Experts and Doctors on mutation in Vienna, Austria

Summary

Locale: Vienna, Austria
Topic: mutation

Top Publications

  1. Martens B, Manoharadas S, Hasenöhrl D, Zeichen L, Blasi U. Back to translation: removal of aIF2 from the 5'-end of mRNAs by translation recovery factor in the crenarchaeon Sulfolobus solfataricus. Nucleic Acids Res. 2014;42:2505-11 pubmed publisher
    ..The importance of Trf is further underscored by an impaired protein synthesis during outgrowth from stationary phase in a Sso trf deletion mutant. ..
  2. Fischer H, Koenig U, Eckhart L, Tschachler E. Human caspase 12 has acquired deleterious mutations. Biochem Biophys Res Commun. 2002;293:722-6 pubmed
    ..Based on our data we conclude that functional caspase 12 is lost in humans and that it can therefore not play a role in Alzheimer's disease. ..
  3. Kohlmaier A, Savarese F, Lachner M, Martens J, Jenuwein T, Wutz A. A chromosomal memory triggered by Xist regulates histone methylation in X inactivation. PLoS Biol. 2004;2:E171 pubmed
  4. Heintel D, Kienle D, Shehata M, Krober A, Kroemer E, Schwarzinger I, et al. High expression of lipoprotein lipase in poor risk B-cell chronic lymphocytic leukemia. Leukemia. 2005;19:1216-23 pubmed
    ..001) and a trend for a shorter median overall survival (105 months vs not reached). Our data establish LPL as a prognostic marker and suggest functional consequences of LPL overexpression in patients with B-CLL. ..
  5. Stary A, Kudrnac M, Beyl S, Hohaus A, Timin E, Wolschann P, et al. Molecular dynamics and mutational analysis of a channelopathy mutation in the IIS6 helix of Ca V 1.2. Channels (Austin). 2008;2:216-23 pubmed
    ..2 gating. Our study illustrates that effects of mutations in the lower part of IIS6 may not be localized to the residue or even segment being mutated, but may affect conformations of interacting segments. ..
  6. Schichl Y, Resch U, Lemberger C, Stichlberger D, de Martin R. Novel phosphorylation-dependent ubiquitination of tristetraprolin by mitogen-activated protein kinase/extracellular signal-regulated kinase kinase kinase 1 (MEKK1) and tumor necrosis factor receptor-associated factor 2 (TRAF2). J Biol Chem. 2011;286:38466-77 pubmed publisher
    ..Based on our data, we suggest a model where upon TNF? induction, TTP transits a hypo- to hypermodified state, thereby contributing to the molecular regulation of NF-?B versus JNK signaling cascades. ..
  7. Agusti J, Herold S, Schwarz M, Sanchez P, Ljung K, Dun E, et al. Strigolactone signaling is required for auxin-dependent stimulation of secondary growth in plants. Proc Natl Acad Sci U S A. 2011;108:20242-7 pubmed publisher
  8. Ioannou N, Seddon A, Dalgleish A, Mackintosh D, Solca F, Modjtahedi H. Acquired resistance of pancreatic cancer cells to treatment with gemcitabine and HER-inhibitors is accompanied by increased sensitivity to STAT3 inhibition. Int J Oncol. 2016;48:908-18 pubmed publisher
  9. Hermisson J, McGregor A. Pleiotropic scaling and QTL data. Nature. 2008;456:E3; discussion E4 pubmed publisher

More Information

Publications216 found, 100 shown here

  1. Zellinger B, Akimcheva S, Puizina J, Schirato M, Riha K. Ku suppresses formation of telomeric circles and alternative telomere lengthening in Arabidopsis. Mol Cell. 2007;27:163-9 pubmed
    ..However, telomeres in ku mutants are fully functional, indicating that telomerase efficiently heals ongoing terminal deletions arising from excision of the t circles. ..
  2. de Virgilio M, Kitzmuller C, Schwaiger E, Klein M, Kreibich G, Ivessa N. Degradation of a short-lived glycoprotein from the lumen of the endoplasmic reticulum: the role of N-linked glycans and the unfolded protein response. Mol Biol Cell. 1999;10:4059-73 pubmed
    ..Together, these results suggest that binding of the substrate proteins to UPR-induced chaperones affects their half lives. ..
  3. Schober M, Schaefer M, Knoblich J. Bazooka recruits Inscuteable to orient asymmetric cell divisions in Drosophila neuroblasts. Nature. 1999;402:548-51 pubmed
    ..Our results suggest that direct binding to Bazooka mediates the asymmetric localization of Inscuteable and connects the asymmetric division of neuroblasts to the axis of epithelial apical-basal polarity. ..
  4. Rosner M, Freilinger A, Hengstschlager M. The tuberous sclerosis genes and regulation of the cyclin-dependent kinase inhibitor p27. Mutat Res. 2006;613:10-6 pubmed
    ..Here we review the current knowledge on how mutations within the TSC genes could trigger deregulation of stability and localization of the tumor suppressor p27. ..
  5. Kralovics R. Genetic complexity of myeloproliferative neoplasms. Leukemia. 2008;22:1841-8 pubmed publisher
    ..Furthermore, the role of uniparental disomy in MPN and certain aspects of MPN therapy are discussed. ..
  6. Kanno T, Bucher E, Daxinger L, Huettel B, Kreil D, Breinig F, et al. RNA-directed DNA methylation and plant development require an IWR1-type transcription factor. EMBO Rep. 2010;11:65-71 pubmed publisher
    ..These data suggest that DMS4 might be a regulatory factor for several RNA polymerases, thus explaining its diverse roles in the plant. ..
  7. Coudevylle N, Geist L, Hötzinger M, Hartl M, Kontaxis G, Bister K, et al. The v-myc-induced Q83 lipocalin is a siderocalin. J Biol Chem. 2010;285:41646-52 pubmed publisher
    ..These data provide a first insight into the molecular details of siderophore binding and delineate the common molecular properties defining the siderocalin protein family. ..
  8. Thaisuchat H, Baumann M, Pontiller J, Hesse F, Ernst W. Identification of a novel temperature sensitive promoter in CHO cells. BMC Biotechnol. 2011;11:51 pubmed publisher
    ..The CHO S100a6 promoter can be characterized as cold-shock responsive with the potential for improving process performance of mammalian expression systems. ..
  9. Schwarz B, Ertl R, Zimmer S, Netzmann Y, Klein D, Schwendenwein I, et al. Estimated prevalence of the GYS-1 mutation in healthy Austrian Haflingers. Vet Rec. 2011;169:583 pubmed publisher
    ..No significant differences could be found in the other parameters. ..
  10. Stockner T, Koschak A. What can naturally occurring mutations tell us about Ca(v)1.x channel function?. Biochim Biophys Acta. 2013;1828:1598-607 pubmed publisher
    ..This article is part of a Special Issue entitled: Calcium channels. ..
  11. Dönmez Cakil Y, Khunweeraphong N, Parveen Z, Schmid D, Artaker M, Ecker G, et al. Pore-exposed tyrosine residues of P-glycoprotein are important hydrogen-bonding partners for drugs. Mol Pharmacol. 2014;85:420-8 pubmed publisher
    ..The present study demonstrates the importance of domain interface tyrosine residues for interaction of small molecules with P-glycoprotein. ..
  12. Hofbauer H, Schopf F, Schleifer H, Knittelfelder O, Pieber B, Rechberger G, et al. Regulation of gene expression through a transcriptional repressor that senses acyl-chain length in membrane phospholipids. Dev Cell. 2014;29:729-39 pubmed publisher
    ..These findings reveal an unexpected regulatory link between the major energy-sensing kinase, membrane lipid composition, and transcription. ..
  13. Hilberg F, Aguzzi A, Howells N, Wagner E. c-jun is essential for normal mouse development and hepatogenesis. Nature. 1993;365:179-81 pubmed
    ..Interestingly, c-jun-/- ES cells can participate efficiently in the development of all somatic cells in chimaeric mice except liver cells, further suggesting an essential function of c-Jun in hepatogenesis. ..
  14. Loidl J, Scherthan H. Organization and pairing of meiotic chromosomes in the ciliate Tetrahymena thermophila. J Cell Sci. 2004;117:5791-801 pubmed
    ..Tetrahymena might, therefore, pose a case of interference in the absence of a synaptonemal complex...
  15. Hill T, Später D, Taketo M, Birchmeier W, Hartmann C. Canonical Wnt/beta-catenin signaling prevents osteoblasts from differentiating into chondrocytes. Dev Cell. 2005;8:727-38 pubmed
    ..Thus, canonical Wnt/beta-catenin signaling is essential for skeletal lineage differentiation, preventing transdifferentiation of osteoblastic cells into chondrocytes. ..
  16. Steiner A, Müller L, Rybak K, Vodermaier V, Facher E, Thellmann M, et al. The Membrane-Associated Sec1/Munc18 KEULE is Required for Phragmoplast Microtubule Reorganization During Cytokinesis in Arabidopsis. Mol Plant. 2016;9:528-40 pubmed publisher
    ..Our findings identify the SEC1/Munc18 protein KEULE as a central regulatory node in the coordination of membrane and microtubule dynamics during plant cytokinesis. ..
  17. Jawhar M, Schwaab J, Naumann N, Horny H, Sotlar K, Haferlach T, et al. Response and progression on midostaurin in advanced systemic mastocytosis: KIT D816V and other molecular markers. Blood. 2017;130:137-145 pubmed publisher
    ..In midostaurin-treated advSM patients, the complexity and dynamics of mutational profiles significantly affect response, progression, and prognosis. ..
  18. Shirayama M, Zachariae W, Ciosk R, Nasmyth K. The Polo-like kinase Cdc5p and the WD-repeat protein Cdc20p/fizzy are regulators and substrates of the anaphase promoting complex in Saccharomyces cerevisiae. EMBO J. 1998;17:1336-49 pubmed
    ..Accumulation of Cdc20p contributes to activation of Pds1p proteolysis in metaphase, whereas accumulation of Cdc5p facilitates the activation of Clb2p proteolysis. ..
  19. Behrens A, Sibilia M, Wagner E. Amino-terminal phosphorylation of c-Jun regulates stress-induced apoptosis and cellular proliferation. Nat Genet. 1999;21:326-9 pubmed
    ..Our results provide evidence that JNP is dispensable for mouse development, and identify c-Jun as the essential substrate of JNK signalling during kainate-induced neuronal apoptosis. ..
  20. Stuhlmeier K, Pollaschek C. Adenovirus-mediated gene transfer of mutated IkappaB kinase and IkappaBalpha reveal NF-kappaB-dependent as well as NF-kappaB-independent pathways of HAS1 activation. J Biol Chem. 2005;280:42766-73 pubmed
    ..Taken together, HAS1 can be activated by distinct pathways; IL-1beta utilizes NF-kappaB, and TGFbeta1 does not. Furthermore, HAS2 and HAS3 are activated without the involvement of NF-kappaB. ..
  21. Auner V, Kriegshäuser G, Tong D, Horvat R, Reinthaller A, Mustea A, et al. KRAS mutation analysis in ovarian samples using a high sensitivity biochip assay. BMC Cancer. 2009;9:111 pubmed publisher
    ..However, in line with experience from colorectal cancer and non-small-cell-lung cancer (NSCLC), it may be important for prediction of response to EGFR-targeted therapies. ..
  22. Kyrle P, Rosendaal F, Eichinger S. Risk assessment for recurrent venous thrombosis. Lancet. 2010;376:2032-9 pubmed publisher
    ..Analysis of preliminary data suggests that risk assessment can also be refined through integration of prothrombotic coagulation changes and clinical risk factors. ..
  23. Baudrimont A, Penkner A, Woglar A, Mamnun Y, Hulek M, Struck C, et al. A new thermosensitive smc-3 allele reveals involvement of cohesin in homologous recombination in C. elegans. PLoS ONE. 2011;6:e24799 pubmed publisher
    ..Our data suggest that recombinational DNA repair makes higher demands on cohesins than does chromosome segregation. ..
  24. Wozniak Knopp G, Stadlmann J, Ruker F. Stabilisation of the Fc fragment of human IgG1 by engineered intradomain disulfide bonds. PLoS ONE. 2012;7:e30083 pubmed publisher
    ..5°C for CysP4, 15.5°C for CysP2 and 19°C for the CysP2 and CysP4 disulfide bonds combined in one molecule...
  25. Birner P, Beer A, Vinatzer U, Stary S, Hoftberger R, Nirtl N, et al. MAPKAP kinase 2 overexpression influences prognosis in gastrointestinal stromal tumors and associates with copy number variations on chromosome 1 and expression of p38 MAP kinase and ETV1. Clin Cancer Res. 2012;18:1879-87 pubmed publisher
    ..Patients with low-risk GISTs showing MAPKAPK2 overexpression might profit from early adjuvant tyrosine kinase inhibitor therapy. ..
  26. Salzer E, Santos Valente E, Klaver S, Ban S, Emminger W, Prengemann N, et al. B-cell deficiency and severe autoimmunity caused by deficiency of protein kinase C ?. Blood. 2013;121:3112-6 pubmed publisher
    ..Our study uncovers human PRKCD deficiency as a novel cause of common variable immunodeficiency-like B-cell deficiency with severe autoimmunity. ..
  27. Fitzgerald J, Zimprich A, Carvajal Berrio D, Schindler K, Maurer B, Schulte C, et al. Metformin reverses TRAP1 mutation-associated alterations in mitochondrial function in Parkinson's disease. Brain. 2017;140:2444-2459 pubmed publisher
    ..These findings offer new insight into mitochondrial pathologies in Parkinson's disease and provide new prospects for targeted therapies. ..
  28. Frei K, Szuhai K, Lucas T, Weipoltshammer K, Schöfer C, Ramsebner R, et al. Connexin 26 mutations in cases of sensorineural deafness in eastern Austria. Eur J Hum Genet. 2002;10:427-32 pubmed
    ..7% (2 out of 120). The high prevalence of the 35delG mutation in eastern Austria would therefore allow screening of individuals and family members with Cx26 dependent deafness by a highly specific and semi-automated method. ..
  29. Huettel B, Kanno T, Daxinger L, Aufsatz W, Matzke A, Matzke M. Endogenous targets of RNA-directed DNA methylation and Pol IV in Arabidopsis. EMBO J. 2006;25:2828-36 pubmed
    ..We propose that DRD1 and Pol IVb establish a basal level of silencing that can potentially be reversed in euchromatin, and further reinforced in heterochromatin by other proteins that induce more stable modifications. ..
  30. Campregher C, Scharl T, Nemeth M, Honeder C, Jascur T, Boland C, et al. The nucleotide composition of microsatellites impacts both replication fidelity and mismatch repair in human colorectal cells. Hum Mol Genet. 2010;19:2648-57 pubmed publisher
    ..These findings indicate that both replication fidelity and MMR are affected by the microsatellite's nucleotide composition. ..
  31. Mechtler T, Stary S, Metz T, De Jesus V, Greber Platzer S, Pollak A, et al. Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria. Lancet. 2012;379:335-41 pubmed publisher
  32. Seidel M, Rami B, Item C, Schober E, Zeitlhofer P, Huber W, et al. Concurrent FOXP3- and CTLA4-associated genetic predisposition and skewed X chromosome inactivation in an autoimmune disease-prone family. Eur J Endocrinol. 2012;167:131-4 pubmed publisher
  33. Preusser M, Capper D, Berghoff A, Horvat R, Wrba F, Schindl M, et al. Expression of BRAF V600E mutant protein in epithelial ovarian tumors. Appl Immunohistochem Mol Morphol. 2013;21:159-64 pubmed publisher
    ..For reliable assessment of the BRAF V600E status in ovarian epithelial tumor samples, an integrated approach using immunohistochemistry and genetic analysis seems advisable, as both methods lead to incorrect results in some cases. ..
  34. Herold S, Bischof R, Metz B, Seiboth B, Kubicek C. Xylanase gene transcription in Trichoderma reesei is triggered by different inducers representing different hemicellulosic pentose polymers. Eukaryot Cell. 2013;12:390-8 pubmed publisher
    ..We conclude that the expression of the T. reesei xylanases can be induced by both D-xylose and L-arabinose, but independently of each other and by using different inducing metabolites. ..
  35. Rebbeck T, Mitra N, Wan F, Healey S, McGuffog L, Chenevix Trench G, et al. Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer. JAMA. 2015;313:1347-61 pubmed publisher
    ..With appropriate validation, these data may have implications for risk assessment and cancer prevention decision making for carriers of BRCA1 and BRCA2 mutations. ..
  36. Nutt S, Vambrie S, Steinlein P, Kozmik Z, Rolink A, Weith A, et al. Independent regulation of the two Pax5 alleles during B-cell development. Nat Genet. 1999;21:390-5 pubmed
    ..Similar allele-specific regulation may be a common mechanism causing the haploinsufficiency and frequent association of other Pax genes with human disease. ..
  37. Mandl C, Kroschewski H, Allison S, Kofler R, Holzmann H, Meixner T, et al. Adaptation of tick-borne encephalitis virus to BHK-21 cells results in the formation of multiple heparan sulfate binding sites in the envelope protein and attenuation in vivo. J Virol. 2001;75:5627-37 pubmed
    ..Recognition of this principle may be of practical value for designing attenuated flavivirus strains in the future. ..
  38. Dickson B. Development. Wiring the brain with insulin. Science. 2003;300:440-1 pubmed
  39. Loeser S, Loser K, Bijker M, Rangachari M, van der Burg S, Wada T, et al. Spontaneous tumor rejection by cbl-b-deficient CD8+ T cells. J Exp Med. 2007;204:879-91 pubmed
    ..Inhibition of Cbl-b is a novel approach to stimulate long-lasting immunity against cancer. ..
  40. Klopf E, Paskova L, Sole C, Mas G, Petryshyn A, Posas F, et al. Cooperation between the INO80 complex and histone chaperones determines adaptation of stress gene transcription in the yeast Saccharomyces cerevisiae. Mol Cell Biol. 2009;29:4994-5007 pubmed publisher
    ..Thus, chromatin remodeling by INO80 in cooperation with Spt6 determines the shape of the expression profile under acute stress conditions, possibly by an elongation-dependent mechanism. ..
  41. Pirker R, Herth F, Kerr K, Filipits M, Taron M, Gandara D, et al. Consensus for EGFR mutation testing in non-small cell lung cancer: results from a European workshop. J Thorac Oncol. 2010;5:1706-13 pubmed publisher
    ..The recommendations of the workshop will help implement EGFR mutation testing in Europe and, thereby, optimize the use of EGFR-TKIs in clinical practice. ..
  42. Haura E, Muller A, Breitwieser F, Li J, Grebien F, Colinge J, et al. Using iTRAQ combined with tandem affinity purification to enhance low-abundance proteins associated with somatically mutated EGFR core complexes in lung cancer. J Proteome Res. 2011;10:182-90 pubmed publisher
    ..Ultimately, this approach may uncover proteins that were previously unknown or only suspected as members of core protein complexes. ..
  43. Kovacs G, Molnár K, Keller E, Botond G, Budka H, Laszlo L. Intraneuronal immunoreactivity for the prion protein distinguishes a subset of E200K genetic from sporadic Creutzfeldt-Jakob Disease. J Neuropathol Exp Neurol. 2012;71:223-32 pubmed publisher
  44. Chopra Dewasthaly R, Baumgartner M, Gamper E, Innerebner C, Zimmermann M, Schilcher F, et al. Role of Vpma phase variation in Mycoplasma agalactiae pathogenesis. FEMS Immunol Med Microbiol. 2012;66:307-22 pubmed publisher
    ..This is the first study where mycoplasma 'phase-locked' mutants are tested in vivo to elucidate the role of phase variation during infection...
  45. Siddique S, Sobczak M, Tenhaken R, Grundler F, Bohlmann H. Cell wall ingrowths in nematode induced syncytia require UGD2 and UGD3. PLoS ONE. 2012;7:e41515 pubmed publisher
    ..schachtii resulting in smaller syncytia, lower number of developing nematodes, and smaller females...
  46. Lötsch D, Ghanim B, Laaber M, Wurm G, Weis S, Lenz S, et al. Prognostic significance of telomerase-associated parameters in glioblastoma: effect of patient age. Neuro Oncol. 2013;15:423-32 pubmed publisher
    ..005; >60 y, both ns). Telomerase activation is not an independent prognostic parameter in GBM but predicts aggressive tumor behavior solely in a younger patient cohort. ..
  47. Schweiger T, Starkl V, Glueck O, Glogner C, Traxler D, Jedamzik J, et al. Clinical impact of c-MET expression and mutational status in patients with colorectal cancer lung metastases. Eur J Cardiothorac Surg. 2016;49:1103-11; discussion 1111 pubmed publisher
    ..Moreover, this work suggests that the value of c-MET tyrosine kinase inhibitors in the treatment of patients with CRC lung metastases should be assessed in clinical trials. ..
  48. Valent P, Sperr W, Samorapoompichit P, Geissler K, Lechner K, Horny H, et al. Myelomastocytic overlap syndromes: biology, criteria, and relationship to mastocytosis. Leuk Res. 2001;25:595-602 pubmed
    ..Whether these neoplasms display aberrant gene expression (or gene defects) or represent 'pre-pre-mast cell leukemias', remains unknown...
  49. Pabinger I, Grafenhofer H. Pregnancy-associated thrombosis. Wien Klin Wochenschr. 2003;115:482-4 pubmed
    ..Post partum prophylaxis should be given in all women with an increased risk for VTE. ..
  50. Sonnleitner E, Schuster M, Sorger Domenigg T, Greenberg E, Blasi U. Hfq-dependent alterations of the transcriptome profile and effects on quorum sensing in Pseudomonas aeruginosa. Mol Microbiol. 2006;59:1542-58 pubmed
    ..The model is corroborated by the observation that a rsmY(-) mutant mimics the hfq(-) phenotype with regard to rhlI expression. ..
  51. Joza N, Galindo K, Pospisilik J, Benit P, Rangachari M, Kanitz E, et al. The molecular archaeology of a mitochondrial death effector: AIF in Drosophila. Cell Death Differ. 2008;15:1009-18 pubmed publisher
    ..In conclusion, we show that Drosophila AIF is a mitochondrial effector of cell death that plays roles in developmentally regulated cell death and normal mitochondrial function. ..
  52. Greisenegger E, Novak N, Maintz L, Bieber T, Zimprich F, Haubenberger D, et al. Analysis of four prevalent filaggrin mutations (R501X, 2282del4, R2447X and S3247X) in Austrian and German patients with atopic dermatitis. J Eur Acad Dermatol Venereol. 2010;24:607-10 pubmed publisher
    ..Furthermore, we observed an overrepresentation of null alleles in AD patients with concomitant asthma compared with those without this co-morbidity. Our data confirm and extend the knowledge of the influence of FLG mutations in AD. ..
  53. Koenig X, Dysek S, Kimbacher S, Mike A, Cervenka R, Lukacs P, et al. Voltage-gated ion channel dysfunction precedes cardiomyopathy development in the dystrophic heart. PLoS ONE. 2011;6:e20300 pubmed publisher
    ..Ion channel impairments precede pathology development in the dystrophic heart, and may thus be considered potential cardiomyopathy triggers. ..
  54. Karimi Aghcheh R, Druzhinina I, Kubicek C. The putative protein methyltransferase LAE1 of Trichoderma atroviride is a key regulator of asexual development and mycoparasitism. PLoS ONE. 2013;8:e67144 pubmed publisher
    ..Our study shows T. atroviride LAE1 is essential for asexual reproduction in the dark and for defense and parasitism on other fungi. ..
  55. Barlow D, Stöger R, Herrmann B, Saito K, Schweifer N. The mouse insulin-like growth factor type-2 receptor is imprinted and closely linked to the Tme locus. Nature. 1991;349:84-7 pubmed
    ..We also demonstrate that embryos express Igf2r only from the maternal chromosome, and that Tcp-1, Plg and Sod-2 are expressed from both chromosomes. Therefore Igf2r is imprinted and closely linked or identical to Tme. ..
  56. Hutterer A, Berdnik D, Wirtz Peitz F, Zigman M, Schleiffer A, Knoblich J. Mitotic activation of the kinase Aurora-A requires its binding partner Bora. Dev Cell. 2006;11:147-57 pubmed
    ..We propose a model in which activation of Cdc2 initiates the release of Bora into the cytoplasm where it can bind and activate Aurora-A. ..
  57. Uanschou C, Siwiec T, Pedrosa Harand A, Kerzendorfer C, Sanchez Moran E, Novatchkova M, et al. A novel plant gene essential for meiosis is related to the human CtIP and the yeast COM1/SAE2 gene. EMBO J. 2007;26:5061-70 pubmed
    ..Interestingly, we identified CtIP, an essential protein interacting with the DNA repair machinery, as the mammalian homologue of Com1/Sae2, with important implications for the molecular role of CtIP. ..
  58. Kovács G. [Genetic background of human prion diseases]. Ideggyogy Sz. 2007;60:438-46 pubmed
    ..The PRNP codon 129 polymorphism was examined in non-prion diseases. Some studies suggest that this polymorphism may have influence on the cognitive decline and early onset Alzheimer's disease. ..
  59. Mlitz V, Latreille J, Gardinier S, Jdid R, Drouault Y, Hufnagl P, et al. Impact of filaggrin mutations on Raman spectra and biophysical properties of the stratum corneum in mild to moderate atopic dermatitis. J Eur Acad Dermatol Venereol. 2012;26:983-90 pubmed publisher
    ..The combined measurement of several filaggrin breakdown products in the SC may be useful to specifically predict the presence of FLG mutations. ..
  60. Finsterer J, Lässer S, Stöphasius E. Dementia from the ABCD1 mutation c.1415-1416delAG in a female carrier. Gene. 2013;530:155-7 pubmed publisher
    ..We report a unique female X-ALD carrier presenting with severe, progressive dementia, paraspasticity, sphincteric dysfunction, and multisystem disease...
  61. Surana U, Robitsch H, Price C, Schuster T, Fitch I, Futcher A, et al. The role of CDC28 and cyclins during mitosis in the budding yeast S. cerevisiae. Cell. 1991;65:145-61 pubmed
    ..Our results are consistent with CDC28 function being required in both G1 and mitosis. Its mitotic role, we believe, involves interaction with a family of at least four G2-specific cyclins. ..
  62. Wallis M, Streicher B, Wank H, von Ahsen U, Clodi E, Wallace S, et al. In vitro selection of a viomycin-binding RNA pseudoknot. Chem Biol. 1997;4:357-66 pubmed
    ..We therefore conclude that this peptide antibiotic has a strong selectivity for particular RNA pseudoknots. ..
  63. Bachtrog D, Agis M, Imhof M, Schlotterer C. Microsatellite variability differs between dinucleotide repeat motifs-evidence from Drosophila melanogaster. Mol Biol Evol. 2000;17:1277-85 pubmed
    ..Similar differences in mutation rates were obtained by an alternative method which estimates microsatellite mutation rates from their genomic length distribution. ..
  64. Eferl R, Ricci R, Kenner L, Zenz R, David J, Rath M, et al. Liver tumor development. c-Jun antagonizes the proapoptotic activity of p53. Cell. 2003;112:181-92 pubmed
    ..These data indicate that c-Jun prevents apoptosis by antagonizing p53 activity, illustrating a mechanism that might contribute to the early stages of human HCC development. ..
  65. Joza N, Oudit G, Brown D, Benit P, Kassiri Z, Vahsen N, et al. Muscle-specific loss of apoptosis-inducing factor leads to mitochondrial dysfunction, skeletal muscle atrophy, and dilated cardiomyopathy. Mol Cell Biol. 2005;25:10261-72 pubmed
  66. Hohensinner P, Kaun C, Rychli K, Niessner A, Pfaffenberger S, Rega G, et al. Macrophage colony stimulating factor expression in human cardiac cells is upregulated by tumor necrosis factor-alpha via an NF-kappaB dependent mechanism. J Thromb Haemost. 2007;5:2520-8 pubmed
    ..This expression of M-CSF in the human heart and its upregulation by TNF-alpha might contribute to monocyte and macrophage survival and differentiation. ..
  67. Dragosits M, Stadlmann J, Albiol J, Baumann K, Maurer M, Gasser B, et al. The effect of temperature on the proteome of recombinant Pichia pastoris. J Proteome Res. 2009;8:1380-92 pubmed publisher
    ..These data indicate that folding stress is generally decreased at lower cultivation temperatures, enabling more efficient heterologous protein secretion in P. pastoris host cells. ..
  68. Schmetterer K, Seidel M, Körmöczi U, Rottal A, Schwarz K, Matthes Martin S, et al. Two newly diagnosed HLA class II-deficient patients identified by rapid vector-based complementation analysis reveal discoordinate invariant chain expression levels. Int Arch Allergy Immunol. 2010;152:390-400 pubmed publisher
    ..Analysis of patients' intracellular Ii and their parents' surface HLA class II expression levels might help to identify CIITA-deficient patients already during initial phenotyping. ..
  69. Postiglione M, Jüschke C, Xie Y, Haas G, Charalambous C, Knoblich J. Mouse inscuteable induces apical-basal spindle orientation to facilitate intermediate progenitor generation in the developing neocortex. Neuron. 2011;72:269-84 pubmed publisher
    ..Our results indicate that the orientation of progenitor cell divisions is important for correct lineage specification in the developing mammalian brain. ..
  70. Keuerleber S, Thurner P, Gruber C, Zezula J, Freissmuth M. Reengineering the collision coupling and diffusion mode of the A2A-adenosine receptor: palmitoylation in helix 8 relieves confinement. J Biol Chem. 2012;287:42104-18 pubmed publisher
    ..The experiments allowed for visualizing local confinement of an agonist-activated G protein-coupled receptor in an area consistent with the dimensions of a lipid raft. ..
  71. Martens B, Amman F, Manoharadas S, Zeichen L, Orell A, Albers S, et al. Alterations of the transcriptome of Sulfolobus acidocaldarius by exoribonuclease aCPSF2. PLoS ONE. 2013;8:e76569 pubmed publisher
    ..This was exemplarily verified for two transcripts by Northern-blot analyses, showing for the first time that aCPSF2 proteins play a role in 5' to 3' directional mRNA decay in the crenarchaeal clade of Archaea. ..
  72. Thurner P, Gsandtner I, Kudlacek O, Choquet D, Nanoff C, Freissmuth M, et al. A two-state model for the diffusion of the A2A adenosine receptor in hippocampal neurons: agonist-induced switch to slow mobility is modified by synapse-associated protein 102 (SAP102). J Biol Chem. 2014;289:9263-74 pubmed publisher
    ..The extended carboxyl terminus allows for regulatory input by scaffolding molecules such as SAP102. ..
  73. Schwaighofer A, Pechlaner M, Oostenbrink C, Kotlowski C, Araman C, Mastrogiacomo R, et al. Insights into structural features determining odorant affinities to honey bee odorant binding protein 14. Biochem Biophys Res Commun. 2014;446:1042-6 pubmed publisher
    ..Furthermore, we show that OBP14 stability is very sensitive to the position and type of functional groups in the odorant. ..
  74. Silvestri V, Barrowdale D, Mulligan A, Neuhausen S, Fox S, Karlan B, et al. Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2. Breast Cancer Res. 2016;18:15 pubmed publisher
    ..e., high histologic grade). These findings could lead to the development of gender-specific risk prediction models and guide clinical strategies appropriate for MBC management. ..
  75. Baumgartner C, Cerny Reiterer S, Sonneck K, Mayerhofer M, Gleixner K, Fritz R, et al. Expression of activated STAT5 in neoplastic mast cells in systemic mastocytosis: subcellular distribution and role of the transforming oncoprotein KIT D816V. Am J Pathol. 2009;175:2416-29 pubmed publisher
    ..Together, our data show that neoplastic mast cells express cytoplasmic and nuclear pSTAT5, that KIT D816V promotes STAT5-activation, and that STAT5-activation contributes to growth of neoplastic mast cells...
  76. Pandey R, Pabinger S, Kriegner A, Weinhäusel A. ClinQC: a tool for quality control and cleaning of Sanger and NGS data in clinical research. BMC Bioinformatics. 2016;17:56 pubmed publisher
    ..ClinQC is written in Python with multiprocessing capability, run on all major operating systems and is available at https://sourceforge.net/projects/clinqc. ..
  77. Hudelist G, Wagner T, Rosner M, Fink Retter A, Gschwantler Kaulich D, Czerwenka K, et al. Intratumoral IGF-I protein expression is selectively upregulated in breast cancer patients with BRCA1/2 mutations. Endocr Relat Cancer. 2007;14:1053-62 pubmed
  78. Schuster A, Tisch D, Seidl Seiboth V, Kubicek C, Schmoll M. Roles of protein kinase A and adenylate cyclase in light-modulated cellulase regulation in Trichoderma reesei. Appl Environ Microbiol. 2012;78:2168-78 pubmed publisher
    ..Consequently, both adenylate cyclase and protein kinase A are involved in light-modulated cellulase gene expression in T. reesei and have a dampening effect on the light responsiveness of this process. ..
  79. Goncalves A, Karayel E, Rice G, Bennett K, Crow Y, Superti Furga G, et al. SAMHD1 is a nucleic-acid binding protein that is mislocalized due to aicardi-goutières syndrome-associated mutations. Hum Mutat. 2012;33:1116-22 pubmed publisher
    ..Overall, these data suggest that SAMHD1 has a role in the nucleus that, if disrupted by mutation, leads to cytosolic accumulation of SAMHD1 and autoimmune disease...
  80. Concin N, Zeillinger C, Tong D, Stimpfl M, König M, Printz D, et al. Comparison of p53 mutational status with mRNA and protein expression in a panel of 24 human breast carcinoma cell lines. Breast Cancer Res Treat. 2003;79:37-46 pubmed
    ..Therefore, direct DNA analyses and functional assays remain the only methods for the reliable detection of p53 mutations. ..
  81. Kovacs G, Murrell J, Horvath S, Haraszti L, Majtenyi K, Molnar M, et al. TARDBP variation associated with frontotemporal dementia, supranuclear gaze palsy, and chorea. Mov Disord. 2009;24:1843-7 pubmed publisher
    ..This is the first report of a TARDBP variation associated with a neurodegenerative syndrome other than ALS...
  82. Zimprich A. Genetics of Parkinson's disease and essential tremor. Curr Opin Neurol. 2011;24:318-23 pubmed publisher
    ..Except for LINGO1, no other risk gene has so far been identified. New technologies such as next generation high throughput sequencing might help to identify more risk genes. ..
  83. Königsberg R, Hulla W, Klimpfinger M, Reiner Concin A, Steininger T, Büchler W, et al. Clinical and economic aspects of KRAS mutational status as predictor for epidermal growth factor receptor inhibitor therapy in metastatic colorectal cancer patients. Oncology. 2011;81:359-64 pubmed publisher
    ..42 (SD ±336.28) per patient per cycle. The routine use of KRAS screening is a cost-effective strategy. Costs of unnecessary monoclonal EGFR inhibitor treatment can be saved in MUT patients. ..
  84. Gallagher C, Knoblich J. The conserved c2 domain protein lethal (2) giant discs regulates protein trafficking in Drosophila. Dev Cell. 2006;11:641-53 pubmed
    ..Our experiments suggest that Lgd is a critical regulator of endocytosis that is not present in yeast and acts in the degradative pathway after Hrs. ..
  85. Sachsenmaier N, Waldsich C. Mss116p: a DEAD-box protein facilitates RNA folding. RNA Biol. 2013;10:71-82 pubmed publisher
    ..Here we summarize the ongoing efforts to understand the novel role of DEAD-box proteins in RNA folding. ..
  86. Peterlongo P, Chang Claude J, Moysich K, Rudolph A, Schmutzler R, Simard J, et al. Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. Cancer Epidemiol Biomarkers Prev. 2015;24:308-16 pubmed publisher
    ..Genome-wide association studies have been more successful at identifying genetic modifiers of BRCA1/2 penetrance than candidate gene studies. ..
  87. Finsterer J, Wakil S. Stroke-like episodes, peri-episodic seizures, and MELAS mutations. Eur J Paediatr Neurol. 2016;20:824-829 pubmed publisher
    ..All patients with SLEs need to have an EEG recorded irrespective if they have manifesting seizures or not. There are no mtDNA or nDNA mutations which predispose for SLEs with seizures. ..
  88. Sturlan S, Oberhuber G, Beinhauer B, Tichy B, Kappel S, Wang J, et al. Interleukin-10-deficient mice and inflammatory bowel disease associated cancer development. Carcinogenesis. 2001;22:665-71 pubmed
    ..Normal expression of the TGF-beta II receptors hints at genetic alterations in other members of the TGF-beta receptor signal transduction pathway. ..
  89. Honeder C, Campregher C, Zens B, Scharl T, Gasche C. Improvement of replication fidelity by certain mesalazine derivatives. Int J Oncol. 2012;40:1331-8 pubmed publisher
  90. Hoermann G, Cerny Reiterer S, Perne A, Klauser M, Hoetzenecker K, Klein K, et al. Identification of oncostatin M as a STAT5-dependent mediator of bone marrow remodeling in KIT D816V-positive systemic mastocytosis. Am J Pathol. 2011;178:2344-56 pubmed publisher
  91. Burtscher V, Schicker K, Novikova E, Pohn B, Stockner T, Kugler C, et al. Spectrum of Cav1.4 dysfunction in congenital stationary night blindness type 2. Biochim Biophys Acta. 2014;1838:2053-65 pubmed publisher
    ..These may explain subtle variations in the clinical manifestation and must be taken into account, if channel function is to be restored by pharmacochaperones or related approaches. ..
  92. Foerster A, Dinh H, Sedman L, Wohlrab B, Mittelsten Scheid O. Genetic rearrangements can modify chromatin features at epialleles. PLoS Genet. 2011;7:e1002331 pubmed publisher
    ..Similar effects may also be involved in gene expression and chromatin changes in the vicinity of transposon insertions or excisions, recombination events, or DNA repair processes and could contribute to the origin of new epialleles. ..