Genomes and Genes
Experts and Doctors on mutation in United Kingdom
Locale: United Kingdom
Publications790 found, 100 shown here
- Hurdle J, O Neill A, Ingham E, Fishwick C, Chopra I. Analysis of mupirocin resistance and fitness in Staphylococcus aureus by molecular genetic and structural modeling techniques. Antimicrob Agents Chemother. 2004;48:4366-76 pubmed..Structural explanations for mupirocin resistance and loss of fitness were obtained by molecular modeling of mutated IRS enzymes, which provided data on mupirocin binding and interaction with the isoleucyl-AMP reactive intermediate. ..
- Partridge L, Gems D, Withers D. Sex and death: what is the connection?. Cell. 2005;120:461-72 pubmed..Understanding the molecular basis of the cost of reproduction will be informed by elucidation of the mechanisms by which DR and IIS affect these two traits. ..
- Maxwell P. A common pathway for genetic events leading to pheochromocytoma. Cancer Cell. 2005;8:91-3 pubmed..These different genetic lesions may all act by decreasing the activity of a 2-oxoglutarate-dependent oxygenase, SM-20/EglN3/PHD3, resulting in reduced apoptosis of neural crest cells during development. ..
- Peiter E, Montanini B, Gobert A, Pedas P, Husted S, Maathuis F, et al. A secretory pathway-localized cation diffusion facilitator confers plant manganese tolerance. Proc Natl Acad Sci U S A. 2007;104:8532-7 pubmed publisher..In accord with this proposal, Arabidopsis mtp11 mutants exhibit enhanced manganese concentrations in shoots and roots. We propose that Golgi-mediated exocytosis comprises a conserved mechanism for heavy metal tolerance in plants...
- Banerji U, Affolter A, Judson I, Marais R, Workman P. BRAF and NRAS mutations in melanoma: potential relationships to clinical response to HSP90 inhibitors. Mol Cancer Ther. 2008;7:737-9 pubmed publisher..These preliminary results suggest that BRAF and NRAS mutation status should be determined in prospective phase II studies of HSP90 inhibitors in melanoma. ..
- Petersen H, Keane C, Jenkinson H, Vickerman M, Jesionowski A, Waterhouse J, et al. Human platelets recognize a novel surface protein, PadA, on Streptococcus gordonii through a unique interaction involving fibrinogen receptor GPIIbIIIa. Infect Immun. 2010;78:413-22 pubmed publisher..These results highlight the growing complexity of interactions between S. gordonii and platelets and demonstrate a new mechanism by which the bacterium could contribute to unwanted thrombosis. ..
- Lawson A, Walker E, Lavery G, Bujalska I, Hughes B, Arlt W, et al. Cortisone-reductase deficiency associated with heterozygous mutations in 11beta-hydroxysteroid dehydrogenase type 1. Proc Natl Acad Sci U S A. 2011;108:4111-6 pubmed publisher..Thus, these heterozygous mutations in the HSD11B1 gene have a dominant negative effect on the formation of functional dimers and explain the genetic cause of CRD in these patients. ..
- Lee K, Dekkers B, Steinbrecher T, Walsh C, Bacic A, Bentsink L, et al. Distinct cell wall architectures in seed endosperms in representatives of the Brassicaceae and Solanaceae. Plant Physiol. 2012;160:1551-66 pubmed publisher..Genetic manipulations of cell wall components present in the Arabidopsis seed endosperm demonstrate the impact of cell wall architectural changes on germination kinetics...
- Sampathkumar A, Gutierrez R, McFarlane H, Bringmann M, Lindeboom J, Emons A, et al. Patterning and lifetime of plasma membrane-localized cellulose synthase is dependent on actin organization in Arabidopsis interphase cells. Plant Physiol. 2013;162:675-88 pubmed publisher..Hence, both actin and microtubule cytoskeletons play important roles in regulating CesA trafficking, cellulose deposition, and organization of cell wall biogenesis...
- Dave A, Vaistij F, Gilday A, Penfield S, Graham I. Regulation of Arabidopsis thaliana seed dormancy and germination by 12-oxo-phytodienoic acid. J Exp Bot. 2016;67:2277-84 pubmed publisher..thaliana and underline the complexity of interactions between OPDA and other dormancy-promoting factors such as abscisic acid, RGL2, and MFT. ..
- Edwards J, Swales L, Bate M. The differentiation between neuroglia and connective tissue sheath in insect ganglia revisited: the neural lamella and perineurial sheath cells are absent in a mesodermless mutant of Drosophila. J Comp Neurol. 1993;333:301-8 pubmed..We propose that the cell mass is permeable to lanthanum ions and fails to form a blood-brain barrier because volume growth prevents the formation of continuous surface cell layers. ..
- Maguire B, Wild D. Mutations in the rpmBG operon of Escherichia coli that affect ribosome assembly. J Bacteriol. 1997;179:2486-93 pubmed..The results suggest that protein L33, in contrast to protein L28, has at best a minor role in ribosome assembly and function. ..
- Butler P, McIntyre N, Mistry P. Molecular diagnosis of Wilson disease. Mol Genet Metab. 2001;72:223-30 pubmed..Genetic diagnosis is feasible for WD. Greater application of molecular diagnosis should enable an appreciation of the full spectrum of WD phenotype that is not possible with currently available diagnostic criteria. ..
- Wisniewski Dyé F, Jones J, Chhabra S, Downie J. raiIR genes are part of a quorum-sensing network controlled by cinI and cinR in Rhizobium leguminosarum. J Bacteriol. 2002;184:1597-606 pubmed..Thus, the raiIR and cinIR genes are part of a complex regulatory network that influences AHL biosynthesis in R. leguminosarum...
- Teli T, Markovic D, Levine M, Hillhouse E, Grammatopoulos D. Regulation of corticotropin-releasing hormone receptor type 1alpha signaling: structural determinants for G protein-coupled receptor kinase-mediated phosphorylation and agonist-mediated desensitization. Mol Endocrinol. 2005;19:474-90 pubmed..Based on our identification of key amino acid(s) for GRK-dependent phosphorylation, we demonstrate the importance of the CRH-R1alpha carboxyl tail for regulation of receptor activity. ..
- Cookson S, Williams L, Miller A. Light-dark changes in cytosolic nitrate pools depend on nitrate reductase activity in Arabidopsis leaf cells. Plant Physiol. 2005;138:1097-105 pubmed..We propose that the NR-dependent changes in cytosolic nitrate provide a cellular mechanism for the diurnal changes in vacuolar nitrate storage, and the results are discussed in terms of the possible signaling role of cytosolic nitrate. ..
- Bellodi C, Kindle K, Bernassola F, Dinsdale D, Cossarizza A, Melino G, et al. Cytoplasmic function of mutant promyelocytic leukemia (PML) and PML-retinoic acid receptor-alpha. J Biol Chem. 2006;281:14465-73 pubmed..Finally, we show that the bcr3 PML-RARalpha form is predominantly cytoplasmic and accumulates in PML-CBs. Taken together, these findings reveal novel insights into the molecular mechanisms contributing to APL. ..
- Güther M, Lee S, Tetley L, Acosta Serrano A, Ferguson M. GPI-anchored proteins and free GPI glycolipids of procyclic form Trypanosoma brucei are nonessential for growth, are required for colonization of the tsetse fly, and are not the only components of the surface coat. Mol Biol Cell. 2006;17:5265-74 pubmed..While characterizing GlcNAc-PI that accumulates in the TbGPI12 mutant, we observed inositolphosphoceramides for the first time in this organism...
- Smith L, Pontes O, Searle I, Yelina N, Yousafzai F, Herr A, et al. An SNF2 protein associated with nuclear RNA silencing and the spread of a silencing signal between cells in Arabidopsis. Plant Cell. 2007;19:1507-21 pubmed..We interpret the effect of polymerase IVa and trans-acting siRNA pathway mutations in terms of a modular property of RNA silencing pathways...
- Boter M, Amigues B, Peart J, Breuer C, Kadota Y, Casais C, et al. Structural and functional analysis of SGT1 reveals that its interaction with HSP90 is required for the accumulation of Rx, an R protein involved in plant immunity. Plant Cell. 2007;19:3791-804 pubmed..Biochemical reconstitution experiments suggest that RAR1 may function to enhance the SGT1-HSP90 interaction by promoting ternary complex formation. ..
- Krachler A, Sharma A, Kleanthous C. Self-association of TPR domains: Lessons learned from a designed, consensus-based TPR oligomer. Proteins. 2010;78:2131-43 pubmed publisher..Our study lays the foundations for understanding the structural basis for TPR domain self-association and how such self-association can be regulated in TPR domain-containing proteins. ..
- Kerry P, Ayllon J, Taylor M, Hass C, Lewis A, Garcia Sastre A, et al. A transient homotypic interaction model for the influenza A virus NS1 protein effector domain. PLoS ONE. 2011;6:e17946 pubmed publisher..Such a concept may be applicable to other small multifunctional proteins. ..
- McCormack S, Li D, Kim Y, Lee J, Kim S, Rapaport R, et al. Digenic Inheritance of PROKR2 and WDR11 Mutations in Pituitary Stalk Interruption Syndrome. J Clin Endocrinol Metab. 2017;102:2501-2507 pubmed publisher..In cases of hypopituitarism in which there is incomplete segregation of a monogenic genotype with the phenotype, the possibility that a second genetic locus is involved should be considered. ..
- Navaratnam S, Myles G, Strange R, Sancar A. Evidence from extended X-ray absorption fine structure and site-specific mutagenesis for zinc fingers in UvrA protein of Escherichia coli. J Biol Chem. 1989;264:16067-71 pubmed..We thus conclude that the two zinc fingers identified by sequence analysis do indeed have zinc finger structure in UvrA protein. ..
- Spender L, Cornish G, Rowland B, Kempkes B, Farrell P. Direct and indirect regulation of cytokine and cell cycle proteins by EBNA-2 during Epstein-Barr virus infection. J Virol. 2001;75:3537-46 pubmed..The results indicate that cytokines are an early target of EBNA-2 and that EBNA-2 can regulate cyclin D2 transcription in EBV-infected cells by mechanisms additional to the c-myc pathway. ..
- Wilkie S, Li Y, Deery E, Newbold R, Garibaldi D, Bateman J, et al. Identification and functional consequences of a new mutation (E155G) in the gene for GCAP1 that causes autosomal dominant cone dystrophy. Am J Hum Genet. 2001;69:471-80 pubmed..The overall effect of this would be the constitutive activation of guanylate cyclase in photoreceptors, even at the high Ca2+ concentrations of the dark-adapted state, which may explain the dominant disease phenotype. ..
- Koch O, Awomoyi A, Usen S, Jallow M, Richardson A, Hull J, et al. IFNGR1 gene promoter polymorphisms and susceptibility to cerebral malaria. J Infect Dis. 2002;185:1684-7 pubmed..Further data are needed to validate this finding, but these results are reminiscent of those for other well-established heterozygote advantages, such as that associated with hemoglobin S. ..
- Ryden P, Sugimoto Shirasu K, Smith A, Findlay K, Reiter W, McCann M. Tensile properties of Arabidopsis cell walls depend on both a xyloglucan cross-linked microfibrillar network and rhamnogalacturonan II-borate complexes. Plant Physiol. 2003;132:1033-40 pubmed..We conclude that borate-complexed rhamnogalacturonan II and galactosylated xyloglucan contribute to the tensile strength of cell walls...
- McElwee J, Schuster E, Blanc E, Thomas J, Gems D. Shared transcriptional signature in Caenorhabditis elegans Dauer larvae and long-lived daf-2 mutants implicates detoxification system in longevity assurance. J Biol Chem. 2004;279:44533-43 pubmed..By contrast, the daf-16-associated element was enriched in genes down-regulated in dauers and daf-2 mutants. Thus, particular promoter elements appear longevity-associated or aging associated. ..
- Bailey Smith K, Todd S, Southworth T, Proctor J, Moir A. The ExsA protein of Bacillus cereus is required for assembly of coat and exosporium onto the spore surface. J Bacteriol. 2005;187:3800-6 pubmed publisher..The exsA gene is extremely important for the normal assembly and anchoring of both the spore coat and exosporium layers in spores of B. cereus...
- Bosch D, Saiardi A. Arginine transcriptional response does not require inositol phosphate synthesis. J Biol Chem. 2012;287:38347-55 pubmed publisher..Our work indicates that inositol phosphates do not regulate arginine-dependent gene expression. ..
- Fawdar S, Trotter E, Li Y, Stephenson N, Hanke F, Marusiak A, et al. Targeted genetic dependency screen facilitates identification of actionable mutations in FGFR4, MAP3K9, and PAK5 in lung cancer. Proc Natl Acad Sci U S A. 2013;110:12426-31 pubmed publisher..Our study indicates that targeted genetic dependency screens will be an effective strategy to elucidate somatic variants that are essential for lung cancer cell viability. ..
- Adams M, Matthews C, Collingwood T, Tone Y, Beck Peccoz P, Chatterjee K. Genetic analysis of 29 kindreds with generalized and pituitary resistance to thyroid hormone. Identification of thirteen novel mutations in the thyroid hormone receptor beta gene. J Clin Invest. 1994;94:506-15 pubmed..These observations suggest that GRTH and PRTH are phenotypic variants of the same genetic disorder, whose clinical expression may be modulated by other non-mutation-related factors. ..
- Haynes L, Evans G, Morgan A, Burgoyne R. A direct inhibitory role for the Rab3-specific effector, Noc2, in Ca2+-regulated exocytosis in neuroendocrine cells. J Biol Chem. 2001;276:9726-32 pubmed..We propose that Noc2 may be a negative effector for Rab3A in regulated exocytosis of dense-core granules from endocrine cells. ..
- Stolz J, Munro S. The components of the Saccharomyces cerevisiae mannosyltransferase complex M-Pol I have distinct functions in mannan synthesis. J Biol Chem. 2002;277:44801-8 pubmed..Finally, we show that a simple glycoprotein based on hen egg lysozyme can be used as a substrate for modification by purified M-Pol I in vitro. ..
- Thompson D, Easton D. Cancer Incidence in BRCA1 mutation carriers. J Natl Cancer Inst. 2002;94:1358-65 pubmed..BRCA1 mutations may confer increased risks of other abdominal cancers in women and increased risks of pancreatic cancer in men and women. ..
- McMahon L, Muriel J, Roberts B, Quinn M, Johnstone I. Two sets of interacting collagens form functionally distinct substructures within a Caenorhabditis elegans extracellular matrix. Mol Biol Cell. 2003;14:1366-78 pubmed..Consistent with this hypothesis, we find for the two identified interacting sets that the individual members of each set are temporally coexpressed, whereas the two sets are expressed approximately 2 h apart during matrix synthesis. ..
- Aquilina J, Benesch J, Ding L, Yaron O, Horwitz J, Robinson C. Phosphorylation of alphaB-crystallin alters chaperone function through loss of dimeric substructure. J Biol Chem. 2004;279:28675-80 pubmed
- Patterson H, Brannigan J, Cutting S, Wilson K, Wilkinson A, Ab E, et al. The structure of bypass of forespore C, an intercompartmental signaling factor during sporulation in Bacillus. J Biol Chem. 2005;280:36214-20 pubmed..The sequence connecting the domains contains a conserved DISP motif to which mutations that affect BofC activity map. Possible roles for BofC in the sigma(K) checkpoint are discussed in the light of sequence and structure comparisons. ..
- Wootton L, Michelangeli F. The effects of the phenylalanine 256 to valine mutation on the sensitivity of sarcoplasmic/endoplasmic reticulum Ca2+ ATPase (SERCA) Ca2+ pump isoforms 1, 2, and 3 to thapsigargin and other inhibitors. J Biol Chem. 2006;281:6970-6 pubmed
- Xie X, Wang Y, Williamson L, Holroyd G, Tagliavia C, Murchie E, et al. The identification of genes involved in the stomatal response to reduced atmospheric relative humidity. Curr Biol. 2006;16:882-7 pubmed
- Fertleman C, Baker M, Parker K, Moffatt S, Elmslie F, Abrahamsen B, et al. SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes. Neuron. 2006;52:767-74 pubmed..PEPD and PE are allelic variants with distinct underlying biophysical mechanisms and represent a separate class of peripheral neuronal sodium channelopathy. ..
- Yamaoka S, Leaver C. EMB2473/MIRO1, an Arabidopsis Miro GTPase, is required for embryogenesis and influences mitochondrial morphology in pollen. Plant Cell. 2008;20:589-601 pubmed publisher..Our findings suggest that mitochondrial morphology is influenced by MIRO1 and plays a vital role during embryogenesis and pollen tube growth. ..
- Jones D, Patel A, Targett Adams P, McLauchlan J. The hepatitis C virus NS4B protein can trans-complement viral RNA replication and modulates production of infectious virus. J Virol. 2009;83:2163-77 pubmed publisher..Finally, one of the NS4B mutations increased the yield of infectious virus by five- to sixfold. Hence, NS4B not only functions in RNA replication but also contributes to the processes engaged in virus assembly and release. ..
- Blindauer C, Harvey I, Bunyan K, Stewart A, Sleep D, Harrison D, et al. Structure, properties, and engineering of the major zinc binding site on human albumin. J Biol Chem. 2009;284:23116-24 pubmed publisher..Both wild-type and mutant albumins promote the safe management of high micromolar zinc concentrations for cells in cultures. ..
- Peters S, Paterson G, Bandularatne E, Northen H, Pleasance S, Willers C, et al. Salmonella enterica serovar typhimurium trxA mutants are protective against virulent challenge and induce less inflammation than the live-attenuated vaccine strain SL3261. Infect Immun. 2010;78:326-36 pubmed publisher..We tested this by deleting trxA in SL3261. SL3261 trxA was also less inflammatory than SL3261 but was slightly less effective as a vaccine strain than either the SL3261 parent strain or SL1344 trxA...
- Oke O, Burgess S, Forgacs E, Knight P, Sakamoto T, Sellers J, et al. Influence of lever structure on myosin 5a walking. Proc Natl Acad Sci U S A. 2010;107:2509-14 pubmed publisher..Slow rates of ADP dissociation observed from lead heads of these molecules can be explained by the unfavorable equilibrium between the pre- and postpowerstroke conformations preceding ADP loss. ..
- McKeown L, Moss N, Turner P, Li J, Heath N, Burke D, et al. Platelet-derived growth factor maintains stored calcium through a nonclustering Orai1 mechanism but evokes clustering if the endoplasmic reticulum is stressed by store depletion. Circ Res. 2012;111:66-76 pubmed publisher..Redistribution and clustering become important, however, when the endoplasmic reticulum stress signal of store depletion arises, for example when acidosis inhibits Orai1 channels. ..
- Tucci A, Charlesworth G, Sheerin U, Plagnol V, Wood N, Hardy J. Study of the genetic variability in a Parkinson's Disease gene: EIF4G1. Neurosci Lett. 2012;518:19-22 pubmed publisher..Our data also suggests that the protein can tolerate some extent of variability particularly at this point of the gene. ..
- Arbely E, Torres Kolbus J, Deiters A, Chin J. Photocontrol of tyrosine phosphorylation in mammalian cells via genetic encoding of photocaged tyrosine. J Am Chem Soc. 2012;134:11912-5 pubmed publisher..By photocaging Tyr701 of STAT1 we demonstrate that it is possible to photocontrol tyrosine phosphorylation and signal transduction in mammalian cells. ..
- Cairney C, Godwin L, Bilsland A, Burns S, Stevenson K, McGarry L, et al. A 'synthetic-sickness' screen for senescence re-engagement targets in mutant cancer backgrounds. PLoS Genet. 2017;13:e1006942 pubmed publisher..These results suggest a potential mechanism to target mutant KRAS signalling through ECT2 in cancers that are reliant on activating KRAS mutations and remain refractory to current treatments. ..
- Shieh J, Wilkinson M, Millar J. The Win1 mitotic regulator is a component of the fission yeast stress-activated Sty1 MAPK pathway. Mol Biol Cell. 1998;9:311-22 pubmed..Our results suggest that the stress-activated Sty1 MAPK integrates information from multiple signaling pathways. ..
- Jones C, Kipling D, Morris M, Hepburn P, Skinner J, Bounacer A, et al. Evidence for a telomere-independent "clock" limiting RAS oncogene-driven proliferation of human thyroid epithelial cells. Mol Cell Biol. 2000;20:5690-9 pubmed
- Pham H, Dery K, Sherratt D, Tolmasky M. Osmoregulation of dimer resolution at the plasmid pJHCMW1 mwr locus by Escherichia coli XerCD recombination. J Bacteriol. 2002;184:1607-16 pubmed..coli ARG box consensus. The central region of the mwr core recombination site plays a role in regulation of site-specific recombination by the osmotic pressure of the medium. ..
- Filatov D, Charlesworth D. Substitution rates in the X- and Y-linked genes of the plants, Silene latifolia and S. dioica. Mol Biol Evol. 2002;19:898-907 pubmed..It is thus probably caused by a difference in per-replication mutation rates between the sex chromosomes. This suggests that the local mutation rate can change in a relatively short evolutionary time. ..
- Bordes P, Wigneshweraraj S, Schumacher J, Zhang X, Chaney M, Buck M. The ATP hydrolyzing transcription activator phage shock protein F of Escherichia coli: identifying a surface that binds sigma 54. Proc Natl Acad Sci U S A. 2003;100:2278-83 pubmed
- Mellone B, Ball L, Suka N, Grunstein M, Partridge J, Allshire R. Centromere silencing and function in fission yeast is governed by the amino terminus of histone H3. Curr Biol. 2003;13:1748-57 pubmed..Our data highlight the striking divergence between the histone tail requirements for the fission yeast and budding yeast silencing pathways. ..
- Sato S, Religa T, Daggett V, Fersht A. Testing protein-folding simulations by experiment: B domain of protein A. Proc Natl Acad Sci U S A. 2004;101:6952-6 pubmed..There is a continuing need for combining simulation with experiment to describe folding pathways, and of continued testing to improve predictive methods. ..
- Langdown J, Johnson D, Baglin T, Huntington J. Allosteric activation of antithrombin critically depends upon hinge region extension. J Biol Chem. 2004;279:47288-97 pubmed
- Oliver F, Christians J, Liu X, Rhind S, Verma V, Davison C, et al. Regulatory variation at glypican-3 underlies a major growth QTL in mice. PLoS Biol. 2005;3:e135 pubmed..Furthermore, these findings show that small changes in gene expression can have substantial phenotypic effects. ..
- McGregor N, Ayora S, Sedelnikova S, Carrasco B, Alonso J, Thaw P, et al. The structure of Bacillus subtilis RecU Holliday junction resolvase and its role in substrate selection and sequence-specific cleavage. Structure. 2005;13:1341-51 pubmed publisher..Models for a resolvase-DNA complex address how the enzyme might organize junctions into an approximately 4-fold symmetric form...
- Jayasinghe L, Miles G, Bayley H. Role of the amino latch of staphylococcal alpha-hemolysin in pore formation: a co-operative interaction between the N terminus and position 217. J Biol Chem. 2006;281:2195-204 pubmed..In addition, we provide evidence that an intact N terminus prevents the premature oligomerization of alphaHL monomers in solution. ..
- Pollitt A, Insall R. Abi mutants in Dictyostelium reveal specific roles for the SCAR/WAVE complex in cytokinesis. Curr Biol. 2008;18:203-10 pubmed publisher..Detailed examination reveals that normal cytokinesis requires SCAR activity, apparently regulated through multiple pathways. ..
- Bilek N, Ison C, Spratt B. Relative contributions of recombination and mutation to the diversification of the opa gene repertoire of Neisseria gonorrhoeae. J Bacteriol. 2009;191:1878-90 pubmed publisher..Examination of the neighboring pilE gene showed that changes at opa11 and pilE often occurred together, although this linkage may not be a causal one. ..
- Morris K, Thornber S, Codrai L, Richardson C, Craig A, Sadanandom A, et al. DAY NEUTRAL FLOWERING represses CONSTANS to prevent Arabidopsis flowering early in short days. Plant Cell. 2010;22:1118-28 pubmed publisher..The effect of DNF on the rhythm of CO expression is essential for the photoperiodic response of Arabidopsis, enabling it to have a different flowering response in LDs and SDs. ..
- Castanet M, Mallya U, Agostini M, Schoenmakers E, Mitchell C, Demuth S, et al. Maternal isodisomy for chromosome 9 causing homozygosity for a novel FOXE1 mutation in syndromic congenital hypothyroidism. J Clin Endocrinol Metab. 2010;95:4031-6 pubmed publisher..We have described the first case of uniparental disomy causing homozygosity for a novel, loss-of-function FOXE1/TTF-2 mutation in dysgenetic congenital hypothyroidism. ..
- Manchaiah V, Zhao F, Danesh A, Duprey R. The genetic basis of auditory neuropathy spectrum disorder (ANSD). Int J Pediatr Otorhinolaryngol. 2011;75:151-8 pubmed publisher..These discoveries have provided us with vital information as to the sites of pathology in auditory neuropathy spectrum disorders (ANSDs), and the results highlight the heterogeneity of the disorder. ..
- Ferdous M, Higgins J, Osman K, Lambing C, Roitinger E, Mechtler K, et al. Inter-homolog crossing-over and synapsis in Arabidopsis meiosis are dependent on the chromosome axis protein AtASY3. PLoS Genet. 2012;8:e1002507 pubmed publisher..This is sufficient to prevent the ectopic recombination observed in the absence of AtZYP1, thus emphasizing that in addition to its structural role the protein is important for CO formation. ..
- Anand S, Maywood E, Chesham J, Joynson G, Banks G, Hastings M, et al. Distinct and separable roles for endogenous CRY1 and CRY2 within the circadian molecular clockwork of the suprachiasmatic nucleus, as revealed by the Fbxl3(Afh) mutation. J Neurosci. 2013;33:7145-53 pubmed publisher..Incorporation of CRY-mediated transcriptional feedback thus confers stability to intrinsic SCN oscillations, establishing periods between 18 and 29 h, as determined by selective contributions of CRY1 and CRY2. ..
- Law B, Spain V, Leinster V, Chia R, Beilina A, Cho H, et al. A direct interaction between leucine-rich repeat kinase 2 and specific ?-tubulin isoforms regulates tubulin acetylation. J Biol Chem. 2014;289:895-908 pubmed publisher..Taken together, our data shed light on the nature of the LRRK2-tubulin interaction, and indicate that alterations in microtubule stability caused by changes in LRRK2 might contribute to the pathogenesis of Parkinson disease. ..
- Pilecki B, Holm A, Schlosser A, Moeller J, Wohl A, Zuk A, et al. Characterization of Microfibrillar-associated Protein 4 (MFAP4) as a Tropoelastin- and Fibrillin-binding Protein Involved in Elastic Fiber Formation. J Biol Chem. 2016;291:1103-14 pubmed publisher..Furthermore, we found that MFAP4 actively promotes tropoelastin self-assembly. In conclusion, our data identify MFAP4 as a new ligand of microfibrils and tropoelastin involved in proper elastic fiber organization. ..
- Hardie R, Minke B. Spontaneous activation of light-sensitive channels in Drosophila photoreceptors. J Gen Physiol. 1994;103:389-407 pubmed..2 ms). This implies that the noise in the WT RDC may actually be dominated by non-trp-dependent channels and that the trp-dependent channels may be of even lower unit conductance. ..
- Bingham C, Bulman M, Ellard S, Allen L, Lipkin G, Hoff W, et al. Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease. Am J Hum Genet. 2001;68:219-24 pubmed..We conclude that there is genetic heterogeneity in familial GCKD and that the hypoplastic subtype is a part of the clinical spectrum of the renal cysts and diabetes syndrome that is associated with HNF-1beta mutations. ..
- Beaudoin F, Gable K, Sayanova O, Dunn T, Napier J. A Saccharomyces cerevisiae gene required for heterologous fatty acid elongase activity encodes a microsomal beta-keto-reductase. J Biol Chem. 2002;277:11481-8 pubmed..Biochemical characterization of microsomal preparations from ybr159Delta cells revealed a primary perturbation in beta-ketoacyl reduction, confirming the assignment of YBR159w as encoding a component of the microsomal elongase. ..
- Cabart P, Murphy S. Assembly of human small nuclear RNA gene-specific transcription factor IIIB complex de novo on and off promoter. J Biol Chem. 2002;277:26831-8 pubmed..TBP.DNA complex, and subsequently stimulate pol III transcription. Moreover, mutation of the BURE reduces pol III transcription and induces transcription by RNA polymerase II from the U2 gene promoter carrying a minimal TATA box. ..
- Pittman M, Corker H, Wu G, Binet M, Moir A, Poole R. Cysteine is exported from the Escherichia coli cytoplasm by CydDC, an ATP-binding cassette-type transporter required for cytochrome assembly. J Biol Chem. 2002;277:49841-9 pubmed..We propose that CydDC exports cysteine, crucial for redox homeostasis in the periplasm...
- Anand S, Penrhyn Lowe S, Venkitaraman A. AURORA-A amplification overrides the mitotic spindle assembly checkpoint, inducing resistance to Taxol. Cancer Cell. 2003;3:51-62 pubmed..Consistent with this conclusion, elevated Aurora-A expression causes resistance to apoptosis induced by Taxol in a human cancer cell line. ..
- Jones S, Lloyd L, Tan K, Buck M. Secretion defects that activate the phage shock response of Escherichia coli. J Bacteriol. 2003;185:6707-11 pubmed..Here we show that defects in yidC and sec secretion induce psp but that defects in tat and srp have no effect. We have also determined the cellular location of PspB and PspD proteins. ..
- Wickremasinghe M, Thomas L, O Kane C, Uddin J, Friedland J. Transcriptional mechanisms regulating alveolar epithelial cell-specific CCL5 secretion in pulmonary tuberculosis. J Biol Chem. 2004;279:27199-210 pubmed..IL-1beta is the critical regulator of tuberculosis-stimulated CCL5 secretion in the lung. ..
- Twigg S, Kan R, Babbs C, Bochukova E, Robertson S, Wall S, et al. Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome. Proc Natl Acad Sci U S A. 2004;101:8652-7 pubmed..This is the only known mutation in the ephrin/Eph receptor signaling system in humans and provides clues to the biogenesis of craniosynostosis...
- Cheung B, Arellano Carbajal F, Rybicki I, de Bono M. Soluble guanylate cyclases act in neurons exposed to the body fluid to promote C. elegans aggregation behavior. Curr Biol. 2004;14:1105-11 pubmed..elegans to aggregate. Instead, these molecules may transduce one of several pathways that induce C. elegans to aggregate or may modulate aggregation by responding to cues in C. elegans body fluid. ..
- Winks J, Hughes S, Filippov A, Tatulian L, Abogadie F, Brown D, et al. Relationship between membrane phosphatidylinositol-4,5-bisphosphate and receptor-mediated inhibition of native neuronal M channels. J Neurosci. 2005;25:3400-13 pubmed
- Gu Y, Oberwinkler J, Postma M, Hardie R. Mechanisms of light adaptation in Drosophila photoreceptors. Curr Biol. 2005;15:1228-34 pubmed
- Wong A, Bogni S, Kotka P, de Graaff E, D AGATI V, Costantini F, et al. Phosphotyrosine 1062 is critical for the in vivo activity of the Ret9 receptor tyrosine kinase isoform. Mol Cell Biol. 2005;25:9661-73 pubmed..Our studies identify Y1062 as a critical regulator of Ret9 signaling and suggest that Ret51-specific motifs are likely to inhibit the activity of this isoform. ..
- Hill W, Salisbury B, Webb A. Parentage identification using single nucleotide polymorphism genotypes: application to product tracing. J Anim Sci. 2008;86:2508-17 pubmed publisher..This appears to be a straightforward and potentially effective means of product tracing. ..
- Abu Bakar S, Hollox E, Armour J. Allelic recombination between distinct genomic locations generates copy number diversity in human beta-defensins. Proc Natl Acad Sci U S A. 2009;106:853-8 pubmed publisher..7% per gamete. This places it among the fastest-changing copy number variants currently known. ..
- Haddrill P, Loewe L, Charlesworth B. Estimating the parameters of selection on nonsynonymous mutations in Drosophila pseudoobscura and D. miranda. Genetics. 2010;185:1381-96 pubmed publisher..Overall, the results show that both purifying selection and positive selection on nonsynonymous mutations are pervasive. ..
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