Experts and Doctors on mutation in Chapel Hill, North Carolina, United States


Locale: Chapel Hill, North Carolina, United States
Topic: mutation

Top Publications

  1. Kelly D, Chancellor K, Milatovich A, Francke U, Suzuki K, Popko B. Autosomal recessive neuromuscular disorder in a transgenic line of mice. J Neurosci. 1994;14:198-207 pubmed
    ..Nevertheless, the chromosomal position of the transgene integration site, which was mapped by fluorescent in situ hybridization to chromosome 11, indicates that this disorder represents a new neuromuscular mutation. ..
  2. Boesch K, Silversmith R, Bourret R. Isolation and characterization of nonchemotactic CheZ mutants of Escherichia coli. J Bacteriol. 2000;182:3544-52 pubmed
  3. Wang J, Mager J, Schnedier E, Magnuson T. The mouse PcG gene eed is required for Hox gene repression and extraembryonic development. Mamm Genome. 2002;13:493-503 pubmed
    ..However, genetic crosses with a Mash2 null allele suggested that Eed was not required to maintain Mash2 imprinting, but could be required in a lineage specific fashion to suppress Mash2 expression. ..
  4. Nagpal P, Ellis C, Weber H, Ploense S, Barkawi L, Guilfoyle T, et al. Auxin response factors ARF6 and ARF8 promote jasmonic acid production and flower maturation. Development. 2005;132:4107-18 pubmed
  5. Torres M, Jones J, Dangl J. Pathogen-induced, NADPH oxidase-derived reactive oxygen intermediates suppress spread of cell death in Arabidopsis thaliana. Nat Genet. 2005;37:1130-4 pubmed
    ..These results have implications for understanding how salicylic acid activates defense signaling in cells spatially removed from infection sites without causing cell death. ..
  6. Garcia Fresco G, Sousa A, Pillai A, Moy S, Crawley J, Tessarollo L, et al. Disruption of axo-glial junctions causes cytoskeletal disorganization and degeneration of Purkinje neuron axons. Proc Natl Acad Sci U S A. 2006;103:5137-42 pubmed
    ..Together, these findings establish a physiologically relevant link between AGJs and axonal cytoskeleton and raise the possibility that some neurodegenerative disorders arise from disruption of the AGJs. ..
  7. Malone M, Sciaky N, Stalheim L, Hahn K, Linney E, Johnson G. Laser-scanning velocimetry: a confocal microscopy method for quantitative measurement of cardiovascular performance in zebrafish embryos and larvae. BMC Biotechnol. 2007;7:40 pubmed
  8. Swanhart L, Sanders A, Duronio R. Normal regulation of Rbf1/E2f1 target genes in Drosophila type 1 protein phosphatase mutants. Dev Dyn. 2007;236:2567-77 pubmed
    ..We conclude that PP1 is not a major regulator of the Rbf1/E2F1 pathway in Drosophila. ..
  9. Gregory D, Bachenheimer S. Characterization of mre11 loss following HSV-1 infection. Virology. 2008;373:124-36 pubmed publisher
    ..These results suggest that Mre11 loss following infection is caused by the generation of free DNA ends during or following viral DNA replication. ..

More Information

Publications319 found, 100 shown here

  1. Lindsey Boltz L, Serçin O, Choi J, Sancar A. Reconstitution of human claspin-mediated phosphorylation of Chk1 by the ATR (ataxia telangiectasia-mutated and rad3-related) checkpoint kinase. J Biol Chem. 2009;284:33107-14 pubmed publisher
    ..This in vitro system recapitulates essential components of the genetically defined ATR-signaling pathway. ..
  2. Johnson A, Craciunescu C, Guo Z, Teng Y, Thresher R, Blusztajn J, et al. Deletion of murine choline dehydrogenase results in diminished sperm motility. FASEB J. 2010;24:2752-61 pubmed publisher
    ..Mitochondrial changes were also detected in liver, kidney, heart, and testis tissues. We suggest that men who have SNPs in CHDH that decrease the activity of the CHDH enzyme could have decreased sperm motility and fertility. ..
  3. Yang X, Sabath I, Debski J, Kaus Drobek M, Dadlez M, Marzluff W, et al. A complex containing the CPSF73 endonuclease and other polyadenylation factors associates with U7 snRNP and is recruited to histone pre-mRNA for 3'-end processing. Mol Cell Biol. 2013;33:28-37 pubmed publisher
  4. Marchant N, Whitaker L, Bossert J, Harvey B, Hope B, Kaganovsky K, et al. Behavioral and Physiological Effects of a Novel Kappa-Opioid Receptor-Based DREADD in Rats. Neuropsychopharmacology. 2016;41:402-9 pubmed publisher
    ..Our results indicate that the novel KORD is a promising tool to selectively inactivate brain areas and neural circuits in rat studies of motivated behavior. ..
  5. Zumsteg Z, Morse N, Krigsfeld G, Gupta G, Higginson D, Lee N, et al. Taselisib (GDC-0032), a Potent β-Sparing Small Molecule Inhibitor of PI3K, Radiosensitizes Head and Neck Squamous Carcinomas Containing Activating PIK3CA Alterations. Clin Cancer Res. 2016;22:2009-19 pubmed publisher
    ..Further, combined GDC-0032 and radiotherapy was more efficacious than either treatment alone inPIK3CA-altered HNSCCin vitroandin vivo This strategy warrants further clinical investigation. ..
  6. Henao A, Pira S, Herrera D, Vargas S, Montoya J, Castillo M. Characteristic brain MRI findings in ataxia-neuropathy spectrum related to POLG mutation. Neuroradiol J. 2016;29:46-8 pubmed publisher
    ..Herein we report a patient with a POLG gene W748S homozygous mutation and characteristic lesions in the thalamus, cerebellum and inferior olivary nucleus seen on magnetic resonance imaging. ..
  7. Legassie J, Jarstfer M. The unmasking of telomerase. Structure. 2006;14:1603-9 pubmed
    ..thermophila telomerase reverse transcriptase have also been determined. These studies complement previous biochemical studies, providing rich insight into the structural basis for telomerase activity. ..
  8. Knowles M, DRUMM M. The influence of genetics on cystic fibrosis phenotypes. Cold Spring Harb Perspect Med. 2012;2:a009548 pubmed publisher
    ..These unforeseen associations thus provide novel insight into disease pathophysiology, as well as suggesting new therapeutic strategies for CF. ..
  9. Daniels M, Leigh M, Davis S, Armstrong M, Carson J, Hazucha M, et al. Founder mutation in RSPH4A identified in patients of Hispanic descent with primary ciliary dyskinesia. Hum Mutat. 2013;34:1352-6 pubmed publisher
    ..921+3_6delAAGT splice-site mutation in RSPH4A were Hispanic with ancestry tracing to Puerto Rico. This mutation is a founder mutation and a common cause of PCD without situs abnormalities in patients of Puerto Rican descent. ..
  10. Cole B, Feltcher M, Waters R, Wetmore K, Mucyn T, Ryan E, et al. Genome-wide identification of bacterial plant colonization genes. PLoS Biol. 2017;15:e2002860 pubmed publisher
  11. Collier D, Bassford P. Mutations that improve export of maltose-binding protein in SecB- cells of Escherichia coli. J Bacteriol. 1989;171:4640-7 pubmed
    ..These results provide additional strong support for the proposed antifolding role of SecB in MBP export...
  12. Luetteke N, Qiu T, Fenton S, Troyer K, Riedel R, Chang A, et al. Targeted inactivation of the EGF and amphiregulin genes reveals distinct roles for EGF receptor ligands in mouse mammary gland development. Development. 1999;126:2739-50 pubmed
    ..Finally, the additional loss of growth factors from pups nursed by triple null dams further worsened their survival and growth, establishing functions for both maternal- and neonatal-derived growth factors. ..
  13. Suthar M, Shabman R, Madric K, Lambeth C, Heise M. Identification of adult mouse neurovirulence determinants of the Sindbis virus strain AR86. J Virol. 2005;79:4219-28 pubmed
  14. Bultman S, Gebuhr T, Magnuson T. A Brg1 mutation that uncouples ATPase activity from chromatin remodeling reveals an essential role for SWI/SNF-related complexes in beta-globin expression and erythroid development. Genes Dev. 2005;19:2849-61 pubmed
    ..Not only does this mutation establish a role for Brg1 during organogenesis, it also demonstrates that ATPase activity can be uncoupled from chromatin remodeling. ..
  15. Larocque J, Jaklevic B, Su T, Sekelsky J. Drosophila ATR in double-strand break repair. Genetics. 2007;175:1023-33 pubmed
    ..However, this does not account for all of the defects we observed. We propose a novel role for MEI-41 in DSB repair, independent of the Chk1/Chk2-mediated checkpoint response. ..
  16. Ye Z, Lich J, Moore C, Duncan J, Williams K, Ting J. ATP binding by monarch-1/NLRP12 is critical for its inhibitory function. Mol Cell Biol. 2008;28:1841-50 pubmed
    ..The results of this study are consistent with a model wherein ATP binding regulates the anti-inflammatory activity of Monarch-1. ..
  17. Rozenberg G, Monahan K, Torrice C, Bear J, Sharpless N. Metastasis in an orthotopic murine model of melanoma is independent of RAS/RAF mutation. Melanoma Res. 2010;20:361-71 pubmed publisher
    ..These data suggest that melanoma metastasis is a molecularly heterogeneous process that may not require epithelial-to-mesenchymal transition or ERK activation, although both may facilitate the process. ..
  18. Boyden L, Vincent N, Zhou J, Hu R, Craiglow B, Bayliss S, et al. Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma. Am J Hum Genet. 2017;100:978-984 pubmed publisher
    ..Systemic isotretinoin therapy has achieved nearly complete resolution in the two probands in whom it has been applied, consistent with the effects of retinoic acid on alternative pathways for ceramide generation. ..
  19. McCartney B, Dierick H, Kirkpatrick C, Moline M, Baas A, Peifer M, et al. Drosophila APC2 is a cytoskeletally-associated protein that regulates wingless signaling in the embryonic epidermis. J Cell Biol. 1999;146:1303-18 pubmed
    ..We discuss the implications of our results for Wg signaling, and suggest a role for dAPC2 as a mediator of Wg effects on the cytoskeleton. We also speculate on more general roles that APCs may play in cytoskeletal dynamics. ..
  20. Mahajan N, Liu Y, Majumder S, Warren M, Parker C, Mohler J, et al. Activated Cdc42-associated kinase Ack1 promotes prostate cancer progression via androgen receptor tyrosine phosphorylation. Proc Natl Acad Sci U S A. 2007;104:8438-43 pubmed
    ..Targeting the Ack1 kinase may be a potential therapeutic strategy in prostate cancer. ..
  21. Lowden M, Meier B, Lee T, Hall J, Ahmed S. End joining at Caenorhabditis elegans telomeres. Genetics. 2008;180:741-54 pubmed publisher
    ..We also demonstrate that deficiency for the C. elegans Ku DNA repair heterodimer does not affect telomere length or cause synthetic effects in the absence of telomerase. ..
  22. Mendonca V, Kaiser Rogers K, Matson S. Double helicase II (uvrD)-helicase IV (helD) deletion mutants are defective in the recombination pathways of Escherichia coli. J Bacteriol. 1993;175:4641-51 pubmed
    ..In addition, helicase IV has been overexpressed in a tightly regulated system. The data suggest that even modest overexpression of helicase IV is lethal to the cell. ..
  23. Elkins C, Chen C, Thomas C. Characterization of the hgbA locus encoding a hemoglobin receptor from Haemophilus ducreyi. Infect Immun. 1995;63:2194-200 pubmed
    ..also showed very significant homology. Thus, by characterizing the hgbA locus, this work elucidates a potentially important role of HgbA in obtaining heme and/or iron from the host. ..
  24. Kao L, Megraw T, Chae C. SHM1: a multicopy suppressor of a temperature-sensitive null mutation in the HMG1-like abf2 gene. Yeast. 1996;12:1239-50 pubmed
    ..These results suggest the SHM1p plays an accessory role to HM in the mitochondrion. ..
  25. Xia L, Zhang Y. Sp1 and ETS family transcription factors regulate the mouse Mta2 gene expression. Gene. 2001;268:77-85 pubmed
  26. Glasscock L, Gerlitz B, Cooper S, Grinnell B, Church F. Basic residues in the 37-loop of activated protein C modulate inhibition by protein C inhibitor but not by alpha(1)-antitrypsin. Biochim Biophys Acta. 2003;1649:106-17 pubmed
  27. Chen C, Paing M, Trejo J. Termination of protease-activated receptor-1 signaling by beta-arrestins is independent of receptor phosphorylation. J Biol Chem. 2004;279:10020-31 pubmed
    ..These findings reveal a new level of complexity in the regulation of protease-activated GPCR signaling. ..
  28. Burch C, Chao L. Epistasis and its relationship to canalization in the RNA virus phi 6. Genetics. 2004;167:559-67 pubmed
    ..In addition, our results suggest that genetic and environmental canalization have the same developmental basis and finally that an understanding of the nature of epistasis may first require an understanding of the nature of canalization...
  29. Askew E, Gampe R, Stanley T, Faggart J, Wilson E. Modulation of androgen receptor activation function 2 by testosterone and dihydrotestosterone. J Biol Chem. 2007;282:25801-16 pubmed
    ..We conclude that T is a weaker androgen than DHT because of less favorable T-dependent AR FXXLF and coactivator LXXLL motif interactions at AF2. ..
  30. Ko N, Nishihama R, Tully G, Ostapenko D, Solomon M, Morgan D, et al. Identification of yeast IQGAP (Iqg1p) as an anaphase-promoting-complex substrate and its role in actomyosin-ring-independent cytokinesis. Mol Biol Cell. 2007;18:5139-53 pubmed
    ..Together, the data suggest that compromise of APC/C function allows the accumulation of Iqg1p, which then promotes actomyosin-ring-independent cytokinesis at least in part by activation of Cyk3p. ..
  31. Goicoechea S, Arneman D, Otey C. The role of palladin in actin organization and cell motility. Eur J Cell Biol. 2008;87:517-25 pubmed publisher
    ..Recently, a mutation in the human palladin gene was implicated in an unusually penetrant form of inherited pancreatic cancer, which has stimulated new ideas about the role of palladin in invasive cancer. ..
  32. Johnson L, Altenburg M, Walzem R, Scanga L, Maeda N. Absence of hyperlipidemia in LDL receptor-deficient mice having apolipoprotein B100 without the putative receptor-binding sequences. Arterioscler Thromb Vasc Biol. 2008;28:1745-52 pubmed publisher
  33. Ghassemi F, Vukcevic M, Xu L, Zhou H, Meissner G, Muntoni F, et al. A recessive ryanodine receptor 1 mutation in a CCD patient increases channel activity. Cell Calcium. 2009;45:192-7 pubmed publisher
  34. Andersen S, Kuo H, Savukoski D, Brodsky M, Sekelsky J. Three structure-selective endonucleases are essential in the absence of BLM helicase in Drosophila. PLoS Genet. 2011;7:e1002315 pubmed publisher
    ..Our studies of synthetic lethality provide insights into the multiple functions of DmBLM and how various endonucleases may function when DmBLM is absent. ..
  35. Hurst J, Dohlman H. Dynamic ubiquitination of the mitogen-activated protein kinase kinase (MAPKK) Ste7 determines mitogen-activated protein kinase (MAPK) specificity. J Biol Chem. 2013;288:18660-71 pubmed publisher
    ..These results reveal a feedback loop wherein one MAPK limits the ubiquitination of an upstream MAPKK and thereby prevents spurious activation of a second competing MAPK. ..
  36. Su H, Khatun J, Kanavy D, Giddings M. Comparative genome analysis of ciprofloxacin-resistant Pseudomonas aeruginosa reveals genes within newly identified high variability regions associated with drug resistance development. Microb Drug Resist. 2013;19:428-36 pubmed publisher
  37. Comer A, Searles L, Kalfayan L. Identification of a genomic DNA fragment containing the Drosophila melanogaster ovarian tumor gene (otu) and localization of regions governing its expression. Gene. 1992;118:171-9 pubmed
  38. Nishimoto J, Nanba E, Inui K, Okada S, Suzuki K. GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients. Am J Hum Genet. 1991;49:566-74 pubmed
    ..The prediction that these mutations are responsible for the clinical disease was confirmed by no expression of the catalytic activity of the mutant proteins in the COS-I cell expression system.(ABSTRACT TRUNCATED AT 250 WORDS)..
  39. Greene S, Stamm L. Molecular characterization of the gyrB region of the oral spirochete, Treponema denticola. Gene. 2000;253:259-69 pubmed
    ..The mutants have a >20-fold higher resistance to coumermycin A(1) than wild-type Td. A single point mutation in gyrB that changed GyrB Lys(136) to Glu or Thr appears to be responsible for the coumermycin A(1) resistance. ..
  40. Paing M, Temple B, Trejo J. A tyrosine-based sorting signal regulates intracellular trafficking of protease-activated receptor-1: multiple regulatory mechanisms for agonist-induced G protein-coupled receptor internalization. J Biol Chem. 2004;279:21938-47 pubmed
    ..This study is the first to describe a function for a tyrosine-based motif, YXX, in GPCR internalization and reveal novel complexities in the regulation of GPCR trafficking. ..
  41. Harris T, Peifer M. Adherens junction-dependent and -independent steps in the establishment of epithelial cell polarity in Drosophila. J Cell Biol. 2004;167:135-47 pubmed
    ..Thus, although epithelial polarity develops in the absence of AJs, AJs play specific roles in maintaining epithelial architecture and segregating basolateral cues. ..
  42. McLaughlin J, Fu J, Sproul A, Rosenberg R. Role of the outer beta-sheet in divalent cation modulation of alpha7 nicotinic receptors. Mol Pharmacol. 2006;70:16-22 pubmed
    ..In this setting, divalent cations, acting at the conserved glutamate in loop 9, act as full agonists or requisite coagonists...
  43. Hegedus T, Aleksandrov A, Cui L, Gentzsch M, Chang X, Riordan J. F508del CFTR with two altered RXR motifs escapes from ER quality control but its channel activity is thermally sensitive. Biochim Biophys Acta. 2006;1758:565-72 pubmed
    ..Therefore effective molecular therapies developed to alleviate disease caused by F508del and probably other misprocessing mutants will require overcoming both their kinetic and steady-state impacts. ..
  44. Kupsco J, Wu M, Marzluff W, Thapar R, Duronio R. Genetic and biochemical characterization of Drosophila Snipper: A promiscuous member of the metazoan 3'hExo/ERI-1 family of 3' to 5' exonucleases. RNA. 2006;12:2103-17 pubmed
    ..Therefore, Snp is a nonessential exonuclease that is not a functional ortholog of either 3'hExo or ERI-1. ..
  45. Donaldson E, Sims A, Graham R, Denison M, Baric R. Murine hepatitis virus replicase protein nsp10 is a critical regulator of viral RNA synthesis. J Virol. 2007;81:6356-68 pubmed publisher
    ..These results demonstrate that nsp10 is a critical regulator of coronavirus RNA synthesis and may play an important role in polyprotein processing...
  46. Hu J, Zacharek S, He Y, Lee H, Shumway S, Duronio R, et al. WD40 protein FBW5 promotes ubiquitination of tumor suppressor TSC2 by DDB1-CUL4-ROC1 ligase. Genes Dev. 2008;22:866-71 pubmed publisher
    ..These results indicate that FBW5-DDB1-CUL4-ROC1 is an E3 ubiquitin ligase regulating TSC2 protein stability and TSC complex turnover. ..
  47. Eitas T, NIMCHUK Z, Dangl J. Arabidopsis TAO1 is a TIR-NB-LRR protein that contributes to disease resistance induced by the Pseudomonas syringae effector AvrB. Proc Natl Acad Sci U S A. 2008;105:6475-80 pubmed publisher
    ..AvrB activates both RPM1, a CC-NB-LRR protein, and TAO1, a TIR-NB-LRR protein. These NB-LRR proteins then act additively to generate a full disease resistance response to P. syringae expressing this type III effector. ..
  48. Alexis N, Zhou H, Lay J, Harris B, Hernandez M, Lu T, et al. The glutathione-S-transferase Mu 1 null genotype modulates ozone-induced airway inflammation in human subjects. J Allergy Clin Immunol. 2009;124:1222-1228.e5 pubmed publisher
    ..The GSTM1 null genotype is associated with increased airways inflammation 24 hours after ozone exposure, which is consistent with the lag time observed between increased ambient air ozone exposure and exacerbations of lung disease. ..
  49. Roberts P, Stinchcombe T, Der C, Socinski M. Personalized medicine in non-small-cell lung cancer: is KRAS a useful marker in selecting patients for epidermal growth factor receptor-targeted therapy?. J Clin Oncol. 2010;28:4769-77 pubmed publisher
  50. Rossi G, Brennwald P. Yeast homologues of lethal giant larvae and type V myosin cooperate in the regulation of Rab-dependent vesicle clustering and polarized exocytosis. Mol Biol Cell. 2011;22:842-57 pubmed publisher
    ..Thus Sro7 appears to coordinate the spatial and temporal nature of both Rab-dependent tethering and SNARE-dependent membrane fusion of exocytic vesicles with the plasma membrane. ..
  51. Pan W, Issaq S, Zhang Y. The in vivo role of the RP-Mdm2-p53 pathway in signaling oncogenic stress induced by pRb inactivation and Ras overexpression. PLoS ONE. 2011;6:e21625 pubmed publisher
    ..Thus, unlike the p19Arf-Mdm2-p53 pathway, which is considered a general oncogenic response pathway, the RP-Mdm2-p53 pathway appears to specifically suppress tumorigenesis induced by oncogenic c-Myc. ..
  52. Powers S, Gopalakrishnan S, Tintle N. Assessing the impact of non-differential genotyping errors on rare variant tests of association. Hum Hered. 2011;72:153-60 pubmed publisher
    ..Error rates from genotype-calling technology for next-generation sequencing data suggest that substantial power loss may be seen when applying current rare variant tests of association to called genotypes. ..
  53. Brennaman L, Moss M, Maness P. EphrinA/EphA-induced ectodomain shedding of neural cell adhesion molecule regulates growth cone repulsion through ADAM10 metalloprotease. J Neurochem. 2014;128:267-79 pubmed publisher
    ..These findings identify a new regulatory mechanism which may contribute to inhibitory connectivity. ..
  54. Robertson A, Shih J, Yau C, Gibb E, Oba J, Mungall K, et al. Integrative Analysis Identifies Four Molecular and Clinical Subsets in Uveal Melanoma. Cancer Cell. 2017;32:204-220.e15 pubmed publisher
    ..Within D3-UM, EIF1AX- and SRSF2/SF3B1-mutant tumors have distinct somatic copy number alterations and DNA methylation profiles, providing insight into the biology of these low- versus intermediate-risk clinical mutation subtypes. ..
  55. Nakamura K, Uhlik M, Johnson N, Hahn K, Johnson G. PB1 domain-dependent signaling complex is required for extracellular signal-regulated kinase 5 activation. Mol Cell Biol. 2006;26:2065-79 pubmed
    ..The MEK5 PB1 domain confers stringent MAP3K regulation of ERK5 relative to more promiscuous MAP3K control of ERK1/2, JNK, and p38. ..
  56. Homem C, Peifer M. Diaphanous regulates myosin and adherens junctions to control cell contractility and protrusive behavior during morphogenesis. Development. 2008;135:1005-18 pubmed publisher
    ..These effects also are mediated through coordinated effects on myosin activity and adhesion, suggesting a common mechanism for Diaphanous action during morphogenesis. ..
  57. Itahana Y, Ke H, Zhang Y. p53 Oligomerization is essential for its C-terminal lysine acetylation. J Biol Chem. 2009;284:5158-64 pubmed publisher
    ..These results, combined with a computer-aided crystal structure analysis, suggest a model in which p53 oligomerization precedes its acetylation by providing docking sites for acetyltransferases. ..
  58. Houck S, Ren H, Madden V, Bonner J, Conlin M, Janovick J, et al. Quality control autophagy degrades soluble ERAD-resistant conformers of the misfolded membrane protein GnRHR. Mol Cell. 2014;54:166-179 pubmed publisher
    ..Interaction between ER-associated Hsp40s and the Vps34 complex permits the selective degradation of ERAD-resistant membrane proteins via ERQC autophagy. ..
  59. Willis M, Holley D, Wang Z, Chen X, Quintana M, Jensen B, et al. BRG1 and BRM function antagonistically with c-MYC in adult cardiomyocytes to regulate conduction and contractility. J Mol Cell Cardiol. 2017;105:99-109 pubmed publisher
    ..BRG1/BRM and c-MYC have an antagonistic relationship regulating the expression of cardiac conduction genes that maintain contractility, which is reminiscent of their antagonistic roles as a tumor suppressor and oncogene in cancer. ..
  60. Ball C, Solem A, Meganck R, Laederach A, Ramos S. Impact of RNA structure on ZFP36L2 interaction with luteinizing hormone receptor mRNA. RNA. 2017;23:1209-1223 pubmed publisher
    ..Collectively, our results suggest that a combination of minimal ARE sequence, placement of the ARE in a hairpin loop, and stem flexibility mediate high-affinity L2 binding to hLHR mRNA. ..
  61. Toth L, Smith T, Jones C, de Silva H, Smithies O, Maeda N. Two distinct apolipoprotein B alleles in mice generated by a single 'in-out' targeting. Gene. 1996;178:161-8 pubmed
  62. Walker V, Wu K, Upton P, Ranasinghe A, Scheller N, Cho M, et al. Biomarkers of exposure and effect as indicators of potential carcinogenic risk arising from in vivo metabolism of ethylene to ethylene oxide. Carcinogenesis. 2000;21:1661-9 pubmed
  63. Dominski Z, Erkmann J, Greenland J, Marzluff W. Mutations in the RNA binding domain of stem-loop binding protein define separable requirements for RNA binding and for histone pre-mRNA processing. Mol Cell Biol. 2001;21:2008-17 pubmed
    ..It is likely that the RBD of SLBP interacts directly with both the stem-loop RNA and other processing factor(s), most likely the U7 snRNP, to facilitate histone pre-mRNA processing. ..
  64. Mythreye K, Bloom K. Differential kinetochore protein requirements for establishment versus propagation of centromere activity in Saccharomyces cerevisiae. J Cell Biol. 2003;160:833-43 pubmed
    ..Furthermore, this study identifies Chl4p in the initiation and specification of a heritable chromatin state. ..
  65. Zariwala M, O Neal W, Noone P, Leigh M, Knowles M, Ostrowski L. Investigation of the possible role of a novel gene, DPCD, in primary ciliary dyskinesia. Am J Respir Cell Mol Biol. 2004;30:428-34 pubmed
    ..No disease-causing mutations were confirmed; however, one variant could not be excluded. Therefore, DPCD remains a novel candidate gene for PCD. ..
  66. Roberts D, Kearney J, Johnson J, Rosenberg M, Kumar R, Bautch V. The vascular endothelial growth factor (VEGF) receptor Flt-1 (VEGFR-1) modulates Flk-1 (VEGFR-2) signaling during blood vessel formation. Am J Pathol. 2004;164:1531-5 pubmed
  67. Mole B, Habibi S, Dangl J, Grant S. Gluconate metabolism is required for virulence of the soft-rot pathogen Pectobacterium carotovorum. Mol Plant Microbe Interact. 2010;23:1335-44 pubmed publisher
    ..carotovorum pathogenesis. Thus, we rename this operon in P. carotovorum vguABCD for virulence and gluconate metabolism...
  68. Zariwala M, Omran H, Ferkol T. The emerging genetics of primary ciliary dyskinesia. Proc Am Thorac Soc. 2011;8:430-3 pubmed publisher
    ..In conclusion, we demonstrate the multipronged approach that is necessary to circumvent challenges due to genetic heterogeneity to uncover genetic causes of PCD. ..
  69. Choi H, Brooking Dixon R, Neupane S, Lee C, Miao E, Staats H, et al. Salmonella typhimurium impedes innate immunity with a mast-cell-suppressing protein tyrosine phosphatase, SptP. Immunity. 2013;39:1108-20 pubmed publisher
    ..Administration of SptP to sites of E. coli infection markedly enhanced its virulence. Thus, SptP-mediated inactivation of local MCs is a powerful mechanism utilized by S. Typhimurium to impede early innate immunity. ..
  70. McMillin M, Beck A, Chong J, Shively K, Buckingham K, Gildersleeve H, et al. Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. Am J Hum Genet. 2014;94:734-44 pubmed publisher
    ..0001). Collectively, although GS, DA5, and MWS have traditionally been considered separate disorders, our findings indicate that they are etiologically related and perhaps represent variable expressivity of the same condition. ..
  71. Cherniack A, Shen H, Walter V, Stewart C, Murray B, Bowlby R, et al. Integrated Molecular Characterization of Uterine Carcinosarcoma. Cancer Cell. 2017;31:411-423 pubmed publisher
    ..UCSs shared proteomic features with gynecologic carcinomas and sarcomas with intermediate EMT features. Multiple somatic mutations and copy-number alterations in genes that are therapeutic targets were identified. ..
  72. Huh N, Hwang I, Lim K, You K, Chae C. Presence of a bi-directional S phase-specific transcription regulatory element in the promoter shared by testis-specific TH2A and TH2B histone genes. Nucleic Acids Res. 1991;19:93-8 pubmed
    ..In addition, TH2A gene, like TH2B gene, contains the consensus sequence element in the 3' non-coding region which is involved in the S phase-specific stabilization of histone mRNA. ..
  73. Yarbrough W, Quarmby V, Simental J, Joseph D, Sar M, Lubahn D, et al. A single base mutation in the androgen receptor gene causes androgen insensitivity in the testicular feminized rat. J Biol Chem. 1990;265:8893-900 pubmed
    ..Thus, arginine 734 appears essential for normal AR function both in androgen binding and transcriptional activation. Absence of these functions results in androgen insensitivity and lack of male sexual development. ..
  74. Steinhauer W, Walsh R, Kalfayan L. Sequence and structure of the Drosophila melanogaster ovarian tumor gene and generation of an antibody specific for the ovarian tumor protein. Mol Cell Biol. 1989;9:5726-32 pubmed
    ..5 kilobases. The proline-rich, hydrophilic otu protein is novel. An antibody prepared to a beta-gal-otu fusion protein recognized a 110-kilodalton ovarian protein which was altered in the ovaries of otu gene mutants. ..
  75. Biswas G, Anderson J, Sparling P. Cloning and functional characterization of Neisseria gonorrhoeae tonB, exbB and exbD genes. Mol Microbiol. 1997;24:169-79 pubmed
    ..We conclude that the pathways for utilization of Fe bound to TF, LF and HB but not to HM or CT were dependent on the TonB system...
  76. Thresher R, Vitaterna M, Miyamoto Y, Kazantsev A, Hsu D, Petit C, et al. Role of mouse cryptochrome blue-light photoreceptor in circadian photoresponses. Science. 1998;282:1490-4 pubmed
    ..These data are consistent with the hypothesis that CRY2 protein modulates circadian responses in mice and suggest that cryptochromes have a role in circadian photoreception in mammals. ..
  77. Kokoska R, Stefanovic L, Buermeyer A, Liskay R, Petes T. A mutation of the yeast gene encoding PCNA destabilizes both microsatellite and minisatellite DNA sequences. Genetics. 1999;151:511-9 pubmed
    ..Strains with both pol30-52 and pol3-t mutations grew extremely slowly and had minisatellite mutation rates considerably greater than those observed in either single mutant strain. ..
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    ..7.2C mouse lymphoma cells. From all of these analyses we can conclude that the small colony mutant phenotype is not caused by deletion of both Trp53 and Tk1...
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