Genomes and Genes
Experts and Doctors on mutation in Tübingen, Baden Württemberg, Germany
Locale: Tübingen, Baden Württemberg, Germany
Publications272 found, 100 shown here
- Synofzik M, Schicks J, Lindig T, Biskup S, Schmidt T, Hansel J, et al. Acetazolamide-responsive exercise-induced episodic ataxia associated with a novel homozygous DARS2 mutation. J Med Genet. 2011;48:713-5 pubmed publisher..So far, affected individuals were invariably compound heterozygous for two mutations in DARS2, and drug treatments have remained elusive...
- Lehner C, Yakubovich N, O Farrell P. Exploring the role of Drosophila cyclin A in the regulation of S phase. Cold Spring Harb Symp Quant Biol. 1991;56:465-75 pubmed
- Eizinger A, Jungblut B, Sommer R. Evolutionary change in the functional specificity of genes. Trends Genet. 1999;15:197-202 pubmed..Ultimately, it is the interplay of conservation and change of the specificity of genes and genetic networks that generates developmental novelty over evolutionary time. ..
- Busch Nentwich E, Sollner C, Roehl H, Nicolson T. The deafness gene dfna5 is crucial for ugdh expression and HA production in the developing ear in zebrafish. Development. 2004;131:943-51 pubmed..We hypothesize that the reduction of HA production leads to uncoordinated outgrowth of the canal columns and impaired facial cartilage differentiation. ..
- Synofzik M, Ronchi D, Keskin I, Basak A, Wilhelm C, Gobbi C, et al. Mutant superoxide dismutase-1 indistinguishable from wild-type causes ALS. Hum Mol Genet. 2012;21:3568-74 pubmed publisher..Wild-type human SOD1 is moderately stable, and was found here to be within the stability range of ALS-causing SOD1 variants, lending support to the hypothesis that wild-type SOD1 could be more generally involved in ALS pathogenesis. ..
- Masnada S, Hedrich U, Gardella E, Schubert J, Kaiwar C, Klee E, et al. Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies. Brain. 2017;140:2337-2354 pubmed publisher..Our study thus indicates well represented genotype-phenotype associations between three subgroups of patients with KCNA2 encephalopathy according to the electrophysiological features of the mutations...
- Knaut H, Werz C, Geisler R, NUSSLEIN VOLHARD C. A zebrafish homologue of the chemokine receptor Cxcr4 is a germ-cell guidance receptor. Nature. 2003;421:279-82 pubmed
- Sigrist S, Thiel P, Reiff D, Lachance P, Lasko P, Schuster C. Postsynaptic translation affects the efficacy and morphology of neuromuscular junctions. Nature. 2000;405:1062-5 pubmed..Our results therefore provide evidence for a postsynaptic translational control of long-term junctional plasticity. ..
- Schreiber T, Kohle C, Buckler F, Schmohl S, Braeuning A, Schmiechen A, et al. Regulation of CYP1A1 gene expression by the antioxidant tert-butylhydroquinone. Drug Metab Dispos. 2006;34:1096-101 pubmed..These findings indicate that CYP1A1 may be induced by the antioxidant tBHQ via an AhR-dependent mechanism. ..
- Pilsl H, Smajs D, Braun V. Characterization of colicin S4 and its receptor, OmpW, a minor protein of the Escherichia coli outer membrane. J Bacteriol. 1999;181:3578-81 pubmed..By contrast, the predicted receptor binding domain shows no sequence similarities to other colicins. Mutants that lacked the OmpW protein were resistant to colicin S4. ..
- Guo Y, Todesco M, Hagmann J, Das S, Weigel D. Independent FLC mutations as causes of flowering-time variation in Arabidopsis thaliana and Capsella rubella. Genetics. 2012;192:729-39 pubmed publisher..rubella is complex, despite this very young species having undergone an extreme genetic bottleneck when it split from C. grandiflora a few tens of thousands of years ago...
- Sharma M, Ioannidis J, Aasly J, Annesi G, Brice A, Bertram L, et al. A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants. J Med Genet. 2012;49:721-6 pubmed publisher..Asp620Asn variant in familial cases also identified it in idiopathic Parkinson disease cases, and thus provides genetic evidence for a role of p.Asp620Asn in Parkinson disease in different populations worldwide. ..
- Hutter S, Piro R, Waszak S, Kehrer Sawatzki H, Friedrich R, Lassaletta A, et al. No correlation between NF1 mutation position and risk of optic pathway glioma in 77 unrelated NF1 patients. Hum Genet. 2016;135:469-475 pubmed publisher..Thus, NF1 mutation location should not currently be used as a clinical criterion to assess the risk of developing OPGs. ..
- van Eeden F, Granato M, Schach U, Brand M, Furutani Seiki M, Haffter P, et al. Mutations affecting somite formation and patterning in the zebrafish, Danio rerio. Development. 1996;123:153-64 pubmed
- Seiler C, Nicolson T. Defective calmodulin-dependent rapid apical endocytosis in zebrafish sensory hair cell mutants. J Neurobiol. 1999;41:424-34 pubmed..The presence of endocytic defects in the majority of zebrafish mechanosensory mutants points to a important role of apical endocytosis in hair cell function. ..
- Jacobi F, Andreasson S, Langrova H, Meindl A, Zrenner E, Apfelstedt Sylla E, et al. Phenotypic expression of the complete type of X-linked congenital stationary night blindness in patients with different mutations in the NYX gene. Graefes Arch Clin Exp Ophthalmol. 2002;240:822-8 pubmed..A high inter-eye correlation suggests that other genetic or environmental factors, rather than chance, play a part in determining the phenotypic diversity in CSNB1. ..
- Granato M, van Eeden F, Schach U, Trowe T, Brand M, Furutani Seiki M, et al. Genes controlling and mediating locomotion behavior of the zebrafish embryo and larva. Development. 1996;123:399-413 pubmed..Mutations in two genes, nevermind (nev) and macho (mao), affect axonal projection in the optic tectum, whereas axon formation and elongation of motorneurons are disrupted by mutations in the diwanka (diw) and the unplugged (unp) genes. ..
- Trowe T, Klostermann S, Baier H, Granato M, Crawford A, Grunewald B, et al. Mutations disrupting the ordering and topographic mapping of axons in the retinotectal projection of the zebrafish, Danio rerio. Development. 1996;123:439-50 pubmed..In 27 mutants belonging to six complementation groups, retinal axons do not form normal termination fields. Some implications for models concerning the formation of topographic projections are discussed. ..
- Sigrist S, Reiff D, Thiel P, Steinert J, Schuster C. Experience-dependent strengthening of Drosophila neuromuscular junctions. J Neurosci. 2003;23:6546-56 pubmed..Such temporal mapping of experience-dependent adaptations at developing wild-type and mutant NMJs will provide detailed insights into the dynamic control of glutamatergic signal transmission. ..
- Meisel U, Höltje J, Vollmer W. Overproduction of inactive variants of the murein synthase PBP1B causes lysis in Escherichia coli. J Bacteriol. 2003;185:5342-8 pubmed..A possible structural interaction between PBP1B and murein hydrolases in vivo by the formation of a multienzyme complex is discussed. ..
- Sollner C, Rauch G, Siemens J, Geisler R, Schuster S, Muller U, et al. Mutations in cadherin 23 affect tip links in zebrafish sensory hair cells. Nature. 2004;428:955-9 pubmed..Moreover, tip links are absent in larvae carrying weak alleles of cdh23 that affect mechanotransduction but not hair bundle integrity. We conclude that Cdh23 is an essential tip link component required for hair-cell mechanotransduction. ..
- Wolff M, Casse Perrot C, Dravet C. Severe myoclonic epilepsy of infants (Dravet syndrome): natural history and neuropsychological findings. Epilepsia. 2006;47 Suppl 2:45-8 pubmed..The cognitive and behavioral impairment tended to correlate with the frequency of convulsive seizures (>5 per month). The data suggest that SMEI can be considered as a prototype of an epileptic encephalopathy. ..
- Koch I, Schwarz H, Beuchle D, Goellner B, Langegger M, Aberle H. Drosophila ankyrin 2 is required for synaptic stability. Neuron. 2008;58:210-22 pubmed publisher..Interestingly, Ank2 functions downstream of spectrin in the anchorage of synaptic microtubules, providing the cytoskeletal scaffold that is essential for synaptic stability. ..
- St Johnston D, Beuchle D, Nusslein Volhard C. Staufen, a gene required to localize maternal RNAs in the Drosophila egg. Cell. 1991;66:51-63 pubmed..By the time the egg is laid, staufen protein is also concentrated at the anterior pole, in the same region as bicoid RNA. ..
- Driever W, Siegel V, Nusslein Volhard C. Autonomous determination of anterior structures in the early Drosophila embryo by the bicoid morphogen. Development. 1990;109:811-20 pubmed..Our findings further support the notion that the concentration gradient of bcd protein, and not the existence of different forms of bcd protein, is responsible for specifying subregions of the embryo. ..
- Seufert W, Futcher B, Jentsch S. Role of a ubiquitin-conjugating enzyme in degradation of S- and M-phase cyclins. Nature. 1995;373:78-81 pubmed..Thus distinct degradation signals or regulated interaction with the ubiquitin-protein ligase system may determine the cell-cycle specificity of cyclin proteolysis. ..
- Brand M, Heisenberg C, Warga R, Pelegri F, Karlstrom R, Beuchle D, et al. Mutations affecting development of the midline and general body shape during zebrafish embryogenesis. Development. 1996;123:129-42 pubmed..As a working hypothesis, we propose that midline-group genes may act to maintain proper structure and inductive function of zebrafish midline tissues. ..
- Cellerino A, Michaelidis T, Barski J, Bahr M, Thoenen H, Meyer M. Retinal ganglion cell loss after the period of naturally occurring cell death in bcl-2-/- mice. Neuroreport. 1999;10:1091-5 pubmed..These observations, together with the previously reported late loss of primary motoneurons and peripheral neurons, point to a general physiological requirement for Bcl-2 soon after the period of naturally occurring cell death. ..
- Beuchle D, Schwarz H, Langegger M, Koch I, Aberle H. Drosophila MICAL regulates myofilament organization and synaptic structure. Mech Dev. 2007;124:390-406 pubmed..As a model, we suggest that the filamentous network around synaptic boutons restrains the spreading of synaptic branches. ..
- Braun V, Herrmann C. Docking of the periplasmic FecB binding protein to the FecCD transmembrane proteins in the ferric citrate transport system of Escherichia coli. J Bacteriol. 2007;189:6913-8 pubmed..The data are consistent with the proposal that FecB(E93) is contained in the region that binds to FecD and FecB(E222) in the region that binds to FecC...
- Loh B, Jonas S, Izaurralde E. The SMG5-SMG7 heterodimer directly recruits the CCR4-NOT deadenylase complex to mRNAs containing nonsense codons via interaction with POP2. Genes Dev. 2013;27:2125-38 pubmed publisher..These data unveil a missing direct physical link between NMD and the general mRNA decay machinery and indicate that NMD employs diverse and partially redundant mechanisms to ensure robust degradation of aberrant mRNAs. ..
- Juchum M, Günther M, Döring E, Sievers Engler A, Lämmerhofer M, Laufer S. Trisubstituted Imidazoles with a Rigidized Hinge Binding Motif Act As Single Digit nM Inhibitors of Clinically Relevant EGFR L858R/T790M and L858R/T790M/C797S Mutants: An Example of Target Hopping. J Med Chem. 2017;60:4636-4656 pubmed publisher..Target binding kinetics and metabolic stability data are included. These potent mutant EGFR inhibitors may serve as a basis for the development of structurally novel EGFR probes, tools, or candidates. ..
- Mullins M, Hammerschmidt M, Kane D, Odenthal J, Brand M, van Eeden F, et al. Genes establishing dorsoventral pattern formation in the zebrafish embryo: the ventral specifying genes. Development. 1996;123:81-93 pubmed..This pathway provides ventral positional information, counteracting the dorsalizing instructions of the organizer, which is localized in the dorsal shield. ..
- Waak J, Weber S, Görner K, Schall C, Ichijo H, Stehle T, et al. Oxidizable residues mediating protein stability and cytoprotective interaction of DJ-1 with apoptosis signal-regulating kinase 1. J Biol Chem. 2009;284:14245-57 pubmed publisher..We suggest that impairments in oxidative conformation changes of DJ-1 might contribute to PD neurodegeneration. ..
- Stevens L, Frohnhofer H, Klingler M, Nusslein Volhard C. Localized requirement for torso-like expression in follicle cells for development of terminal anlagen of the Drosophila embryo. Nature. 1990;346:660-3 pubmed..Thus, the spatially regulated expression of tsl in the follicle cell layer may generate a localized signal that is transduced by tor, ultimately resulting in the formation of the terminal structures of the embryo. ..
- Sattler T, Mayer A. Cell-free reconstitution of microautophagic vacuole invagination and vesicle formation. J Cell Biol. 2000;151:529-38 pubmed..Therefore, scission of the invaginated membrane must occur via a novel mechanism distinct from the homotypic fusion of vacuolar membranes. ..
- Moawia A, Shaheen R, Rasool S, Waseem S, Ewida N, Budde B, et al. Mutations of KIF14 cause primary microcephaly by impairing cytokinesis. Ann Neurol. 2017;82:562-577 pubmed publisher..Our data corroborate the role of an impaired cytokinesis in the etiology of primary and syndromic microcephaly, as has been proposed by recent findings on CIT mutations. Ann Neurol 2017;82:562-577. ..
- Kohle C, Möhrle B, Munzel P, Schwab M, Wernet D, Badary O, et al. Frequent co-occurrence of the TATA box mutation associated with Gilbert's syndrome (UGT1A1*28) with other polymorphisms of the UDP-glucuronosyltransferase-1 locus (UGT1A6*2 and UGT1A7*3) in Caucasians and Egyptians. Biochem Pharmacol. 2003;65:1521-7 pubmed..Frequent haplotypes containing several UGT1 allelic variants should be taken into account in studies on the association between diseases, abnormal drug reactions, and UGT1 family polymorphisms. ..
- Lager I, Fehr M, Frommer W, Lalonde S. Development of a fluorescent nanosensor for ribose. FEBS Lett. 2003;553:85-9 pubmed..Inhibitor studies suggest that uptake is mediated by a monosaccharide transporter of the GLUT family, however, ribose taken up into the cell was not or only slowly released, indicating irreversibility of uptake. ..
- Winter H, Braig C, Zimmermann U, Geisler H, Fränzer J, Weber T, et al. Thyroid hormone receptors TRalpha1 and TRbeta differentially regulate gene expression of Kcnq4 and prestin during final differentiation of outer hair cells. J Cell Sci. 2006;119:2975-84 pubmed..We show that T3 target genes can differ in their sensitivity to TH receptors having the ligand either bound (holoreceptors) or not bound (aporeceptors) within single cells, and suggest a role for TRalpha1 in final cell differentiation. ..
- Kaur J, Mencl S, Sahaboglu A, Farinelli P, van Veen T, Zrenner E, et al. Calpain and PARP activation during photoreceptor cell death in P23H and S334ter rhodopsin mutant rats. PLoS ONE. 2011;6:e22181 pubmed publisher..The identification of the same metabolic markers triggered by different mutations in two different species suggests the existence of common cell death mechanisms, which is a major consideration for any mutation independent treatment. ..
- Schlipf N, Beetz C, Schule R, Stevanin G, Erichsen A, Forlani S, et al. A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42). Eur J Hum Genet. 2010;18:1065-7 pubmed publisher..To date, as SPG42 has still not been identified in a second, unrelated family, systematic genetic testing for SLC33A1 mutations is not recommended. ..
- Schicks J, Synofzik M, Schulte C, Schols L. POLG, but not PEO1, is a frequent cause of cerebellar ataxia in Central Europe. Mov Disord. 2010;25:2678-82 pubmed publisher..It should be particularly considered in ataxia patients with PEO, psychiatric comorbidities, and/or sensory neuropathy, even if characteristic mitochondrial extra-CNS features are absent...
- Hübener J, Vauti F, Funke C, Wolburg H, Ye Y, Schmidt T, et al. N-terminal ataxin-3 causes neurological symptoms with inclusions, endoplasmic reticulum stress and ribosomal dislocation. Brain. 2011;134:1925-42 pubmed publisher..Consistent with the disease in humans, gene trap mice develop cytoplasmic inclusion bodies and implicate impaired unfolded protein response in the pathogenesis of spinocerebellar ataxia type 3. ..
- Stoffregen M, Schwer M, Renschler F, Wiesner S. Methionine scanning as an NMR tool for detecting and analyzing biomolecular interaction surfaces. Structure. 2012;20:573-81 pubmed publisher..Our data show that methionine scanning significantly extends the applicability, information content, and spatial resolution of methyl CSP experiments. ..
- Perathoner S, Daane J, Henrion U, Seebohm G, Higdon C, Johnson S, et al. Bioelectric signaling regulates size in zebrafish fins. PLoS Genet. 2014;10:e1004080 pubmed publisher..Our results provide evidence for a role of bioelectric signaling through K(+) channels in the regulation of allometric scaling and coordination of growth in the zebrafish. ..
- Stojiljkovic I, Hantke K. Transport of haemin across the cytoplasmic membrane through a haemin-specific periplasmic binding-protein-dependent transport system in Yersinia enterocolitica. Mol Microbiol. 1994;13:719-32 pubmed..We propose a model of haemin utilization in Y. enterocolitica in which HemT, HemU and HemV proteins transport haemin into the cytoplasm where it is degraded by HemS thereby liberating the iron...
- Facius D, Meyer T. A novel determinant (comA) essential for natural transformation competence in Neisseria gonorrhoeae and the effect of a comA defect on pilin variation. Mol Microbiol. 1993;10:699-712 pubmed..The results are in agreement with previous observations supporting the notion that multiple recombination pathways contribute to the variability of pilE...
- Kelsh R, Brand M, Jiang Y, Heisenberg C, Lin S, Haffter P, et al. Zebrafish pigmentation mutations and the processes of neural crest development. Development. 1996;123:369-89 pubmed..In combination with the embryological advantages of zebrafish, these mutations should permit cellular and molecular dissection of many aspects of neural crest development...
- Nicolson T, Rusch A, Friedrich R, Granato M, Ruppersberg J, Nusslein Volhard C. Genetic analysis of vertebrate sensory hair cell mechanosensation: the zebrafish circler mutants. Neuron. 1998;20:271-83 pubmed..The microphonics of lateral line hair cells of orbiter, mercury, and gemini larvae are absent or strongly reduced. Therefore, these genes may encode components of the transduction apparatus. ..
- Briesemeister S, Rahnenführer J, Kohlbacher O. Going from where to why--interpretable prediction of protein subcellular localization. Bioinformatics. 2010;26:1232-8 pubmed publisher..Moreover, we show that YLoc is able to reliably predict multiple locations and outperforms the best predictors in this area. www.multiloc.org/YLoc. ..
- Heichlinger A, Ammelburg M, Kleinschnitz E, Latus A, Maldener I, Fl rdh K, et al. The MreB-like protein Mbl of Streptomyces coelicolor A3(2) depends on MreB for proper localization and contributes to spore wall synthesis. J Bacteriol. 2011;193:1533-42 pubmed publisher..Our results revealed that MreB and Mbl cooperate in the synthesis of the thickened spore wall, while SCO6166 has a nonessential function during vegetative growth...
- Synofzik M, Maetzler W, Grehl T, Prudlo J, vom Hagen J, Haack T, et al. Screening in ALS and FTD patients reveals 3 novel UBQLN2 mutations outside the PXX domain and a pure FTD phenotype. Neurobiol Aging. 2012;33:2949.e13-7 pubmed publisher..Because the pathogenic mechanism of UBQLN2 mutations is not limited to its PXX region, UBQLN2 screening in neurodegenerative patients should not be limited to this region. ..
- Willing E, Dreyer C, van Oosterhout C. Estimates of genetic differentiation measured by F(ST) do not necessarily require large sample sizes when using many SNP markers. PLoS ONE. 2012;7:e42649 pubmed publisher..Therefore, conservation genetic studies can now obtain almost the same statistical power as studies performed on model organisms using markers developed with next-generation sequencing. ..
- Nusslein Volhard C, Frohnhofer H, Lehmann R. Determination of anteroposterior polarity in Drosophila. Science. 1987;238:1675-81 pubmed..Mutants in these genes lack either the anterior or posterior part of the segmented pattern. The unsegmented terminal embryonic regions require a third class of genes and form independently of the anterior and posterior centers. ..
- Sigrist S, Jacobs H, Stratmann R, Lehner C. Exit from mitosis is regulated by Drosophila fizzy and the sequential destruction of cyclins A, B and B3. EMBO J. 1995;14:4827-38 pubmed..Mutations in fzy block both sister chromosome separation and segregation, indicating that fzy plays a crucial role in the metaphase/anaphase transition. ..
- Harzer K, Knoblich R, Rolfs A, Bauer P, Eggers J. Residual galactosylsphingosine (psychosine) beta-galactosidase activities and associated GALC mutations in late and very late onset Krabbe disease. Clin Chim Acta. 2002;317:77-84 pubmed..If an active PS hydrolysis in the fibroblasts of a LOGLD patient also reflected such hydrolysis in the brain, the psychosine hypothesis for GLD may need to be revised. ..
- Catoni E, Schwab R, Hilpert M, Desimone M, Schwacke R, Flügge U, et al. Identification of an Arabidopsis mitochondrial succinate-fumarate translocator. FEBS Lett. 2003;534:87-92 pubmed..In mature plants, expression was found in developing and germinating pollen, suggesting a role in ethanolic fermentation. ..
- Hantke K. Is the bacterial ferrous iron transporter FeoB a living fossil?. Trends Microbiol. 2003;11:192-5 pubmed..Four of the five characteristic conserved G protein motifs have been identified in FeoB proteins. Whether FeoB is involved directly, via its Me(2+) binding site, or indirectly in Fe(2+) transport, remains to be investigated. ..
- Bitzer M, Lauer U. [Oncolytic viruses for genetic therapy of gastrointestinal tumors]. Z Gastroenterol. 2003;41:667-74 pubmed..Techniques of molecular virology are required for further improvement of current vectors, particularly with respect to oncolytic activity, tumour selectivity, tumour spread capacity, and safety. ..
- Seiler C, Finger Baier K, Rinner O, Makhankov Y, Schwarz H, Neuhauss S, et al. Duplicated genes with split functions: independent roles of protocadherin15 orthologues in zebrafish hearing and vision. Development. 2005;132:615-23 pubmed..We conclude that after a duplication of pcdh15, one gene retained an essential function in the ear and the other in the eye. ..
- Hulko M, Berndt F, Gruber M, Linder J, Truffault V, Schultz A, et al. The HAMP domain structure implies helix rotation in transmembrane signaling. Cell. 2006;126:929-40 pubmed publisher..coli chemotaxis receptor. Structural and functional studies show that the equilibrium between the two forms is dependent on the side-chain size of residue 291, which is alanine in the wild-type protein...
- Reinhard J, Messias A, Dietz K, MacKeben M, Lakmann R, Scholl H, et al. Quantifying fixation in patients with Stargardt disease. Vision Res. 2007;47:2076-85 pubmed..PRL eccentricity correlated positively with logMAR visual acuity (r=.72; p<.0001) and negatively with fixation stability (r=-.58; p<.0001). Multiple PRL were found only in three eyes...
- Schulenburg H, Ewbank J. The genetics of pathogen avoidance in Caenorhabditis elegans. Mol Microbiol. 2007;66:563-70 pubmed..We propose that the selective pressure associated with avoidance behaviours influence both pathogen and host evolution. ..
- Bonin M, Marx F, Kautzmann S, Riess O, Kruger R. Microarray expression analysis reveals genetic pathways implicated in C621 synphilin-1-mediated toxicity. J Neural Transm (Vienna). 2008;115:941-58 pubmed publisher..The most significantly regulated signalling network was defined by the tumor growth factor beta 1 (TGF-beta1) suggesting an involvement of synphilin-1 in TGF-beta mediated signalling pathways modulating the cellular stress response. ..
- Kitiratschky V, Wilke R, Renner A, Kellner U, Vadalà M, Birch D, et al. Mutation analysis identifies GUCY2D as the major gene responsible for autosomal dominant progressive cone degeneration. Invest Ophthalmol Vis Sci. 2008;49:5015-23 pubmed publisher..All identified mutations localize to codon 838. Haplotype analysis indicates that in most cases these mutations arise independently. Thus, codon 838 is likely to be a mutation hotspot in the GUCY2D gene. ..
- Munoz C, Saxena A, Pakladok T, Bogatikov E, Wilmes J, Seebohm G, et al. Stimulation of HERG channel activity by ?-catenin. PLoS ONE. 2012;7:e43353 pubmed publisher..The experiments uncover a novel function of APC/ß-catenin, i.e. the regulation of HERG channels...
- Courtot C, Fankhauser C, Simanis V, Lehner C. The Drosophila cdc25 homolog twine is required for meiosis. Development. 1992;116:405-16 pubmed..Phenotypic analysis of mat(2)synHB5 mutant flies revealed a complete block of meiosis in males and severe meiotic defects in females. ..
- Pojer F, Wemakor E, Kammerer B, Chen H, Walsh C, Li S, et al. CloQ, a prenyltransferase involved in clorobiocin biosynthesis. Proc Natl Acad Sci U S A. 2003;100:2316-21 pubmed..CloQ and the similar NovQ from the novobiocin producer seem to belong to a new class of prenyltransferases. ..
- Weisschuh N, Dressler P, Schuettauf F, Wolf C, Wissinger B, Gramer E. Novel mutations of FOXC1 and PITX2 in patients with Axenfeld-Rieger malformations. Invest Ophthalmol Vis Sci. 2006;47:3846-52 pubmed..To determine the prevalence of FOXC1 and PITX2 mutations and to assess clinical phenotypes in a cohort of German patients with Axenfeld-Rieger malformations...
- Jaworski M, Ittrich C, Hailfinger S, Bonin M, Buchmann A, Schwarz M, et al. Global gene expression in Ha-ras and B-raf mutated mouse liver tumors. Int J Cancer. 2007;121:1382-5 pubmed..The similarity in the patterns of global gene expression of Ha-ras and B-raf mutated liver tumors suggests that mutational activation of the 2 oncogenes results in activation of a common set of transcriptional regulators. ..
- Stern S, Debre E, Stritt C, Berger J, Posern G, Knöll B. A nuclear actin function regulates neuronal motility by serum response factor-dependent gene transcription. J Neurosci. 2009;29:4512-8 pubmed publisher..Thus, herein we provide first evidence that neuronal motility not only depends on cytoplasmic actin dynamics but also on the availability of actin to modulate nuclear functions such as gene transcription. ..
- Ossowski S, Schneeberger K, Lucas Lledó J, Warthmann N, Clark R, Shaw R, et al. The rate and molecular spectrum of spontaneous mutations in Arabidopsis thaliana. Science. 2010;327:92-4 pubmed publisher..We explain this very biased spectrum of base substitution mutations as a result of two main processes: deamination of methylated cytosines and ultraviolet light-induced mutagenesis. ..
- Krebiehl G, Ruckerbauer S, Burbulla L, Kieper N, Maurer B, Waak J, et al. Reduced basal autophagy and impaired mitochondrial dynamics due to loss of Parkinson's disease-associated protein DJ-1. PLoS ONE. 2010;5:e9367 pubmed publisher..Our study provides evidence for a critical role of DJ-1 in mitochondrial homeostasis by connecting basal autophagy and mitochondrial integrity in Parkinson's disease. ..
- Kampa Schittenhelm K, Heinrich M, Akmut F, Dohner H, Dohner K, Schittenhelm M. Quizartinib (AC220) is a potent second generation class III tyrosine kinase inhibitor that displays a distinct inhibition profile against mutant-FLT3, -PDGFRA and -KIT isoforms. Mol Cancer. 2013;12:19 pubmed publisher..Quizartinib is a potent second-generation class III receptor TK-inhibitor--but specific, mutation restricted spectrum of activity may require mutation screening prior to therapy. ..
- Peter D, Weber R, Sandmeir F, Wohlbold L, Helms S, Bawankar P, et al. GIGYF1/2 proteins use auxiliary sequences to selectively bind to 4EHP and repress target mRNA expression. Genes Dev. 2017;31:1147-1161 pubmed publisher..Our studies provide structural insights into the assembly of 4EHP-GIGYF1/2 repressor complexes and reveal that rather than merely facilitating 4EHP recruitment to transcripts, GIGYF1/2 proteins are required for repressive activity. ..
- Ottmann C, Marco S, Jaspert N, Marcon C, Schauer N, Weyand M, et al. Structure of a 14-3-3 coordinated hexamer of the plant plasma membrane H+ -ATPase by combining X-ray crystallography and electron cryomicroscopy. Mol Cell. 2007;25:427-40 pubmed..Fitting of 14-3-3 and H(+)-ATPase atomic structures into the 3D reconstruction map suggests the spatial arrangement of the holocomplex. ..
- Zourelidou M, Müller I, Willige B, Nill C, Jikumaru Y, Li H, et al. The polarly localized D6 PROTEIN KINASE is required for efficient auxin transport in Arabidopsis thaliana. Development. 2009;136:627-36 pubmed publisher..Taken together, our data show that D6PK is required for efficient auxin transport and suggest that PIN proteins are D6PK phosphorylation targets. ..
- Eskova A, Chauvigné F, Maischein H, Ammelburg M, Cerdà J, NUSSLEIN VOLHARD C, et al. Gain-of-function mutations in Aqp3a influence zebrafish pigment pattern formation through the tissue environment. Development. 2017;144:2059-2069 pubmed publisher..These results demonstrate an important effect of the tissue environment on pigment cell behaviour and, thereby, on pattern formation. ..
- Leptin M. twist and snail as positive and negative regulators during Drosophila mesoderm development. Genes Dev. 1991;5:1568-76 pubmed..twist is also required for the full expression of snail and for the maintenance of its own expression. Only the absence of both twist and snail results in the complete loss of all mesodermal characteristics. ..
- Leippert M, Beck E, Weiland F, Pfaff E. Point mutations within the betaG-betaH loop of foot-and-mouth disease virus O1K affect virus attachment to target cells. J Virol. 1997;71:1046-51 pubmed..The resulting virus particles were able to infect BHK-21 cells. These results demonstrate the important role of the RGD sequence in FMDV binding to cells but also emphasize the influence of other amino acids in the bordering region. ..
- St Johnston D, Driever W, Berleth T, Richstein S, Nusslein Volhard C. Multiple steps in the localization of bicoid RNA to the anterior pole of the Drosophila oocyte. Development. 1989;107 Suppl:13-9 pubmed..During a final phase that must occur between stage 12 of oogenesis and egg deposition, the RNA becomes localized to a spherical region that occupies a slightly dorsal position at the anterior pole.(ABSTRACT TRUNCATED AT 250 WORDS) ..
- Kupka S, Braun S, Aberle S, Haack B, Ebauer M, Zeissler U, et al. Frequencies of GJB2 mutations in German control individuals and patients showing sporadic non-syndromic hearing impairment. Hum Mutat. 2002;20:77-8 pubmed..This study revealed one novel silent mutation (438C/T), three novel gene variants resulting in amino acid substitutions (K112E, T123S, K223R) and two novel HI-related mutations (I82M, 313del14). ..
- Fedtke I, Kamps A, Krismer B, Gotz F. The nitrate reductase and nitrite reductase operons and the narT gene of Staphylococcus carnosus are positively controlled by the novel two-component system NreBC. J Bacteriol. 2002;184:6624-34 pubmed
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- Kapp K, Siemens J, Weyrich P, Schulz J, Haring H, Lammers R. Extracellular domain splice variants of a transforming protein tyrosine phosphatase alpha mutant differentially activate Src-kinase dependent focus formation. Genes Cells. 2007;12:63-73 pubmed..We conclude that the two splice variants of PTPalpha are expressed differentially and regulate c-Src activity in different ways. ..
- Geisler R, Rauch G, Geiger Rudolph S, Albrecht A, van Bebber F, Berger A, et al. Large-scale mapping of mutations affecting zebrafish development. BMC Genomics. 2007;8:11 pubmed..Furthermore this work validates the usefulness of our methodology for rapid, systematic and inexpensive microsatellite mapping of zebrafish mutations. ..
- Krumpe K, Frumkin I, Herzig Y, Rimon N, Ozbalci C, Brugger B, et al. Ergosterol content specifies targeting of tail-anchored proteins to mitochondrial outer membranes. Mol Biol Cell. 2012;23:3927-35 pubmed publisher..We therefore suggest that the inherent differences in membrane composition between organelle membranes are sufficient to determine membrane integration specificity in a eukaryotic cell. ..