Experts and Doctors on mutation in California, United States


Locale: California, United States
Topic: mutation

Top Publications

  1. Wang W, Ding J, Allen E, Zhu P, Zhang L, Vogel H, et al. Gigaxonin interacts with tubulin folding cofactor B and controls its degradation through the ubiquitin-proteasome pathway. Curr Biol. 2005;15:2050-5 pubmed
    ..Our study provides important insight into pathogenesis of neurodegenerative diseases associated with cytoskeletal abnormalities. ..
  2. Kim Ha J, Smith J, Macdonald P. oskar mRNA is localized to the posterior pole of the Drosophila oocyte. Cell. 1991;66:23-35 pubmed
    ..In addition, we find that nonsense oskar mutations disrupt osk mRNA localization, while missense oskar mutations do not. ..
  3. Schweder T, Lee K, Lomovskaya O, Matin A. Regulation of Escherichia coli starvation sigma factor (sigma s) by ClpXP protease. J Bacteriol. 1996;178:470-6 pubmed
  4. Wiemer E, Lüers G, Faber K, Wenzel T, Veenhuis M, Subramani S. Isolation and characterization of Pas2p, a peroxisomal membrane protein essential for peroxisome biogenesis in the methylotrophic yeast Pichia pastoris. J Biol Chem. 1996;271:18973-80 pubmed
    ..The role of peroxisomal membrane targeting signals and transmembrane domains in anchoring PMPs to the peroxisomal membrane is discussed...
  5. Withee J, Sen R, Cyert M. Ion tolerance of Saccharomyces cerevisiae lacking the Ca2+/CaM-dependent phosphatase (calcineurin) is improved by mutations in URE2 or PMA1. Genetics. 1998;149:865-78 pubmed
    ..These studies further characterize the roles that URE2 and PMA1 play in regulating intracellular ion homeostasis. ..
  6. Verdecia M, Huang H, Dutil E, Kaiser D, Hunter T, Noel J. Structure of the human anti-apoptotic protein survivin reveals a dimeric arrangement. Nat Struct Biol. 2000;7:602-8 pubmed
  7. Molotkov A, Deltour L, Foglio M, Cuenca A, Duester G. Distinct retinoid metabolic functions for alcohol dehydrogenase genes Adh1 and Adh4 in protection against vitamin A toxicity or deficiency revealed in double null mutant mice. J Biol Chem. 2002;277:13804-11 pubmed
  8. Spruck C, Strohmaier H, Sangfelt O, Müller H, Hubalek M, Muller Holzner E, et al. hCDC4 gene mutations in endometrial cancer. Cancer Res. 2002;62:4535-9 pubmed
    ..Our results show that the hCDC4 gene is mutated in primary human tumors and suggest that it may function as a tumor suppressor in the genesis of many human cancers. ..
  9. Kovarik Z, Radic Z, Berman H, Simeon Rudolf V, Reiner E, Taylor P. Mutant cholinesterases possessing enhanced capacity for reactivation of their phosphonylated conjugates. Biochemistry. 2004;43:3222-9 pubmed
    ..Rates of reactivation reach values sufficient for consideration of mixtures of a mutant enzyme and an oxime as a scavenging strategy in protection and treatment of organophosphate exposure. ..

More Information

Publications544 found, 100 shown here

  1. Persson S, Caffall K, Freshour G, Hilley M, Bauer S, Poindexter P, et al. The Arabidopsis irregular xylem8 mutant is deficient in glucuronoxylan and homogalacturonan, which are essential for secondary cell wall integrity. Plant Cell. 2007;19:237-55 pubmed
  2. Wagner M, Smolka M, de Bruin R, Zhou H, Wittenberg C, Dowdy S. Whi5 regulation by site specific CDK-phosphorylation in Saccharomyces cerevisiae. PLoS ONE. 2009;4:e4300 pubmed publisher
    ..Although these four Whi5 CDK sites do not wholly determine Whi5 nuclear export, they do impact regulation of cell size. Taken together, these observations begin to dissect the regulatory role of specific phosphorylation sites on Whi5. ..
  3. Gokirmak T, Campanale J, Shipp L, Moy G, Tao H, Hamdoun A. Localization and substrate selectivity of sea urchin multidrug (MDR) efflux transporters. J Biol Chem. 2012;287:43876-83 pubmed publisher
    ..This suggests that subtle changes in the primary sequence of transporter drug binding domains could fine-tune substrate specificity through evolution. ..
  4. Reddy G, Xie C, Lindaman L, Coss D. GnRH increases c-Fos half-life contributing to higher FSH? induction. Mol Endocrinol. 2013;27:253-65 pubmed publisher
  5. Joiner W, Friedman E, Hung H, Koh K, Sowcik M, Sehgal A, et al. Genetic and anatomical basis of the barrier separating wakefulness and anesthetic-induced unresponsiveness. PLoS Genet. 2013;9:e1003605 pubmed publisher
    ..We propose that processes selectively contributing to sleep homeostasis and neural inertia may be impaired in pathophysiological conditions such as coma and persistent vegetative states. ..
  6. Mueller J, McGeough M, Pena C, Sivagnanam M. Functional consequences of EpCam mutation in mice and men. Am J Physiol Gastrointest Liver Physiol. 2014;306:G278-88 pubmed publisher
    ..Furthermore, compared with unaffected mice, mutation of Epcam leads to enhanced permeability and intestinal cell migration, uncovering underlying disease mechanisms. ..
  7. Basco R, Segal M, Reed S. Negative regulation of G1 and G2 by S-phase cyclins of Saccharomyces cerevisiae. Mol Cell Biol. 1995;15:5030-42 pubmed
    ..Thus, Clb5 and Clb6 may stabilize S phase by promoting DNA replication while inhibiting other cell cycle activities. ..
  8. Gaits F, Shiozaki K, Russell P. Protein phosphatase 2C acts independently of stress-activated kinase cascade to regulate the stress response in fission yeast. J Biol Chem. 1997;272:17873-9 pubmed
    ..Fourth, high expression of PP2C suppresses Atf1-dependent transcription of a stress-response gene. These studies strongly suggest that PP2C acts downstream of Spc1 kinase in the stress-activated signal transduction pathway. ..
  9. Kanoh J, Russell P. The protein kinase Cdr2, related to Nim1/Cdr1 mitotic inducer, regulates the onset of mitosis in fission yeast. Mol Biol Cell. 1998;9:3321-34 pubmed
    ..Thus, Cdr2 is a novel mitotic control protein that appears to regulate Wee1...
  10. Jo M, Thomas K, Marozkina N, Amin T, Silva C, Parsons S, et al. Dynamic assembly of the urokinase-type plasminogen activator signaling receptor complex determines the mitogenic activity of urokinase-type plasminogen activator. J Biol Chem. 2005;280:17449-57 pubmed
    ..We conclude that expression and assembly of uPAR co-receptors in a specific cell type determines the response to uPA. The EGFR selectively cooperates with uPAR to mediate mitogenesis. ..
  11. Parrish W, Stefan C, Emr S. PtdIns(3)P accumulation in triple lipid-phosphatase-deletion mutants triggers lethal hyperactivation of the Rho1p/Pkc1p cell-integrity MAP kinase pathway. J Cell Sci. 2005;118:5589-601 pubmed
    ..Taken together, the results of this study indicated that aberrant Rho1p/Pkc1p signaling contributes to the lethal effects of PtdIns(3)P accumulation in cells deficient in PI 3-phosphatase activity. ..
  12. Kao Y, Gianni D, Bohl B, Taylor R, Bokoch G. Identification of a conserved Rac-binding site on NADPH oxidases supports a direct GTPase regulatory mechanism. J Biol Chem. 2008;283:12736-46 pubmed publisher
    ..Our data identify a functional Rac interaction site conserved in Rac-dependent Noxs and support a direct regulatory interaction of Rac GTPases to promote activation of these NADPH oxidases. ..
  13. Rowe T, Aridor M, McCaffery J, Plutner H, Nuoffer C, Balch W. COPII vesicles derived from mammalian endoplasmic reticulum microsomes recruit COPI. J Cell Biol. 1996;135:895-911 pubmed
    ..These results suggest that coat exchange is an early event preceding the targeting of ER-derived vesicles to pre-Golgi intermediates. ..
  14. Gunn T, Miller K, He L, Hyman R, Davis R, Azarani A, et al. The mouse mahogany locus encodes a transmembrane form of human attractin. Nature. 1999;398:152-6 pubmed
    ..These observations provide new insight into the regulation of energy metabolism and indicate a molecular basis for crosstalk between melanocortin-receptor signalling and immune function. ..
  15. Panda S, Hogenesch J, Kay S. Circadian rhythms from flies to human. Nature. 2002;417:329-35 pubmed
    ..To gain the initial insights into circadian mechanisms, researchers turned to genetically tractable model organisms such as Drosophila. ..
  16. Cho H, Tseng T, Kaiserli E, Sullivan S, Christie J, Briggs W. Physiological roles of the light, oxygen, or voltage domains of phototropin 1 and phototropin 2 in Arabidopsis. Plant Physiol. 2007;143:517-29 pubmed
    ..The implications of this mechanism with respect to phototropin function are discussed. ..
  17. Liu C, Mack A, Brustad E, Mills J, Groff D, Smider V, et al. Evolution of proteins with genetically encoded "chemical warheads". J Am Chem Soc. 2009;131:9616-7 pubmed publisher
  18. He J, Shi L, Truong L, Lu C, Razavian N, Li Y, et al. Rad50 zinc hook is important for the Mre11 complex to bind chromosomal DNA double-stranded breaks and initiate various DNA damage responses. J Biol Chem. 2012;287:31747-56 pubmed publisher
  19. Clarke D, Mondesert G, Segal M, Bertolaet B, Jensen S, Wolff M, et al. Dosage suppressors of pds1 implicate ubiquitin-associated domains in checkpoint control. Mol Cell Biol. 2001;21:1997-2007 pubmed
  20. Das R, Karanicolas J, Baker D. Atomic accuracy in predicting and designing noncanonical RNA structure. Nat Methods. 2010;7:291-4 pubmed publisher
    ..Sequence redesign calculations recovered native bases at 65% of residues engaged in noncanonical interactions, and we experimentally validated mutations predicted to stabilize a signal recognition particle domain. ..
  21. Manabe Y, Verhertbruggen Y, Gille S, Harholt J, Chong S, Pawar P, et al. Reduced Wall Acetylation proteins play vital and distinct roles in cell wall O-acetylation in Arabidopsis. Plant Physiol. 2013;163:1107-17 pubmed publisher
  22. McDowall K, Kaberdin V, Wu S, Cohen S, Lin Chao S. Site-specific RNase E cleavage of oligonucleotides and inhibition by stem-loops. Nature. 1995;374:287-90 pubmed
    ..Modulation of RNase E cleavages by stem-loop regions and to a lesser extent by higher-order structure may explain why this enzyme, which does not have stringent sequence specificity, cleaves complex RNAs at a limited number of sites. ..
  23. Wilson B, Bagnol D, Kaelin C, Ollmann M, Gantz I, Watson S, et al. Physiological and anatomical circuitry between Agouti-related protein and leptin signaling. Endocrinology. 1999;140:2387-97 pubmed
    ..These results suggest that in the fed state, AGRP is normally suppressed by leptin, and that release of this suppression during fasting leads to increased ingestive behavior. ..
  24. Bowman A, Patel King R, Benashski S, McCaffery J, Goldstein L, King S. Drosophila roadblock and Chlamydomonas LC7: a conserved family of dynein-associated proteins involved in axonal transport, flagellar motility, and mitosis. J Cell Biol. 1999;146:165-80 pubmed
    ..We propose that roadblock/LC7 family members may modulate specific dynein functions. ..
  25. Catlett M, Forsburg S. Schizosaccharomyces pombe Rdh54 (TID1) acts with Rhp54 (RAD54) to repair meiotic double-strand breaks. Mol Biol Cell. 2003;14:4707-20 pubmed
    ..pombe meiosis does not result in checkpoint arrest. ..
  26. Lyons D, Pogoda H, Voas M, Woods I, Diamond B, Nix R, et al. erbb3 and erbb2 are essential for schwann cell migration and myelination in zebrafish. Curr Biol. 2005;15:513-24 pubmed
    ..These results provide in vivo evidence that Neuregulin-ErbB signaling is essential for directed Schwann cell migration and demonstrate that this pathway is also required for the onset of myelination in postmigratory Schwann cells. ..
  27. Weng L, Kavaslar N, Ustaszewska A, Doelle H, Schackwitz W, Hebert S, et al. Lack of MEF2A mutations in coronary artery disease. J Clin Invest. 2005;115:1016-20 pubmed
    ..These studies support that MEF2A mutations are not a common cause of CAD in white people and argue strongly against a role for the MEF2A 21-bp deletion in autosomal dominant CAD. ..
  28. Berger M, Krebs P, Crozat K, Li X, Croker B, Siggs O, et al. An Slfn2 mutation causes lymphoid and myeloid immunodeficiency due to loss of immune cell quiescence. Nat Immunol. 2010;11:335-43 pubmed publisher
    ..Our findings identify a physiological role for Slfn2 in the defense against pathogens through the regulation of quiescence in T cells and monocytes. ..
  29. GRANDL J, Kim S, Uzzell V, Bursulaya B, Petrus M, Bandell M, et al. Temperature-induced opening of TRPV1 ion channel is stabilized by the pore domain. Nat Neurosci. 2010;13:708-14 pubmed publisher
    ..We propose that sequential occupancy of short and long open states on activation provides a mechanism for enhancing temperature sensitivity. Our results suggest that the outer pore is important for the heat sensitivity of thermoTRPs. ..
  30. Cho H, Joo N, Wine J. Defective fluid secretion from submucosal glands of nasal turbinates from CFTR-/- and CFTR (?F508/?F508) pigs. PLoS ONE. 2011;6:e24424 pubmed publisher
    ..null piglets, and show unexpected age-dependent differences. Reduced nasal gland fluid secretion may predispose to sinonasal and lung infections...
  31. Messer P, Neher R. Estimating the strength of selective sweeps from deep population diversity data. Genetics. 2012;191:593-605 pubmed publisher
    ..As an example for its use, we apply our estimator to deep sequencing data from human immunodeficiency virus populations. ..
  32. Zhang X, Facette M, Humphries J, Shen Z, Park Y, Sutimantanapi D, et al. Identification of PAN2 by quantitative proteomics as a leucine-rich repeat-receptor-like kinase acting upstream of PAN1 to polarize cell division in maize. Plant Cell. 2012;24:4577-89 pubmed publisher
    ..Together, these results place PAN2 at the top of a cascade of events promoting the polarization of SMC divisions, potentially functioning to perceive or amplify GMC-derived polarizing cues. ..
  33. Chesi A, Staahl B, Jovicic A, Couthouis J, Fasolino M, Raphael A, et al. Exome sequencing to identify de novo mutations in sporadic ALS trios. Nat Neurosci. 2013;16:851-5 pubmed publisher
    ..These findings expand our understanding of the ALS genetic landscape and provide a resource for future studies into the pathogenic mechanisms contributing to sporadic ALS. ..
  34. Razinkov I, Baumgartner B, Bennett M, Tsimring L, Hasty J. Measuring competitive fitness in dynamic environments. J Phys Chem B. 2013;117:13175-81 pubmed publisher
    ..Our results illustrate the selective power of environmental fluctuations on seemingly slight phenotypic differences in cellular response dynamics and underscore the importance of dynamic processes in the evolution of species. ..
  35. Koshiol J, Gao Y, Dean M, Egner P, Nepal C, Jones K, et al. Association of Aflatoxin and Gallbladder Cancer. Gastroenterology. 2017;153:488-494.e1 pubmed publisher
    ..If our findings are verified, reducing aflatoxin exposure might reduce the incidence of gallbladder cancer. ..
  36. Yanofsky C, Horn V, Gollnick P. Physiological studies of tryptophan transport and tryptophanase operon induction in Escherichia coli. J Bacteriol. 1991;173:6009-17 pubmed
    ..Our studies assign roles to the three permeases in tryptophan transport under different physiological conditions. ..
  37. Falcone D, Gibson S, Lemieux B, Somerville C. Identification of a gene that complements an Arabidopsis mutant deficient in chloroplast omega 6 desaturase activity. Plant Physiol. 1994;106:1453-9 pubmed
    ..The fad6 gene exhibited less sequence homology to any known higher plant desaturase, including an endoplasmic reticulum-localized omega 6 desaturase corresponding to the Arabidopsis fad2 gene. ..
  38. Beutler E, Gelbart T. Glucocerebrosidase (Gaucher disease). Hum Mutat. 1996;8:207-13 pubmed
    ..Types II (MIM 230900) and III (MIM 2310000), the acute infantile and juvenile forms, respectively, of Gaucher disease, are characterized by the fact that the central nervous system is affected. ..
  39. Luan P, Balch W, Emr S, Burd C. Molecular dissection of guanine nucleotide dissociation inhibitor function in vivo. Rab-independent binding to membranes and role of Rab recycling factors. J Biol Chem. 1999;274:14806-17 pubmed
  40. Woodring P, Hunter T, Wang J. Mitotic phosphorylation rescues Abl from F-actin-mediated inhibition. J Biol Chem. 2005;280:10318-25 pubmed
    ..These results suggest that F-actin may reinforce the autoinhibitory interactions to regulate Abl kinase and that inhibition can be relieved through phosphorylation and/or protein interactions with the Abl PRL region. ..
  41. Xiong Z, Cheng Z, Zhang X, Patel M, Wu J, Gambhir S, et al. Imaging chemically modified adenovirus for targeting tumors expressing integrin alphavbeta3 in living mice with mutant herpes simplex virus type 1 thymidine kinase PET reporter gene. J Nucl Med. 2006;47:130-9 pubmed
    ..Noninvasive PET and (18)F-FHBG are able to monitor in vivo transfectivity of both Adtk and RGD-PEG-Adtk vectors in the liver and tumors after intravenous injection. ..
  42. Deuschle K, Chaudhuri B, Okumoto S, Lager I, Lalonde S, Frommer W. Rapid metabolism of glucose detected with FRET glucose nanosensors in epidermal cells and intact roots of Arabidopsis RNA-silencing mutants. Plant Cell. 2006;18:2314-25 pubmed
  43. Bessler J, Reddy K, Hayashi M, Hodgkin J, Villeneuve A. A role for Caenorhabditis elegans chromatin-associated protein HIM-17 in the proliferation vs. meiotic entry decision. Genetics. 2007;175:2029-37 pubmed
  44. Jiang L, Kimura R, Miao Z, Silverman A, Ren G, Liu H, et al. Evaluation of a (64)Cu-labeled cystine-knot peptide based on agouti-related protein for PET of tumors expressing alphavbeta3 integrin. J Nucl Med. 2010;51:251-258 pubmed publisher
  45. Concepcion D, Johannes F, Lo Y, Yao J, Fong J, Hamilton B. Modifier genes for mouse phosphatidylinositol transfer protein ? (vibrator) that bypass juvenile lethality. Genetics. 2011;187:1185-91 pubmed publisher
    ..Genotype-specific survival analysis predicts molecular heterosis at Mvb3. These results indicate a mechanism of suppression that bypasses a quantitative requirement for PITP? function. ..
  46. Callahan B, Neher R, Bachtrog D, Andolfatto P, Shraiman B. Correlated evolution of nearby residues in Drosophilid proteins. PLoS Genet. 2011;7:e1001315 pubmed publisher
  47. Rabinovitch M. Molecular pathogenesis of pulmonary arterial hypertension. J Clin Invest. 2012;122:4306-13 pubmed publisher
    ..Here, we describe emerging therapies based on preclinical studies that address these converging pathways. ..
  48. Chaillon A, Nakazawa M, Wertheim J, Little S, Smith D, Mehta S, et al. No Substantial Evidence for Sexual Transmission of Minority HIV Drug Resistance Mutations in Men Who Have Sex with Men. J Virol. 2017;91: pubmed publisher
  49. Zhulin I, Rowsell E, Johnson M, Taylor B. Glycerol elicits energy taxis of Escherichia coli and Salmonella typhimurium. J Bacteriol. 1997;179:3196-201 pubmed
    ..We propose that positive chemotaxis to glycerol in E. coli and S. typhimurium is an example of energy taxis mediated via a signal transduction pathway that responds to changes in the cellular energy level. ..
  50. Hu Q, Fink E, Hong Y, Wang C, Grant C, Elder J. Fine definition of the CXCR4-binding region on the V3 loop of feline immunodeficiency virus surface glycoprotein. PLoS ONE. 2010;5:e10689 pubmed publisher
    ..Since certain strains of HIV-1 also use CXCR4 as the entry receptor, the findings make the feline model attractive for development of broad-based entry antagonists and for study of the molecular mechanism of receptor/virus interactions...
  51. Fu T, Leachman S, Wilson N, Smith F, SCHWARTZ M, Tang J. Genotype-phenotype correlations among pachyonychia congenita patients with K16 mutations. J Invest Dermatol. 2011;131:1025-8 pubmed publisher
    ..Knowledge of the exact gene defect is likely to assist in predicting disease prognosis and clinical management. ..
  52. Prudden J, Perry J, Nie M, Vashisht A, Arvai A, Hitomi C, et al. DNA repair and global sumoylation are regulated by distinct Ubc9 noncovalent complexes. Mol Cell Biol. 2011;31:2299-310 pubmed publisher
    ..Overall, we determine that, unexpectedly, Ubc9 noncovalent partner choice dictates the role of sumoylation in distinct cellular pathways. ..
  53. Sage J, Ventura A. miR than meets the eye. Genes Dev. 2011;25:1663-7 pubmed publisher
    ..These experiments identify the RB/miR-17~92/p21 axis as a critical regulator of retinoblastoma tumorigenesis and potentially many other cancers. ..
  54. Chambers M, Lightfield K, Schneider D. How the fly balances its ability to combat different pathogens. PLoS Pathog. 2012;8:e1002970 pubmed publisher
    ..In addition, increased phagocytic activity is beneficial during S. pneumoniae infection but detrimental during L. monocytogenes infection, demonstrating an inherent trade-off in the immune response. ..
  55. Chang J, Zhou Y, Hu X, Lam L, Henry C, Green E, et al. The molecular mechanism of a cis-regulatory adaptation in yeast. PLoS Genet. 2013;9:e1003813 pubmed publisher
    ..These results provide a detailed view of the molecular mechanism of a cis-regulatory adaptation, and underscore the importance of this view to our understanding of evolution at the molecular level. ..
  56. Paz Ares L, Hirsh V, Zhang L, De Marinis F, Yang J, Wakelee H, et al. Monotherapy Administration of Sorafenib in Patients With Non-Small Cell Lung Cancer (MISSION) Trial: A Phase III, Multicenter, Placebo-Controlled Trial of Sorafenib in Patients with Relapsed or Refractory Predominantly Nonsquamous Non-Small-Cell Lung. J Thorac Oncol. 2015;10:1745-53 pubmed publisher
    ..Third-/fourth-line sorafenib therapy did not significantly increase OS in patients with relapsed/refractory NSCLC, despite significantly increasing PFS. ..
  57. Liscum E, Briggs W. Mutations in the NPH1 locus of Arabidopsis disrupt the perception of phototropic stimuli. Plant Cell. 1995;7:473-85 pubmed
  58. Sawka Verhelle D, Escoubet Lozach L, Fong A, Hester K, Herzig S, Lebrun P, et al. PE-1/METS, an antiproliferative Ets repressor factor, is induced by CREB-1/CREM-1 during macrophage differentiation. J Biol Chem. 2004;279:17772-84 pubmed
    ..Inhibition of CREB function also results in reduced expression of CD54 and impaired cell adhesion. Taken together, these findings reveal new roles of CREB-1/CREM-1 as regulators of macrophage differentiation. ..
  59. Huang H, Haddad G. Drosophila dMRP4 regulates responsiveness to O2 deprivation and development under hypoxia. Physiol Genomics. 2007;29:260-6 pubmed
    ..Thus, our data suggest novel roles for MRP in vivo: 1) dMRP4 regulates the sensitivity to acute or chronic O(2) deprivation, and 2) dMRP expression in neurons is sufficient to induce the sensitivity to O(2) in the whole organism. ..
  60. Mumbach M, Satpathy A, Boyle E, Dai C, Gowen B, Cho S, et al. Enhancer connectome in primary human cells identifies target genes of disease-associated DNA elements. Nat Genet. 2017;49:1602-1612 pubmed publisher
    ..The majority of disease-associated enhancers contact genes beyond the nearest gene in the linear genome, leading to a fourfold increase in the number of potential target genes for autoimmune and cardiovascular diseases. ..
  61. Berg M, Guevara Aguirre J, Rosenbloom A, Rosenfeld R, Francke U. Mutation creating a new splice site in the growth hormone receptor genes of 37 Ecuadorean patients with Laron syndrome. Hum Mutat. 1992;1:24-32 pubmed
  62. Beutler E, Gelbart T, West C. Identification of six new Gaucher disease mutations. Genomics. 1993;15:203-5 pubmed
    ..All but one of these were found in single families. The 1604A mutation, however, was observed in four unrelated individuals. ..
  63. Segal M, Clarke D, Reed S. Clb5-associated kinase activity is required early in the spindle pathway for correct preanaphase nuclear positioning in Saccharomyces cerevisiae. J Cell Biol. 1998;143:135-45 pubmed
    ..Nevertheless, lethality of cdc28-4 clb5 diploids was not rescued by CLB2 or CLB4 overexpression, indicating a specificity of Clb5 function beyond temporality of expression. ..
  64. Dodd D, Giddings T, Kirkegaard K. Poliovirus 3A protein limits interleukin-6 (IL-6), IL-8, and beta interferon secretion during viral infection. J Virol. 2001;75:8158-65 pubmed
  65. Aoyagi M, Arvai A, Ghosh S, Stuehr D, Tainer J, Getzoff E. Structures of tetrahydrobiopterin binding-site mutants of inducible nitric oxide synthase oxygenase dimer and implicated roles of Trp457. Biochemistry. 2001;40:12826-32 pubmed
  66. Zajonc D, Cantu C, Mattner J, Zhou D, Savage P, Bendelac A, et al. Structure and function of a potent agonist for the semi-invariant natural killer T cell receptor. Nat Immunol. 2005;6:810-8 pubmed
  67. Rhee S, Kantor R, Katzenstein D, Camacho R, Morris L, Sirivichayakul S, et al. HIV-1 pol mutation frequency by subtype and treatment experience: extension of the HIVseq program to seven non-B subtypes. AIDS. 2006;20:643-51 pubmed
  68. Mu T, Fowler D, Kelly J. Partial restoration of mutant enzyme homeostasis in three distinct lysosomal storage disease cell lines by altering calcium homeostasis. PLoS Biol. 2008;6:e26 pubmed publisher
    ..Manipulation of calcium homeostasis may represent a general strategy to restore protein homeostasis in multiple LSDs. However, further efforts are required to demonstrate clinical utility and safety. ..
  69. Paredez A, Persson S, Ehrhardt D, Somerville C. Genetic evidence that cellulose synthase activity influences microtubule cortical array organization. Plant Physiol. 2008;147:1723-34 pubmed publisher
  70. Gibbs D, Cideciyan A, Jacobson S, Williams D. Retinal pigment epithelium defects in humans and mice with mutations in MYO7A: imaging melanosome-specific autofluorescence. Invest Ophthalmol Vis Sci. 2009;50:4386-93 pubmed publisher
  71. Peng A, Belyantseva I, Hsu P, Friedman T, Heller S. Twinfilin 2 regulates actin filament lengths in cochlear stereocilia. J Neurosci. 2009;29:15083-8 pubmed publisher
  72. Belkhadir Y, Durbak A, Wierzba M, Schmitz R, Aguirre A, Michel R, et al. Intragenic suppression of a trafficking-defective brassinosteroid receptor mutant in Arabidopsis. Genetics. 2010;185:1283-96 pubmed publisher
    ..Collectively, our results point toward a model in which bri1-R1 compensates for the protein-folding abnormalities caused by bri1-5, restoring accumulation of the receptor and its delivery to the cell surface. ..
  73. Zerboni L, Sen N, Oliver S, Arvin A. Molecular mechanisms of varicella zoster virus pathogenesis. Nat Rev Microbiol. 2014;12:197-210 pubmed publisher
    ..In this Review, we discuss how these models have improved our understanding of VZV pathogenesis. ..
  74. Garcia J, Huang M, Medeiros B, Mitchell B. Selective Toxicity of Investigational Ixazomib for Human Leukemia Cells Expressing Mutant Cytoplasmic NPM1: Role of Reactive Oxygen Species. Clin Cancer Res. 2016;22:1978-88 pubmed publisher
    ..These data suggest that intracellular determinants of antioxidant responses may be good predictors of therapeutic response to ixazomib. ..
  75. Cheng Y, Kaiser D. dsg, a gene required for Myxococcus development, is necessary for cell viability. J Bacteriol. 1989;171:3727-31 pubmed
  76. Roesser J, Nakamura Y, Yanofsky C. Regulation of basal level expression of the tryptophan operon of Escherichia coli. J Biol Chem. 1989;264:12284-8 pubmed
  77. Flaherty K, Wilbanks S, DeLuca Flaherty C, McKay D. Structural basis of the 70-kilodalton heat shock cognate protein ATP hydrolytic activity. II. Structure of the active site with ADP or ATP bound to wild type and mutant ATPase fragment. J Biol Chem. 1994;269:12899-907 pubmed
  78. Schmitt M, Clayton D. Nuclear RNase MRP is required for correct processing of pre-5.8S rRNA in Saccharomyces cerevisiae. Mol Cell Biol. 1993;13:7935-41 pubmed
    ..The data also indicate a requirement for having the smaller form of 5.8S rRNA, and they argue for processing at the B1 position being composed of two separate cleavage events catalyzed by two different activities. ..
  79. Simske J, Kaech S, Harp S, Kim S. LET-23 receptor localization by the cell junction protein LIN-7 during C. elegans vulval induction. Cell. 1996;85:195-204 pubmed
    ..These results suggest that proper localization of LET-23 receptor to the Pn.p cell junctions is required for signaling activity. ..
  80. Yankovskaya V, Sablin S, Ramsay R, Singer T, Ackrell B, Cecchini G, et al. Inhibitor probes of the quinone binding sites of mammalian complex II and Escherichia coli fumarate reductase. J Biol Chem. 1996;271:21020-4 pubmed
    ..The results were analyzed in terms of the model of these dual sites of quinone binding in fumarate reductase, as well as the nature of the substituent in the 2-position of the dinitrophenol inhibitors. ..
  81. Ku N, Wright T, Terrault N, Gish R, Omary M. Mutation of human keratin 18 in association with cryptogenic cirrhosis. J Clin Invest. 1997;99:19-23 pubmed
    ..Our results suggest that mutations in K18 may be predispose to, or result in cryptogenic cirrhosis in humans. ..
  82. Rhind N, Russell P. Roles of the mitotic inhibitors Wee1 and Mik1 in the G(2) DNA damage and replication checkpoints. Mol Cell Biol. 2001;21:1499-508 pubmed
    ..Mik1 appears to have two roles in the DNA damage checkpoint; one in the establishment of the checkpoint and another in its maintenance. In contrast, Wee1 does not appear to be involved in the establishment of either checkpoint. ..
  83. Nakamura T, Moser B, Russell P. Telomere binding of checkpoint sensor and DNA repair proteins contributes to maintenance of functional fission yeast telomeres. Genetics. 2002;161:1437-52 pubmed
    ..Thus, checkpoint sensor and DNA repair proteins contribute to telomere maintenance and protection through their association with telomeres. ..
  84. McKinney M, Cravatt B. Evidence for distinct roles in catalysis for residues of the serine-serine-lysine catalytic triad of fatty acid amide hydrolase. J Biol Chem. 2003;278:37393-9 pubmed
  85. Hartman A, Daniel B, Kurian A, Mills M, Nowels K, Dirbas F, et al. Breast magnetic resonance image screening and ductal lavage in women at high genetic risk for breast carcinoma. Cancer. 2004;100:479-89 pubmed
    ..A larger screening trial is needed to determine which subgroups of high-risk women will benefit and whether the identification of malignant and high-risk lesions at an early stage will impact breast carcinoma incidence and mortality. ..
  86. Beutler E, Beutler L, West C. Mutations in the gene encoding cytosolic beta-glucosidase in Gaucher disease. J Lab Clin Med. 2004;144:65-8 pubmed
    ..Six of the possible 16 haplotypes were found, and none was over- or underrepresented among patients with the severe Gaucher disease phenotypes compared with those from patients with mild phenotypes. ..
  87. Koronyo Hamaoui M, Ko M, Koronyo Y, Azoulay D, Seksenyan A, Kunis G, et al. Attenuation of AD-like neuropathology by harnessing peripheral immune cells: local elevation of IL-10 and MMP-9. J Neurochem. 2009;111:1409-24 pubmed publisher
  88. Tea J, Chihara T, Luo L. Histone deacetylase Rpd3 regulates olfactory projection neuron dendrite targeting via the transcription factor Prospero. J Neurosci. 2010;30:9939-46 pubmed publisher
    ..Our study suggests a specific function for the general chromatin remodeling factor Rpd3 in regulating dendrite targeting in neurons, largely through the postmitotic action of the Pros transcription factor. ..
  89. Cavero S, Limbo O, Russell P. Critical functions of Rpa3/Ssb3 in S-phase DNA damage responses in fission yeast. PLoS Genet. 2010;6:e1001138 pubmed publisher
    ..From these studies we propose that Ssb3 plays a critical role in mediating RPA functions that are required for repair or tolerance of DNA lesions in S-phase. Rpa3 orthologs in humans and other species may have a similar function. ..
  90. Weinstein J, Zeng X, Chien Y, Quake S. Correlation of gene expression and genome mutation in single B-cells. PLoS ONE. 2013;8:e67624 pubmed publisher
  91. Andrews L, Fenn T, Herschlag D. Ground state destabilization by anionic nucleophiles contributes to the activity of phosphoryl transfer enzymes. PLoS Biol. 2013;11:e1001599 pubmed publisher
  92. Helsten T, Elkin S, Arthur E, Tomson B, Carter J, Kurzrock R. The FGFR Landscape in Cancer: Analysis of 4,853 Tumors by Next-Generation Sequencing. Clin Cancer Res. 2016;22:259-67 pubmed publisher
    ..FGFR aberrations are common in a wide variety of cancers, with the majority being gene amplifications or activating mutations. These data suggest that FGFR inhibition could be an important therapeutic option across multiple tumor types. ..