Genomes and Genes
Experts and Doctors on mutation in Germany
Publications560 found, 100 shown here
- Gopel W, Gortner L, Kohlmann T, Schultz C, Moller J. Low prevalence of large intraventricular haemorrhage in very low birthweight infants carrying the factor V Leiden or prothrombin G20210A mutation. Acta Paediatr. 2001;90:1021-4 pubmed..12; 95%CI: 0.017-0.86). The data suggest that the factor V Leiden and prothrombin G20210A mutations lead to improved control of intraventricular bleeding in very low birthweight infants. ..
- Zeh M, Leggewie G, Hoefgen R, Hesse H. Cloning and characterization of a cDNA encoding a cobalamin-independent methionine synthase from potato (Solanum tuberosum L.). Plant Mol Biol. 2002;48:255-65 pubmed..This experiment confirmed the presence of a day/night rhythm. Methionine synthase expression is regulated by photoassimilates but this seems not to detectably alter protein levels...
- Rudolph J, Osterrieder N. Equine herpesvirus type 1 devoid of gM and gp2 is severely impaired in virus egress but not direct cell-to-cell spread. Virology. 2002;293:356-67 pubmed..From the results it was concluded that the simultaneous absence of gM and gp2 had an additive effect on egress but not secondary envelopment or cell-to-cell spread of EHV-1. ..
- Kretzschmar U, Rückert A, Jeoung J, Görisch H. Malate:quinone oxidoreductase is essential for growth on ethanol or acetate in Pseudomonas aeruginosa. Microbiology. 2002;148:3839-47 pubmed..mqo of P. aeruginosa ATCC 17933 corresponds to mqoB (PA4640) of the P. aeruginosa PAO1 genome project. ..
- Mogk A, Schlieker C, Strub C, Rist W, Weibezahn J, Bukau B. Roles of individual domains and conserved motifs of the AAA+ chaperone ClpB in oligomerization, ATP hydrolysis, and chaperone activity. J Biol Chem. 2003;278:17615-24 pubmed publisher..The N-domain is dispensable for oligomerization and for the disaggregating activity in vitro and in vivo. In contrast the presence of the linker region, although not involved in oligomerization, is essential for ClpB chaperone activity...
- Paffenholz R, Bergstrom R, Pasutto F, Wabnitz P, Munroe R, Jagla W, et al. Vestibular defects in head-tilt mice result from mutations in Nox3, encoding an NADPH oxidase. Genes Dev. 2004;18:486-91 pubmed..This series of mutations identifies for the first time a protein with a clear enzymatic function as indispensable for otoconia morphogenesis. ..
- Burger M, Denzinger S, Hammerschmied C, Tannapfel A, Maderstorfer A, Wieland W, et al. Mitogen-activated protein kinase signaling is activated in prostate tumors but not mediated by B-RAF mutations. Eur Urol. 2006;50:1102-9; discussion 1109-10 pubmed..MSI is infrequent in prostate cancer and is not linked to B-RAF mutations. MAPK signaling is frequently activated in prostate tumors and might be suitable for a therapeutic approach. ..
- Tillich M, Lehwark P, Morton B, Maier U. The evolution of chloroplast RNA editing. Mol Biol Evol. 2006;23:1912-21 pubmed..This is the first comprehensive model for the evolution of the chloroplast RNA-editing system of land plants and may also be applicable to the evolution of RNA editing in plant mitochondria...
- Liebe B, Petukhova G, Barchi M, Bellani M, Braselmann H, Nakano T, et al. Mutations that affect meiosis in male mice influence the dynamics of the mid-preleptotene and bouquet stages. Exp Cell Res. 2006;312:3768-81 pubmed..Altogether, it appears that several pathways influence telomere dynamics in mammalian meiosis. ..
- Danckwardt S, Kaufmann I, Gentzel M, Foerstner K, Gantzert A, Gehring N, et al. Splicing factors stimulate polyadenylation via USEs at non-canonical 3' end formation signals. EMBO J. 2007;26:2658-69 pubmed..These data uncover a novel mechanism that functionally links the splicing and 3' end formation machineries of multiple cellular mRNAs in an USE-dependent manner. ..
- Gassanov N, Er F, Michels G, Zagidullin N, Brandt M, Hoppe U. Divergent regulation of cardiac KCND3 potassium channel expression by the thyroid hormone receptors alpha1 and beta1. J Physiol. 2009;587:1319-29 pubmed publisher..Thus, I(to) is modulated by diverse T3-dependent regulation of underlying gene transcription. TRalpha1 and TRbeta1 exhibit distinct effects on KCND3 transactivation with TRalpha1 enhancing and TRbeta1 suppressing KCND3 transcription. ..
- Paul M, Wichter T, Kies P, Gerss J, Wollmann C, Rahbar K, et al. Cardiac sympathetic dysfunction in genotyped patients with arrhythmogenic right ventricular cardiomyopathy and risk of recurrent ventricular tachyarrhythmias. J Nucl Med. 2011;52:1559-65 pubmed publisher..In this study, we investigated the potential role of adrenergic dysfunction on the arrhythmia profile in patients with ARVC and correlated these findings with the causative genotype...
- Kuhlmann M, Mette M. Developmentally non-redundant SET domain proteins SUVH2 and SUVH9 are required for transcriptional gene silencing in Arabidopsis thaliana. Plant Mol Biol. 2012;79:623-33 pubmed publisher..Pol V specific transcripts were reduced in suvh2 suvh9 plants. This might indicate a role of these SUVH proteins in Pol V complex recruitment. ..
- Hartwig B, James G, Konrad K, Schneeberger K, Turck F. Fast isogenic mapping-by-sequencing of ethyl methanesulfonate-induced mutant bulks. Plant Physiol. 2012;160:591-600 pubmed publisher..Genetic analysis of two independent additional alleles confirmed that this mutation was causal for the suppression of lhp1. ..
- Failmezger H, Jaegle B, Schrader A, Hulskamp M, Tresch A. Semi-automated 3D leaf reconstruction and analysis of trichome patterning from light microscopic images. PLoS Comput Biol. 2013;9:e1003029 pubmed publisher..We show that 3D modeling removes biases of simpler 2D models and that novel trichome patterning features increase the sensitivity for inter-accession comparisons. ..
- Kumar K, Lohmann K, Masuho I, Miyamoto R, Ferbert A, Lohnau T, et al. Mutations in GNAL: a novel cause of craniocervical dystonia. JAMA Neurol. 2014;71:490-4 pubmed publisher..Mutations in GNAL can cause craniocervical dystonia in different ethnicities. The BRET assay may be a useful tool to support the pathogenicity of identified variants in the GNAL gene. ..
- Noguera Julian M, Cozzi Lepri A, Di Giallonardo F, Schuurman R, DÃ¤umer M, Aitken S, et al. Contribution of APOBEC3G/F activity to the development of low-abundance drug-resistant human immunodeficiency virus type 1 variants. Clin Microbiol Infect. 2016;22:191-200 pubmed publisher..In conclusion, the contribution of APOBEC3G/F editing to the development of DRMVs is very limited and does not affect the efficacy of non-nucleoside reverse transcriptase inhibitor ART. ..
- Barinka C, Ptacek J, Richter A, Novakova Z, Morath V, Skerra A. Selection and characterization of Anticalins targeting human prostate-specific membrane antigen (PSMA). Protein Eng Des Sel. 2016;29:105-15 pubmed publisher..Taken together, Anticalins resulting from this study offer a viable alternative to antibody-based PSMA binders for biomedical applications, including in vivo imaging of PCa or neovasculature of solid tumors. ..
- Ovsepian S, LeBerre M, Steuber V, O Leary V, Leibold C, Oliver Dolly J. Distinctive role of KV1.1 subunit in the biology and functions of low threshold K(+) channels with implications for neurological disease. Pharmacol Ther. 2016;159:93-101 pubmed publisher..Future research and interpretation of emerging data should afford new insights towards a better understanding of the role of KV1.1 in integrative mechanisms of neurons and synaptic functions under normal and disease conditions. ..
- Bauer A, Kölling R. The SAC3 gene encodes a nuclear protein required for normal progression of mitosis. J Cell Sci. 1996;109 ( Pt 6):1575-83 pubmed..This finding suggests that SAC3 is involved, directly or indirectly, in microtubule function. In summary, our data indicate that SAC3 is involved in a process which affects both the actin cytoskeleton and mitosis. ..
- Görke B, Rak B. Catabolite control of Escherichia coli regulatory protein BglG activity by antagonistically acting phosphorylations. EMBO J. 1999;18:3370-9 pubmed..Thus, the PTS may represent a highly integrated signal transduction network in carbon catabolite control. ..
- Sevvana M, Biadene M, Ma Q, Guo C, Soling H, Sheldrick G, et al. Structural elucidation of the PDI-related chaperone Wind with the help of mutants. Acta Crystallogr D Biol Crystallogr. 2006;62:589-94 pubmed
- Kaufmann A, Keim A, Thiel G. Regulation of immediate-early gene transcription following activation of G?(q)-coupled designer receptors. J Cell Biochem. 2013;114:681-96 pubmed publisher..The fact that R?(q) stimulation activates the transcription factors Egr-1, Elk-1, AP-1, and CREB indicates that regulation of gene transcription is an integral part of G?(q)-coupled receptor signaling. ..
- Zeitlmann L, Sirim P, Kremmer E, Kolanus W. Cloning of ACP33 as a novel intracellular ligand of CD4. J Biol Chem. 2001;276:9123-32 pubmed..This suggests a previously unrecognized function for alpha/beta hydrolase fold domains as a peptide binding module mediating protein-protein interactions. ..
- Mösch H, Kohler T, Braus G. Different domains of the essential GTPase Cdc42p required for growth and development of Saccharomyces cerevisiae. Mol Cell Biol. 2001;21:235-48 pubmed
- Galani K, Grosshans H, Deinert K, Hurt E, Simos G. The intracellular location of two aminoacyl-tRNA synthetases depends on complex formation with Arc1p. EMBO J. 2001;20:6889-98 pubmed..We suggest that the organization of aminoacyl-tRNA synthetases into a multimeric complex not only affects catalysis, but is also a means of segregating the tRNA- aminoacylation machinery mainly to the cytoplasmic compartment. ..
- Sondermann H, Ho A, Listenberger L, Siegers K, Moarefi I, Wente S, et al. Prediction of novel Bag-1 homologs based on structure/function analysis identifies Snl1p as an Hsp70 co-chaperone in Saccharomyces cerevisiae. J Biol Chem. 2002;277:33220-7 pubmed..Thus, Snl1p is the first Bag domain protein identified in S. cerevisiae, and its interaction with Hsp70 is essential for biological activity. ..
- Michalski C, Cui Y, Nies A, Nuessler A, Neuhaus P, Zanger U, et al. A naturally occurring mutation in the SLC21A6 gene causing impaired membrane localization of the hepatocyte uptake transporter. J Biol Chem. 2002;277:43058-63 pubmed..Importantly, most of the mutant protein SLC21A6-L193R was retained intracellularly, and this single amino acid exchange abolished transport function. ..
- Gut M, Parkkila S, Vernerová Z, Rohde E, Zavada J, Hocker M, et al. Gastric hyperplasia in mice with targeted disruption of the carbonic anhydrase gene Car9. Gastroenterology. 2002;123:1889-903 pubmed..Phenotypic consequences of the Car9 null mutation show the important role of CA IX in morphogenesis and homeostasis of the glandular gastric epithelium via the control of cell proliferation and differentiation. ..
- Senderek J, Bergmann C, Ramaekers V, Nelis E, Bernert G, Makowski A, et al. Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy. Brain. 2003;126:642-9 pubmed..These findings fitted the definition of intermediate type CMT and further support the view that GDAP1 is vital for both, axonal integrity and Schwann cell properties. ..
- Brötz Oesterhelt H, Knezevic I, Bartel S, Lampe T, Warnecke Eberz U, Ziegelbauer K, et al. Specific and potent inhibition of NAD+-dependent DNA ligase by pyridochromanones. J Biol Chem. 2003;278:39435-42 pubmed
- Sun Y, Grimmler M, Schwarzer V, Schoenen F, Fischer U, Wirth B. Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy. Hum Mutat. 2005;25:64-71 pubmed..However, all mutations, including those in exon 2a, a region shown to be important for the binding of SMN to SIP1, do not disturb the interaction of SMN to SIP1. ..
- Pfander B, Moldovan G, Sacher M, Hoege C, Jentsch S. SUMO-modified PCNA recruits Srs2 to prevent recombination during S phase. Nature. 2005;436:428-33 pubmed..Our finding suggests a model in which SUMO-modified PCNA recruits Srs2 in S phase in order to prevent unwanted recombination events of replicating chromosomes. ..
- Hanke S, Valkova C, Stirnweiss J, Drube S, Liebmann C. Activated EGF receptor may balance ERK-inhibitory network signalling pathways. Cell Signal. 2006;18:1031-40 pubmed..Our findings suggest that the EGFR may control the cellular network rather by balancing mechanisms then by switch on/off reactions. ..
- Gerega A, Rockel B, Peters J, Tamura T, Baumeister W, Zwickl P. VAT, the thermoplasma homolog of mammalian p97/VCP, is an N domain-regulated protein unfoldase. J Biol Chem. 2005;280:42856-62 pubmed publisher..In contrast, two neighboring residues in the D2 section of the pore had to be exchanged simultaneously, to achieve a drastic inhibition of GFP unfolding...
- Arakawa H. Immunoglobulin gene conversion and hypermutation assay by FACs. Subcell Biochem. 2006;40:351-2 pubmed..To minimize the fluctuation of gene conversion or hypermutation events, it is needed to analyze many subclones of the DT40 mutant for calculating average sIgM (-) or (+) percentage. ..
- Habjan M, Penski N, Spiegel M, Weber F. T7 RNA polymerase-dependent and -independent systems for cDNA-based rescue of Rift Valley fever virus. J Gen Virol. 2008;89:2157-66 pubmed publisher..Moreover, the finding that BHK-derived cell lines have a compromised RIG-I pathway may explain their suitability for propagating and rescuing a wide variety of viruses. ..
- Cole M, Chandler J, Weijers D, Jacobs B, Comelli P, Werr W. DORNROSCHEN is a direct target of the auxin response factor MONOPTEROS in the Arabidopsis embryo. Development. 2009;136:1643-51 pubmed publisher..Hence, DRN represents a direct target of MP and functions downstream of MP in cotyledon development. ..
- Kohlmann A, Grossmann V, Klein H, Schindela S, Weiss T, Kazak B, et al. Next-generation sequencing technology reveals a characteristic pattern of molecular mutations in 72.8% of chronic myelomonocytic leukemia by detecting frequent alterations in TET2, CBL, RAS, and RUNX1. J Clin Oncol. 2010;28:3858-65 pubmed publisher..Here, NGS screening has been demonstrated to support a comprehensive characterization of the molecular background in CMML. A pattern of molecular mutations translates into different biologic and prognostic categories of CMML. ..
- Schicklberger M, Bücking C, Schuetz B, Heide H, Gescher J. Involvement of the Shewanella oneidensis decaheme cytochrome MtrA in the periplasmic stability of the beta-barrel protein MtrB. Appl Environ Microbiol. 2011;77:1520-3 pubmed publisher..Quantitative PCR, heterologous gene expression, and mutant studies indicated that MtrA is required for periplasmic stability of MtrB. DegP depletion compensated for this MtrA dependence...
- Mentrup B, Marschall C, Barvencik F, Amling M, Plendl H, Jakob F, et al. Functional characterization of a novel mutation localized in the start codon of the tissue-nonspecific alkaline phosphatase gene. Bone. 2011;48:1401-8 pubmed publisher..The question if or if not carriers of ALPL mutations in general or only with distinct genotypes can be symptomatic in normal life or in challenge situations requires systematic clinical studies. ..
- Aktas M, Jost K, Fritz C, Narberhaus F. Choline uptake in Agrobacterium tumefaciens by the high-affinity ChoXWV transporter. J Bacteriol. 2011;193:5119-29 pubmed publisher..The structural model of ChoX built on Sinorhizobium meliloti ChoX resembles the typical structure of substrate binding proteins with a so-called "Venus flytrap mechanism" of substrate binding. ..
- Reynolds J, Bicknell L, Carroll P, Higgs M, Shaheen R, Murray J, et al. Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism. Nat Genet. 2017;49:537-549 pubmed publisher..In summary, we have identified mutations in DONSON as a common cause of microcephalic dwarfism and established DONSON as a critical replication fork protein required for mammalian DNA replication and genome stability. ..
- Acuna Hidalgo R, Deriziotis P, Steehouwer M, Gilissen C, Graham S, van Dam S, et al. Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies. PLoS Genet. 2017;13:e1006683 pubmed publisher..Drawing on previous studies of somatic SETBP1 mutations in leukemia, our results reveal a genotype-phenotype correlation in germline SETBP1 mutations spanning a molecular, cellular and clinical phenotype. ..
- Monschau N, Stahmann K, Sahm H, McNeil J, Bognar A. Identification of Saccharomyces cerevisiae GLY1 as a threonine aldolase: a key enzyme in glycine biosynthesis. FEMS Microbiol Lett. 1997;150:55-60 pubmed..On ethanol as carbon source simultaneous disruption of GLY1, SHM1 and SHM2 did not lead to glycine auxotrophy because glycine biosynthesis proceeds via alanine glyoxylate aminotransferase. ..
- Sticht H, Gallert K, Krauss G, Rosch P. Homology modeling of adenylosuccinate synthetase from Saccharomyces cerevisiae reveals a possible binding region for single-stranded ARS sequences. J Biomol Struct Dyn. 1997;14:667-75 pubmed..The mutant enzyme shows larger structural fluctuations than the wild-type protein according to the results of two independent molecular dynamics simulations. ..
- Tomoyasu T, Mogk A, Langen H, Goloubinoff P, Bukau B. Genetic dissection of the roles of chaperones and proteases in protein folding and degradation in the Escherichia coli cytosol. Mol Microbiol. 2001;40:397-413 pubmed..At 42 degrees C, ClpXP and Lon became essential for viability of cells with low DnaK levels, indicating synergistic action of proteases and the DnaK system, which is essential for cell growth at 42 degrees C. ..
- Meister G, Hannus S, Plöttner O, Baars T, Hartmann E, Fakan S, et al. SMNrp is an essential pre-mRNA splicing factor required for the formation of the mature spliceosome. EMBO J. 2001;20:2304-14 pubmed..We suggest that SMNrp, as a U2 snRNP-associated protein, facilitates the recruitment of the [U4/U6.U5] tri-snRNP to the pre-spliceosome. ..
- Krubasik P, Takaichi S, Maoka T, Kobayashi M, Masamoto K, Sandmann G. Detailed biosynthetic pathway to decaprenoxanthin diglucoside in Corynebacterium glutamicum and identification of novel intermediates. Arch Microbiol. 2001;176:217-23 pubmed..The identification of these intermediates revealed the detailed pathway for the formation of decaprenoxanthin derivatives in Corynebacterium glutamicum. ..
- Müller H. Germ cell migration: as slow as molasses. Curr Biol. 2002;12:R612-4 pubmed..In Drosophila embryos, germ cells and somatic cells are formed separately. A recent analysis of the slow as molasses (slam) gene provides a potential link between somatic cell formation and germ cell migration. ..
- Sträter R, Becker S, von Eckardstein A, Heinecke A, Gutsche S, Junker R, et al. Prospective assessment of risk factors for recurrent stroke during childhood--a 5-year follow-up study. Lancet. 2002;360:1540-5 pubmed..9, 95% CI 1.4-10.6). Raised lipoprotein (a), protein C deficiency, and stroke of vascular origin are risk factors for recurrent arterial ischaemic stroke in childhood. ..
- Gambaryan S, Butt E, Marcus K, Glazova M, Palmetshofer A, Guillon G, et al. cGMP-dependent protein kinase type II regulates basal level of aldosterone production by zona glomerulosa cells without increasing expression of the steroidogenic acute regulatory protein gene. J Biol Chem. 2003;278:29640-8 pubmed..The results presented indicate that PKG II activity in ZG cells is important for maintaining basal aldosterone production...
- Ma Q, Guo C, Barnewitz K, Sheldrick G, Soling H, Uson I, et al. Crystal structure and functional analysis of Drosophila Wind, a protein-disulfide isomerase-related protein. J Biol Chem. 2003;278:44600-7 pubmed
- Borowiak M, Garratt A, Wüstefeld T, Strehle M, Trautwein C, Birchmeier C. Met provides essential signals for liver regeneration. Proc Natl Acad Sci U S A. 2004;101:10608-13 pubmed..Our data demonstrate that the HGF/SF/Met signaling system is essential not only during liver development but also for the regeneration of the organ in the adult. ..
- Gatphayak K, Knorr C, Chen K, Brenig B. Structural and expression analysis of the porcine FUS2 gene. Gene. 2004;337:105-11 pubmed..Knowledge of structure and function of the respective porcine genes and proteins is important. Pigs-in particular minipigs-will be the non-rodent biomodels for human oncology and cancer therapy in the future. ..
- Hoffmann F, Lohse P, Stojanov S, Shin Y, Renner E, Kéry A, et al. Identification of a novel mevalonate kinase gene mutation in combination with the common MVK V377I substitution and the low-penetrance TNFRSF1A R92Q mutation. Eur J Hum Genet. 2005;13:510-2 pubmed..The girl was also heterozygous for the TNFRSF1A R92Q low-penetrance mutation, which may have significant proinflammatory effects. However, at the time of presentation, the patient had no TRAPS-associated symptoms. ..
- Klupp B, Altenschmidt J, Granzow H, Fuchs W, Mettenleiter T. Identification and characterization of the pseudorabies virus UL43 protein. Virology. 2005;334:224-33 pubmed publisher..Double mutant viruses lacking, in addition to UL43, the multiply membrane spanning glycoproteins K or M did not show a phenotype beyond that observed in the gK and gM single deletion mutants...
- Bogdanova N, Markoff A, Pollmann H, Nowak Gottl U, Eisert R, Wermes C, et al. Spectrum of molecular defects and mutation detection rate in patients with severe hemophilia A. Hum Mutat. 2005;26:249-54 pubmed..The newly detected amino acid substitutions were scored for potential gross or local conformational changes and influence on molecular stability for every single F8 domain with available structures, using homology modeling. ..
- Koetter J, Schulz G. Crystal structure of 6-hydroxy-D-nicotine oxidase from Arthrobacter nicotinovorans. J Mol Biol. 2005;352:418-28 pubmed..A model of this "sister enzyme" derived from known homologous structures suggests that the reported L-substrate specificity and D-enantiomer inhibition are also determined by the location of the deprotonating base...
- Wegscheid B, Condon C, Hartmann R. Type A and B RNase P RNAs are interchangeable in vivo despite substantial biophysical differences. EMBO Rep. 2006;7:411-7 pubmed
- Wildner H, Muller T, Cho S, Bröhl D, Cepko C, Guillemot F, et al. dILA neurons in the dorsal spinal cord are the product of terminal and non-terminal asymmetric progenitor cell divisions, and require Mash1 for their development. Development. 2006;133:2105-13 pubmed..Our data allow us to assign to Mash1 a function in asymmetric cell divisions, and indicate that the factor coordinates cell cycle exit and specification in the one daughter that gives rise to a dILA neuron. ..
- Gross T, Siepmann A, Sturm D, Windgassen M, Scarcelli J, Seedorf M, et al. The DEAD-box RNA helicase Dbp5 functions in translation termination. Science. 2007;315:646-9 pubmed..Therefore, Dbp5 controls the eRF3-eRF1 interaction and thus eRF3-mediated downstream events. ..
- Ihnatowicz A, Pesaresi P, Lohrig K, Wolters D, Müller B, Leister D. Impaired photosystem I oxidation induces STN7-dependent phosphorylation of the light-harvesting complex I protein Lhca4 in Arabidopsis thaliana. Planta. 2008;227:717-22 pubmed..Thus, under extreme redox conditions, hyperactivation of thylakoid protein kinases and/or reorganization of thylakoid protein complex distribution increase the susceptibility of PSI to phosphorylation. ..
- Agarwal V, Hammerschmidt S. Cdc42 and the phosphatidylinositol 3-kinase-Akt pathway are essential for PspC-mediated internalization of pneumococci by respiratory epithelial cells. J Biol Chem. 2009;284:19427-36 pubmed publisher..This unique and specific bacterial entry process is dependent on the cooperation and activation of Rho family GTPase Cdc42, PI3K, and Akt. ..
- Airik R, Trowe M, Foik A, Farin H, Petry M, Schuster Gossler K, et al. Hydroureternephrosis due to loss of Sox9-regulated smooth muscle cell differentiation of the ureteric mesenchyme. Hum Mol Genet. 2010;19:4918-29 pubmed publisher..Together, our results argue that obstructive uropathies in campomelic dysplasia patients that are heterozygous for mutations in and around SOX9 arise from a primary requirement of Sox9 in the development of the ureteric mesenchyme. ..
- Pott W, Albayrak O, Hinney A, Hebebrand J, Pauli Pott U. Successful treatment with atomoxetine of an adolescent boy with attention deficit/hyperactivity disorder, extreme obesity, and reduced melanocortin 4 receptor function. Obes Facts. 2013;6:109-15 pubmed publisher..Recent case reports suggest a link between reduced melanocortinergic tone and both obesity and attention deficit / hyperactivity disorder (ADHD). We present the case of a 13-year-old, male, obese MC4R mutation carrier with ADHD...
- Zhang G, Beati H, Nilsson J, Wodarz A. The Drosophila microtubule-associated protein mars stabilizes mitotic spindles by crosslinking microtubules through its N-terminal region. PLoS ONE. 2013;8:e60596 pubmed publisher..Here we show that Mars is able to stabilize the mitotic spindle in vivo. Both in vivo and in vitro data reveal that the N-terminal region of Mars functions in the stabilization of the mitotic spindle by crosslinking adjacent MTs...
- 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. ..
- Danhauser K, Herebian D, Haack T, Rodenburg R, Strom T, Meitinger T, et al. Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9. Eur J Hum Genet. 2016;24:450-4 pubmed publisher..Moreover, the rescue of cellular CoQ10 levels and respiratory chain complex activities by CoQ10 supplementation points to the importance of an early diagnosis and immediate treatment. ..
- Lieber M, Kallinich T, Lohse P, Klotsche J, Holzinger D, Foell D, et al. Increased serum concentrations of neutrophil-derived protein S100A12 in heterozygous carriers of MEFV mutations. Clin Exp Rheumatol. 2015;33:S113-6 pubmed..Possibly, S100A12 could be a prognostic biomarker to detect individuals at risk of FMF manifestation who might benefit from colchicine therapy. ..
- Santos Rosa H, Moreno H, Simos G, Segref A, Fahrenkrog B, Pante N, et al. Nuclear mRNA export requires complex formation between Mex67p and Mtr2p at the nuclear pores. Mol Cell Biol. 1998;18:6826-38 pubmed..Thus, Mex67p and Mtr2p constitute a novel mRNA export complex which can bind to RNA via Mex67p and which interacts with nuclear pores via Mtr2p. ..
- Kluwe L, Mautner V. Mosaicism in sporadic neurofibromatosis 2 patients. Hum Mol Genet. 1998;7:2051-5 pubmed..These findings suggest that mosaicism is relatively common in NF2 and may have important implications for diagnosis, prognosis and genetic counseling. ..
- Braulke T. Type-2 IGF receptor: a multi-ligand binding protein. Horm Metab Res. 1999;31:242-6 pubmed..Specific alterations in the expression, activation and routing of both IGF2R and its ligands in human and rodent tumors suggest that the IGF2R functions as a tumor suppressor. ..
- Korsch E, Peter M, Hiort O, Sippell W, Ure B, Hauffa B, et al. Gonadal histology with testicular carcinoma in situ in a 15-year-old 46,XY female patient with a premature termination in the steroidogenic acute regulatory protein causing congenital lipoid adrenal hyperplasia. J Clin Endocrinol Metab. 1999;84:1628-32 pubmed..This is the first report on testicular morphology, at a pubertal age, in a female patient with 46,XY karyotype and a mutation in the StAR gene, in whom gonadal neoplasia had developed. ..
- Popanda O, Flohr T, Fox G, Thielmann H. A mutation detected in DNA polymerase delta cDNA from Novikoff hepatoma cells correlates with abnormal catalytic properties of the enzyme. J Cancer Res Clin Oncol. 1999;125:598-608 pubmed..We conclude that the point mutation detected in the cDNA might be causally related to the observed changes in inhibition characteristics and copying fidelity. ..
- Shamsadin R, Adham I, Nayernia K, Heinlein U, Oberwinkler H, Engel W. Male mice deficient for germ-cell cyritestin are infertile. Biol Reprod. 1999;61:1445-51 pubmed..These results demonstrate that cyritestin is crucial in the fertilization process at the level of the sperm-zona pellucida interaction. ..
- Baake M, Doenecke D, Albig W. Characterisation of nuclear localisation signals of the four human core histones. J Cell Biochem. 2001;81:333-46 pubmed..We conclude that the nuclear targeting of core histones requires information conferred by the globular domain conformation. ..
- Pires daSilva A, Nayernia K, Engel W, Torres M, Stoykova A, Chowdhury K, et al. Mice deficient for spermatid perinuclear RNA-binding protein show neurologic, spermatogenic, and sperm morphological abnormalities. Dev Biol. 2001;233:319-28 pubmed..Our findings suggest that SPNR plays an important role in normal spermatogenesis and sperm function. Thus, the Spnr(GT/GT) mutant male mouse provides a unique model for some human male infertility cases. ..
- Breitinger H, Villmann C, Becker K, Becker C. Opposing effects of molecular volume and charge at the hyperekplexia site alpha 1(P250) govern glycine receptor activation and desensitization. J Biol Chem. 2001;276:29657-63 pubmed..These observations characterize the short intracellular TM1-2 loop as a regulatory domain for channel activation and a crucial mediator of glycine receptor desensitization. ..
- Dörr S, Schlicker M, Hansmann I. Genomic structure of karyopherin alpha2 ( KPNA2) within a low-copy repeat on chromosome 17q23-q24 and mutation analysis in patients with Russell-Silver syndrome. Hum Genet. 2001;109:479-86 pubmed..No disease-related mutation was identified by comparing the sequence data of the RSS patients with their clinically normal parents and controls. ..
- Mendel R, Hansch R. Molybdoenzymes and molybdenum cofactor in plants. J Exp Bot. 2002;53:1689-98 pubmed..After insertion, xanthine dehydrogenase and aldehyde oxidase, but not nitrate reductase and sulphite oxidase, require the addition of a terminal sulphur ligand to their Mo-site, which is catalysed by the sulphur transferase ABA3. ..
- Baltatu O, Cayla C, Iliescu R, Andreev D, Jordan C, Bader M. Abolition of hypertension-induced end-organ damage by androgen receptor blockade in transgenic rats harboring the mouse ren-2 gene. J Am Soc Nephrol. 2002;13:2681-7 pubmed..Our results indicate that androgens contribute not only to the development of hypertension, but even more importantly to end-organ damage in TGR(mREN2)27 rats. ..
- Kirch H, Ruschen S, Brockmann D, Esche H, Horikawa I, Barrett J, et al. Tumor-specific activation of hTERT-derived promoters by tumor suppressive E1A-mutants involves recruitment of p300/CBP/HAT and suppression of HDAC-1 and defines a combined tumor targeting and suppression system. Oncogene. 2002;21:7991-8000 pubmed..Overall, hTERT promoter/E1A-Spm2 systems may turn out to be excellent tools for transcriptionally targeted anticancer gene therapy. ..
- Elsalini O, Rohr K. Phenylthiourea disrupts thyroid function in developing zebrafish. Dev Genes Evol. 2003;212:593-8 pubmed..At doses of 0.003% PTurea, however, toxic side effects seem to be at a minimum, and the maternal contribution of the hormone might compensate for compromised thyroid function during the first days of development. ..
- Ogierman M, Braun V. Interactions between the outer membrane ferric citrate transporter FecA and TonB: studies of the FecA TonB box. J Bacteriol. 2003;185:1870-85 pubmed..Demonstrated here for the first time is the physical interaction of TonB and FecA, which is enhanced by ferric citrate. ..
- Bruvo R, Michiels N, D Souza T, Schulenburg H. A simple method for the calculation of microsatellite genotype distances irrespective of ploidy level. Mol Ecol. 2004;13:2101-6 pubmed..An illustration is given using data from the planarian flatworm Schmidtea polychroa (Platyhelminthes). ..