitzer E, Auer M, Hoffmann E, Pichler M, Gasch C, Ulz P, et al. Establishment of tumor-specific copy number alterations from plasma DNA of patients with cancer. Int J Cancer. 2013;133:346-56 pubmed publisher..This is the first description of such a biphasic distribution in a surprisingly high proportion of cancer patients which may have important implications for tumor diagnosis and monitoring. ..
- Rosa M, Von Harder M, Cigliano R, Schlögelhofer P, Mittelsten Scheid O. The Arabidopsis SWR1 chromatin-remodeling complex is important for DNA repair, somatic recombination, and meiosis. Plant Cell. 2013;25:1990-2001 pubmed publisher..These results provide evidence for the importance of Arabidopsis SWR1 in somatic DNA repair and during meiosis. ..
- Cheng L, Desai J, Miranda C, Duncan J, Qiu W, Nugent A, et al. Human CFEOM1 mutations attenuate KIF21A autoinhibition and cause oculomotor axon stalling. Neuron. 2014;82:334-49 pubmed publisher..The interaction between Kif21a and Map1b is likely to play a critical role in the pathogenesis of CFEOM1 and highlights a selective vulnerability of the developing oculomotor nerve to perturbations of the axon cytoskeleton. ..
- PÃ¶lsler L, Fiegl H, Wimmer K, Oberaigner W, Amberger A, Traunfellner P, et al. High prevalence of BRCA1 stop mutation c.4183C>T in the Tyrolean population: implications for genetic testing. Eur J Hum Genet. 2016;24:258-62 pubmed publisher..On the basis of its high prevalence, we suggest that targeted genetic analysis should be offered to all women with breast or ovarian cancer and ancestry from the LIV region. ..
- Baier G, Piendl W, Redl B, St ffler G. Structure, organization and evolution of the L1 equivalent ribosomal protein gene of the archaebacterium Methanococcus vannielii. Nucleic Acids Res. 1990;18:719-24 pubmed..5% identity with ribosomal protein L1 from E.coli and 41.5% and 33.3% identity with the L1-equivalent proteins from the archaebacteria H.cutirubrum and S.solfataricus respectively...
- Dossenbach Glaninger A, Krugluger W, Schrattbauer K, Eder S, Hopmeier P. Severe factor XI deficiency caused by compound heterozygosity for the type III mutation and a novel insertion in exon 9 (codons 324/325 +G). Br J Haematol. 2001;114:875-7 pubmed
- Crone J, Pfaffle R, Stobbe H, Prayer D, Gomez I, Frisch H. Familial combined pituitary hormone deficiency caused by PROP-1 gene mutation. Growth patterns and MRI studies in untreated subjects. Horm Res. 2002;57:120-6 pubmed..Despite this insufficient therapy, final height was in the lower normal range. Longitudinal growth continued up to the age of 40 years in these subjects. ..
- Allison S, Tao Y, O Riordain G, Mandl C, Harrison S, Heinz F. Two distinct size classes of immature and mature subviral particles from tick-borne encephalitis virus. J Virol. 2003;77:11357-66 pubmed..These proteins thus appear to have the intrinsic ability to form alternative assembly products that could provide important clues about the role of lateral envelope protein interactions in flavivirus assembly. ..
- Janecke A, Hennies H, Günther B, Gansl G, Smolle J, Messmer E, et al. GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form. Am J Med Genet A. 2005;133A:128-31 pubmed..This hypothesis was further substantiated by our observation of a variable clinical course in unrelated KID patients from Austria harboring the common D50N mutation in GJB2. ..
- Weghuber J, Dieterich F, Froschauer E, Svidova S, Schweyen R. Mutational analysis of functional domains in Mrs2p, the mitochondrial Mg2+ channel protein of Saccharomyces cerevisiae. FEBS J. 2006;273:1198-209 pubmed..Data presented support the notion that effects of mutations in Mrs2p on group II intron splicing are a consequence of changes in steady-state mitochondrial Mg2+ concentrations. ..
- Malenica N, Abas L, Benjamins R, Kitakura S, Sigmund H, Jun K, et al. MODULATOR OF PIN genes control steady-state levels of Arabidopsis PIN proteins. Plant J. 2007;51:537-50 pubmed..Thus, in addition to pathways that control PIN localization and transcription, MOP2 and MOP3 appear to be involved in fine-tuning of auxin distribution via post-transcriptional regulation of PIN expression. ..