Experts and Doctors on mutation in Minneapolis, Minnesota, United States

Summary

Locale: Minneapolis, Minnesota, United States
Topic: mutation

Top Publications

  1. Jonsson J, Aronovich E, Braun S, Whitley C. Molecular diagnosis of mucopolysaccharidosis type II (Hunter syndrome) by automated sequencing and computer-assisted interpretation: toward mutation mapping of the iduronate-2-sulfatase gene. Am J Hum Genet. 1995;56:597-607 pubmed
    ..A minor population of the IDS message was processed by using this cryptic splice site; however, no correctly spliced message was detected in leukocytes from this patient. The mutational topology of the IDS gene is presented. ..
  2. Vanderpool C, Armstrong S. Heme-responsive transcriptional activation of Bordetella bhu genes. J Bacteriol. 2003;185:909-17 pubmed
    ..Furthermore, bhuR was required for heme-inducible bhu gene activation, supporting the hypothesis that positive regulation of bhuRSTUV occurs by a surface signaling mechanism involving the heme-iron receptor BhuR...
  3. Albert R, Chiu Y, Othmer H. Dynamic receptor team formation can explain the high signal transduction gain in Escherichia coli. Biophys J. 2004;86:2650-9 pubmed
    ..Only recently has a source of gain in the signal transduction network been identified experimentally, and here we present a mathematical model based on dynamic assembly of receptor teams that can explain this observation. ..
  4. Wang B, Yurecko R, Dedhar S, Cleary P. Integrin-linked kinase is an essential link between integrins and uptake of bacterial pathogens by epithelial cells. Cell Microbiol. 2006;8:257-66 pubmed
    ..This study suggests that bacterial pathogens evolved different molecules and strategies to exploit the host integrin signalling pathway for their survival. ..
  5. Zeng Y, Sankala H, Zhang X, Graves P. Phosphorylation of Argonaute 2 at serine-387 facilitates its localization to processing bodies. Biochem J. 2008;413:429-36 pubmed publisher
    ..These results suggest a potential regulatory mechanism for RNA silencing acting through Ago2 serine-387 phosphorylation mediated by the p38 MAPK pathway. ..
  6. Zhang F, Voytas D. Targeted mutagenesis in Arabidopsis using zinc-finger nucleases. Methods Mol Biol. 2011;701:167-77 pubmed publisher
    ..ZFNs make it possible to expand the range of Arabidopsis mutants available for study and to create mutations in genes missed by random mutagenesis approaches, such as those using T-DNA, transposons, or chemical mutagens. ..
  7. Hecht S. Lung carcinogenesis by tobacco smoke. Int J Cancer. 2012;131:2724-32 pubmed publisher
    ..37 million deaths per year. ..
  8. Gustavsson M, Verardi R, Mullen D, Mote K, Traaseth N, Gopinath T, et al. Allosteric regulation of SERCA by phosphorylation-mediated conformational shift of phospholamban. Proc Natl Acad Sci U S A. 2013;110:17338-43 pubmed publisher
    ..This model represents a paradigm shift in our understanding of SERCA regulation by posttranslational phosphorylation and suggests strategies for designing innovative therapeutic approaches to enhance cardiac muscle contractility...
  9. Kile A, Koepp D. Activation of the S-phase checkpoint inhibits degradation of the F-box protein Dia2. Mol Cell Biol. 2010;30:160-71 pubmed publisher
    ..Together, our results suggest that Dia2 protein turnover does not involve an autocatalytic mechanism and that Dia2 proteolysis is inhibited by activation of the replication stress response. ..

More Information

Publications281 found, 100 shown here

  1. Tuchman M, Plante R, McCann M, Qureshi A. Seven new mutations in the human ornithine transcarbamylase gene. Hum Mutat. 1994;4:57-60 pubmed
  2. Mobley J, Ennis E, Shimizu Y. Isolation and characterization of cell lines with genetically distinct mutations downstream of protein kinase C that result in defective activation-dependent regulation of T cell integrin function. J Immunol. 1996;156:948-56 pubmed
  3. Oetting W. New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene. Hum Mutat. 2002;19:85-92 pubmed
    ..Mutation and polymorphism data on this gene is available from the International Albinism Center - Albinism Database web site (http://www.cbc.umn.edu/tad)...
  4. De Larco J, Wuertz B, Furcht L. The potential role of neutrophils in promoting the metastatic phenotype of tumors releasing interleukin-8. Clin Cancer Res. 2004;10:4895-900 pubmed
    ..Possible targets are also presented for the development of therapies to attenuate the effects of the ectopic IL-8 release by tumor cells. ..
  5. Tsatsos N, Davies M, O Callaghan B, Towle H. Identification and function of phosphorylation in the glucose-regulated transcription factor ChREBP. Biochem J. 2008;411:261-70 pubmed publisher
    ..Together, these data suggest that ChREBP activity is regulated by complex multisite phosphorylation patterns involving its N-terminal regulatory region. ..
  6. Juhasz G, Neufeld T. Drosophila Atg7: required for stress resistance, longevity and neuronal homeostasis, but not for metamorphosis. Autophagy. 2008;4:357-8 pubmed
    ..These results suggest that in Drosophila, normal levels of autophagy may play a more important role in the homeostasis of certain terminally differentiated cells and stress survival than during development. ..
  7. Gale C, Leonard M, Finley K, Christensen L, McClellan M, Abbey D, et al. SLA2 mutations cause SWE1-mediated cell cycle phenotypes in Candida albicans and Saccharomyces cerevisiae. Microbiology. 2009;155:3847-59 pubmed publisher
    ..Furthermore, Swe1 contributed to virulence in a mouse model of disseminated candidiasis, implying a role for the morphogenesis checkpoint during the pathogenesis of C. albicans infections...
  8. Davis J, Metzger J. Combinatorial effects of double cardiomyopathy mutant alleles in rodent myocytes: a predictive cellular model of myofilament dysregulation in disease. PLoS ONE. 2010;5:e9140 pubmed publisher
  9. Peterson A, O Connor M. You're going to need a bigger (glass bottom) boat. Sci Signal. 2012;5:pe14 pubmed publisher
    ..However, given the diversity of potential furin processing sites and prodomain functions, direct experimentation will be required to determine whether production of active jumbo ligands is a general feature of TGF-? superfamily members. ..
  10. Breunig A, Lee M, Miller B, Binstadt B, Anderson M, Montezuma S. Autoimmune retinopathy in a patient with autoimmune polyendocrine syndrome type I. Ocul Immunol Inflamm. 2013;21:153-7 pubmed publisher
    ..There are a limited number of cases linking autoimmune retinopathy with a mutation in the AIRE gene. Further research is needed to find more effective treatment and to prevent tissue damage. ..
  11. Andronesi O, Loebel F, Bogner W, Marjańska M, Vander Heiden M, Iafrate A, et al. Treatment Response Assessment in IDH-Mutant Glioma Patients by Noninvasive 3D Functional Spectroscopic Mapping of 2-Hydroxyglutarate. Clin Cancer Res. 2016;22:1632-41 pubmed publisher
    ..Our results indicate that quantitative in vivo 2HG imaging may be used for precision medicine and early response assessment in clinical trials of therapies targeting IDH-mutant gliomas. ..
  12. Kamimura K, Koyama T, Habuchi H, Ueda R, Masu M, Kimata K, et al. Specific and flexible roles of heparan sulfate modifications in Drosophila FGF signaling. J Cell Biol. 2006;174:773-8 pubmed
    ..These findings suggest that the overall sulfation level is more important than strictly defined HS fine structures for FGF signaling in some developmental contexts. ..
  13. Petzold A, Balciunas D, Sivasubbu S, Clark K, Bedell V, Westcot S, et al. Nicotine response genetics in the zebrafish. Proc Natl Acad Sci U S A. 2009;106:18662-7 pubmed publisher
  14. Sun P, Loh H. Transcriptional regulation of mouse delta-opioid receptor gene. Ikaros-2 and upstream stimulatory factor synergize in trans-activating mouse delta-opioid receptor gene in T cells. J Biol Chem. 2003;278:2304-8 pubmed
    ..Furthermore, we have demonstrated that Ik-2 and upstream stimulatory factor synergize in trans-activating the dor promoter via the putative Ik-binding site and the E box, respectively. ..
  15. Ricke R, Bielinsky A. A conserved Hsp10-like domain in Mcm10 is required to stabilize the catalytic subunit of DNA polymerase-alpha in budding yeast. J Biol Chem. 2006;281:18414-25 pubmed
    ..The high degree of evolutionary conservation of this domain implies that stabilizing Cdc17 may be a conserved function of Mcm10. ..
  16. Oppegard L, Hamann B, Streck K, Ellis K, Fiedler H, Khodursky A, et al. In vivo and in vitro patterns of the activity of simocyclinone D8, an angucyclinone antibiotic from Streptomyces antibioticus. Antimicrob Agents Chemother. 2009;53:2110-9 pubmed publisher
  17. Otto N, McDowell W, Dickey D, Potter L. A Glutamate-Substituted Mutant Mimics the Phosphorylated and Active Form of Guanylyl Cyclase-A. Mol Pharmacol. 2017;92:67-74 pubmed publisher
  18. Sperduto P, Jiang W, Brown P, Braunstein S, Sneed P, Wattson D, et al. The Prognostic Value of BRAF, C-KIT, and NRAS Mutations in Melanoma Patients With Brain Metastases. Int J Radiat Oncol Biol Phys. 2017;98:1069-1077 pubmed publisher
    ..For melanoma patients with brain metastases, BRAF-positive patients survive longer than BRAF-negative patients and overall survival has improved from 1985-2005 to 2006-2015. ..
  19. Oetting W, Gardner J, Fryer J, Ching A, Durham Pierre D, King R, et al. Mutations of the human P gene associated with Type II oculocutaneous albinism (OCA2). Mutations in brief no. 205. Online. Hum Mutat. 1998;12:434 pubmed
    ..Further mutational analysis is needed to help define the critical functional domains of the P protein and to allow a definitive diagnosis of OCA2...
  20. Rathore A, Carpenter M, Demir O, Ikeda T, Li M, Shaban N, et al. The local dinucleotide preference of APOBEC3G can be altered from 5'-CC to 5'-TC by a single amino acid substitution. J Mol Biol. 2013;425:4442-54 pubmed publisher
  21. Fowler S, Chiang A, Savjani R, Larson M, Sherman M, Schuler D, et al. Genetic modulation of soluble A? rescues cognitive and synaptic impairment in a mouse model of Alzheimer's disease. J Neurosci. 2014;34:7871-85 pubmed publisher
  22. Ikeda T, Houtz E, LaPorte D. Isocitrate dehydrogenase kinase/phosphatase: identification of mutations which selectively inhibit phosphatase activity. J Bacteriol. 1992;174:1414-6 pubmed
    ..These mutations yield amino acid substitutions within a 113-residue region of this 578-residue protein. These mutations may define a regulatory domain of this protein. ..
  23. Yuan C, Berscheit H, Huang A. Identification of an amyloidogenic region on keratoepithelin via synthetic peptides. FEBS Lett. 2007;581:241-7 pubmed
    ..Roles of these intrinsically amyloidogenic foci in abnormal KE aggregations and amyloid deposits of stromal corneal dystrophies await further investigation. ..
  24. Ghosh G, Li G, Myung K, Hendrickson E. The lethality of Ku86 (XRCC5) loss-of-function mutations in human cells is independent of p53 (TP53). Radiat Res. 2007;167:66-79 pubmed
    ..These results suggest that Ku86 performs an essential role in telomere maintenance in human cells. ..
  25. Hecht S. Progress and challenges in selected areas of tobacco carcinogenesis. Chem Res Toxicol. 2008;21:160-71 pubmed
    ..It is hoped that a better understanding of mechanisms of tobacco-induced cancer will lead to new and useful approaches for the prevention of lung cancer and other cancers caused by tobacco use. ..
  26. Paparella M, Djalilian H. Etiology, pathophysiology of symptoms, and pathogenesis of Meniere's disease. Otolaryngol Clin North Am. 2002;35:529-45, vi pubmed
    ..Various factors associated with the phenomenon of hydrops include functional or anatomic obstruction of endolymphatic flow, malabsorption of endolymph, genetic anomalies, vasodilation, allergy, viral infection, and autoimmunity...
  27. Jónsson S, Haché G, Stenglein M, Fahrenkrug S, Andresdottir V, Harris R. Evolutionarily conserved and non-conserved retrovirus restriction activities of artiodactyl APOBEC3F proteins. Nucleic Acids Res. 2006;34:5683-94 pubmed
    ..Together, these studies indicate that some properties of the mammal-specific, APOBEC3-dependent retroelement restriction system are necessary and conserved, but others are simultaneously modular and highly adaptable...
  28. Kelly M, Jauert P, Jensen L, Chan C, Truong C, Kirkpatrick D. Zinc regulates the stability of repetitive minisatellite DNA tracts during stationary phase. Genetics. 2007;177:2469-79 pubmed
    ..We describe possible models by which zinc can influence minisatellite stability. Our findings directly implicate zinc homeostasis in the maintenance of genomic stability during stationary phase. ..
  29. Oetting W. Albinism. Curr Opin Pediatr. 1999;11:565-71 pubmed
    ..Analysis of mutations in these seven genes has revealed that the phenotypic spectrum associated with albinism is broad, making molecular analysis an important part in the accurate diagnosis of this disease...
  30. Plagemann P, Chen Z, Li K. Replication competition between lactate dehydrogenase-elevating virus quasispecies in mice. Implications for quasispecies selection and evolution. Arch Virol. 2001;146:1283-96 pubmed
    ..LDV-P and LDV-vx are genetically highly stable and thus seem to have achieved evolutionary stasis with optimum ability to establish viremic persistent infections of mice that are unimpeded by the host immune responses. ..
  31. Jenkins Kruchten A, Bennaars Eiden A, Ross J, Shen W, Kraemer F, Bernlohr D. Fatty acid-binding protein-hormone-sensitive lipase interaction. Fatty acid dependence on binding. J Biol Chem. 2003;278:47636-43 pubmed
    ..These results suggest that binding and activation of HSL by FABPs are separate and distinct functions and that HSL contains a site for fatty acid binding that allows for FABP association. ..
  32. Emerson J, Wagner M, Reynolds M, Que L, Sadowsky M, Wackett L. The role of histidine 200 in MndD, the Mn(II)-dependent 3,4-dihydroxyphenylacetate 2,3-dioxygenase from Arthrobacter globiformis CM-2, a site-directed mutagenesis study. J Biol Inorg Chem. 2005;10:751-60 pubmed
    ..Spectroscopic observations, including unique low-field EPR signals found when DHPA and 4-NC are bound to the Mn(II) center of MndD, are discussed and their relationship to dioxygen activation catalyzed in MndD is explored. ..
  33. Stenglein M, Harris R. APOBEC3B and APOBEC3F inhibit L1 retrotransposition by a DNA deamination-independent mechanism. J Biol Chem. 2006;281:16837-41 pubmed
    ..A particularly high level of APOBEC3F protein in human testes and an inverse correlation between L1 activity and APOBEC3 gene number suggest the relevance of this mechanism to mammals. ..
  34. Vallera D, Oh S, Chen H, Shu Y, Frankel A. Bioengineering a unique deimmunized bispecific targeted toxin that simultaneously recognizes human CD22 and CD19 receptors in a mouse model of B-cell metastases. Mol Cancer Ther. 2010;9:1872-83 pubmed publisher
    ..Because 2219KDEL7mut immunogenicity was significantly reduced and the drug was highly effective in vivo, we can now give multiple drug treatments with targeted toxins in future clinical trials. ..
  35. Wu K, Peng G, Wilken M, Geraghty R, Li F. Mechanisms of host receptor adaptation by severe acute respiratory syndrome coronavirus. J Biol Chem. 2012;287:8904-11 pubmed publisher
    ..These results not only illustrate the detailed mechanisms of host receptor adaptation by SARS-CoV but also provide a molecular and structural basis for tracking future SARS-CoV evolution in animals. ..
  36. Curtin S, Michno J, Campbell B, Gil Humanes J, Mathioni S, Hammond R, et al. MicroRNA Maturation and MicroRNA Target Gene Expression Regulation Are Severely Disrupted in Soybean dicer-like1 Double Mutants. G3 (Bethesda). 2015;6:423-33 pubmed publisher
    ..Together, these findings indicate that the two soybean DCL1 paralogs, DCL1a and DCL1b, largely play functionally redundant roles in the miRNA pathway and are essential for normal plant development. ..
  37. Davis J, Davis L, Correll R, Makarewich C, Schwanekamp J, Moussavi Harami F, et al. A Tension-Based Model Distinguishes Hypertrophic versus Dilated Cardiomyopathy. Cell. 2016;165:1147-1159 pubmed publisher
    ..This tension-based model also has the potential to inform pharmacologic treatment options in cardiomyopathy patients. ..
  38. Lee S, Devamani T, Song H, Sandhu M, Larsen A, Sommese R, et al. Distinct structural mechanisms determine substrate affinity and kinase activity of protein kinase C?. J Biol Chem. 2017;292:16300-16309 pubmed publisher
    ..Moreover, this study establishes a modeling and experimental method to elucidate the structural dynamics underlying substrate selectivity among eukaryotic kinases. ..
  39. Lee T, Ma W, Zhang X, Kantarjian H, Albitar M. Structural effects of clinically observed mutations in JAK2 exons 13-15: comparison with V617F and exon 12 mutations. BMC Struct Biol. 2009;9:58 pubmed publisher
  40. Qiu M, Olsen A, Faivre E, Horwitz K, Lange C. Mitogen-activated protein kinase regulates nuclear association of human progesterone receptors. Mol Endocrinol. 2003;17:628-42 pubmed
    ..These results support a regulatory role for MAPK in nuclear steroid hormone receptor subcellular localization and coupling to multiple PR functions. ..
  41. Tomich M, Griffith A, Herfst C, Burns J, Mohr C. Attenuated virulence of a Burkholderia cepacia type III secretion mutant in a murine model of infection. Infect Immun. 2003;71:1405-15 pubmed
    ..These results implicate type III secretion as an important determinant in the pathogenesis of B. cepacia. ..
  42. Pfeiffer E, Hiasa H. Replacement of ParC alpha4 helix with that of GyrA increases the stability and cytotoxicity of topoisomerase IV-quinolone-DNA ternary complexes. Antimicrob Agents Chemother. 2004;48:608-11 pubmed
    ..Thus, the alpha4 helix plays critical roles in determining the stability and the cytotoxicity of ternary complexes. ..
  43. Kashtan C. Familial hematuria due to type IV collagen mutations: Alport syndrome and thin basement membrane nephropathy. Curr Opin Pediatr. 2004;16:177-81 pubmed
    ..This review will discuss the implications of these findings for the diagnosis and management of persistent glomerular hematuria...
  44. Spartz A, Herman R, Shaw J. SMU-2 and SMU-1, Caenorhabditis elegans homologs of mammalian spliceosome-associated proteins RED and fSAP57, work together to affect splice site choice. Mol Cell Biol. 2004;24:6811-23 pubmed
    ..In vitro and in vivo coimmunoprecipitation experiments indicate that SMU-2 and SMU-1 bind to each other. We propose that SMU-2 and SMU-1 function together to regulate splice site choice in the pre-mRNAs of unc-52 and other genes. ..
  45. Refsland E, Livingston D. Interactions among DNA ligase I, the flap endonuclease and proliferating cell nuclear antigen in the expansion and contraction of CAG repeat tracts in yeast. Genetics. 2005;171:923-34 pubmed
    ..These results suggest that PCNA mediates the entry of the flap endonuclease and DNA ligase I into the process of Okazaki fragment joining, and this ordered entry is necessary to prevent CAG repeat tract expansions. ..
  46. Kristich C, Manias D, Dunny G. Development of a method for markerless genetic exchange in Enterococcus faecalis and its use in construction of a srtA mutant. Appl Environ Microbiol. 2005;71:5837-49 pubmed
    ..faecalis cells required for high-frequency conjugative plasmid transfer in liquid matings. The system of markerless exchange reported here will facilitate detailed genetic analysis of these important pathogens. ..
  47. Nho R, Xia H, Diebold D, Kahm J, Kleidon J, White E, et al. PTEN regulates fibroblast elimination during collagen matrix contraction. J Biol Chem. 2006;281:33291-301 pubmed
    ..Our work suggests that collagen matrix contraction activates PTEN by a mechanism involving cytoskeletal disassembly. Our studies indicate a key role for PTEN in regulating fibroblast viability during tissue repair. ..
  48. Medeiros R, Burbach B, Mueller K, Srivastava R, Moon J, Highfill S, et al. Regulation of NF-kappaB activation in T cells via association of the adapter proteins ADAP and CARMA1. Science. 2007;316:754-8 pubmed
    ..These findings provide new insights into ADAP function and the mechanism by which CARMA1 regulates NF-kappaB activation in T cells. ..
  49. Sorensen E, Conner S. AAK1 regulates Numb function at an early step in clathrin-mediated endocytosis. Traffic. 2008;9:1791-800 pubmed publisher
    ..Collectively, these observations demonstrate that Numb endocytic activity is regulated by AAK1 and that phosphorylation may be a critical step in promoting coated pit maturation. ..
  50. Kashtan C, Segal Y. Glomerular basement membrane disorders in experimental models for renal diseases: impact on understanding pathogenesis and improving diagnosis. Contrib Nephrol. 2011;169:175-82 pubmed publisher
    ..These models can be exploited in studies of the pathogenesis and treatment of such disorders...
  51. VanderWaal K, Yamamoto R, Wakabayashi K, Fox L, Kamiya R, Dutcher S, et al. bop5 Mutations reveal new roles for the IC138 phosphoprotein in the regulation of flagellar motility and asymmetric waveforms. Mol Biol Cell. 2011;22:2862-74 pubmed publisher
    ..These findings have significant implications for the mechanisms by which IC/LC complexes regulate dynein motor activity independent of effects on cargo binding or complex stability...
  52. Bellin M, Laguna T, Leschyshyn J, Regelmann W, Dunitz J, Billings J, et al. Insulin secretion improves in cystic fibrosis following ivacaftor correction of CFTR: a small pilot study. Pediatr Diabetes. 2013;14:417-21 pubmed publisher
  53. Bergad P, Towle H, Berry S. Yin-yang 1 and glucocorticoid receptor participate in the Stat5-mediated growth hormone response of the serine protease inhibitor 2.1 gene. J Biol Chem. 2000;275:8114-20 pubmed
    ..1 requires the unique sequence of the GHRE encompassing the recognition sites of several transcription factors, and the interaction of these factors enhances the assembly of the transcription complex. ..
  54. Nagan M, Beuning P, Musier Forsyth K, Cramer C. Importance of discriminator base stacking interactions: molecular dynamics analysis of A73 microhelix(Ala) variants. Nucleic Acids Res. 2000;28:2527-34 pubmed publisher
  55. Rupp G, Porter M. A subunit of the dynein regulatory complex in Chlamydomonas is a homologue of a growth arrest-specific gene product. J Cell Biol. 2003;162:47-57 pubmed
    ..The expression of Gas8/Gas11 transcripts in a wide range of tissues may also indicate a potential role for PF2-related proteins in other microtubule-based structures...
  56. Nelson W, Blakely S, Nesmelov Y, Thomas D. Site-directed spin labeling reveals a conformational switch in the phosphorylation domain of smooth muscle myosin. Proc Natl Acad Sci U S A. 2005;102:4000-5 pubmed
    ..These results support a model in which this disorder-to-order transition within the phosphorylation domain results in decreased head-head interactions, activating myosin in smooth muscle. ..
  57. Cantrell S, Bresnahan W. Interaction between the human cytomegalovirus UL82 gene product (pp71) and hDaxx regulates immediate-early gene expression and viral replication. J Virol. 2005;79:7792-802 pubmed publisher
    ..These results indicate that the interaction between the human cytomegalovirus UL82 gene product (pp71) and hDaxx regulates immediate-early gene expression and viral replication...
  58. Agarwal S, Harada J, Schreifels J, Lech P, Nikolai B, Yamaguchi T, et al. Isolation, characterization, and genetic complementation of a cellular mutant resistant to retroviral infection. Proc Natl Acad Sci U S A. 2006;103:15933-8 pubmed publisher
    ..Finally, we reconcile our findings and other published data to suggest a model for the involvement of the proteasome in the early phase of the retroviral life cycle...
  59. Ikeda Y, Daughters R, Ranum L. Bidirectional expression of the SCA8 expansion mutation: one mutation, two genes. Cerebellum. 2008;7:150-8 pubmed publisher
  60. Serpe M, Umulis D, Ralston A, Chen J, Olson D, Avanesov A, et al. The BMP-binding protein Crossveinless 2 is a short-range, concentration-dependent, biphasic modulator of BMP signaling in Drosophila. Dev Cell. 2008;14:940-53 pubmed publisher
    ..We also find that Cv-2 expression is controlled by BMP signaling, and these combined properties enable Cv-2 to exquisitely tune BMP signaling. ..
  61. Gardner M, Bouck D, Paliulis L, Meehl J, O TOOLE E, Haase J, et al. Chromosome congression by Kinesin-5 motor-mediated disassembly of longer kinetochore microtubules. Cell. 2008;135:894-906 pubmed publisher
    ..In conclusion, we find that length-dependent control of net kMT assembly by kinesin-5 motors yields a simple and stable self-organizing mechanism for chromosome congression...
  62. Lee T, Ma W, Zhang X, Giles F, Cortes J, Kantarjian H, et al. BCR-ABL alternative splicing as a common mechanism for imatinib resistance: evidence from molecular dynamics simulations. Mol Cancer Ther. 2008;7:3834-41 pubmed publisher
  63. Bower R, VanderWaal K, O TOOLE E, Fox L, Perrone C, Mueller J, et al. IC138 defines a subdomain at the base of the I1 dynein that regulates microtubule sliding and flagellar motility. Mol Biol Cell. 2009;20:3055-63 pubmed publisher
    ..The results reveal an essential role for the IC138 subcomplex in the regulation of I1 activity by the radial spoke/phosphorylation pathway. ..
  64. Duvick L, Barnes J, Ebner B, Agrawal S, ANDRESEN M, Lim J, et al. SCA1-like disease in mice expressing wild-type ataxin-1 with a serine to aspartic acid replacement at residue 776. Neuron. 2010;67:929-35 pubmed publisher
    ..Ser776 is critical for the pathway to neuronal dysfunction, while an expanded polyglutamine tract is essential for neuronal death. ..
  65. Sarafoglou K, Lorentz C, Otten N, Oetting W, Grebe S. Molecular testing in congenital adrenal hyperplasia due to 21?-hydroxylase deficiency in the era of newborn screening. Clin Genet. 2012;82:64-70 pubmed publisher
    ..In the era of NBS, molecular testing is a valuable supplemental tool identifying patients who may benefit from reassessment of their salt-retaining ability. ..
  66. Rasmussen T, Kweon J, Diekmann M, Belema Bedada F, Song Q, Bowlin K, et al. ER71 directs mesodermal fate decisions during embryogenesis. Development. 2011;138:4801-12 pubmed publisher
    ..This enhances our understanding of the mechanisms that govern mesodermal fate decisions early during embryogenesis. ..
  67. Donovan F, Kimble D, Kim Y, Lach F, Harper U, Kamat A, et al. Paternal or Maternal Uniparental Disomy of Chromosome 16 Resulting in Homozygosity of a Mutant Allele Causes Fanconi Anemia. Hum Mutat. 2016;37:465-8 pubmed publisher
    ..These are the first reported cases of UPD as a cause of FA. UPD indicates a reduced risk of having another child with FA in the family and has implications in prenatal diagnosis. ..
  68. Faucz F, Tirosh A, Tatsi C, Berthon A, Hernández Ramírez L, Settas N, et al. Somatic USP8 Gene Mutations Are a Common Cause of Pediatric Cushing Disease. J Clin Endocrinol Metab. 2017;102:2836-2843 pubmed publisher
    ..Patients harboring a somatic mutation had a higher likelihood of tumor recurrence, highlighting the potential importance of this molecular defect for the disease prognosis and the development of targeted therapeutic options. ..
  69. Schweers L, Frank D, Weigel N, Sanders M. The steroid-dependent regulatory element in the ovalbumin gene does not function as a typical steroid response element. J Biol Chem. 1990;265:7590-5 pubmed
    ..These data indicate that induction of the ovalbumin gene by steroid hormones requires complex interactions involving both the SDRE and the negative regulatory element. ..
  70. Oetting W, King R. Molecular basis of oculocutaneous albinism. J Invest Dermatol. 1994;103:131S-136S pubmed
    ..Further, the analysis of these genes and their mutations will provide information on the role of these gene products in melanin biosynthesis and the effect specific mutations have on the pathogenesis of albinism. ..
  71. Roberts M, Mickelson J, Patterson E, Nelson T, Armstrong P, Brunson D, et al. Autosomal dominant canine malignant hyperthermia is caused by a mutation in the gene encoding the skeletal muscle calcium release channel (RYR1). Anesthesiology. 2001;95:716-25 pubmed
  72. Wong F, Beuning P, Silvers C, Musier Forsyth K. An isolated class II aminoacyl-tRNA synthetase insertion domain is functional in amino acid editing. J Biol Chem. 2003;278:52857-64 pubmed
    ..Thus, we demonstrate for the first time that an independently folded class II synthetase editing domain and a previously identified homolog can catalyze a hydrolytic editing reaction. ..
  73. Schumacher A, Nissley D, Harris R. APOBEC3G hypermutates genomic DNA and inhibits Ty1 retrotransposition in yeast. Proc Natl Acad Sci U S A. 2005;102:9854-9 pubmed
    ..We postulate that the APOBEC3-dependent innate cellular defense constitutes a tightly regulated arm of a conserved mobile nucleic acid restriction mechanism that is poised to limit internal as well as external assaults. ..
  74. Burchill M, Yang J, Vogtenhuber C, Blazar B, Farrar M. IL-2 receptor beta-dependent STAT5 activation is required for the development of Foxp3+ regulatory T cells. J Immunol. 2007;178:280-90 pubmed
    ..Finally, STAT5 binds to the promoter of the foxp3 gene suggesting that IL-2Rbeta-dependent STAT5 activation promotes Treg differentiation by regulating expression of foxp3. ..
  75. Pfeiffer E, Hiasa H. Determination of the primary target of a quinolone drug and the effect of quinolone resistance-conferring mutations by measuring quinolone sensitivity based on its mode of action. Antimicrob Agents Chemother. 2007;51:3410-2 pubmed
    ..This assay was found to be useful in identifying the primary target of a quinolone drug and assessing the effect of quinolone resistance-conferring mutations. ..
  76. Giacaman R, Nobbs A, Ross K, Herzberg M. Porphyromonas gingivalis selectively up-regulates the HIV-1 coreceptor CCR5 in oral keratinocytes. J Immunol. 2007;179:2542-50 pubmed
    ..By inducing CCR5 expression, P. gingivalis coinfection could promote selective R5-type HIV-1 infection of oral keratinocytes...
  77. Fattah K, Ruis B, Hendrickson E. Mutations to Ku reveal differences in human somatic cell lines. DNA Repair (Amst). 2008;7:762-74 pubmed publisher
    ..Collectively, these studies demonstrate the importance of proper biallelic expression of these genes for NHEJ and telomere maintenance and they provide insights into why these genes are uniquely essential for primates. ..
  78. Maron B, Roberts W, Arad M, Haas T, Spirito P, Wright G, et al. Clinical outcome and phenotypic expression in LAMP2 cardiomyopathy. JAMA. 2009;301:1253-9 pubmed publisher
    ..These observations underscore the importance of timely molecular diagnosis for predicting prognosis and early consideration of heart transplantation. ..
  79. Keng V, Ryan B, Wangensteen K, Balciunas D, Schmedt C, Ekker S, et al. Efficient transposition of Tol2 in the mouse germline. Genetics. 2009;183:1565-73 pubmed publisher
  80. Rheault M. Women and Alport syndrome. Pediatr Nephrol. 2012;27:41-6 pubmed publisher
    ..This review will explore the natural history of heterozygous XLAS females, the determinants of disease severity, and the utility of using XLAS females as kidney donors. ..
  81. Burbach B, Srivastava R, Ingram M, Mitchell J, Shimizu Y. The pleckstrin homology domain in the SKAP55 adapter protein defines the ability of the adapter protein ADAP to regulate integrin function and NF-kappaB activation. J Immunol. 2011;186:6227-37 pubmed publisher
  82. Gustafson E, Morgans C, Tekmen M, Sullivan S, Esguerra M, Konno R, et al. Retinal NMDA receptor function and expression are altered in a mouse lacking D-amino acid oxidase. J Neurophysiol. 2013;110:2718-26 pubmed publisher
    ..We conclude that 1) DAO is an important regulatory enzyme and normally functions to reduce D-serine levels in the retina, and 2) D-serine levels play a role in the expression of NMDA receptors and the NMDA-to-AMPA receptor ratio. ..
  83. Tsai M, Bignell M, Yang F, Welge B, Graham K, Hanson N. Polygenic influence on plasma homocysteine: association of two prevalent mutations, the 844ins68 of cystathionine beta-synthase and A(2756)G of methionine synthase, with lowered plasma homocysteine levels. Atherosclerosis. 2000;149:131-7 pubmed
  84. Emamian E, Kaytor M, Duvick L, Zu T, Tousey S, Zoghbi H, et al. Serine 776 of ataxin-1 is critical for polyglutamine-induced disease in SCA1 transgenic mice. Neuron. 2003;38:375-87 pubmed
    ..We suggest that S776 of ataxin-1 also has a critical role in SCA1 pathogenesis. ..
  85. Vohra B, Groshong J, Maselli R, Verity M, Wollmann R, Gomez C. Focal caspase activation underlies the endplate myopathy in slow-channel syndrome. Ann Neurol. 2004;55:347-52 pubmed
    ..These findings provide the first evidence supporting the view that caspase activation in human disease can play a prominent role in localized cellular degenerative processes without causing nuclear or cell death. ..
  86. Mueller J, Perrone C, Bower R, Cole D, Porter M. The FLA3 KAP subunit is required for localization of kinesin-2 to the site of flagellar assembly and processive anterograde intraflagellar transport. Mol Biol Cell. 2005;16:1341-54 pubmed
    ..KAP is therefore required for the localization of Kinesin-2 at the site of flagellar assembly and the efficient transport of anterograde IFT particles within flagella. ..
  87. Andrews C, Clarke D. MRX (Mre11/Rad50/Xrs2) mutants reveal dual intra-S-phase checkpoint systems in budding yeast. Cell Cycle. 2005;4:1073-7 pubmed
    ..These data indicate, at least in budding yeast, that alternate pathways enforce replication slowing depending on the particular DNA lesion. ..
  88. Reckinger A, Jeong K, Khodursky A, Hiasa H. RecA can stimulate the relaxation activity of topoisomerase I: Molecular basis of topoisomerase-mediated genome-wide transcriptional responses in Escherichia coli. Nucleic Acids Res. 2007;35:79-86 pubmed
    ..These results suggest that the functional interaction between RecA and topoisomerase I is responsible for RecA-mediated modulation of the relaxation-dependent transcriptional activity of the Escherichia coli chromosome. ..
  89. Patel M, Jacobson B, De A, Frizelle S, Janne P, Thumma S, et al. Ras pathway activation in malignant mesothelioma. J Thorac Oncol. 2007;2:789-95 pubmed
    ..These experiments provide a rationale for targeting Ras and associated signaling pathways in mesothelioma and also suggest cap-dependent translation as one mechanism by which Ras induces proliferation in this disease. ..
  90. Getun I, Brown C, Tulla Puche J, Ohlendorf D, Woodward C, Barany G. Partially folded bovine pancreatic trypsin inhibitor analogues attain fully native structures when co-crystallized with S195A rat trypsin. J Mol Biol. 2008;375:812-23 pubmed
  91. Paulson J, Ramsden M, Forster C, Sherman M, McGowan E, Ashe K. Amyloid plaque and neurofibrillary tangle pathology in a regulatable mouse model of Alzheimer's disease. Am J Pathol. 2008;173:762-72 pubmed publisher
    ..Importantly, transgene expression in these mice is regulatable, permitting temporal control of gene expression and the investigation of transgene suppression. ..
  92. Nelson H, Christensen B, Plaza S, Wiencke J, Marsit C, Kelsey K. KRAS mutation, KRAS-LCS6 polymorphism, and non-small cell lung cancer. Lung Cancer. 2010;69:51-3 pubmed publisher
    ..Further, we find no association between the LCS6 polymorphism and lung cancer survival. These unexpected findings imply that this newly reported KRAS-LCS6 polymorphism will have limited clinical utility for NSCLC. ..