Genomes and Genes
Experts and Doctors on mutation in Canada
Publications295 found, 100 shown here
- Koo J, Tammam S, Ku S, Sampaleanu L, Burrows L, Howell P. PilF is an outer membrane lipoprotein required for multimerization and localization of the Pseudomonas aeruginosa Type IV pilus secretin. J Bacteriol. 2008;190:6961-9 pubmed publisher..An alignment of pseudomonad PilF sequences revealed three highly conserved surfaces that may be involved in PilF function...
- Majewski J, Schwartzentruber J, Caqueret A, Patry L, Marcadier J, Fryns J, et al. Mutations in NOTCH2 in families with Hajdu-Cheney syndrome. Hum Mutat. 2011;32:1114-7 pubmed publisher..Notch-mediated signaling is known to play a role in bone metabolism. Our results support a potential therapeutic role for Notch pathways in treatment of osteoporosis. ..
- Fittipaldi N, Takamatsu D, de la Cruz Dominguez Punaro M, Lecours M, Montpetit D, Osaki M, et al. Mutations in the gene encoding the ancillary pilin subunit of the Streptococcus suis srtF cluster result in pili formed by the major subunit only. PLoS ONE. 2010;5:e8426 pubmed publisher..In addition, since the highly virulent strains under investigation are unlikely to produce other pili, our results suggest that pili might be dispensable for critical steps of the S. suis pathogenesis of infection. ..
- Safaee Ardekani G, Jafarnejad S, Tan L, Saeedi A, Li G. The prognostic value of BRAF mutation in colorectal cancer and melanoma: a systematic review and meta-analysis. PLoS ONE. 2012;7:e47054 pubmed publisher..7 times (95% CI, 1.37-2.12). We revealed that BRAF mutation is an absolute risk factor for patient survival in colorectal cancer and melanoma. ..
- Scrocchi L, Brown T, Drucker D. Leptin sensitivity in nonobese glucagon-like peptide I receptor -/- mice. Diabetes. 1997;46:2029-34 pubmed..Furthermore, the greater effects of leptin on glucose and insulin in leptin-treated versus pair-fed GLP-IR -/- mice raises the possibility that disruption of GLP-I signaling modifies the sensitivity to leptin in vivo. ..
- Lloyd V, Ramaswami M, Kramer H. Not just pretty eyes: Drosophila eye-colour mutations and lysosomal delivery. Trends Cell Biol. 1998;8:257-9 pubmed..Thus, classical work describing more than 85 eye-colour mutations and their genetic interactions offers a remarkable, untapped resource for the genetic analysis of protein delivery to lysosomes. ..
- Miranda C, Makui H, Andrews N, Santos M. Contributions of beta2-microglobulin-dependent molecules and lymphocytes to iron regulation: insights from HfeRag1(-/-) and beta2mRag1(-/-) double knock-out mice. Blood. 2004;103:2847-9 pubmed..These results suggest that other beta2m-interacting protein(s) may be involved in iron regulation and that in the absence of functional Hfe molecules lymphocyte numbers may influence iron overload severity. ..
- Soulet D, Gagnon B, Rivest S, Audette M, Poulin R. A fluorescent probe of polyamine transport accumulates into intracellular acidic vesicles via a two-step mechanism. J Biol Chem. 2004;279:49355-66 pubmed..The present data thus support model A, and indicate that polyamine accumulation is primarily driven by the activity of a vesicular H+:polyamine carrier. ..
- Guo J, Wang S, Wang J, Huang W, Liang J, Chen J. Dissection of the relationship between RACK1 and heterotrimeric G-proteins in Arabidopsis. Plant Cell Physiol. 2009;50:1681-94 pubmed publisher..Taken together, these findings revealed some fundamental differences in the relationship of RACK1 and G-proteins between Arabidopsis and mammals. ..
- Curtis A, Masellis M, Hsiung G, Moineddin R, Zhang K, Au B, et al. Sex differences in the prevalence of genetic mutations in FTD and ALS: A meta-analysis. Neurology. 2017;89:1633-1642 pubmed publisher..55). Higher female prevalence of C9orf72 hexanucleotide repeat expansions in ALS and GRN mutations in FTD suggest that sex-related risk factors might moderate C9orf72 and GRN-mediated phenotypic expression. ..
- Boulanger M, Kukimoto M, Nishiyama M, Horinouchi S, Murphy M. Catalytic roles for two water bridged residues (Asp-98 and His-255) in the active site of copper-containing nitrite reductase. J Biol Chem. 2000;275:23957-64 pubmed publisher..The interaction of His-255 with the bridging water appears to be necessary for catalysis and may donate a proton to reaction intermediates in addition to Asp-98...
- Le Boeuf F, Houle F, Huot J. Regulation of vascular endothelial growth factor receptor 2-mediated phosphorylation of focal adhesion kinase by heat shock protein 90 and Src kinase activities. J Biol Chem. 2004;279:39175-85 pubmed..Our findings underscore for the first time the key role played by the VEGFR2-HSP90-RhoA-ROCK-FAK/Tyr(407) pathway in transducing the VEGF signal that leads to the assembly of focal adhesions and endothelial cell migration. ..
- De Azavedo J, Duncan C, Kilburn L, Downar J, Kong B, Lad S, et al. Relative potential for selection of quinolone-resistance-determining-region mutations in Streptococcus pneumoniae by gemifloxacin, gatifloxacin and moxifloxacin. J Chemother. 2006;18:373-8 pubmed
- Dridi L, Ahmed Ouameur A, Ouellette M. High affinity S-Adenosylmethionine plasma membrane transporter of Leishmania is a member of the folate biopterin transporter (FBT) family. J Biol Chem. 2010;285:19767-75 pubmed publisher..A new function in one carbon metabolism, also a pathway of interest for chemotherapeutic interventions, is described for a novel class of membrane proteins found in diverse organisms. ..
- Okamoto S, Van Petegem F, Patrauchan M, Eltis L. AnhE, a metallochaperone involved in the maturation of a cobalt-dependent nitrile hydratase. J Biol Chem. 2010;285:25126-33 pubmed publisher..The data support a model in which AnhE acts as a dimeric metallochaperone to deliver cobalt to ANHase. This study provides insight into the maturation of NHases and metallochaperone function. ..
- Kamath B, Bauer R, Loomes K, Chao G, Gerfen J, Hutchinson A, et al. NOTCH2 mutations in Alagille syndrome. J Med Genet. 2012;49:138-44 pubmed publisher..There are only two NOTCH2 families reported to date. This study hypothesised that additional NOTCH2 mutations would be present in patients with clinical features of ALGS without a JAG1 mutation...
- Horowitz A, Lapointe J, Eid R, Sheibani S, Gharib N, Jones N, et al. The human septin7 and the yeast CDC10 septin prevent Bax and copper mediated cell death in yeast. Biochim Biophys Acta. 2013;1833:3186-3194 pubmed publisher..Taken together, our analysis suggests that anti-apoptosis is a novel yet evolutionarily conserved property of the septin7 sub-family of septins. ..
- El Sharkawy I, Sherif S, El Kayal W, Mahboob A, Abubaker K, Ravindran P, et al. Characterization of gibberellin-signalling elements during plum fruit ontogeny defines the essentiality of gibberellin in fruit development. Plant Mol Biol. 2014;84:399-413 pubmed publisher..Our findings support the critical contribution of GA alone or in association with other hormones in mediating plum fruit growth and development. ..
- Malloff C, Fernandez R, Dullaghan E, Stokes R, Lam W. Two-dimensional display and whole genome comparison of bacterial pathogen genomes of high G+C DNA content. Gene. 2002;293:205-11 pubmed
- Gaudreau R, Beaulieu M, Chen Z, Le Gouill C, Lavigne P, Stankova J, et al. Structural determinants regulating expression of the high affinity leukotriene B4 receptor: involvement of dileucine motifs and alpha-helix VIII. J Biol Chem. 2004;279:10338-45 pubmed
- Diawara A, Schwenkenbecher J, Kaplan R, Prichard R. Molecular and biological diagnostic tests for monitoring benzimidazole resistance in human soil-transmitted helminths. Am J Trop Med Hyg. 2013;88:1052-61 pubmed publisher..However, further investigations are needed to validate our molecular and biological tests on additional field isolates. ..
- Malo C. Free amino acid levels in serum and small intestine during the post-natal development of normal and sparse-fur mutant mice. Comp Biochem Physiol A Physiol. 1994;109:1049-57 pubmed..These data confirm the validity of spf mice as a model for the study of nutritional requirements in OTC-deficient animals. ..
- Peighambari S, Hunter D, Shewen P, Gyles C. Safety, immunogenicity, and efficacy of two Escherichia coli cya crp mutants as vaccines for broilers. Avian Dis. 2002;46:287-97 pubmed..We conclude that the mutant O2 strain provided moderate protection against airsacculitis. ..
- Sossi V, de la Fuente Fernandez R, Nandhagopal R, Schulzer M, Mckenzie J, Ruth T, et al. Dopamine turnover increases in asymptomatic LRRK2 mutations carriers. Mov Disord. 2010;25:2717-23 pubmed publisher..These results support a compensatory role of increased DA turnover in presymptomatic disease and indicate that at this stage, in contrast to the symptomatic PD phase, increased turnover is not related to DAT. ..
- Galarneau L, Nourani A, Boudreault A, Zhang Y, Heliot L, Allard S, et al. Multiple links between the NuA4 histone acetyltransferase complex and epigenetic control of transcription. Mol Cell. 2000;5:927-37 pubmed..These data along with the known epigenetic roles of Act3/Arp4 and homologs of Epl1 and Esa1 strongly support an essential role for chromatin structure modification by NuA4 in transcription regulation in vivo. ..
- Austin R, Vidaurre D, Stamatiou G, Breit R, Provart N, Bonetta D, et al. Next-generation mapping of Arabidopsis genes. Plant J. 2011;67:715-25 pubmed publisher..This strategy can easily be applied to other model organisms, and we expect that it will also have utility in crops and any other eukaryote with a completed genome sequence. ..
- Monajemi M, Woodworth C, Benkaroun J, Grant M, Larijani M. Emerging complexities of APOBEC3G action on immunity and viral fitness during HIV infection and treatment. Retrovirology. 2012;9:35 pubmed publisher..We discuss the limitations of experimental systems used to assess its activities as well as caveats in data interpretation. ..
- Rocchetta H, Burrows L, Pacan J, Lam J. Three rhamnosyltransferases responsible for assembly of the A-band D-rhamnan polysaccharide in Pseudomonas aeruginosa: a fourth transferase, WbpL, is required for the initiation of both A-band and B-band lipopolysaccharide synthesis. Mol Microbiol. 1998;28:1103-19 pubmed..These data indicate that A-band polysaccharide assembly requires four glycosyltransferases, one of which is necessary for initiating both A-band and B-band LPS synthesis. ..
- Wilson A, Leclerc D, Rosenblatt D, Gravel R. Molecular basis for methionine synthase reductase deficiency in patients belonging to the cblE complementation group of disorders in folate/cobalamin metabolism. Hum Mol Genet. 1999;8:2009-16 pubmed..These data demonstrate a unique requirement for MSR in the reductive activation of MS. ..
- Broccoli S, Phoenix P, Drolet M. Isolation of the topB gene encoding DNA topoisomerase III as a multicopy suppressor of topA null mutations in Escherichia coli. Mol Microbiol. 2000;35:58-68 pubmed
- Tahlan K, Park H, Wong A, Beatty P, Jensen S. Two sets of paralogous genes encode the enzymes involved in the early stages of clavulanic acid and clavam metabolite biosynthesis in Streptomyces clavuligerus. Antimicrob Agents Chemother. 2004;48:930-9 pubmed..This may be attributed to the presence of the argJ gene in S. clavuligerus, which encodes yet another ornithine acetyltransferase enzyme that may be able to compensate for the lack of OAT1 and -2 in the double mutants. ..
- Zhang S, Phelan C, Zhang P, Rousseau F, Ghadirian P, Robidoux A, et al. Frequency of the CHEK2 1100delC mutation among women with breast cancer: an international study. Cancer Res. 2008;68:2154-7 pubmed publisher..We estimate that the CHEK2 1100delC allele is associated with an odds ratio of 2.6 for breast cancer, which corresponds to a lifetime risk of approximately 24% in Ontario. ..
- Huang H, Millat G, Rodriguez Lafrasse C, Rousson R, Kugener B, Chevalier P, et al. Biophysical characterization of a new SCN5A mutation S1333Y in a SIDS infant linked to long QT syndrome. FEBS Lett. 2009;583:890-6 pubmed publisher..The correlation between the biophysical data and arrhythmia susceptibility suggested that the SIDS was secondary to the LQT3-associated S1333Y mutation. ..
- Longtin J, Vermeiren C, Shahinas D, Tamber G, Mcgeer A, Low D, et al. Novel mutations in a patient isolate of Streptococcus agalactiae with reduced penicillin susceptibility emerging after long-term oral suppressive therapy. Antimicrob Agents Chemother. 2011;55:2983-5 pubmed publisher..Molecular characterization of the isolate before and after long-term penicillin therapy revealed 5 mutations in the ligand-binding regions of PBP1a, -2a, and -2x not previously reported in GBS. ..
- Bergeron K, Silversides D, Pilon N. The developmental genetics of Hirschsprung's disease. Clin Genet. 2013;83:15-22 pubmed publisher..The objective of this review is to provide an overview of the pathophysiology and genetics of HSCR, within the context of our current knowledge of NCC development, sex chromosome genetics and laboratory models...
- Kulkarni A, Damha M, Schinazi R, Mo H, DOEHLE B, Sagan S, et al. A Complex Network of Interactions between S282 and G283 of Hepatitis C Virus Nonstructural Protein 5B and the Template Strand Affects Susceptibility to Sofosbuvir and Ribavirin. Antimicrob Agents Chemother. 2016;60:2018-27 pubmed publisher
- Supanjani S, Habib A, Mabood F, Lee K, Donnelly D, Smith D. Nod factor enhances calcium uptake by soybean. Plant Physiol Biochem. 2006;44:866-72 pubmed..This work suggests that the rhizobial symbiosis, in addition to its known role in provision of nitrogen fixation, also improves early calcium uptake into soybean plants. ..
- Svendsen P, Marshall S, Kyba M, Brook W. The combgap locus encodes a zinc-finger protein that regulates cubitus interruptus during limb development in Drosophila melanogaster. Development. 2000;127:4083-93 pubmed..Finally, we find that the combgap protein binds to polytene chromosomes at many sites including the cubitus interruptus locus, suggesting that it could be a direct regulator of cubitus interruptus transcription. ..
- Hitzler J, Cheung J, Li Y, Scherer S, Zipursky A. GATA1 mutations in transient leukemia and acute megakaryoblastic leukemia of Down syndrome. Blood. 2003;101:4301-4 pubmed..These findings suggest a model of malignant transformation in Down syndrome AMKL in which GATA1 mutations are an early event and AMKL arises from latent TL clones following initial apparent remission. ..
- Mansergh F, Orton N, Vessey J, Lalonde M, Stell W, Tremblay F, et al. Mutation of the calcium channel gene Cacna1f disrupts calcium signaling, synaptic transmission and cellular organization in mouse retina. Hum Mol Genet. 2005;14:3035-46 pubmed..Moreover, the outcome of this study provides critical clues to the pathophysiology of the human retinal channelopathy of X-linked incomplete CSNB. ..
- Onishi I, Lin P, Diering G, Williams W, Numata M. RACK1 associates with NHE5 in focal adhesions and positively regulates the transporter activity. Cell Signal. 2007;19:194-203 pubmed..We propose that RACK1 activates NHE5 both by integrin-dependent and independent pathways, which may coordinate cellular ion homeostasis during cell-matrix adhesion. ..
- Lamont R, Lamont E, Childs S. Antagonistic interactions among Plexins regulate the timing of intersegmental vessel formation. Dev Biol. 2009;331:199-209 pubmed publisher..Consistent with this observation, we show that PlxnB2 acts cell autonomously in endothelial cells. This suggests a model where multiple semaphorin-plexin interactions control angioblast sprouting behaviour. ..
- Schmeisser K, Fardghassemi Y, Parker J. A rapid chemical-genetic screen utilizing impaired movement phenotypes in C. elegans: Input into genetics of neurodevelopmental disorders. Exp Neurol. 2017;293:101-114 pubmed publisher..Positively acting compounds could also be promising candidates for preclinical studies. ..
- He C, Masson J, Ramotar D. A Saccharomyces cerevisiae phleomycin-sensitive mutant, ph140, is defective in the RAD6 DNA repair gene. Can J Microbiol. 1996;42:1263-6 pubmed..Moreover, a functional copy of the RAD6 gene restored full phleomycin resistance to strain ph140. Our findings indicate that the RAD6 protein is essential for yeast cellular resistance to phleomycin. ..
- Filali M, Dequen F, Lalonde R, Julien J. Sensorimotor and cognitive function of a NEFL(P22S) mutant model of Charcot-Marie-Tooth disease type 2E. Behav Brain Res. 2011;219:175-80 pubmed publisher..This model mimics some aspects of human CMT pathology and provides an opportunity of ameliorating CMT symptoms with experimental therapies. ..
- Parga J, Sauther M, Cuozzo F, Jacky I, Lawler R. Evaluating ring-tailed lemurs (Lemur catta) from southwestern Madagascar for a genetic population bottleneck. Am J Phys Anthropol. 2012;147:21-9 pubmed publisher..This evaluation additionally functions to highlight the continuing environmental and anthropogenic challenges faced by lemurs in southwestern Madagascar...
- Liu J, Zeng L, Kennedy R, Gruenig N, Childs S. ?Pix plays a dual role in cerebral vascular stability and angiogenesis, and interacts with integrin ?v?8. Dev Biol. 2012;363:95-105 pubmed publisher..These data suggest that a complex involving ?Pix, GIT1 and integrin ?(v)?(8) may regulate vascular stability, cerebral angiogenesis and endothelial cell proliferation in the developing embryo. ..
- Filali M, Lalonde R. Neurobehavioral Anomalies in the Pitx3/ak Murine Model of Parkinson's Disease and MPTP. Behav Genet. 2016;46:228-41 pubmed publisher..Increased hindlimb clasping time and rotorod deficits seen in mutants were also exhibited by mice injected with MPTP, indicating an influence of dopamine on these behaviors. ..
- Edmondson R, Crosbie E, Nickkho Amiry M, Kaufmann A, Stelloo E, Nijman H, et al. Markers of the p53 pathway further refine molecular profiling in high-risk endometrial cancer: A TransPORTEC initiative. Gynecol Oncol. 2017;146:327-333 pubmed publisher..Markers of the p53 pathway improve stratification of endometrial cancers and provide novel insights into the role of this pathway in the disease. ..
- Callahan J. Molecular basis of GM1 gangliosidosis and Morquio disease, type B. Structure-function studies of lysosomal beta-galactosidase and the non-lysosomal beta-galactosidase-like protein. Biochim Biophys Acta. 1999;1455:85-103 pubmed..In this review, I focus mainly on the primary and secondary beta-galactosidase deficiency states and offer some hypotheses to account for differences between GM1 gangliosidosis and Morquio B disease. ..
- Ness R, Siol M, Barrett S. Genomic consequences of transitions from cross- to self-fertilization on the efficacy of selection in three independently derived selfing plants. BMC Genomics. 2012;13:611 pubmed publisher..Our findings are consistent with a small reduction in the efficacy of selection on protein sequences associated with transitions to selfing, and reduced selection in selfers on synonymous changes that influence codon usage. ..
- Johnson P, Benchimol S. Friend virus induced murine erythroleukaemia: the p53 locus. Cancer Surv. 1992;12:137-51 pubmed..Further studies of the mechanisms by which wild type and mutant p53 affect the growth of p53 negative FCLs may reveal important biochemical properties of p53 in relation to cell cycle control and differentiation of erythroid cells...
- Côté P, Moukhles H, Carbonetto S. Dystroglycan is not required for localization of dystrophin, syntrophin, and neuronal nitric-oxide synthase at the sarcolemma but regulates integrin alpha 7B expression and caveolin-3 distribution. J Biol Chem. 2002;277:4672-9 pubmed..These results support the possibility that alpha(7B) integrin compensates in mediating cell-extracellular matrix attachment but cannot rescue the dystrophic phenotype. ..
- Murdoch S, Djuric U, Mazhar B, Seoud M, Khan R, Kuick R, et al. Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans. Nat Genet. 2006;38:300-2 pubmed..NALP7 is the first maternal effect gene identified in humans and is also responsible for recurrent spontaneous abortions, stillbirths and intrauterine growth retardation. ..
- Pata M, Héraud C, Vacher J. OSTM1 bone defect reveals an intercellular hematopoietic crosstalk. J Biol Chem. 2008;283:30522-30 pubmed publisher..Together these experiments are the first to demonstrate the existence of hematopoietic crosstalk for the production of functional and active osteoclasts. ..
- Cheung K, Johnson N, Affleck J, Severson T, Steidl C, Ben Neriah S, et al. Acquired TNFRSF14 mutations in follicular lymphoma are associated with worse prognosis. Cancer Res. 2010;70:9166-74 pubmed publisher..06-9.57, P=0.039), respectively]. Our findings identify TNFRSF14 as a candidate gene associated with a subset of FL, based on frequent occurrence of acquired mutations and their correlation with inferior clinical outcomes. ..
- Fung Leung W, Schilham M, Rahemtulla A, Kundig T, Vollenweider M, Potter J, et al. CD8 is needed for development of cytotoxic T cells but not helper T cells. Cell. 1991;65:443-9 pubmed
- Eng F, Barsalou A, Akutsu N, Mercier I, Zechel C, Mader S, et al. Different classes of coactivators recognize distinct but overlapping binding sites on the estrogen receptor ligand binding domain. J Biol Chem. 1998;273:28371-7 pubmed
- Fucile G, Falconer S, Christendat D. Evolutionary diversification of plant shikimate kinase gene duplicates. PLoS Genet. 2008;4:e1000292 pubmed publisher..This study examines the functional diversification of ancient and recent plant SK gene duplicates and highlights the utility of SKs as scaffolds for functional innovation. ..
- Viens P, Dubeau M, Kimura A, Desaki Y, Shinya T, Shibuya N, et al. Uptake of chitosan-derived D-glucosamine oligosaccharides in Streptomyces coelicolor A3(2). FEMS Microbiol Lett. 2015;362: pubmed publisher..coelicolor A3(2). The ATP-binding component MsiK was essential for CsnEFG transport function. Also, deletion of msiK abolished the induction of csnA transcription by GlcN oligosaccharides. ..
- Kollias H, Perry R, Miyake T, Aziz A, McDermott J. Smad7 promotes and enhances skeletal muscle differentiation. Mol Cell Biol. 2006;26:6248-60 pubmed..Taken together, these data implicate Smad7 as a fundamental regulator of differentiation in skeletal muscle cells. ..
- Falzarano D, Krokhin O, Wahl Jensen V, Seebach J, Wolf K, Schnittler H, et al. Structure-function analysis of the soluble glycoprotein, sGP, of Ebola virus. Chembiochem. 2006;7:1605-11 pubmed publisher..This indicates that these disulfide bonds are critical for the proposed anti-inflammatory function of sGP...
- Usongo V, Martel M, Balleydier A, Drolet M. Mutations reducing replication from R-loops suppress the defects of growth, chromosome segregation and DNA supercoiling in cells lacking topoisomerase I and RNase HI activity. DNA Repair (Amst). 2016;40:1-17 pubmed publisher..Furthermore, we show that topo III overproduction is unable to complement the growth defect of topA rnhA null mutants at low temperatures that stabilizes hyper-negatively supercoiled DNA. ..
- Mably E, Fung E, Snyder F. Genetic deficiency of purine nucleoside phosphorylase in the mouse. Characterization of partially and severely enzyme deficient mutants. Genome. 1989;32:1026-32 pubmed
- Champagne J, Laliberté Gagné M, Leclerc D. Phosphorylation of the termini of Cauliflower mosaic virus precapsid protein is important for productive infection. Mol Plant Microbe Interact. 2007;20:648-58 pubmed..These results suggest that phosphorylation of the N- and C-termini of CaMV pre-CP plays an important role in the initiation of viral infection. ..
- Qian J, Deveault C, Bagga R, Xie X, Slim R. Women heterozygous for NALP7/NLRP7 mutations are at risk for reproductive wastage: report of two novel mutations. Hum Mutat. 2007;28:741 pubmed..Our data on this new family and on heterozygous women from previously reported families indicate that women heterozygous for NLRP7 mutations are at risk for reproductive wastage without the manifestation of molar phenotype. ..
- Wellhauser L, Kim Chiaw P, Pasyk S, Li C, Ramjeesingh M, Bear C. A small-molecule modulator interacts directly with deltaPhe508-CFTR to modify its ATPase activity and conformational stability. Mol Pharmacol. 2009;75:1430-8 pubmed publisher..These findings suggest that direct binding of this small molecule induces and/or stabilizes a structure that promotes the channel open state and may underlie its efficacy as a corrector of DeltaPhe508-CFTR. ..
- Parkes T, Hilliker A, Phillips J. Genetic and biochemical analysis of glutathione-S-transferase in the oxygen defense system of Drosophila melanogaster. Genome. 1993;36:1007-14 pubmed..Finally, through a biochemical analysis of representative alleles of known lethal complementation gene. The implications of these findings to the role of GSH and GST in D. melanogaster oxygen defense are discussed. ..
- Deveault C, Qian J, Chebaro W, Ao A, Gilbert L, Mehio A, et al. NLRP7 mutations in women with diploid androgenetic and triploid moles: a proposed mechanism for mole formation. Hum Mol Genet. 2009;18:888-97 pubmed publisher..In women with normal immune system, chaotic mosaic aneuploidies may also occur during early cleavage, however, androgenetic cells would die after implantation or stay undetected, confined to a small portion of the placenta. ..
- Dahiya I, Stevenson R. The ZnuABC operon is important for Yersinia ruckeri infections of rainbow trout, Oncorhynchus mykiss (Walbaum). J Fish Dis. 2010;33:331-40 pubmed publisher..ruckeri...
- Tudor R, D Silva A, Tremblay A, MacEachern P, Morris D, Brenner D, et al. Beyond disease-progression: Clinical outcomes after EGFR-TKIs in a cohort of EGFR mutated NSCLC patients. PLoS ONE. 2017;12:e0181867 pubmed publisher..54, 6.58). Subsequent systemic therapy after continuing TKI at initial-PD reduced the risk of death. Additionally, our data suggest that positive smoking history increases death risk for some EGFR mutation types and females. ..
- Zhang D, Nunoya K, Vasa M, Gu H, Cole S, Deeley R. Mutational analysis of polar amino acid residues within predicted transmembrane helices 10 and 16 of multidrug resistance protein 1 (ABCC1): effect on substrate specificity. Drug Metab Dispos. 2006;34:539-46 pubmed..The location of these and other functionally important residues in TM helices 11, 16, and 17 is discussed in the context of an energy-minimized model of the membrane-spanning domains of MRP1. ..
- Zhang J, Wu X, Padovani D, Schubert H, Gravel R. Ligand-binding by catalytically inactive mutants of the cblB complementation group defective in human ATP:cob(I)alamin adenosyltransferase. Mol Genet Metab. 2009;98:278-84 pubmed publisher..Characterization of ligand-binding by MMAB provides insight into the mechanism of cobalamin adenosylation and the effect of patient mutations in the inherited disorder. ..
- Deml B, Reis L, Lemyre E, Clark R, Kariminejad A, Semina E. Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma. Eur J Hum Genet. 2016;24:535-41 pubmed publisher..This study underscores the utility of whole-exome sequencing for identification of causative mutations in highly variable ocular phenotypes as well as the extreme genetic heterogeneity of A/M conditions. ..
- Leary S, Kaufman B, Pellecchia G, Guercin G, Mattman A, Jaksch M, et al. Human SCO1 and SCO2 have independent, cooperative functions in copper delivery to cytochrome c oxidase. Hum Mol Genet. 2004;13:1839-48 pubmed..We propose a model in which COX17 delivers copper to SCO2, which in turn transfers it directly to the CuA site at an early stage of COX assembly in a reaction that is facilitated by SCO1. ..
- Emberley E, Niu Y, Curtis L, Troup S, Mandal S, Myers J, et al. The S100A7-c-Jun activation domain binding protein 1 pathway enhances prosurvival pathways in breast cancer. Cancer Res. 2005;65:5696-702 pubmed..We conclude that the S100A7-Jab1 pathway acts to enhance survival under conditions of cellular stress, such as anoikis, which may promote progression of breast cancer. ..
- Aneja P, Zachertowska A, Charles T. Comparison of the symbiotic and competition phenotypes of Sinorhizobium meliloti PHB synthesis and degradation pathway mutants. Can J Microbiol. 2005;51:599-604 pubmed
- King J, Vinogradov E, Tran V, Lam J. Biosynthesis of uronamide sugars in Pseudomonas aeruginosa O6 and Escherichia coli O121 O antigens. Environ Microbiol. 2010;12:1531-44 pubmed publisher..The E. coli O121 wbqG mutant O antigen contains 2-acetamido-2-deoxy-d-galacturonate (d-GalNAcA), instead of d-GalNAcAN, demonstrating that wbqG is specifically required for biosynthesis of the carboxamide in this sugar. ..
- Lakin Thomas P, Bell Pedersen D, Brody S. The genetics of circadian rhythms in Neurospora. Adv Genet. 2011;74:55-103 pubmed publisher..In conclusion, the authors provide an outlook summarizing their suggestions for areas that would be fruitful for further exploration...
- Bareke E, Saillour V, Spinella J, Vidal R, Healy J, Sinnett D, et al. Joint genotype inference with germline and somatic mutations. BMC Bioinformatics. 2013;14 Suppl 5:S3 pubmed publisher..We implemented the methods in an open-source software package (QUADGT) that uses the standard file formats of the 1000 Genomes Project. Our method's utility is illustrated on quartets from the ALL cohort. ..
- Blanco I, Kuchenbaecker K, Cuadras D, Wang X, Barrowdale D, de Garibay G, et al. Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers. PLoS ONE. 2015;10:e0120020 pubmed publisher..Together, the results of this study support the hypothesis of a causative link between altered function of AURKA-HMMR-TPX2-TUBG1 and breast carcinogenesis in BRCA1/2 mutation carriers. ..
- Lemieux M, Laflamme O, Thiry L, Boulanger Piette A, Frenette J, Bretzner F. Motor hypertonia and lack of locomotor coordination in mutant mice lacking DSCAM. J Neurophysiol. 2016;115:1355-71 pubmed publisher..Our study demonstrates that the DSCAM mutation induces dystonic hypertonia and a disruption of locomotor gaits. ..
- Gómez Cuadrado A, Rousseau S, Renaud J, Ruiz Carrillo A. Repression of the H5 histone gene by a factor from erythrocytes that binds to the region of transcription initiation. EMBO J. 1992;11:1857-66 pubmed..Purified cIBF is a non-glycosylated 68-70 kDa DNA binding protein(s) which also recognizes the region of transcription initiation of the H5 gene. ..
- Boer P, Potten H, Adra C, Jardine K, Mullhofer G, McBurney M. Polymorphisms in the coding and noncoding regions of murine Pgk-1 alleles. Biochem Genet. 1990;28:299-308 pubmed..A number of other DNA sequence polymorphisms exist between Pgk-1b and Pgk-1a including part of an L1 repeated element unique to Pgk-1a. ..
- Jarvis S, Barr W, Feng Z, Hamid J, Zamponi G. Molecular determinants of syntaxin 1 modulation of N-type calcium channels. J Biol Chem. 2002;277:44399-407 pubmed..Finally, syntaxin 1A appeared to compete with Ggamma for the Gbeta subunit both in vitro and under physiological conditions, suggesting that syntaxin 1A may contain a G-protein gamma subunit-like domain. ..
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