Genomes and Genes
Experts and Doctors on mutation in Germany
Publications303 found, 100 shown here
- Ege M, Ma Y, Manfras B, Kalwak K, Lu H, Lieber M, et al. Omenn syndrome due to ARTEMIS mutations. Blood. 2005;105:4179-86 pubmed
- Todt I, Hennies H, Basta D, Ernst A. Vestibular dysfunction of patients with mutations of Connexin 26. Neuroreport. 2005;16:1179-81 pubmed..Thus, connexin 26 mutations can be associated with saccular defects of the vestibular receptors. ..
- Gedicke M, Traupe H, Fischer B, Tinschert S, Hennies H. Towards characterization of palmoplantar keratoderma caused by gain-of-function mutation in loricrin: analysis of a family and review of the literature. Br J Dermatol. 2006;154:167-71 pubmed..This revealed an equal expression of mutant and wild-type alleles of LOR in an affected individual. These findings further underline the gain-of-function theory for mutant LOR in loricrin keratoderma. ..
- Disch S, Anastasiou E, Sharma V, Laux T, Fletcher J, Lenhard M. The E3 ubiquitin ligase BIG BROTHER controls arabidopsis organ size in a dosage-dependent manner. Curr Biol. 2006;16:272-9 pubmed..Our data indicate that plants limit the duration of organ growth and ultimately organ size by actively degrading critical growth stimulators. ..
- Urig S, Lieske J, Fritz Wolf K, Irmler A, Becker K. Truncated mutants of human thioredoxin reductase 1 do not exhibit glutathione reductase activity. FEBS Lett. 2006;580:3595-600 pubmed..Furthermore, we show that GSSG binding at the N-terminal active site of TrxR is electrostatically disfavoured. ..
- To T, Hahner S, Nica G, Rohr K, Hammerschmidt M, Winkler C, et al. Pituitary-interrenal interaction in zebrafish interrenal organ development. Mol Endocrinol. 2007;21:472-85 pubmed..These data demonstrate a gradual transition from early pituitary-independent interrenal organogenesis to developmental control by the anterior domain of pituitary corticotrophs acting via Mc2 receptors...
- Textor S, de Kraker J, Hause B, Gershenzon J, Tokuhisa J. MAM3 catalyzes the formation of all aliphatic glucosinolate chain lengths in Arabidopsis. Plant Physiol. 2007;144:60-71 pubmed..The localization of MAM3 in the chloroplast suggests that this organelle is the site of Met chain elongation. ..
- Moller J, Rissling I, Mylius V, Höft C, Eggert K, Oertel W. The prevalence of the G2019S and R1441C/G/H mutations in LRRK2 in German patients with Parkinson's disease. Eur J Neurol. 2008;15:743-5 pubmed publisher..In contrast to previous reports, the G2019S mutation was also observed in apparently sporadic German LOPD patients. ..
- Ahting U, Floss T, Uez N, Schneider Lohmar I, Becker L, Kling E, et al. Neurological phenotype and reduced lifespan in heterozygous Tim23 knockout mice, the first mouse model of defective mitochondrial import. Biochim Biophys Acta. 2009;1787:371-6 pubmed publisher..Haploinsufficiency of the Tim23 mutation underlines the critical role of the mitochondrial import machinery for maintaining mitochondrial function...
- Zaucke F, Boehnlein J, Steffens S, Polishchuk R, Rampoldi L, Fischer A, et al. Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression. Hum Mol Genet. 2010;19:1985-97 pubmed publisher..Our data add UMOD to the group of proteins expressed in primary cilia, where mutations of the gene lead to cystic kidney disease. ..
- Böhme S, Meyer S, Krüger A, Steinhoff H, Wittinghofer A, Klare J. Stabilization of G domain conformations in the tRNA-modifying MnmE-GidA complex observed with double electron electron resonance spectroscopy. J Biol Chem. 2010;285:16991-7000 pubmed publisher..Surprisingly, GidA binding influences not only the GTP- but also the GDP-bound conformation. Thus GidA is a new type of regulator for a G protein activated by dimerization. ..
- Kuntz E, Yusenko M, Nagy A, Kovacs G. Oligoarray comparative genomic hybridization of renal cell tumors that developed in patients with acquired cystic renal disease. Hum Pathol. 2010;41:1345-9 pubmed publisher..We suggest that not only the morphology but also the genetics of renal cell tumors associated with acquired cystic renal disease may differ from those occurring in the general population. ..
- Klassen R, Wemhoff S, Krause J, Meinhardt F. DNA repair defects sensitize cells to anticodon nuclease yeast killer toxins. Mol Genet Genomics. 2011;285:185-95 pubmed publisher..The obtained genetic evidence promises to reveal new aspects into the mechanism linking translational fidelity and genome surveillance. ..
- Appelhagen I, Lu G, Huep G, Schmelzer E, Weisshaar B, Sagasser M. TRANSPARENT TESTA1 interacts with R2R3-MYB factors and affects early and late steps of flavonoid biosynthesis in the endothelium of Arabidopsis thaliana seeds. Plant J. 2011;67:406-19 pubmed publisher..thaliana seed development. ..
- Rozenknop A, Rogov V, Rogova N, Lohr F, Güntert P, Dikic I, et al. Characterization of the interaction of GABARAPL-1 with the LIR motif of NBR1. J Mol Biol. 2011;410:477-87 pubmed publisher..This indicates that different LIRs can interact with autophagy modifiers with unique binding properties. ..
- Schwarz K, Natarajan S, Kassas N, Vitale N, Schmitz F. The synaptic ribbon is a site of phosphatidic acid generation in ribbon synapses. J Neurosci. 2011;31:15996-6011 pubmed publisher..We propose that PA generated at synaptic ribbons likely facilitates synaptic vesicle trafficking. ..
- Jahn D, Schramm S, Schnolzer M, Heilmann C, de Koster C, Schütz W, et al. A truncated lamin A in the Lmna -/- mouse line: implications for the understanding of laminopathies. Nucleus. 2012;3:463-74 pubmed publisher..Based on our findings we discuss implications for the interpretation of previous studies using Lmna (-/-) mice and the concept of human laminopathies. ..
- Peddibhotla S, Brinkmann B, Kummer D, Tuncay H, Nakayama M, Adams R, et al. Tetraspanin CD9 links junctional adhesion molecule-A to ?v?3 integrin to mediate basic fibroblast growth factor-specific angiogenic signaling. Mol Biol Cell. 2013;24:933-44 pubmed publisher..The data also provide new mechanistic insights into the cooperativity between bFGF and ?v?3 integrin during angiogenic signaling. ..
- Stockler S, Isbrandt D, Hanefeld F, Schmidt B, Von Figura K. Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man. Am J Hum Genet. 1996;58:914-22 pubmed..Deficiency of GAMT is the first inborn error of creatine metabolism. It causes a severe developmental delay and extrapyramidal symptoms in early infancy and is treatable by oral substitution with creatine. ..
- Gentzsch M, Tanner W. The PMT gene family: protein O-glycosylation in Saccharomyces cerevisiae is vital. EMBO J. 1996;15:5752-9 pubmed..The results show that protein O-glycosylation is essential for cell wall rigidity and cell integrity and that this protein modification, therefore, is vital for Saccharomyces cerevisiae. ..
- Niewöhner J, Weber I, Maniak M, Müller Taubenberger A, Gerisch G. Talin-null cells of Dictyostelium are strongly defective in adhesion to particle and substrate surfaces and slightly impaired in cytokinesis. J Cell Biol. 1997;138:349-61 pubmed..With their high proportion of binucleated cells, the talin-null mutants revealed interactions of the mitotic apparatus with the cell cortex that were not obvious in mononucleated cells. ..
- Bartsch J, Mukai H, Takahashi N, Ronsiek M, Fuchs S, Jockusch H, et al. The protein kinase N (PKN) gene PRKCL1/Prkcl1 maps to human chromosome 19p12-p13.1 and mouse chromosome 8 with close linkage to the myodystrophy (myd) mutation. Genomics. 1998;49:129-32 pubmed..This region of mouse Chr 8 shows a scrambled syntenic conservation to human chromosomes 4q, 8p, and 19p. As the mouse mutation myodystrophy myd has been mapped to the same region, Prkcl1 is a candidate gene for myd. ..
- Schmitz G, Kaminski W, Porsch Ozcurumez M, Klucken J, Orso E, Bodzioch M, et al. ATP-binding cassette transporter A1 (ABCA1) in macrophages: a dual function in inflammation and lipid metabolism?. Pathobiology. 1999;67:236-40 pubmed..Our results indicate a dual regulatory function for ABCA1 in macrophage lipid metabolism and inflammation...
- Vonck J. Structure of the bacteriorhodopsin mutant F219L N intermediate revealed by electron crystallography. EMBO J. 2000;19:2152-60 pubmed..This explains photocooperative phenomena in the purple membrane. ..
- Kuppers R, Sousa A, Baur A, Strickler J, Rajewsky K, Hansmann M. Common germinal-center B-cell origin of the malignant cells in two composite lymphomas, involving classical Hodgkin's disease and either follicular lymphoma or B-CLL. Mol Med. 2001;7:285-92 pubmed
- Borrmann L, Seebeck B, Rogalla P, Bullerdiek J. Human HMGA2 promoter is coregulated by a polymorphic dinucleotide (TC)-repeat. Oncogene. 2003;22:756-60 pubmed
- Kraiczy P, Hellwage J, Skerka C, Becker H, Kirschfink M, Simon M, et al. Complement resistance of Borrelia burgdorferi correlates with the expression of BbCRASP-1, a novel linear plasmid-encoded surface protein that interacts with human factor H and FHL-1 and is unrelated to Erp proteins. J Biol Chem. 2004;279:2421-9 pubmed..is the key molecule of the complement resistance of spirochetes, and (iii). is distinct from the Erp protein family. Thus, BbCRASP-1 most likely contributes to persistence of B. burgdorferi and to pathogenesis of Lyme disease. ..
- Krepulat F, Löhler J, Heinlein C, Hermannstädter A, Tolstonog G, Deppert W. Epigenetic mechanisms affect mutant p53 transgene expression in WAP-mutp53 transgenic mice. Oncogene. 2005;24:4645-59 pubmed..Mutp53 expression in this system thus resembles the situation in many human tumors, where one can observe a heterogeneous expression of mutp53, despite a homogeneous distribution of the p53 mutation in the tumor cells. ..
- Haendeler J, Popp R, Goy C, Tischler V, Zeiher A, Dimmeler S. Cathepsin D and H2O2 stimulate degradation of thioredoxin-1: implication for endothelial cell apoptosis. J Biol Chem. 2005;280:42945-51 pubmed..Taken together, CatD induces apoptosis via degradation of Trx protein, which is an essential anti-apoptotic and reactive oxygen species scavenging protein in endothelial cells. ..
- Hormozian F, Schmitt J, Sagulenko E, Schwab M, Savelyeva L. FRA1E common fragile site breaks map within a 370kilobase pair region and disrupt the dihydropyrimidine dehydrogenase gene (DPYD). Cancer Lett. 2007;246:82-91 pubmed
- Fiegna F, Yu Y, Kadam S, Velicer G. Evolution of an obligate social cheater to a superior cooperator. Nature. 2006;441:310-4 pubmed..Thus, a temporary state of obligate cheating served as an evolutionary stepping-stone to a novel state of autonomous social dominance...
- Tang Y, Chang H, Roeben A, Wischnewski D, Wischnewski N, Kerner M, et al. Structural features of the GroEL-GroES nano-cage required for rapid folding of encapsulated protein. Cell. 2006;125:903-14 pubmed..We suggest that by combining these features, the chaperonin cage provides a physical environment optimized to catalyze the structural annealing of proteins with kinetically complex folding pathways. ..
- Eisenhut M, Kahlon S, Hasse D, Ewald R, Lieman Hurwitz J, Ogawa T, et al. The plant-like C2 glycolate cycle and the bacterial-like glycerate pathway cooperate in phosphoglycolate metabolism in cyanobacteria. Plant Physiol. 2006;142:333-42 pubmed..This finding and the growth data imply a dominant, although not exclusive, role of the C2 route in cyanobacterial phosphoglycolate metabolism. ..
- Wangorsch A, Ballmer Weber B, Rosch P, Holzhauser T, Vieths S. Mutational epitope analysis and cross-reactivity of two isoforms of Api g 1, the major celery allergen. Mol Immunol. 2007;44:2518-27 pubmed..02. Understanding and investigation of the molecular mechanisms in celery allergy is an important step to generate hypoallergenic proteins for safe and efficacious immunotherapy of food allergy. ..
- Mian A, Schull M, Zhao Z, Oancea C, Hundertmark A, Beissert T, et al. The gatekeeper mutation T315I confers resistance against small molecules by increasing or restoring the ABL-kinase activity accompanied by aberrant transphosphorylation of endogenous BCR, even in loss-of-function mutants of BCR/ABL. Leukemia. 2009;23:1614-21 pubmed publisher..These data show that T315I confers additional leukemogenic activity to BCR/ABL, which might explain the clinical behavior of patients with BCR/ABL-T315I-positive blasts. ..
- Kochs G, Mart nez Sobrido L, Lienenklaus S, Weiss S, Garc a Sastre A, Staeheli P. Strong interferon-inducing capacity of a highly virulent variant of influenza A virus strain PR8 with deletions in the NS1 gene. J Gen Virol. 2009;90:2990-4 pubmed publisher..As the new NS1 mutants can be handled in standard biosafety laboratories, they represent convenient novel tools for studying virus-induced IFN expression in vivo...
- Panico E, Ede C, Schildmann M, Schürer K, Kramer W. Genetic evidence for a role of Saccharomyces cerevisiae Mph1 in recombinational DNA repair under replicative stress. Yeast. 2010;27:11-27 pubmed publisher..Overall, our results support a role of Mph1 in assisting replication progression. We propose two models for the resumption of DNA synthesis under replicative stress where Mph1 is placed at the sister chromatid interaction step. ..
- Büttner N, Johnsen S, Kügler S, Vogel T. Af9/Mllt3 interferes with Tbr1 expression through epigenetic modification of histone H3K79 during development of the cerebral cortex. Proc Natl Acad Sci U S A. 2010;107:7042-7 pubmed publisher..Thus, this study identified AF9 as a developmental active epigenetic modifier during the generation of cortical projection neurons. ..
- Zwilling J, Sliva K, Schwantes A, Schnierle B, Sutter G. Functional F11L and K1L genes in modified vaccinia virus Ankara restore virus-induced cell motility but not growth in human and murine cells. Virology. 2010;404:231-9 pubmed publisher..Additional insertion of the K1L gene, which restores MVA replication in RK-13 cells, was not sufficient to extend MVA growth capacity to other mammalian cells...
- Kümmerle Deschner J, Tyrrell P, Reess F, Kotter I, Lohse P, Girschick H, et al. Risk factors for severe Muckle-Wells syndrome. Arthritis Rheum. 2010;62:3783-91 pubmed publisher..MWS patients at high risk for severe disease can be identified at the time of diagnosis. Female patients presenting with hearing loss have the highest likelihood of manifesting severe MWS and should be considered a high-risk group. ..
- Krappmann K, Weikard R, Gerst S, Wolf C, Kuhn C. A genetic predisposition for bovine neonatal pancytopenia is not due to mutations in coagulation factor XI. Vet J. 2011;190:225-9 pubmed publisher..0001) accumulation of BNP cases in the specific pedigree examined, suggesting that a genetic component is involved in the development of BNP. ..
- Moosmann N, von Weikersthal L, Vehling Kaiser U, Stauch M, Hass H, Dietzfelbinger H, et al. Cetuximab plus capecitabine and irinotecan compared with cetuximab plus capecitabine and oxaliplatin as first-line treatment for patients with metastatic colorectal cancer: AIO KRK-0104--a randomized trial of the German AIO CRC study group. J Clin Oncol. 2011;29:1050-8 pubmed publisher..This randomized trial demonstrates that the addition of cetuximab to CAPIRI or CAPOX is effective and safe in first-line treatment of mCRC. In the analyzed regimens, ORR and PFS did not differ according to KRAS gene mutation status. ..
- Uhmann A, Niemann H, Lammering B, Henkel C, Hess I, Nitzki F, et al. Antitumoral effects of calcitriol in basal cell carcinomas involve inhibition of hedgehog signaling and induction of vitamin D receptor signaling and differentiation. Mol Cancer Ther. 2011;10:2179-88 pubmed publisher..These data suggest that calcitriol could be a therapeutic option in the treatment of BCC, the most common tumor in humans. ..
- Neu U, Hengel H, Blaum B, Schowalter R, Macejak D, Gilbert M, et al. Structures of Merkel cell polyomavirus VP1 complexes define a sialic acid binding site required for infection. PLoS Pathog. 2012;8:e1002738 pubmed publisher..Since cell-surface glycans typically serve as primary attachment receptors for many viruses, we identify here a new role for glycans in mediating, and perhaps even modulating, post-attachment entry processes...
- Frémont N, Riefler M, Stolz A, Schmülling T. The Arabidopsis TUMOR PRONE5 gene encodes an acetylornithine aminotransferase required for arginine biosynthesis and root meristem maintenance in blue light. Plant Physiol. 2013;161:1127-40 pubmed publisher..The inhibitory activity was specific for blue light, and the inhibiting light was perceived by the root. Thus, tup5-1 reveals a novel role of amino acids and blue light in regulating root meristem function...
- Gisch N, Kohler T, Ulmer A, Muthing J, Pribyl T, Fischer K, et al. Structural reevaluation of Streptococcus pneumoniae Lipoteichoic acid and new insights into its immunostimulatory potency. J Biol Chem. 2013;288:15654-67 pubmed publisher..aureus LTA. Taken together, our study refines the structure of pnLTA and indicates that pneumococcal and S. aureus LTAs differ not only in their structure but also in their bioactivity...
- Kanwischer M, Porfirova S, Bergmuller E, Dormann P. Alterations in tocopherol cyclase activity in transgenic and mutant plants of Arabidopsis affect tocopherol content, tocopherol composition, and oxidative stress. Plant Physiol. 2005;137:713-23 pubmed
- Schneider H, Westermann B, Neupert W, Brunner M. The nucleotide exchange factor MGE exerts a key function in the ATP-dependent cycle of mt-Hsp70-Tim44 interaction driving mitochondrial protein import. EMBO J. 1996;15:5796-803 pubmed..Subsequently, the release of mt-Hsp70 from the polypeptide chain is triggered by Mge1p which promotes release of ADP from mt-Hsp70. Rebinding of ATP to mt-Hsp70 completes the reaction cycle. ..
- Jaeger V, Hoppe S, Petermann P, Liebig T, Jansen M, Renn T, et al. Herpes simplex virus type 1 entry into epithelial MDCKII cells: role of VASP activities. J Gen Virol. 2010;91:2152-7 pubmed publisher..We conclude that VASP activities alone may contribute to herpes simplex virus infection to only a minor extent...
- Heumann R, Goemans C, Bartsch D, Lingenhöhl K, Waldmeier P, Hengerer B, et al. Transgenic activation of Ras in neurons promotes hypertrophy and protects from lesion-induced degeneration. J Cell Biol. 2000;151:1537-48 pubmed..Neuronal Ras activation might become a tool to stabilize donor neurons for neural transplantation and to protect neuronal populations in neurodegenerative diseases. ..
- Stegmann K, Boecker J, Kosan C, Ermert A, Kunz J, Koch M. Human transcription factor SLUG: mutation analysis in patients with neural tube defects and identification of a missense mutation (D119E) in the Slug subfamily-defining region. Mutat Res. 1999;406:63-9 pubmed..In accordance with the findings in model organisms, the SLUG mutation may be causally related to the development of NTD in our patient and could be considered as a predisposing factor. ..
- Kreuzer O, Krisch B, Dery O, Bunnett N, Meyerhof W. Agonist-mediated endocytosis of rat somatostatin receptor subtype 3 involves beta-arrestin and clathrin coated vesicles. J Neuroendocrinol. 2001;13:279-87 pubmed..Thus, agonist-induced endocytosis of sst3 depends on its interaction with beta-arrestin, involves the adaptor protein complex 2 and proceeds via clathrin coated vesicles to the recycling compartment...
- Markoff A, Bogdanova N, Uhlig C, Groppe M, Horst J, Kennerknecht I. A novel TACSTD2 gene mutation in a Turkish family with a gelatinous drop-like corneal dystrophy. Mol Vis. 2006;12:1473-6 pubmed
- Lerche H, Jurkat Rott K, Lehmann Horn F. Ion channels and epilepsy. Am J Med Genet. 2001;106:146-59 pubmed..On the basis of genetic and electrophysiologic studies of the channelopathies, novel therapeutic strategies can be developed, as has been shown recently for the antiepileptic drug retigabine activating neuronal KCNQ potassium channels...
- Schmitt E, Bunse A, Janus D, Hoff B, Friedlin E, Kürnsteiner H, et al. Winged helix transcription factor CPCR1 is involved in regulation of beta-lactam biosynthesis in the fungus Acremonium chrysogenum. Eukaryot Cell. 2004;3:121-34 pubmed..However, the complexity of the data points to a well-controlled or even functional redundant network of transcription factors, with CPCR1 being only one player within this process...
- Allmendinger O, Trautmann K, Mittelbronn M, Waidelich J, Meyermann R, Tatagiba M, et al. Activated leukocyte cell adhesion molecule is expressed in neuroepithelial neoplasms and decreases with tumor malignancy, matrix metalloproteinase 2 expression, and absence of IDH1R132H mutation. Hum Pathol. 2012;43:1289-99 pubmed publisher..In summary, our findings indicate that activated leukocyte adhesion molecule expression levels in gliomas are probably linked to other mechanisms than its supposed role as regulator of matrix metalloproteinase 2. ..
- Sandbaumh ter M, D hner K, Schipke J, Binz A, Pohlmann A, Sodeik B, et al. Cytosolic herpes simplex virus capsids not only require binding inner tegument protein pUL36 but also pUL37 for active transport prior to secondary envelopment. Cell Microbiol. 2013;15:248-69 pubmed publisher..Efficient capsid transport to the organelle of secondary envelopment requires recruitment ofpUL37 onto capsids, most likely via its interaction with pUL36, while capsid-associated pUL36 alone is insufficient...
- Wang Y, Marion Schneider E, Li X, Duttenhöfer I, Debatin K, Hug H. HIPK2 associates with RanBPM. Biochem Biophys Res Commun. 2002;297:148-53 pubmed..Overexpressed wildtype RanBPM and a kinase defective mutant of HIPK2 co-localise with HIPK2 in defined nuclear structures. A carboxy- and an amino-terminal deletion of HIPK2 do not seem to be able to bind to RanBPM. ..
- Rajan S, Preisig Müller R, Wischmeyer E, Nehring R, Hanley P, Renigunta V, et al. Interaction with 14-3-3 proteins promotes functional expression of the potassium channels TASK-1 and TASK-3. J Physiol. 2002;545:13-26 pubmed..Our findings suggest that interaction of 14-3-3 with TASK-1 or TASK-3 may promote the trafficking of the channels to the surface membrane. ..
- Fufezan C, Simionato D, Morosinotto T. Identification of key residues for pH dependent activation of violaxanthin de-epoxidase from Arabidopsis thaliana. PLoS ONE. 2012;7:e35669 pubmed publisher..These results suggest that VDE activation relies on a robust and redundant network, in which the four residues identified in this study play a major role. ..
- Maichele A, Burwinkel B, Maire I, Søvik O, Kilimann M. Mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans. Nat Genet. 1996;14:337-40 pubmed..The findings suggest that the PHKG2 gene product is the predominant isoform of the catalytic gamma subunit of Phk not only in testis but also in liver, erythrocytes and, possibly, other non-muscle tissues. ..
- Jeckel S, Loetzsch E, Huber E, Stubenrauch F, Iftner T. Identification of the E9/E2C cDNA and functional characterization of the gene product reveal a new repressor of transcription and replication in cottontail rabbit papillomavirus. J Virol. 2003;77:8736-44 pubmed..When we infected New Zealand White rabbits with these constructs, we surprisingly noted no differences in tumor induction efficiency, viral genome copy number, and viral transcription in comparison to wild-type CRPV...
- Hoischen C, Bolshoy A, Gerdes K, Diekmann S. Centromere parC of plasmid R1 is curved. Nucleic Acids Res. 2004;32:5907-15 pubmed..Since the centromere sequence of an E.coli plasmid as well as eukaryotic centromere sequences show DNA curvature, we speculate that curvature might be a general property of centromeres. ..
- Otten C, Hansen U, Talke A, Wagener R, Paulsson M, Zaucke F. A matrilin-3 mutation associated with osteoarthritis does not affect collagen affinity but promotes the formation of wider cartilage collagen fibrils. Hum Mutat. 2010;31:254-63 pubmed publisher..These changes do not affect the affinity for collagens II, IX, XI, or COMP, but have a major impact on the in vitro fibrillogenesis of collagen II/IX/XI heterofibrils. ..
- Stojanovic T, Scheele L, Wagner A, Middel P, Bedke J, Lautenschlager I, et al. STAT-1 decoy oligonucleotide improves microcirculation and reduces acute rejection in allogeneic rat small bowel transplants. Gene Ther. 2007;14:883-90 pubmed..STAT-1 dODN blockade of CD40 expression improves mucosal perfusion, reduces graft rejection, T-cell infiltration and apoptosis in rat small bowel allografts during acute rejection. ..
- Eggermann T. Russell-Silver syndrome. Am J Med Genet C Semin Med Genet. 2010;154C:355-64 pubmed publisher..Furthermore, the pathophysiological mechanisms resulting in the RSS phenotype still remain unknown despite the recent progress in deciphering the molecular defects associated with this condition...
- Schmitt Ney M, Thiele H, Kaltwasser P, Bardoni B, Cisternino M, Scherer G. Two novel SRY missense mutations reducing DNA binding identified in XY females and their mosaic fathers. Am J Hum Genet. 1995;56:862-9 pubmed..The fact that both fathers transmitted the mutant SRY copy to their offspring implies that they are mosaic for the SRY gene in testis as well as in blood, as a result of a mutation during early embryonic development. ..
- Zobiack N, Rescher U, Ludwig C, Zeuschner D, Gerke V. The annexin 2/S100A10 complex controls the distribution of transferrin receptor-containing recycling endosomes. Mol Biol Cell. 2003;14:4896-908 pubmed
- Becker A, Zeppenfeld T, Staab A, Seitz S, Boos W, Morita T, et al. YeeI, a novel protein involved in modulation of the activity of the glucose-phosphotransferase system in Escherichia coli K-12. J Bacteriol. 2006;188:5439-49 pubmed..By measuring the surface plasmon resonance, we found that YeeI (proposed gene designation, mtfA) directly interacts with Mlc with high affinity. ..
- Much B, Wahl Schott C, Zong X, Schneider A, Baumann L, Moosmang S, et al. Role of subunit heteromerization and N-linked glycosylation in the formation of functional hyperpolarization-activated cyclic nucleotide-gated channels. J Biol Chem. 2003;278:43781-6 pubmed..Taken together our results indicate that subunit heteromerization and glycosylation are important determinants of the formation of native HCN channels. ..
- Seibold G, Dempf S, Schreiner J, Eikmanns B. Glycogen formation in Corynebacterium glutamicum and role of ADP-glucose pyrophosphorylase. Microbiology. 2007;153:1275-85 pubmed..glutamicum and that ADP-Glc pyrophosphorylase activity might be advantageous for fast adaptation of C. glutamicum to hyperosmotic stress. ..
- Ragni E, Piberger H, Neupert C, García Cantalejo J, Popolo L, Arroyo J, et al. The genetic interaction network of CCW12, a Saccharomyces cerevisiae gene required for cell wall integrity during budding and formation of mating projections. BMC Genomics. 2011;12:107 pubmed publisher..The microarray data produced in this analysis have been submitted to NCBI GEO database and GSE22649 record was assigned. ..
- Steck T, Giess R, Suetterlin M, Bolland M, Wiest S, Poehls U, et al. Leukaemia inhibitory factor (LIF) gene mutations in women with unexplained infertility and recurrent failure of implantation after IVF and embryo transfer. Eur J Obstet Gynecol Reprod Biol. 2004;112:69-73 pubmed..However, routine screening for LIF mutations or polymorphisms in these women is not justified for the low prevalence of gene alterations. ..
- Santos K, Jovin S, Weber G, Pena V, Luhrmann R, Wahl M. Structural basis for functional cooperation between tandem helicase cassettes in Brr2-mediated remodeling of the spliceosome. Proc Natl Acad Sci U S A. 2012;109:17418-23 pubmed publisher..Together, our results reveal the structural and functional interplay between two helicase cassettes in a tandem superfamily 2 enzyme and point to several sites through which Brr2 activity may be regulated. ..
- Lockhart P, Steel M, Larkum A. Gene duplication and the evolution of photosynthetic reaction center proteins. FEBS Lett. 1996;385:193-6 pubmed
- Ebermann I, Wilke R, Lauhoff T, Lübben D, Zrenner E, Bolz H. Two truncating USH3A mutations, including one novel, in a German family with Usher syndrome. Mol Vis. 2007;13:1539-47 pubmed..This is the first description of a German family with USH due to USH3A mutations, including one novel. Our findings indicate that also in the Central European population, USH3A mutations should be considered in cases of USH. ..
- Beck J, Vogel M, Nassal M. dNTP versus NTP discrimination by phenylalanine 451 in duck hepatitis B virus P protein indicates a common structure of the dNTP-binding pocket with other reverse transcriptases. Nucleic Acids Res. 2002;30:1679-87 pubmed..Because the function of the discriminatory residue depends on its specific spatial disposition this strongly suggests a similar architecture for the P protein dNTP-binding pocket as in other RTs. ..
- Gieselmann V, Zlotogora J, Harris A, Wenger D, Morris C. Molecular genetics of metachromatic leukodystrophy. Hum Mutat. 1994;4:233-42 pubmed..So far only six patients with mutations in the prosaposin gene have been described, in which three defective alleles two with amino acid substitutions and one with a 33-bp insertion have been identified. ..
- Strom T, Hortnagel K, Hofmann S, Gekeler F, Scharfe C, Rabl W, et al. Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein. Hum Mol Genet. 1998;7:2021-8 pubmed
- Reintanz B, Lehnen M, Reichelt M, Gershenzon J, Kowalczyk M, Sandberg G, et al. Bus, a bushy Arabidopsis CYP79F1 knockout mutant with abolished synthesis of short-chain aliphatic glucosinolates. Plant Cell. 2001;13:351-67 pubmed..Our results demonstrate for the first time that the formation of glucosinolates derived from methionine is mediated by CYP79F1 and that knocking out this cytochrome P450 has profound effects on plant growth and development. ..
- Freiberg C, Brunner N, Schiffer G, Lampe T, Pohlmann J, Brands M, et al. Identification and characterization of the first class of potent bacterial acetyl-CoA carboxylase inhibitors with antibacterial activity. J Biol Chem. 2004;279:26066-73 pubmed
- Jazwinska A, Rushlow C, Roth S. The role of brinker in mediating the graded response to Dpp in early Drosophila embryos. Development. 1999;126:3323-34 pubmed..Here, both brk and sog antagonize the antineurogenic activity of Dpp so that only in brk sog double mutants is the neuroectoderm completely deleted. ..
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