Experts and Doctors on mutation in New York, United States


Locale: New York, United States
Topic: mutation

Top Publications

  1. Stephenson E, Chao Y, Fackenthal J. Molecular analysis of the swallow gene of Drosophila melanogaster. Genes Dev. 1988;2:1655-65 pubmed
    ..We have confirmed an earlier finding that the localization of bicoid message is defective in swallow- oocytes and eggs. ..
  2. Suzuki T, Park H, Hollingsworth N, Sternglanz R, Lennarz W. PNG1, a yeast gene encoding a highly conserved peptide:N-glycanase. J Cell Biol. 2000;149:1039-52 pubmed
    ..Sequencing of expressed sequence tag clones revealed that Png1p is highly conserved in a wide variety of eukaryotes including mammals, suggesting that the enzyme has an important function. ..
  3. Georgescu M, Kirsch K, Kaloudis P, Yang H, Pavletich N, Hanafusa H. Stabilization and productive positioning roles of the C2 domain of PTEN tumor suppressor. Cancer Res. 2000;60:7033-8 pubmed
    ..These data support a double role for PTEN C2 domain in protein stability and in productive orientation of the catalytic site. ..
  4. Wijnen H, Landman A, Futcher B. The G(1) cyclin Cln3 promotes cell cycle entry via the transcription factor Swi6. Mol Cell Biol. 2002;22:4402-18 pubmed
    ..Cln3-Cdc28 may activate SBF and MBF indirectly, perhaps by phosphorylating some intermediary protein. ..
  5. Skacel N, Menon L, Mishra P, Peters R, Banerjee D, Bertino J, et al. Identification of amino acids required for the functional up-regulation of human dihydrofolate reductase protein in response to antifolate Treatment. J Biol Chem. 2005;280:22721-31 pubmed
    ..The mutants that are not up-regulated by methotrexate are unable to bind their cognate mRNA. ..
  6. Takeda T, Chang F. Role of fission yeast myosin I in organization of sterol-rich membrane domains. Curr Biol. 2005;15:1331-6 pubmed
    ..Because the myo1p TH1 domain may bind directly to acidic phospholipids, these findings suggest a model for how type I myosin contributes to the organization of specialized membrane domains. ..
  7. Fung C, Fortin G, Peterson S, Symington L. The rad51-K191R ATPase-defective mutant is impaired for presynaptic filament formation. Mol Cell Biol. 2006;26:9544-54 pubmed
    ..We suggest the Rad51-K191R protein either forms an altered filament or is defective in turnover, resulting in a reduced pool of free protein available for DNA binding. ..
  8. Mozlin A, Fung C, Symington L. Role of the Saccharomyces cerevisiae Rad51 paralogs in sister chromatid recombination. Genetics. 2008;178:113-26 pubmed publisher
    ..Furthermore, these data suggest that most spontaneous SCR initiates from single-stranded gaps formed at stalled replication forks rather than DSBs. ..
  9. Hsiao T, Vitkup D. Role of duplicate genes in robustness against deleterious human mutations. PLoS Genet. 2008;4:e1000014 pubmed publisher
    ..We also demonstrate that similarity of expression profiles across tissues significantly increases the likelihood of functional compensation by homologs. ..

More Information

Publications1049 found, 100 shown here

  1. Daga R, Nurse P. Interphase microtubule bundles use global cell shape to guide spindle alignment in fission yeast. J Cell Sci. 2008;121:1973-80 pubmed publisher
  2. Dao D, Sweeney K, Hsu T, Gurcha S, Nascimento I, Roshevsky D, et al. Mycolic acid modification by the mmaA4 gene of M. tuberculosis modulates IL-12 production. PLoS Pathog. 2008;4:e1000081 pubmed publisher
    ..These findings strongly suggest that M. tuberculosis has evolved mmaA4-derived mycolic acids, including those incorporated into TDM to manipulate IL-12-mediated immunity and virulence. ..
  3. Fossati S, Cam J, Meyerson J, Mezhericher E, Romero I, Couraud P, et al. Differential activation of mitochondrial apoptotic pathways by vasculotropic amyloid-beta variants in cells composing the cerebral vessel walls. FASEB J. 2010;24:229-41 pubmed publisher
    ..The data support the notion that rare genetic mutations constitute unique paradigms to understand the molecular pathogenesis of CAA...
  4. Srivastava D, Darst S. Derepression of bacterial transcription-repair coupling factor is associated with a profound conformational change. J Mol Biol. 2011;406:275-84 pubmed publisher
    ..We conclude that TRCF derepression is associated with profound conformational changes that primarily involve a reorganization of the interdomain interactions. ..
  5. Query C, Konarska M. CEF1/CDC5 alleles modulate transitions between catalytic conformations of the spliceosome. RNA. 2012;18:1001-13 pubmed publisher
  6. Kong X, Bousfiha A, Rouissi A, Itan Y, Abhyankar A, Bryant V, et al. A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease. PLoS ONE. 2013;8:e58286 pubmed publisher
    ..In conclusion, we identified twins with autosomal recessive AP-4 deficiency associated with HSP and mycobacterial disease, suggesting that AP-4 may play important role in the neurological and immunological systems. ..
  7. Abdel Wahab O, Gao J, Adli M, Dey A, Trimarchi T, Chung Y, et al. Deletion of Asxl1 results in myelodysplasia and severe developmental defects in vivo. J Exp Med. 2013;210:2641-59 pubmed publisher
    ..These findings underscore the importance of Asxl1 in Polycomb group function, development, and hematopoiesis. ..
  8. Raheja R, Liu Y, Hukkelhoven E, Yeh N, Koff A. The ability of TRIM3 to induce growth arrest depends on RING-dependent E3 ligase activity. Biochem J. 2014;458:537-45 pubmed publisher
    ..Thus the ability of TRIM3 to suppress growth is associated with its ability to ubiquitinate proteins. ..
  9. Jelinic P, Schlappe B, Conlon N, Tseng J, Olvera N, Dao F, et al. Concomitant loss of SMARCA2 and SMARCA4 expression in small cell carcinoma of the ovary, hypercalcemic type. Mod Pathol. 2016;29:60-6 pubmed publisher
    ..Taken together, our data suggest that concomitant loss of SMARCA2 and SMARCA4 is another hallmark of small cell carcinoma of the ovary, hypercalcemic type-a finding that offers new opportunities for therapeutic interventions. ..
  10. Jacobson E, Li P, Leon del Rio A, Rosenfeld M, Aggarwal A. Structure of Pit-1 POU domain bound to DNA as a dimer: unexpected arrangement and flexibility. Genes Dev. 1997;11:198-212 pubmed
    ..These features suggest the molecular basis of disease-causing mutations in Pit-1 and provide potential basis for the flexible allostery between protein domains and DNA sites in the activation of target genes. ..
  11. Hemann M, Bric A, Teruya Feldstein J, Herbst A, Nilsson J, Cordon Cardo C, et al. Evasion of the p53 tumour surveillance network by tumour-derived MYC mutants. Nature. 2005;436:807-11 pubmed
  12. Marks J, Gong Y, Chitale D, Golas B, McLellan M, Kasai Y, et al. Novel MEK1 mutation identified by mutational analysis of epidermal growth factor receptor signaling pathway genes in lung adenocarcinoma. Cancer Res. 2008;68:5524-8 pubmed publisher
    ..MEK1 mutants have not previously been reported in lung cancer and may provide a target for effective therapy in a small subset of patients with lung adenocarcinoma. ..
  13. Feske S, Picard C, Fischer A. Immunodeficiency due to mutations in ORAI1 and STIM1. Clin Immunol. 2010;135:169-82 pubmed publisher
  14. Burke T, Tsang S. Allelic and phenotypic heterogeneity in ABCA4 mutations. Ophthalmic Genet. 2011;32:165-74 pubmed publisher
    ..In this review the authors discuss the findings seen on examination and the disease features detected using various clinical tests. Important differential diagnoses are presented and unusual presentations of ABCA4 disease highlighted...
  15. Colicelli J, Goff S. Sequence and spacing requirements of a retrovirus integration site. J Mol Biol. 1988;199:47-59 pubmed
    ..After several rounds of virus replication, each of the insertion mutants gave rise to pseudorevertants with new alterations at the integration site. ..
  16. Miesel L, Weisbrod T, Marcinkeviciene J, Bittman R, Jacobs W. NADH dehydrogenase defects confer isoniazid resistance and conditional lethality in Mycobacterium smegmatis. J Bacteriol. 1998;180:2459-67 pubmed
    ..tuberculosis complex. The genetic data presented here indicate that defects in NADH oxidation cause all of the mutant traits and that an increase in the NADH/NAD+ ratio confers INH resistance...
  17. Chen C, Li Y, Chen J, Hou M, Papadaki P, Chang E. Moe1, a conserved protein in Schizosaccharomyces pombe, interacts with a Ras effector, Scd1, to affect proper spindle formation. Proc Natl Acad Sci U S A. 1999;96:517-22 pubmed
    ..Human and nematode Moe1 both can substitute for yeast Moe1, indicating that the function of Moe1 in spindle formation has been conserved substantially during evolution. ..
  18. Andrioli L, Vasisht V, Theodosopoulou E, Oberstein A, Small S. Anterior repression of a Drosophila stripe enhancer requires three position-specific mechanisms. Development. 2002;129:4931-40 pubmed
    ..These results suggest a common mechanism for preventing anterior activation of three different eve enhancers. ..
  19. Berlin A, Paoletti A, Chang F. Mid2p stabilizes septin rings during cytokinesis in fission yeast. J Cell Biol. 2003;160:1083-92 pubmed
    ..No genetic interactions were found between mid2 and the related gene mid1. Thus, these studies identify a new factor responsible for the proper stability and function of septins during cytokinesis. ..
  20. Tahayato A, Sonneville R, Pichaud F, Wernet M, Papatsenko D, Beaufils P, et al. Otd/Crx, a dual regulator for the specification of ommatidia subtypes in the Drosophila retina. Dev Cell. 2003;5:391-402 pubmed
    ..Therefore, Otd is a key player in the terminal differentiation of subtypes of photoreceptors by regulating rhodopsin expression, a function reminiscent of the role of one of its mammalian homologs, Crx, in eye development...
  21. Wang X, Michels C. Mutations in SIN4 and RGR1 cause constitutive expression of MAL structural genes in Saccharomyces cerevisiae. Genetics. 2004;168:747-57 pubmed
    ..A sin4Delta mutation is unable to suppress the defects in MAL gene expression resulting from loss of the Swi/Snf complex component Snf2p. The role of the Mediator in MAL gene regulation is discussed. ..
  22. Miller F, Kentsis A, Osman R, Pan Z. Inactivation of VHL by tumorigenic mutations that disrupt dynamic coupling of the pVHL.hypoxia-inducible transcription factor-1alpha complex. J Biol Chem. 2005;280:7985-96 pubmed
  23. Sims A, Spiteri E, Sims R, Arita A, Lach F, Landers T, et al. FANCI is a second monoubiquitinated member of the Fanconi anemia pathway. Nat Struct Mol Biol. 2007;14:564-7 pubmed
    ..Biallelic mutations in the gene coding for this protein were found in cells from four FA patients, including an FA-I reference cell line. ..
  24. Kok F, Oster E, Mentzer L, Hsieh J, Henry C, Sirotkin H. The role of the SPT6 chromatin remodeling factor in zebrafish embryogenesis. Dev Biol. 2007;307:214-26 pubmed
    ..However, additional Spt6 mutant phenotypes are likely caused by vital functions of Spt6 in other pathways. ..
  25. Jang I, Yang S, Yang J, Chua N. Independent and interdependent functions of LAF1 and HFR1 in phytochrome A signaling. Genes Dev. 2007;21:2100-11 pubmed
  26. Sulis M, Williams O, Palomero T, Tosello V, Pallikuppam S, Real P, et al. NOTCH1 extracellular juxtamembrane expansion mutations in T-ALL. Blood. 2008;112:733-40 pubmed publisher
    ..Overall, these results show a novel mechanism of NOTCH1 activation in T-ALL and provide further insight on the mechanisms that control the activation of NOTCH1 signaling. ..
  27. Ramirez A, Shuman S, Schwer B. Human RNA 5'-kinase (hClp1) can function as a tRNA splicing enzyme in vivo. RNA. 2008;14:1737-45 pubmed publisher
  28. Magrane J, Hervias I, Henning M, Damiano M, Kawamata H, Manfredi G. Mutant SOD1 in neuronal mitochondria causes toxicity and mitochondrial dynamics abnormalities. Hum Mol Genet. 2009;18:4552-64 pubmed publisher
    ..Our findings demonstrate that mutant SOD1 localized in the IMS is sufficient to determine mitochondrial abnormalities and neuronal toxicity, and contributes to ALS pathogenesis. ..
  29. Wang J, Brent J, Tomlinson A, Shneider N, McCabe B. The ALS-associated proteins FUS and TDP-43 function together to affect Drosophila locomotion and life span. J Clin Invest. 2011;121:4118-26 pubmed publisher
    ..Our results establish that FUS and TDP-43 function together in vivo and suggest that molecular pathways requiring the combined activities of both of these proteins may be disrupted in ALS and FTD. ..
  30. Jankovic M, Feldhahn N, Oliveira T, Silva I, Kieffer Kwon K, Yamane A, et al. 53BP1 alters the landscape of DNA rearrangements and suppresses AID-induced B cell lymphoma. Mol Cell. 2013;49:623-31 pubmed publisher
    ..Moreover, loss of 53BP1 alters the translocatome by increasing rearrangements to intergenic regions. ..
  31. Minikel E, Vallabh S, Lek M, Estrada K, Samocha K, Sathirapongsasuti J, et al. Quantifying prion disease penetrance using large population control cohorts. Sci Transl Med. 2016;8:322ra9 pubmed publisher
  32. Karess R, Chang X, Edwards K, Kulkarni S, Aguilera I, Kiehart D. The regulatory light chain of nonmuscle myosin is encoded by spaghetti-squash, a gene required for cytokinesis in Drosophila. Cell. 1991;65:1177-89 pubmed
    ..These studies provide genetic proof that MRLC-C is required for cytokinesis, suggest a role for the protein in regulating contractile ring function, and establish a genetic system to evaluate its function. ..
  33. Schwer B, Saha N, Mao X, Chen H, Shuman S. Structure-function analysis of yeast mRNA cap methyltransferase and high-copy suppression of conditional mutants by AdoMet synthase and the ubiquitin conjugating enzyme Cdc34p. Genetics. 2000;155:1561-76 pubmed
    ..These findings suggest a novel role for Cdc34p in gene expression and engender a model whereby cap methylation or cap utilization is negatively regulated by a factor that is degraded when Cdc34p is overexpressed. ..
  34. Wu K, Guimet D, Hearing P. The adenovirus L4-33K protein regulates both late gene expression patterns and viral DNA packaging. J Virol. 2013;87:6739-47 pubmed publisher
    ..These results demonstrate the multifunctional nature of the L4-33K protein and its involvement in several different and critical aspects of viral infection. ..
  35. Baylies M, Vosshall L, Sehgal A, Young M. New short period mutations of the Drosophila clock gene per. Neuron. 1992;9:575-81 pubmed
    ..Possibly mutations in the region eliminate a regulatory function provided by this segment, or substantially increase stability of the mutant protein. ..
  36. Bahary N, Leibel R, Joseph L, Friedman J. Molecular mapping of the mouse db mutation. Proc Natl Acad Sci U S A. 1990;87:8642-6 pubmed
  37. Mahmoud N, Bilinski R, Churchill M, Edelmann W, Kucherlapati R, Bertagnolli M. Genotype-phenotype correlation in murine Apc mutation: differences in enterocyte migration and response to sulindac. Cancer Res. 1999;59:353-9 pubmed
    ..These data also suggest that the effectiveness of chemopreventive agents in preventing Apc-related tumor formation may depend on which type of mutation is present. ..
  38. Fang L, Davey M, O Donnell M. Replisome assembly at oriC, the replication origin of E. coli, reveals an explanation for initiation sites outside an origin. Mol Cell. 1999;4:541-53 pubmed
    ..This observation generalizes to many systems, prokaryotic and eukaryotic. Heterogeneous initiation sites are likely explained by primase functioning with a moving helicase target. ..
  39. Satoda M, Zhao F, Diaz G, Burn J, Goodship J, Davidson H, et al. Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus. Nat Genet. 2000;25:42-6 pubmed
    ..Our work shows that TFAP2B has a role in ductal, facial and limb development and suggests that Char syndrome results from derangement of neural-crest-cell derivatives. ..
  40. Liang X, Lu Y, Neubert T, Resh M. Mass spectrometric analysis of GAP-43/neuromodulin reveals the presence of a variety of fatty acylated species. J Biol Chem. 2002;277:33032-40 pubmed
    ..These data reveal the heterogeneous nature of S-acylation in vivo and illustrate the power of mass spectrometry for identification of key regulatory protein modifications. ..
  41. Lei S, Dubeykovskiy A, Chakladar A, Wojtukiewicz L, Wang T. The murine gastrin promoter is synergistically activated by transforming growth factor-beta/Smad and Wnt signaling pathways. J Biol Chem. 2004;279:42492-502 pubmed
    ..Thus, the Wnt signaling pathway is able to activate some target genes through its actions as a co-activator at non-TCF sites and has the potential to profoundly alter transcriptional responses to TGF-beta signaling. ..
  42. Chang S, Johnston R, Frøkjaer Jensen C, Lockery S, Hobert O. MicroRNAs act sequentially and asymmetrically to control chemosensory laterality in the nematode. Nature. 2004;430:785-9 pubmed
    ..Thus, an inverse distribution of two sequentially acting miRNAs in two bilaterally symmetric neurons controls laterality of the nematode chemosensory system. ..
  43. Huangfu D, Anderson K. Cilia and Hedgehog responsiveness in the mouse. Proc Natl Acad Sci U S A. 2005;102:11325-30 pubmed
  44. Seu L, Pitt G. Dose-dependent and isoform-specific modulation of Ca2+ channels by RGK GTPases. J Gen Physiol. 2006;128:605-13 pubmed
    ..Together, these results offer new insights into the molecular mechanism of RGK-mediated Ca(2+) channel current modulation. ..
  45. Jaiswal J, Marlow G, Summerill G, Mahjneh I, Mueller S, Hill M, et al. Patients with a non-dysferlin Miyoshi myopathy have a novel membrane repair defect. Traffic. 2007;8:77-88 pubmed
  46. Feldman M, Terry D, Altman R, Blanchard S. Aminoglycoside activity observed on single pre-translocation ribosome complexes. Nat Chem Biol. 2010;6:54-62 pubmed publisher
    ..These new insights help explain why closely related aminoglycosides elicit pleiotropic translation activities and demonstrate the potential utility of smFRET as a tool for dissecting the mechanisms of antibiotic action. ..
  47. Levy B, Drilon A, Makarian L, Patel A, Grossbard M. Systemic approaches for multifocal bronchioloalveolar carcinoma: is there an appropriate target?. Oncology (Williston Park). 2010;24:888-98, 900 pubmed
    ..It also includes the first proposed treatment paradigm that integrates both EGFR mutational status and the sub-histologies, mucinous and nonmucinous BAC. ..
  48. Katsel P, Tan W, Abazyan B, Davis K, Ross C, Pletnikov M, et al. Expression of mutant human DISC1 in mice supports abnormalities in differentiation of oligodendrocytes. Schizophr Res. 2011;130:238-49 pubmed publisher
    ..Thus, OLG function may be perturbed by mutant hDISC1 in a model system that provides new avenues for studying aspects of the pathogenesis of SZ. ..
  49. Oikonomou G, Perens E, Lu Y, Watanabe S, Jorgensen E, Shaham S. Opposing activities of LIT-1/NLK and DAF-6/patched-related direct sensory compartment morphogenesis in C. elegans. PLoS Biol. 2011;9:e1001121 pubmed publisher
    ..Our results suggest that the opposing daf-6 and lit-1 glial pathways act together to control sensory compartment size. ..
  50. Shaw P, Feske S. Regulation of lymphocyte function by ORAI and STIM proteins in infection and autoimmunity. J Physiol. 2012;590:4157-67 pubmed publisher
    ..This review provides a concise discussion of the role of CRAC channels in these lymphocyte populations and the regulation of adaptive immune responses to infection, in autoimmunity and inflammation. ..
  51. Terrenoire C, Wang K, Tung K, Chung W, Pass R, Lu J, et al. Induced pluripotent stem cells used to reveal drug actions in a long QT syndrome family with complex genetics. J Gen Physiol. 2013;141:61-72 pubmed publisher
  52. Liu X, Wu Y, Yao S, Levine A, Kirschenbaum A, Collier L, et al. Androgens up-regulate transcription of the Notch inhibitor Numb in C2C12 myoblasts via Wnt/?-catenin signaling to T cell factor elements in the Numb promoter. J Biol Chem. 2013;288:17990-8 pubmed publisher
    ..In addition, the data identify Numb as a novel target gene of the Wnt signaling pathway by which Wnts would be able to inhibit Notch signaling. ..
  53. Tie J, Kinde I, Wang Y, Wong H, Roebert J, Christie M, et al. Circulating tumor DNA as an early marker of therapeutic response in patients with metastatic colorectal cancer. Ann Oncol. 2015;26:1715-22 pubmed publisher
    ..7 versus 8.1 months; HR = 1.87; P = 0.266). ctDNA is detectable in a high proportion of treatment naïve mCRC patients. Early changes in ctDNA during first-line chemotherapy predict the later radiologic response. ..
  54. Chen Y, Sadow P, Suh H, Lee K, Choi J, Suh Y, et al. BRAF(V600E) Is Correlated with Recurrence of Papillary Thyroid Microcarcinoma: A Systematic Review, Multi-Institutional Primary Data Analysis, and Meta-Analysis. Thyroid. 2016;26:248-55 pubmed publisher
    ..BRAF mutation may be helpful in risk-stratifying patients with PTMC for surgical management versus observation. ..
  55. Vivante A, Mann N, Yonath H, Weiss A, Getwan M, Kaminski M, et al. A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation of Retinoic Acid Signaling. J Am Soc Nephrol. 2017;28:2364-2376 pubmed publisher
  56. Hoey T, Warrior R, Manak J, Levine M. DNA-binding activities of the Drosophila melanogaster even-skipped protein are mediated by its homeo domain and influenced by protein context. Mol Cell Biol. 1988;8:4598-607 pubmed
    ..We propose that the protein context of the homeo domain can influence its DNA-binding properties. ..
  57. Zhang Y, Emmons S. Specification of sense-organ identity by a Caenorhabditis elegans Pax-6 homologue. Nature. 1995;377:55-9 pubmed
    ..Its function in this context could be to regulate the expression of cell recognition and adhesion proteins required for sense-organ assembly...
  58. Wei Y, Yu L, Bowen J, Gorovsky M, Allis C. Phosphorylation of histone H3 is required for proper chromosome condensation and segregation. Cell. 1999;97:99-109 pubmed
    ..These results demonstrate that H3 serine 10 phosphorylation is causally linked to chromosome condensation and segregation in vivo and is required for proper chromosome dynamics. ..
  59. Rosenblum J, Blobel G. Autoproteolysis in nucleoporin biogenesis. Proc Natl Acad Sci U S A. 1999;96:11370-5 pubmed
    ..Although apparently unrelated evolutionarily, Nup98 has converged on an autoproteolytic biogenesis mechanism similar to that of hedgehog proteins, the inteins, and the N-terminal nucleophile proteins. ..
  60. Pierce A, Hu P, Han M, Ellis N, Jasin M. Ku DNA end-binding protein modulates homologous repair of double-strand breaks in mammalian cells. Genes Dev. 2001;15:3237-42 pubmed
    ..Neither sister-chromatid exchange nor gene-targeting frequencies show a dependence on these NHEJ proteins. A Ku-modulated two-ended versus one-ended chromosome break model is presented to explain these results. ..
  61. Brown L, Hodge S, Johnson W, Guy S, Nye J, Brown S. Possible association of NTDs with a polyhistidine tract polymorphism in the ZIC2 gene. Am J Med Genet. 2002;108:128-31 pubmed
    ..Our sample was too small to reach definitive conclusions, but the evidence is sufficiently intriguing to encourage further research. If this association is confirmed, subtle alterations in ZIC2 activity may confer a risk of NTD. ..
  62. Kalinina E, Fricker L. Palmitoylation of carboxypeptidase D. Implications for intracellular trafficking. J Biol Chem. 2003;278:9244-9 pubmed
    ..Thus, the covalent attachment of palmitic acid to the Cys residues of CPD has a functional significance in the trafficking of the protein. ..
  63. Nesi D, Hsu Y, Stebbins C. Assembly and function of a bacterial genotoxin. Nature. 2004;429:429-33 pubmed publisher
    ..The holotoxin possesses a steric block of the CdtB active site by means of a non-globular extension of the CdtC subunit, and we identify putative DNA binding residues in CdtB that are essential for toxin activity...
  64. Kiaei M, Kipiani K, Calingasan N, Wille E, Chen J, Heissig B, et al. Matrix metalloproteinase-9 regulates TNF-alpha and FasL expression in neuronal, glial cells and its absence extends life in a transgenic mouse model of amyotrophic lateral sclerosis. Exp Neurol. 2007;205:74-81 pubmed
    ..This study provides new mechanism and suggests that MMP inhibitors may offer a new therapeutic strategy for ALS. ..
  65. Guo X, Monteleone M, Klotzsche M, Kamionka A, Hillen W, Braunstein M, et al. Silencing Mycobacterium smegmatis by using tetracycline repressors. J Bacteriol. 2007;189:4614-23 pubmed
  66. Zhang H, Emmons S. Regulation of the Caenorhabditis elegans posterior Hox gene egl-5 by microRNA and the polycomb-like gene sop-2. Dev Dyn. 2009;238:595-603 pubmed publisher
  67. Schönleben F, Qiu W, Allendorf J, Chabot J, Remotti H, Su G. Molecular analysis of PIK3CA, BRAF, and RAS oncogenes in periampullary and ampullary adenomas and carcinomas. J Gastrointest Surg. 2009;13:1510-6 pubmed publisher
  68. Antonescu C, Yoshida A, Guo T, Chang N, Zhang L, Agaram N, et al. KDR activating mutations in human angiosarcomas are sensitive to specific kinase inhibitors. Cancer Res. 2009;69:7175-9 pubmed publisher
    ..These data provide a basis for the activity of vascular endothelial growth factor receptor-directed therapy in the treatment of primary and radiation-induced AS. ..
  69. Andreson B, Gupta A, Georgieva B, Rothstein R. The ribonucleotide reductase inhibitor, Sml1, is sequentially phosphorylated, ubiquitylated and degraded in response to DNA damage. Nucleic Acids Res. 2010;38:6490-501 pubmed publisher
  70. Bae G, Domené S, Roessler E, Schachter K, Kang J, Muenke M, et al. Mutations in CDON, encoding a hedgehog receptor, result in holoprosencephaly and defective interactions with other hedgehog receptors. Am J Hum Genet. 2011;89:231-40 pubmed publisher
    ..Our findings argue that CDON must associate with both ligand and other hedgehog-receptor components, particularly PTCH1, for signaling to occur and that disruption of the latter interactions is a mechanism of HPE...
  71. Domingues C, Ryoo H. Drosophila BRUCE inhibits apoptosis through non-lysine ubiquitination of the IAP-antagonist REAPER. Cell Death Differ. 2012;19:470-7 pubmed publisher
    ..Our results indicate that dBruce inhibits apoptosis by promoting IAP-antagonist ubiquitination on unconventional acceptor sites. ..
  72. Sancho Pelluz J, Tosi J, Hsu C, Lee F, Wolpert K, Tabacaru M, et al. Mice with a D190N mutation in the gene encoding rhodopsin: a model for human autosomal-dominant retinitis pigmentosa. Mol Med. 2012;18:549-55 pubmed publisher
  73. Delmar M, Makita N. Cardiac connexins, mutations and arrhythmias. Curr Opin Cardiol. 2012;27:236-41 pubmed publisher
    ..Here, we review some of the current knowledge on the association between cardiac connexins and inherited arrhythmias. ..
  74. Zeiske T, Stafford K, Friesner R, Palmer A. Starting-structure dependence of nanosecond timescale intersubstate transitions and reproducibility of MD-derived order parameters. Proteins. 2013;81:499-509 pubmed publisher
  75. Jang I, Henriques R, Chua N. Three transcription factors, HFR1, LAF1 and HY5, regulate largely independent signaling pathways downstream of phytochrome A. Plant Cell Physiol. 2013;54:907-16 pubmed publisher
    ..Together, our results suggest that HY5 transmits phyA signals through an FHY1/FHL-independent pathway but it may also modulate FHY1/FHL signal through its interaction with HFR1 and LAF1. ..
  76. Farshidfar F, Zheng S, Gingras M, Newton Y, Shih J, Robertson A, et al. Integrative Genomic Analysis of Cholangiocarcinoma Identifies Distinct IDH-Mutant Molecular Profiles. Cell Rep. 2017;18:2780-2794 pubmed publisher
    ..Our studies reveal insights into the molecular pathogenesis and heterogeneity of cholangiocarcinoma and provide classification information of potential therapeutic significance. ..
  77. Silver R, Barel A, Lascu E, Ritchie E, Roboz G, Christos P, et al. The effect of initial molecular profile on response to recombinant interferon-? (rIFN?) treatment in early myelofibrosis. Cancer. 2017;123:2680-2687 pubmed publisher
    ..In this phase 2 study, for the first time, the authors correlate response to rIFN? treatment with driver and HMR mutations...
  78. Lane M, Kalderon D. Localization and functions of protein kinase A during Drosophila oogenesis. Mech Dev. 1995;49:191-200 pubmed
    ..The migration of a subset of follicle cells, the border cells, is also disrupted by germline PKA mutations, implying that nurse cell junctions provide an essential path for border cell migrations. ..
  79. Li J, Yen C, Liaw D, Podsypanina K, Bose S, Wang S, et al. PTEN, a putative protein tyrosine phosphatase gene mutated in human brain, breast, and prostate cancer. Science. 1997;275:1943-7 pubmed
    ..These homologies suggest that PTEN may suppress tumor cell growth by antagonizing protein tyrosine kinases and may regulate tumor cell invasion and metastasis through interactions at focal adhesions. ..
  80. Hernandez P, Gorlin R, Lukens J, Taniuchi S, Bohinjec J, Francois F, et al. Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease. Nat Genet. 2003;34:70-4 pubmed
  81. Gonzalez E, McGraw T. Insulin-modulated Akt subcellular localization determines Akt isoform-specific signaling. Proc Natl Acad Sci U S A. 2009;106:7004-9 pubmed publisher
    ..Together, our findings reveal the stimulus-induced subcellular compartmentalization of Akt kinases as a mechanism contributing to specify Akt isoform functions...
  82. Landau H, McNeely S, Nair J, Comenzo R, Asai T, Friedman H, et al. The checkpoint kinase inhibitor AZD7762 potentiates chemotherapy-induced apoptosis of p53-mutated multiple myeloma cells. Mol Cancer Ther. 2012;11:1781-8 pubmed publisher
    ..These data provide a rationale for testing these combinations in patients with relapsed and/or refractory multiple myeloma. ..
  83. Nik Zainal S, Davies H, Staaf J, Ramakrishna M, Glodzik D, Zou X, et al. Landscape of somatic mutations in 560 breast cancer whole-genome sequences. Nature. 2016;534:47-54 pubmed publisher
  84. Cheung H, Serano T, Cohen R. Evidence for a highly selective RNA transport system and its role in establishing the dorsoventral axis of the Drosophila egg. Development. 1992;114:653-61 pubmed
    ..None of the other identified genes involved in dorsoventral axis formation are required for K10 RNA transport.(ABSTRACT TRUNCATED AT 250 WORDS) ..
  85. Merrell K, Gonzales J, Wells S, Calame K, Herman G. Genetic analyses of tattered, an X-linked dominant, developmental mouse mutation. Mamm Genome. 1995;6:291-4 pubmed
    ..Fluorescent activated cell sorting (FACS) analysis and Western blotting of isolated splenocytes from Td/xid double heterozygotes rule out Tcfe3 as a likely candidate for the Td mutation. ..
  86. Hang H, Rauth S, Hopkins K, Lieberman H. Mutant alleles of Schizosaccharomyces pombe rad9(+) alter hydroxyurea resistance, radioresistance and checkpoint control. Nucleic Acids Res. 2000;28:4340-9 pubmed
    ..These results establish unique as well as overlapping functional domains within Rad9p and provide evidence that requirements of the protein for promoting resistance to radiation and HU are not identical. ..
  87. Loeffler J, Nelson D, Fischetti V. Rapid killing of Streptococcus pneumoniae with a bacteriophage cell wall hydrolase. Science. 2001;294:2170-2 pubmed
    ..Pal enzyme had little or no effect on microorganisms normally found in the human oropharynx, and Pal-resistant pneumococci could not be detected after extensive exposure to the enzyme...
  88. Kljuic A, Bazzi H, Sundberg J, Martinez Mir A, O Shaughnessy R, Mahoney M, et al. Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris. Cell. 2003;113:249-60 pubmed
    ..We provide evidence that desmoglein 4 is a key mediator of keratinocyte cell adhesion in the hair follicle, where it coordinates the transition from proliferation to differentiation. ..
  89. Runko E, Kaprielian Z. Caenorhabditis elegans VEM-1, a novel membrane protein, regulates the guidance of ventral nerve cord-associated axons. J Neurosci. 2004;24:9015-26 pubmed
    ..Consistent with these genetic data, we also show that VEM-1 is capable of physically interacting with UNC-40 but not SAX-3. ..
  90. Turner D, Zirvi M, Barany F, Elenitsas R, Seykora J. Detection of the BRAF V600E mutation in melanocytic lesions using the ligase detection reaction. J Cutan Pathol. 2005;32:334-9 pubmed
    ..The absence of the BRAF V600E mutation in Spitz's nevi may serve as a molecular signature to distinguish these lesions from common nevi, dysplastic nevi, and some types of malignant melanoma. ..
  91. Sidyelyeva G, Baker N, Fricker L. Characterization of the molecular basis of the Drosophila mutations in carboxypeptidase D. Effect on enzyme activity and expression. J Biol Chem. 2006;281:13844-52 pubmed
    ..Flies that retain the short form are viable, whereas flies that are missing all forms of CPD do not survive past the early larval stages. ..
  92. Schaffer J, Kamino H, Witkiewicz A, McNiff J, Orlow S. Mucocutaneous neuromas: an underrecognized manifestation of PTEN hamartoma-tumor syndrome. Arch Dermatol. 2006;142:625-32 pubmed
    ..Although the skin is the ectodermal structure most often affected by these autosomal dominant genodermatoses, abnormalities of neural tissues are frequently observed...