Experts and Doctors on mutation in Germany


Locale: Germany
Topic: mutation

Top Publications

  1. Epperlein H, Meulemans D, Bronner Fraser M, Steinbeisser H, Selleck M. Analysis of cranial neural crest migratory pathways in axolotl using cell markers and transplantation. Development. 2000;127:2751-61 pubmed
  2. Kietzmann T, Samoylenko A, Immenschuh S. Transcriptional regulation of heme oxygenase-1 gene expression by MAP kinases of the JNK and p38 pathways in primary cultures of rat hepatocytes. J Biol Chem. 2003;278:17927-36 pubmed
    ..Thus, the HO-1 CRE/AP-1 element mediates HO-1 gene induction via activation of JNK/c-Jun whereas p38 isoforms act through a different mechanism via the E-box. ..
  3. Lemm I, Girard C, Kuhn A, Watkins N, Schneider M, Bordonné R, et al. Ongoing U snRNP biogenesis is required for the integrity of Cajal bodies. Mol Biol Cell. 2006;17:3221-31 pubmed
    ..Altogether, our data suggest that CBs have a modular structure with distinct domains for spliceosomal U snRNPs and snoRNPs. ..
  4. Engel K, Hohne W, Haberle J. Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene. Hum Mutat. 2009;30:300-7 pubmed publisher
    ..Enzymatic studies have been done in bacterial and human cell systems. However, the prognostic value of genetic aberrations with respect to their effect on protein function and clinical manifestation remains uncertain. ..
  5. Lippert U, Diao D, Barak N, Ferrari D. Conserved structural and functional properties of D-domain containing redox-active and -inactive protein disulfide isomerase-related protein chaperones. J Biol Chem. 2007;282:11213-20 pubmed
  6. Stiebritz M, Wengrzik S, Klein D, Richter J, Srebrzynski A, Weiler S, et al. Computational design of a chain-specific tetracycline repressor heterodimer. J Mol Biol. 2010;403:371-85 pubmed publisher
    ..This results in a marked decrease in thermal stability and a drastic reduction in the solubility of the T-A(A)A(A) homodimer in comparison to the designed T-A(A)B heterodimer variant. ..
  7. Schuessler A, Sampaio K, Straschewski S, Sinzger C. Mutational mapping of pUL131A of human cytomegalovirus emphasizes its central role for endothelial cell tropism. J Virol. 2012;86:504-12 pubmed publisher
    ..In conclusion, the unusual sensitivity to mutations, together with the remarkable conservation of the UL131A protein, emphasizes its particular role for EC tropism of HCMV...
  8. Hammann C, van Pouderoyen G, Nar H, Gomis Rüth F, Messerschmidt A, Huber R, et al. Crystal structures of modified apo-His117Gly and apo-His46Gly mutants of Pseudomonas aeruginosa azurin. J Mol Biol. 1997;266:357-66 pubmed
    ..This shift causes a slight rearrangement of the monomers within the tetramer such that one local dyad becomes a crystallographic dyad parallel to the c-axis. This leads to a change in the space group from P2(1)2(1)2(1) to P2(1)2(1)2. ..
  9. Richter G, Fischer M, Krieger C, Eberhardt S, Luttgen H, Gerstenschläger I, et al. Biosynthesis of riboflavin: characterization of the bifunctional deaminase-reductase of Escherichia coli and Bacillus subtilis. J Bacteriol. 1997;179:2022-8 pubmed
    ..Expression of the N-terminal or C-terminal part of the RibG protein yielded proteins with deaminase or reductase activity, respectively; however, the truncated proteins were rather unstable. ..

More Information

Publications186 found, 100 shown here

  1. Hammami Hauasli N, Raghunath M, Kuster W, Bruckner Tuderman L. Transient bullous dermolysis of the newborn associated with compound heterozygosity for recessive and dominant COL7A1 mutations. J Invest Dermatol. 1998;111:1214-9 pubmed
    ..Accordingly, TBDN keratinocytes in vitro accumulated collagen VII intracellularly in the rough endoplasmic reticulum. ..
  2. Mueller M, Stamme C, Draing C, Hartung T, Seydel U, Schromm A. Cell activation of human macrophages by lipoteichoic acid is strongly attenuated by lipopolysaccharide-binding protein. J Biol Chem. 2006;281:31448-56 pubmed
    ..In summary, our data suggest that innate immune recognition of LTA is organ-specific with negative regulation by LBP in serum-containing compartments and sensitive recognition in serum-free compartments like the lung. ..
  3. Bolte M, Dieckhoff P, Krause C, Braus G, Irniger S. Synergistic inhibition of APC/C by glucose and activated Ras proteins can be mediated by each of the Tpk1-3 proteins in Saccharomyces cerevisiae. Microbiology. 2003;149:1205-16 pubmed
    ..However, Tpk2 seems to inhibit APC/C function more efficiently than Tpk1 and Tpk3. Finally, evidence is provided that Cdc20 is involved in APC/C regulation by the cAMP/PKA pathway. ..
  4. Gross O, Kashtan C. Treatment of Alport syndrome: beyond animal models. Kidney Int. 2009;76:599-603 pubmed publisher
    ..In summary, all potential therapies are off-label use in children. As a consequence, initial therapeutic trials should focus on the safety and efficiency of medical treatment, as well as the optimal timing of therapy. ..
  5. Lacher M, Helmbrecht J, Schroepf S, Koletzko S, Ballauff A, Classen M, et al. NOD2 mutations predict the risk for surgery in pediatric-onset Crohn's disease. J Pediatr Surg. 2010;45:1591-7 pubmed publisher
    ..1007fs mutations. In children with pediatric-onset CD, the need for surgical therapy younger than 17 years is associated with the NOD2 genotype. Genetic testing therefore may identify children with CD who are at risk. ..
  6. Juratli T, Peitzsch M, Geiger K, Schackert G, Eisenhofer G, Krex D. Accumulation of 2-hydroxyglutarate is not a biomarker for malignant progression in IDH-mutated low-grade gliomas. Neuro Oncol. 2013;15:682-90 pubmed publisher
    ..Although intratumoral 2-hydroxyglutarate accumulation provides a marker for the presence of IDH mutations, the metabolite is not a useful biomarker for identifying malignant transformation or evaluating malignant progression. ..
  7. Favor J, Peters H, Hermann T, Schmahl W, Chatterjee B, Neuhauser Klaus A, et al. Molecular characterization of Pax6(2Neu) through Pax6(10Neu): an extension of the Pax6 allelic series and the identification of two possible hypomorph alleles in the mouse Mus musculus. Genetics. 2001;159:1689-700 pubmed
    ..Pax6(7Neu) is a base pair substitution in the Kozak sequence and results in a reduced level of Pax6 translation product. The Pax6(4Neu) and Pax6(7Neu) alleles may be very useful for gene-dosage studies. ..
  8. Knop M, Aareskjold E, Bode G, Gerke V. Rab3D and annexin A2 play a role in regulated secretion of vWF, but not tPA, from endothelial cells. EMBO J. 2004;23:2982-92 pubmed
    ..This indicates that distinct mechanisms underlie the acute secretion of vWF and tPA, enabling endothelial cells to fine-regulate the release of thrombogenic and fibrinolytic factors...
  9. Iwanami N, Mateos F, Hess I, Riffel N, Soza Ried C, Schorpp M, et al. Genetic evidence for an evolutionarily conserved role of IL-7 signaling in T cell development of zebrafish. J Immunol. 2011;186:7060-6 pubmed publisher
  10. Hamprecht A, Buchheidt D, Vehreschild J, Cornely O, Spiess B, Plum G, et al. Azole-resistant invasive aspergillosis in a patient with acute myeloid leukaemia in Germany. Euro Surveill. 2012;17:20262 pubmed
    ..This case underscores the need for monitoring azole resistance in Aspergillus spp. and for routine susceptibility testing of moulds...
  11. Herbst R, Munemitsu S, Ullrich A. Oncogenic activation of v-kit involves deletion of a putative tyrosine-substrate interaction site. Oncogene. 1995;10:369-79 pubmed
    ..Repositioning of Y571 by an inframe two codon deletion may be the crucial alteration resulting in enhancement of v-kit oncogenic activity. ..
  12. Sandulache R, Pretsch W, Chatterjee B, Gimbel W, Graw J, Favor J. Molecular analysis of four lactate dehydrogenase-A mutants in the mouse. Mamm Genome. 1994;5:777-80 pubmed
    ..All ENU-induced mutations were A/T-->G/C transitions. The mutation events could be correlated with the biochemical and physiological alterations observed in affected mice. ..
  13. Rudolph G, Kalpadakis P, Haritoglou C, Rivera A, Weber B. [Mutations in the ABCA4 gene in a family with Stargardt's disease and retinitis pigmentosa (STGD1/RP19)]. Klin Monbl Augenheilkd. 2002;219:590-6 pubmed
    ..Demonstrating the types of ABCA4 mutations in the STGD1 gene in a family manifesting both Stargardt's disease and retinitis pigmentosa (RP19)...
  14. Berry S, Rosa S, Howard M, Buhler M, Dean C. Disruption of an RNA-binding hinge region abolishes LHP1-mediated epigenetic repression. Genes Dev. 2017;31:2115-2120 pubmed publisher
    ..Disruption of the RNA-binding hinge region also prevented formation of subnuclear foci, structures potentially important for epigenetic repression. ..
  15. Fein M, Peters J, Demeester T. Carcinogenesis in reflux disease--in search for bile-specific effects. Microsurgery. 2007;27:647-50 pubmed
    ..However, mechanisms of carcinogenesis in the esophageal cancer model other than chronic inflammation could not be identified because of the only moderately increased MF. ..
  16. Prestel J, Gempel K, Hauser T, Schweitzer K, Prokisch H, Ahting U, et al. Clinical and molecular characterisation of a Parkinson family with a novel PINK1 mutation. J Neurol. 2008;255:643-8 pubmed publisher
    ..MR spectroscopy revealed raised myoinositol levels in the basal ganglia of both patients, reflecting possible astroglial proliferation. ..
  17. Gustmann S, Klein Hitpass L, Stephan H, Weber S, Bornfeld N, Kaulisch M, et al. Loss at chromosome arm 16q in retinoblastoma: confirmation of the association with diffuse vitreous seeding and refinement of the recurrently deleted region. Genes Chromosomes Cancer. 2011;50:327-37 pubmed publisher
    ..One of these genes is cadherin 13 (CDH13) and notably, downregulation of CHD13 has previously been associated with poorer prognosis in various other cancers...
  18. Kraus M, Görl J, Timm M, Seibel J. Synthesis of the rare disaccharide nigerose by structure-based design of a phosphorylase mutant with altered regioselectivity. Chem Commun (Camb). 2016;52:4625-7 pubmed publisher
    ..A Q345F exchange switches the enzyme's regioselectivity from 2 to 3 exclusively, yielding the rare sugar nigerose (3-O-α-d-glucopyranosyl-d-glucose, sakebiose). ..
  19. Buche C, Poppe C, Schafer E, Kretsch T. eid1: a new Arabidopsis mutant hypersensitive in phytochrome A-dependent high-irradiance responses. Plant Cell. 2000;12:547-58 pubmed
    ..The expression of the Eid1 phenotype requires the presence of phyA. Our data provide evidence that EID1 is a negatively acting component in the phyA-dependent HIR-signaling pathway. ..
  20. Schwienhorst I, Johnson E, Dohmen R. SUMO conjugation and deconjugation. Mol Gen Genet. 2000;263:771-86 pubmed
    ..Ulp2p is predominantly located within the nucleus, whereas Ulp1p colocalizes with nuclear pore complex proteins, indicating that the apparently distinct functions of the two SUMO deconjugating enzymes are spatially separated. ..
  21. Zariwala M, Leigh M, Ceppa F, Kennedy M, Noone P, Carson J, et al. Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation. Am J Respir Crit Care Med. 2006;174:858-66 pubmed
    ..This information is useful for establishing a clinical molecular genetic test for PCD. ..
  22. Thierbach R, Drewes G, Fusser M, Voigt A, Kuhlow D, Blume U, et al. The Friedreich's ataxia protein frataxin modulates DNA base excision repair in prokaryotes and mammals. Biochem J. 2010;432:165-72 pubmed publisher
    ..These findings indicate that frataxin modulates DNA-repair mechanisms probably due to its impact on ISC-dependent repair proteins, linking mitochondrial dysfunction to DNA repair and tumour initiation. ..
  23. Maas A, Bretz A, Mack E, Stiewe T. Targeting p73 in cancer. Cancer Lett. 2013;332:229-36 pubmed publisher
    ..Here, we will review how tumor cells control the tumor suppressor activity of TAp73 and discuss possible strategies targeting p73 for reactivation. ..
  24. Schwake M, Pusch M, Kharkovets T, Jentsch T. Surface expression and single channel properties of KCNQ2/KCNQ3, M-type K+ channels involved in epilepsy. J Biol Chem. 2000;275:13343-8 pubmed
    ..Thus, the increase in currents seen upon co-expressing KCNQ2 and KCNQ3 is predominantly due to an increase in surface expression, which is dependent on an intact carboxyl terminus. ..
  25. Zeng C, Anjard C, Primpke G, Wetterauer B, Wille S, Nellen W. Interaction of gdt1 and protein kinase A (PKA) in the growth-differentiation-transition in Dictyostelium. Differentiation. 2001;67:25-32 pubmed
    ..A model for the interplay between PKA and gdt1 during the growth-differentiation-transition is discussed. ..
  26. Lickert H, Kutsch S, Kanzler B, Tamai Y, Taketo M, Kemler R. Formation of multiple hearts in mice following deletion of beta-catenin in the embryonic endoderm. Dev Cell. 2002;3:171-81 pubmed
    ..We provide evidence that ablation of beta-catenin in embryonic endoderm changes cell fate from endoderm to precardiac mesoderm, consistent with the existence of bipotential mesendodermal progenitors in mouse embryos. ..
  27. Frankenberg Schwager M, Garg I, Fran Kenberg D, Greve B, Severin E, Uthe D, et al. Mutagenicity of low-filtered 30 kVp X-rays, mammography X-rays and conventional X-rays in cultured mammalian cells. Int J Radiat Biol. 2002;78:781-9 pubmed
    ..In the meantime, one should be cautious and avoid early and frequent mammography exposure of predisposed women. Alternative examination methods should be applied for these women with an inherited increased risk for breast cancer. ..
  28. Ballmaier M, Germeshausen M, Krukemeier S, Welte K. Thrombopoietin is essential for the maintenance of normal hematopoiesis in humans: development of aplastic anemia in patients with congenital amegakaryocytic thrombocytopenia. Ann N Y Acad Sci. 2003;996:17-25 pubmed
    ..On the other hand, the incidence of development of aplastic anemia in CAMT is not clear owing to difficult and not consistent diagnosis of this disease. ..
  29. Reimer T, Weiwad M, Schierhorn A, Ruecknagel P, Rahfeld J, Bayer P, et al. Phosphorylation of the N-terminal domain regulates subcellular localization and DNA binding properties of the peptidyl-prolyl cis/trans isomerase hPar14. J Mol Biol. 2003;330:955-66 pubmed
    ..In contrast to wild-type hPar14, the in vitro DNA-binding affinity of the Glu19 mutant is strongly reduced, suggesting that only the dephosphorylated protein is the active DNA-binding form of hPar14 in the nucleus. ..
  30. Kramer O, Baus D, Knauer S, Stein S, Jager E, Stauber R, et al. Acetylation of Stat1 modulates NF-kappaB activity. Genes Dev. 2006;20:473-85 pubmed
    ..As a consequence, p65 DNA binding, nuclear localization, and expression of anti-apoptotic NF-kappaB target genes decrease. These findings show how the acetylation of Stat1 regulates NF-kappaB activity and thus ultimately apoptosis. ..
  31. Ehlert B, Sch ttler M, Tischendorf G, Ludwig M ller J, Bock R. The paramutated SULFUREA locus of tomato is involved in auxin biosynthesis. J Exp Bot. 2008;59:3635-47 pubmed publisher
    ..Thus, the sulfurea mutant may provide a promising entry point into elucidating the tryptophan-independent pathway of IAA synthesis...
  32. Moeller R, Vlasic I, Reitz G, Nicholson W. Role of altered rpoB alleles in Bacillus subtilis sporulation and spore resistance to heat, hydrogen peroxide, formaldehyde, and glutaraldehyde. Arch Microbiol. 2012;194:759-67 pubmed publisher
  33. Kaessmann H, Wiebe V, Paabo S. Extensive nuclear DNA sequence diversity among chimpanzees. Science. 1999;286:1159-62 pubmed
    ..Phylogenetic analyses show the sequences from the different chimpanzee subspecies to be intermixed and the distance between some chimpanzee sequences to be greater than the distance between them and the bonobo sequences. ..
  34. Mack T, Reiner M, Beirowski B, Mi W, Emanuelli M, Wagner D, et al. Wallerian degeneration of injured axons and synapses is delayed by a Ube4b/Nmnat chimeric gene. Nat Neurosci. 2001;4:1199-206 pubmed
    ..Nmnat enzyme activity, but not NAD+ content, was increased fourfold in WldS tissues. Thus, axon protection is likely to be mediated by altered ubiquitination or pyridine nucleotide metabolism. ..
  35. Weibezahn J, Schlieker C, Bukau B, Mogk A. Characterization of a trap mutant of the AAA+ chaperone ClpB. J Biol Chem. 2003;278:32608-17 pubmed publisher
    ..ClpB-E279A/E678A outcompetes the DnaK system for binding to the model substrate TrfA and inhibits the dissociation of small protein aggregates by DnaK only, indicating that ClpB acts prior to DnaK on protein substrates...
  36. Kenyon J, Duda K, De Felice A, Cunneen M, Molinaro A, Laitinen J, et al. Serotype O:8 isolates in the Yersinia pseudotuberculosis complex have different O-antigen gene clusters and produce various forms of rough LPS. Innate Immun. 2016;22:205-17 pubmed publisher
  37. Steinlein O. Nicotinic receptor mutations in human epilepsy. Prog Brain Res. 2004;145:275-85 pubmed
  38. Duvezin Caubet S, Jagasia R, Wagener J, Hofmann S, Trifunovic A, Hansson A, et al. Proteolytic processing of OPA1 links mitochondrial dysfunction to alterations in mitochondrial morphology. J Biol Chem. 2006;281:37972-9 pubmed
    ..We present the hypothesis that this pathway regulates mitochondrial morphology and serves as an early response to prevent fusion of dysfunctional mitochondria with the functional mitochondrial network. ..
  39. Andreou A, Vanko M, Bezakova L, Feussner I. Properties of a mini 9R-lipoxygenase from Nostoc sp. PCC 7120 and its mutant forms. Phytochemistry. 2008;69:1832-7 pubmed publisher
  40. Pfalz M, Mikkelsen M, Bednarek P, Olsen C, Halkier B, Kroymann J. Metabolic engineering in Nicotiana benthamiana reveals key enzyme functions in Arabidopsis indole glucosinolate modification. Plant Cell. 2011;23:716-29 pubmed publisher
  41. Vogel R, Fan G, Siebert F, Sheves M. Anions stabilize a metarhodopsin II-like photoproduct with a protonated Schiff base. Biochemistry. 2001;40:13342-52 pubmed
    ..This specificity correlates inversely with the strength of hydration of the respective anion species in solution and seems therefore to be determined mainly by its partitioning into the considerably less polar protein interior. ..
  42. Li D, Willkomm D, Hartmann R. Minor changes largely restore catalytic activity of archaeal RNase P RNA from Methanothermobacter thermoautotrophicus. Nucleic Acids Res. 2009;37:231-42 pubmed publisher
  43. Pfeifer H, Lange T, Wystub S, Wassmann B, Maier J, Binckebanck A, et al. Prevalence and dynamics of bcr-abl kinase domain mutations during imatinib treatment differ in patients with newly diagnosed and recurrent bcr-abl positive acute lymphoblastic leukemia. Leukemia. 2012;26:1475-81 pubmed publisher
    ..Moreover, the prevalence of pre-existing, clinically relevant TKD may have been underestimated in tyrosine kinase inhibitor-naïve patients with Ph+ ALL. ..
  44. Schaarschmidt J, Nagel M, Huth S, Jaeschke H, Moretti R, Hintze V, et al. Rearrangement of the Extracellular Domain/Extracellular Loop 1 Interface Is Critical for Thyrotropin Receptor Activation. J Biol Chem. 2016;291:14095-108 pubmed publisher
    ..The experimentally verified contact of Ser-281 (ECD) and Ile-486 (TMD) was subsequently utilized in docking homology models of the ECD and the TMD to create a full-length model of a glycoprotein hormone receptor. ..
  45. Heller C, Schobess R, Kurnik K, Junker R, Gunther G, Kreuz W, et al. Abdominal venous thrombosis in neonates and infants: role of prothrombotic risk factors - a multicentre case-control study. For the Childhood Thrombophilia Study Group. Br J Haematol. 2000;111:534-9 pubmed
    ..1; P < 0.0001), PVT (5.47/1.7-17.6; P < 0.0007) and HVT (3.3/0.58-18.7; P = 0.18). The data presented here suggest that genetic prothrombotic risk factors also play an important role in abdominal venous thrombosis during infancy. ..
  46. Schmitz G, Tillmann E, Carriero F, Fiore C, Cellini F, Theres K. The tomato Blind gene encodes a MYB transcription factor that controls the formation of lateral meristems. Proc Natl Acad Sci U S A. 2002;99:1064-9 pubmed
    ..The findings reported add a new class of transcription factors to the group of genes controlling lateral meristem initiation and reveal a previously uncharacterized function of R2R3 Myb genes. ..
  47. Lima J, Kojima S, Takahashi H, von Wirén N. Ammonium triggers lateral root branching in Arabidopsis in an AMMONIUM TRANSPORTER1;3-dependent manner. Plant Cell. 2010;22:3621-33 pubmed publisher
    ..These results show that ammonium is complementary to nitrate in shaping lateral root development and that stimulation of lateral root branching by ammonium occurs in an AMT1;3-dependent manner. ..
  48. Zühlsdorf A, Said M, Seger C, Park J, Reunert J, Rust S, et al. It Is Not Always Alcohol Abuse--A Transferrin Variant Impairing the CDT Test. Alcohol Alcohol. 2016;51:148-53 pubmed publisher
    ..Transferrin mutations can severely impair the diagnostics of chronic alcohol abuse by causing false positive results. This has to be considered when CDT screening is used to detect alcoholism. ..
  49. Obukhov A, Harteneck C, Zobel A, Harhammer R, Kalkbrenner F, Leopoldt D, et al. Direct activation of trpl cation channels by G alpha11 subunits. EMBO J. 1996;15:5833-8 pubmed
    ..Thus, G proteins of the Gq subfamily may induce Ca2+ entry not only indirectly via store-operated mechanisms but also by directly stimulating cation channels. ..
  50. Rahner A, Hiesinger M, Schüller H. Deregulation of gluconeogenic structural genes by variants of the transcriptional activator Cat8p of the yeast Saccharomyces cerevisiae. Mol Microbiol. 1999;34:146-56 pubmed
    ..Our data show that carbon source-dependent transcriptional activation by Cat8p is the most important mechanism affecting the regulated expression of gluconeogenic structural genes. ..
  51. Baier M, Ströher E, Dietz K. The acceptor availability at photosystem I and ABA control nuclear expression of 2-Cys peroxiredoxin-A in Arabidopsis thaliana. Plant Cell Physiol. 2004;45:997-1006 pubmed
  52. Tritschler F, Eulalio A, Truffault V, Hartmann M, Helms S, Schmidt S, et al. A divergent Sm fold in EDC3 proteins mediates DCP1 binding and P-body targeting. Mol Cell Biol. 2007;27:8600-11 pubmed
    ..The conservation of surface and of critical structural residues indicates that LSm domains in EDC3 proteins adopt a similar fold that has separable novel functions that are absent in canonical (L)Sm proteins...
  53. Alkatib S, Scharff L, Rogalski M, Fleischmann T, Matthes A, Seeger S, et al. The contributions of wobbling and superwobbling to the reading of the genetic code. PLoS Genet. 2012;8:e1003076 pubmed publisher
    ..This has important implications for the interpretation of the genetic code and will aid the construction of synthetic genomes with a minimum-size translational apparatus. ..
  54. Ingelfinger D, Göthel S, Marahiel M, Reidt U, Ficner R, Luhrmann R, et al. Two protein-protein interaction sites on the spliceosome-associated human cyclophilin CypH. Nucleic Acids Res. 2003;31:4791-6 pubmed
  55. Weitzmann A, Volkmer J, Zimmermann R. The nucleotide exchange factor activity of Grp170 may explain the non-lethal phenotype of loss of Sil1 function in man and mouse. FEBS Lett. 2006;580:5237-40 pubmed
    ..Here we characterize mammalian Grp170 as alternative nucleotide exchange factor for BiP, thus providing a likely explanation for the non-lethal phenotype of the homozygous human and murine SIL1 mutations...
  56. Zabel R, Bär C, Mehlgarten C, Schaffrath R. Yeast alpha-tubulin suppressor Ats1/Kti13 relates to the Elongator complex and interacts with Elongator partner protein Kti11. Mol Microbiol. 2008;69:175-87 pubmed publisher
    ..In sum, our data suggest that Kti13 and Kti11 support Elongator functions and that they both share Elongator-independent role(s) that are important for cell viability. ..
  57. Schaper C, Hocker J, Bohm R, Roeder T, Bein B. The shaker potassium channel is no target for xenon anesthesia in short-sleeping Drosophila melanogaster mutants. ScientificWorldJournal. 2012;2012:373709 pubmed publisher
    ..This supports the thesis that xenon mediates its effects not only via an antagonism at the NMDA-receptor. ..
  58. Burwinkel B, Shiomi S, Al Zaben A, Kilimann M. Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis. Hum Mol Genet. 1998;7:149-54 pubmed
    ..As liver Phk deficiency is generally a benign condition and progression to cirrhosis is very rare, this finding suggests that PHKG2 mutations are associated with an increased cirrhosis risk. ..
  59. Huhn R, Stoermer H, Klingele B, Bausch E, Fois A, Farnetani M, et al. Novel and recurrent tyrosine aminotransferase gene mutations in tyrosinemia type II. Hum Genet. 1998;102:305-13 pubmed
    ..Expression of R433Q and R433W demonstrate reduced activity of the mutant proteins. In all, twelve different TAT gene mutations have now been identified in tyrosinemia type II. ..
  60. Wieland G, Hemmerich P, Koch M, Stoyan T, Hegemann J, Diekmann S. Determination of the binding constants of the centromere protein Cbf1 to all 16 centromere DNAs of Saccharomyces cerevisiae. Nucleic Acids Res. 2001;29:1054-60 pubmed
    ..Our results suggest that centromeric DNA outside the consensus CDEI sequence and interaction of Cbf1p with adjacent centromere proteins contribute to the complex formation between Cbf1p and CEN DNA. ..
  61. Stanewsky R, Lynch K, Brandes C, Hall J. Mapping of elements involved in regulating normal temporal period and timeless RNA expression patterns in Drosophila melanogaster. J Biol Rhythms. 2002;17:293-306 pubmed
    ..The results establish that, for normal rhythmicity, expression of clock genes requires regulation at the transcriptional, posttranscriptional, and posttranslational levels. ..
  62. Heck E, Lengenfelder D, Schmidt M, Müller Fleckenstein I, Fleckenstein B, Biesinger B, et al. T-cell growth transformation by herpesvirus saimiri is independent of STAT3 activation. J Virol. 2005;79:5713-20 pubmed
    ..This demonstrates that growth transformation by HVS is independent of STAT3 activation...
  63. Liu S, Li P, Dybkov O, Nottrott S, Hartmuth K, Luhrmann R, et al. Binding of the human Prp31 Nop domain to a composite RNA-protein platform in U4 snRNP. Science. 2007;316:115-20 pubmed
    ..Yeast two-hybrid analyses suggest a link between retinitis pigmentosa and an aberrant hPrp31-hPrp6 interaction that blocks U4/U6-U5 tri-snRNP formation. ..
  64. Buerstedde J, Arakawa H. Immunoglobulin gene conversion or hypermutation: that's the question. Subcell Biochem. 2006;40:11-24 pubmed
    ..The ease of gene targeting and the compactness of the chicken Ig light chain locus makes DT40 an ideal model to study the molecular mechanism of AID induced gene conversion and hypermutation. ..
  65. Winter J, Gleiter S, Klappa P, Lilie H. Protein disulfide isomerase isomerizes non-native disulfide bonds in human proinsulin independent of its peptide-binding activity. Protein Sci. 2011;20:588-96 pubmed publisher
    ..We conclude that peptide binding to PDI is not essential for disulfide isomerization in fully oxidized proinsulin folding intermediates. ..
  66. Schrons H, Knust E, Campos Ortega J. The Enhancer of split complex and adjacent genes in the 96F region of Drosophila melanogaster are required for segregation of neural and epidermal progenitor cells. Genetics. 1992;132:481-503 pubmed
    ..The genes of the complex are interspersed among other genes which appear to be unrelated to the neuroepidermal lineage dichotomy. ..
  67. Jablonowski D, Butler A, Fichtner L, Gardiner D, Schaffrath R, Stark M. Sit4p protein phosphatase is required for sensitivity of Saccharomyces cerevisiae to Kluyveromyces lactis zymocin. Genetics. 2001;159:1479-89 pubmed
    ..lactis zymocin resistance. Since sit4Delta and SAP-deficient strains share in common several other phenotypes associated with Elongator mutants, Elongator function may be a Sit4p-dependent process. ..
  68. Held M, Schuhmann W, Jahreis K, Schmidt H. Microbial biosensor array with transport mutants of Escherichia coli K12 for the simultaneous determination of mono-and disaccharides. Biosens Bioelectron. 2002;17:1089-94 pubmed
    ..Parallel determination of fructose, glucose, and sucrose was performed demonstrating the high selectivity of the proposed analytical system. ..
  69. Reiners J, Nagel Wolfrum K, Jürgens K, Märker T, Wolfrum U. Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease. Exp Eye Res. 2006;83:97-119 pubmed
  70. Bokemeyer C, Bondarenko I, Makhson A, Hartmann J, Aparicio J, De Braud F, et al. Fluorouracil, leucovorin, and oxaliplatin with and without cetuximab in the first-line treatment of metastatic colorectal cancer. J Clin Oncol. 2009;27:663-71 pubmed publisher
    ..KRAS mutational status was shown to be a highly predictive selection criterion in relation to the treatment decision regarding the addition of cetuximab to FOLFOX-4 for previously untreated patients with metastatic colorectal cancer. ..
  71. Scholtka B, Schneider M, Melcher R, Katzenberger T, Friedrich D, Berghof Jäger K, et al. A gene marker panel covering the Wnt and the Ras-Raf-MEK-MAPK signalling pathways allows to detect gene mutations in 80% of early (UICC I) colon cancer stages in humans. Cancer Epidemiol. 2009;33:123-9 pubmed publisher
    ..When compared with previously published gene marker panels the 4-gene marker panel used in the present study shows an excellent performance, allowing to detect genetic alterations in 80-90% of human sporadic CRC samples analyzed. ..
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