Experts and Doctors on mutation in Israel


Locale: Israel
Topic: mutation

Top Publications

  1. Raz E, Schejter E, Shilo B. Interallelic complementation among DER/flb alleles: implications for the mechanism of signal transduction by receptor-tyrosine kinases. Genetics. 1991;129:191-201 pubmed
    ..The mutation sites in four alleles showing positive interactions were localized. They identify regions within the protein which are likely to be important for these temporally distinct signal transduction processes. ..
  2. Maor Shoshani A, Reuven N, Tomer G, Livneh Z. Highly mutagenic replication by DNA polymerase V (UmuC) provides a mechanistic basis for SOS untargeted mutagenesis. Proc Natl Acad Sci U S A. 2000;97:565-70 pubmed
    ..This finding suggests that replication by pol V, in the presence of UmuD', RecA, and ssDNA-binding protein, is the basis of chromosomal SOS untargeted mutagenesis...
  3. Sibony M, Rubin B. Molecular basis for multiple resistance to acetolactate synthase-inhibiting herbicides and atrazine in Amaranthus blitoides (prostrate pigweed). Planta. 2003;216:1022-7 pubmed
    ..This unique phenomenon renders planning of rational weed management difficult or even impossible. ..
  4. Barzilay E, Ben Califa N, Supino Rosin L, Kashman Y, Hirschberg K, Elazar Z, et al. Geldanamycin-associated inhibition of intracellular trafficking is attributed to a co-purified activity. J Biol Chem. 2004;279:6847-52 pubmed
    ..Taken together, our data demonstrate that the inhibitory effects on protein maturation and intracellular trafficking, previously attributed to geldanamycin, are mediated by another distinct moiety. ..
  5. Niv Spector L, Gonen Berger D, Gourdou I, Biener E, Gussakovsky E, Benomar Y, et al. Identification of the hydrophobic strand in the A-B loop of leptin as major binding site III: implications for large-scale preparation of potent recombinant human and ovine leptin antagonists. Biochem J. 2005;391:221-30 pubmed publisher
  6. Golan G, Zharkov D, Feinberg H, Fernandes A, Zaika E, Kycia J, et al. Structure of the uncomplexed DNA repair enzyme endonuclease VIII indicates significant interdomain flexibility. Nucleic Acids Res. 2005;33:5006-16 pubmed
    ..Several local but functionally relevant structural changes are also evident in other parts of the enzyme. ..
  7. Kapri Pardes E, Naveh L, Adam Z. The thylakoid lumen protease Deg1 is involved in the repair of photosystem II from photoinhibition in Arabidopsis. Plant Cell. 2007;19:1039-47 pubmed
    ..In addition, they suggest that accumulation of Deg1 and FtsH proteases may be coordinated. ..
  8. Shtiegman K, Kochupurakkal B, Zwang Y, Pines G, Starr A, Vexler A, et al. Defective ubiquitinylation of EGFR mutants of lung cancer confers prolonged signaling. Oncogene. 2007;26:6968-78 pubmed
    ..Our data raise the possibility that refractoriness of L858R-EGFR to downregulation is due to enhanced heterodimerization with the oncogene product HER2, which leads to persistent stimulation. ..
  9. Abu Hamad S, Zaid H, Israelson A, Nahon E, Shoshan Barmatz V. Hexokinase-I protection against apoptotic cell death is mediated via interaction with the voltage-dependent anion channel-1: mapping the site of binding. J Biol Chem. 2008;283:13482-90 pubmed publisher
    ..Finally, these findings suggest that interference with the binding of HK-I to mitochondria by VDAC1-derived peptides may offer a novel strategy by which to potentiate the efficacy of conventional chemotherapeutic agents. ..

More Information

Publications264 found, 100 shown here

  1. Berginer V, Gross B, Morad K, Kfir N, Morkos S, Aaref S, et al. Chronic diarrhea and juvenile cataracts: think cerebrotendinous xanthomatosis and treat. Pediatrics. 2009;123:143-7 pubmed publisher
    ..Prevention is particularly significant in light of the availability of early genetic diagnosis and the devastating effects of this illness if not treated. ..
  2. Bar Yosef U, Levy J, Elbedour K, Ofir R, Carmi R, Birk O. Congenital glaucoma: CYP1B1 mutations in Israeli Bedouin kindreds. J Glaucoma. 2010;19:35-8 pubmed publisher
    ..To investigate CYP1B1 gene mutations in Arab-Bedouin Israeli patients with primary congenital glaucoma (PCG)...
  3. Aylon Y, Yabuta N, Besserglick H, Buganim Y, Rotter V, Nojima H, et al. Silencing of the Lats2 tumor suppressor overrides a p53-dependent oncogenic stress checkpoint and enables mutant H-Ras-driven cell transformation. Oncogene. 2009;28:4469-79 pubmed publisher
    ..Our findings suggest that Lats2 might have an important role in quenching H-Ras-induced transformation, whereas silencing of Lats2 expression might serve as a mechanism to enable tumor progression. ..
  4. Tirosh I, Sigal N, Barkai N. Divergence of nucleosome positioning between two closely related yeast species: genetic basis and functional consequences. Mol Syst Biol. 2010;6:365 pubmed publisher
    ..Our results provide evolutionary insights to the genetic determinants and regulatory function of nucleosome positioning...
  5. Feldshtein M, Elkrinawi S, Yerushalmi B, Marcus B, Vullo D, Romi H, et al. Hyperchlorhidrosis caused by homozygous mutation in CA12, encoding carbonic anhydrase XII. Am J Hum Genet. 2010;87:713-20 pubmed publisher
    ..Unlike the wild-type enzyme, which is not inhibited by chloride, bromide, or iodide (K(I)s of 73-215 mM), the mutant is inhibited in the submicromolar range by these anions (K(I)s of 0.37-0.73 mM). ..
  6. Fuchs Telem D, Stewart H, Rapaport D, Nousbeck J, Gat A, Gini M, et al. CEDNIK syndrome results from loss-of-function mutations in SNAP29. Br J Dermatol. 2011;164:610-6 pubmed publisher
    ..Our present and previous data position SNAP29 as an essential component of the epidermal differentiation machinery. ..
  7. Shkolnik Inbar D, Bar Zvi D. Expression of ABSCISIC ACID INSENSITIVE 4 (ABI4) in developing Arabidopsis seedlings. Plant Signal Behav. 2011;6:694-6 pubmed
    ..We thus constructed transgenic Arabidopsis plants expressing an ABI4:GUS construct, and followed ABI4 promoter activity during seedling development, focusing on the roots. ..
  8. Gadir N, Haim Vilmovsky L, Kraut Cohen J, Gerst J. Localization of mRNAs coding for mitochondrial proteins in the yeast Saccharomyces cerevisiae. RNA. 2011;17:1551-65 pubmed publisher
    ..Thus, endogenously expressed mRNAs are targeted to the mitochondria in vivo, and multiple factors contribute to mMP localization. ..
  9. Zalckvar E, Paulus C, Tillo D, Asbach Nitzsche A, Lubling Y, Winterling C, et al. Nucleosome maps of the human cytomegalovirus genome reveal a temporal switch in chromatin organization linked to a major IE protein. Proc Natl Acad Sci U S A. 2013;110:13126-31 pubmed publisher
    ..These results provide a framework of spatial and temporal nucleosome organization across the genome of a major human pathogen and suggest that an hCMV major IE protein governs overall viral chromatin structure and function. ..
  10. Amsalem S, Bakrhat A, Otani T, Hayashi S, Goldstein B, Abdu U. Drosophila oocyte polarity and cytoskeleton organization require regulation of Ik2 activity by Spn-F and Javelin-like. Mol Cell Biol. 2013;33:4371-80 pubmed publisher
    ..In summary, our results demonstrate that Spn-F mediates the interaction between Ik2 and Jvl to control Ik2 activity. ..
  11. Peles E, Levy R, Or E, Ullrich A, Yarden Y. Oncogenic forms of the neu/HER2 tyrosine kinase are permanently coupled to phospholipase C gamma. EMBO J. 1991;10:2077-86 pubmed
    ..Based on the presented results we suggest that the mechanism of cellular transformation by the neu/HER2 receptor involves tyrosine phosphorylation and activation of PLC gamma. ..
  12. Maya R, Balass M, Kim S, Shkedy D, Leal J, Shifman O, et al. ATM-dependent phosphorylation of Mdm2 on serine 395: role in p53 activation by DNA damage. Genes Dev. 2001;15:1067-77 pubmed
    ..Our findings imply that activation of p53 by DNA damage is achieved, in part, through attenuation of the p53-inhibitory potential of Mdm2. ..
  13. Miron J, Jacobovitch J, Bayer E, Lamed R, Morrison M, Ben Ghedalia D. Subcellular distribution of glycanases and related components in Ruminococcus albus SY3 and their role in cell adhesion to cellulose. J Appl Microbiol. 2001;91:677-85 pubmed
    ..A potential cellulosomal scaffoldin candidate was identified in R. albus SY3. Several glycanase-related proteins and more than one mechanism appear to be involved in the adhesion of R. albus SY3 to cellulose. ..
  14. Liu Y, Herschkovitz A, Boura Halfon S, Ronen D, Paz K, LeRoith D, et al. Serine phosphorylation proximal to its phosphotyrosine binding domain inhibits insulin receptor substrate 1 function and promotes insulin resistance. Mol Cell Biol. 2004;24:9668-81 pubmed
  15. Kogan A, Gdalevsky G, Cohen Luria R, Parola A, Goldgur Y. Crystallization and preliminary X-ray analysis of the apo form of Escherichia coli tryptophanase. Acta Crystallogr D Biol Crystallogr. 2004;60:2073-5 pubmed
    ..9 A. Data sets of wild-type crystals soaked with L-tryptophan or pyridoxal phosphate were collected, as well as of Y74F mutant soaked with both. ..
  16. Pilpel Y, Segal M. The role of LPA1 in formation of synapses among cultured hippocampal neurons. J Neurochem. 2006;97:1379-92 pubmed
    ..We propose that LPA1 may play a role in the formation and modulation of the dendritic spine synapse. ..
  17. Basel Vanagaite L, Muncher L, Straussberg R, Pasmanik Chor M, Yahav M, Rainshtein L, et al. Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis. Ann Neurol. 2006;60:214-22 pubmed
    ..Our findings suggest that p62 has a cell type-specific role and is important in the degeneration of the basal ganglia in humans. ..
  18. Panikashvili D, Savaldi Goldstein S, Mandel T, Yifhar T, Franke R, Höfer R, et al. The Arabidopsis DESPERADO/AtWBC11 transporter is required for cutin and wax secretion. Plant Physiol. 2007;145:1345-60 pubmed
    ..Thus, DSO is not only essential for developmental plasticity but also plays a vital role in stress responses...
  19. Izhar L, Goldsmith M, Dahan R, Geacintov N, Lloyd R, Livneh Z. Analysis of strand transfer and template switching mechanisms of DNA gap repair by homologous recombination in Escherichia coli: predominance of strand transfer. J Mol Biol. 2008;381:803-9 pubmed publisher
    ..A small but significant portion of HR gap repair appears to occur via a template switching mechanism. ..
  20. Frumkin D, Wasserstrom A, Itzkovitz S, Stern T, Harmelin A, Eilam R, et al. Cell lineage analysis of a mouse tumor. Cancer Res. 2008;68:5924-31 pubmed publisher
  21. Nejidat A, Saadi I, Ronen Z. Effect of flagella expression on adhesion of Achromobacter piechaudii to chalk surfaces. J Appl Microbiol. 2008;105:2009-14 pubmed publisher
    ..To examine flagella role and cell motility in adhesion of Achromobacter piechaudii to chalk...
  22. Reish O, Slatkin M, Chapman Shimshoni D, Elizur A, Chioza B, Castleman V, et al. Founder mutation(s) in the RSPH9 gene leading to primary ciliary dyskinesia in two inbred Bedouin families. Ann Hum Genet. 2010;74:117-25 pubmed publisher
    ..Based on the available data, the population genetic analysis does not strongly favour one conclusion over the other. ..
  23. Zhidkov I, Nagar T, Mishmar D, Rubin E. MitoBamAnnotator: A web-based tool for detecting and annotating heteroplasmy in human mitochondrial DNA sequences. Mitochondrion. 2011;11:924-8 pubmed publisher
    ..MitoBamAnnotator provides the user with a comprehensively annotated overview of mitochondrial genetic variation, allowing for an in-depth analysis with no prior knowledge in programming. ..
  24. Bar Joseph I, Pras E, Reznik Wolf H, Marek Yagel D, Abu Horvitz A, Dushnitzky M, et al. Mutations in the sarcosine dehydrogenase gene in patients with sarcosinemia. Hum Genet. 2012;131:1805-10 pubmed publisher
    ..We have shown for the first time that mutations in the SARDH gene are associated with sarcosinemia. In addition, our results indicate that other genes are most probably involved in the pathogenesis of this condition. ..
  25. Reddy P, Allon R, Mevarech M, Mendelovitz S, Sato Y, Gutnick D. Cloning and expression in Escherichia coli of an esterase-coding gene from the oil-degrading bacterium Acinetobacter calcoaceticus RAG-1. Gene. 1989;76:145-52 pubmed
    ..The fact that the production of active esterase depended on the orientation of the est gene within the vector suggested that transcription proceeded from the tet promoter in pBR322. ..
  26. Glazer L, Shilo B. Hedgehog signaling patterns the tracheal branches. Development. 2001;128:1599-606 pubmed
    ..Signaling by several pathways, including the Hh pathway, thus serves to subdivide the uniform population of tracheal cells into distinct cell types that will subsequently be recruited into the different branches. ..
  27. Bargal R, Goebel H, Latta E, Bach G. Mucolipidosis IV: novel mutation and diverse ultrastructural spectrum in the skin. Neuropediatrics. 2002;33:199-202 pubmed
    ..Mutation analysis revealed a homozygous novel mutation of a 34 bp deletion and 3 bp insertion in exon 2 of the MCOLN1 gene, perhaps the reason for this unusual clinical and morphological phenotype...
  28. Farago M, Nahari T, Hammel C, Cole C, Choder M. Rpb4p, a subunit of RNA polymerase II, mediates mRNA export during stress. Mol Biol Cell. 2003;14:2744-55 pubmed
    ..Both functions of Rpb4p are required to maintain cell viability during stress. We propose that Rpb4p participates in the cellular responses to stress at the interface of the transcription and the export machineries. ..
  29. Mayo A, Setty Y, Shavit S, Zaslaver A, Alon U. Plasticity of the cis-regulatory input function of a gene. PLoS Biol. 2006;4:e45 pubmed
    ..The input function that we studied thus appears to be plastic, in the sense that many of the mutations do not ruin the regulation completely but rather result in new ways to integrate the inputs. ..
  30. Farver O, Vitu E, Wherland S, Fass D, Pecht I. Electron transfer reactivity of the Arabidopsis thaliana sulfhydryl oxidase AtErv1. J Biol Chem. 2009;284:2098-105 pubmed publisher
    ..Elimination of the active site disulfide bridge increased the stability of the flavin semiquinone making it a long-lived product. Relevance of these observations to the design and function of the sulfhydryl oxidases is discussed. ..
  31. Blumenthal J, Behar L, Elliott E, Ginzburg I. Dcp1a phosphorylation along neuronal development and stress. FEBS Lett. 2009;583:197-201 pubmed publisher
    ..These findings suggest a novel post-translational modification that may influence the function of Dcp1a in response to various physiological cues. ..
  32. Peretz G, Arie L, Bakhrat A, Abdu U. The Drosophila hus1 gene is required for homologous recombination repair during meiosis. Mech Dev. 2009;126:677-86 pubmed publisher
    ..Together, our results imply that hus1 is required for repair of DSBs during meiotic recombination...
  33. Eitan R, Michaelson Cohen R, Levavi H, Beller U. The counseling and management of young healthy BRCA mutation carriers. Int J Gynecol Cancer. 2009;19:1156-9 pubmed publisher
    ..In this review, we discuss these issues and summarize contemporary recommendations. ..
  34. Panikashvili D, Shi J, Schreiber L, Aharoni A. The Arabidopsis DCR encoding a soluble BAHD acyltransferase is required for cutin polyester formation and seed hydration properties. Plant Physiol. 2009;151:1773-89 pubmed publisher
    ..Therefore, this study extends our knowledge regarding the functionality of the cuticular layer and the formation of its major constituent the polymer cutin. ..
  35. Ben Gera H, Shwartz I, Shao M, Shani E, Estelle M, Ori N. ENTIRE and GOBLET promote leaflet development in tomato by modulating auxin response. Plant J. 2012;70:903-15 pubmed publisher
  36. Minnerop M, Kurzwelly D, Wagner H, Soehn A, Reichbauer J, Tao F, et al. Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia. Brain. 2017;140:1561-1578 pubmed publisher
    ..Furthermore, our results demonstrate that substantial progress in revealing the causes of Mendelian diseases can be made by exploring the non-coding sequences of the human genome. ..
  37. Segal A, Zivelin A, Rosenberg N, Ginsburg D, Shpilberg O, Seligsohn U. A mutation in LMAN1 (ERGIC-53) causing combined factor V and factor VIII deficiency is prevalent in Jews originating from the island of Djerba in Tunisia. Blood Coagul Fibrinolysis. 2004;15:99-102 pubmed
    ..0123), but in none of 180 Iranian Jews examined. In view of the relatively low frequency of the mutations in the respective populations it seems reasonable to advocate carrier detection and prenatal diagnosis only in affected families. ..
  38. Tamary H, Dgany O, Proust A, Krasnov T, Avidan N, Eidelitz Markus T, et al. Clinical and molecular variability in congenital dyserythropoietic anaemia type I. Br J Haematol. 2005;130:628-34 pubmed
    ..However, in most patients studied, no correlation could be established between the expected levels of codanin-1 or the nature of the mutation and the severity of the clinical manifestations. ..
  39. Peretz G, Bakhrat A, Abdu U. Expression of the Drosophila melanogaster GADD45 homolog (CG11086) affects egg asymmetric development that is mediated by the c-Jun N-terminal kinase pathway. Genetics. 2007;177:1691-702 pubmed
    ..We found that eggshell polarity defects caused by D-GADD45 overexpression were dominantly suppressed by mutations in the JNK pathway, suggesting that the JNK pathway has a novel, D-GADD45-mediated, function in the Drosophila germline. ..
  40. Levy S, Barkai N. Coordination of gene expression with growth rate: a feedback or a feed-forward strategy?. FEBS Lett. 2009;583:3974-8 pubmed publisher
    ..The capacity to anticipate and prepare for changing conditions was probably a major selection force during yeast evolution. ..
  41. Dodiuk Gad R, Cohen Barak E, Khayat M, Milo H, Amariglio Diskin L, Danial Faran N, et al. Darier disease in Israel: combined evaluation of genetic and neuropsychiatric aspects. Br J Dermatol. 2016;174:562-8 pubmed publisher
    ..Although no clear genotype-phenotype correlation was found, the results point to a major effect of genetic background on psychiatric phenotype, together with other modifiers. ..
  42. Perez Y, Shorer Z, Liani Leibson K, Chabosseau P, Kadir R, Volodarsky M, et al. SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome. Brain. 2017;140:928-939 pubmed publisher
  43. Laron Z, Kauli R, Lapkina L, Werner H. IGF-I deficiency, longevity and cancer protection of patients with Laron syndrome. Mutat Res Rev Mutat Res. 2017;772:123-133 pubmed publisher
    ..It is hypothesized that LS is an old disease originating in Indonesia and that the mutated gene spread to South Asia, the Middle East, the Mediterranean region and South America. ..
  44. Shaulian E, Zauberman A, Ginsberg D, Oren M. Identification of a minimal transforming domain of p53: negative dominance through abrogation of sequence-specific DNA binding. Mol Cell Biol. 1992;12:5581-92 pubmed
    ..These findings suggest that p53-mediated transformation may operate through a dominant negative mechanism, involving the generation of DNA binding-incompetent oligomers. ..
  45. Caspi M, Coquelle F, Koifman C, Levy T, Arai H, Aoki J, et al. LIS1 missense mutations: variable phenotypes result from unpredictable alterations in biochemical and cellular properties. J Biol Chem. 2003;278:38740-8 pubmed
    ..Our results implicate that there are probably different biochemical and cellular mechanisms obstructed in each patient yielding the varied lissencephaly phenotypes. ..
  46. Bakhanashvili M, Novitsky E, Lilling G, Rahav G. P53 in cytoplasm may enhance the accuracy of DNA synthesis by human immunodeficiency virus type 1 reverse transcriptase. Oncogene. 2004;23:6890-9 pubmed
    ..Furthermore, the decrease in error-prone DNA synthesis with RT in the presence of external exonuclease, provided by cytoplasmic p53, may partially account for lower mutation rate of HIV-1 observed in vivo. ..
  47. Shats I, Milyavsky M, Tang X, Stambolsky P, Erez N, Brosh R, et al. p53-dependent down-regulation of telomerase is mediated by p21waf1. J Biol Chem. 2004;279:50976-85 pubmed
    ..Inhibition of histone deacetylases also interfered with the repression of hTERT by p53. Therefore, our results suggest that repression of hTERT by endogenous p53 is mediated by p21 and E2F. ..
  48. Fait A, Yellin A, Fromm H. GABA shunt deficiencies and accumulation of reactive oxygen intermediates: insight from Arabidopsis mutants. FEBS Lett. 2005;579:415-20 pubmed
    ..These results provide novel evidence for the relationship between the GABA shunt and ROI, which may, in part, explain the phenotype of SSADH-deficient plants and animals...
  49. Abdu U, Bar D, Sch pbach T. spn-F encodes a novel protein that affects oocyte patterning and bristle morphology in Drosophila. Development. 2006;133:1477-84 pubmed publisher
    ..Our results show that we have identified a novel protein that affects oocyte axis determination and the organization of microtubules during Drosophila oogenesis...
  50. Hujeirat Y, Hess O, Shalev S, Tenenbaum Rakover Y. Growth hormone receptor sequence changes do not play a role in determining height in children with idiopathic short stature. Horm Res. 2006;65:210-6 pubmed
    ..Such DNA changes are more prevalent than previously recognized, and they do not seem to play a contributory role in the etiology of short stature. ..
  51. Aranovich A, Parola A, Fishov I. The reactivation of DnaA(L366K) requires less acidic phospholipids supporting their role in the initiation of chromosome replication in Escherichia coli. FEBS Lett. 2007;581:4439-42 pubmed
    ..We now demonstrate that this mutant may be activated at significantly lower concentrations of acidic phospholipids than the wild-type protein, and this may explain the observed growth restoration in vivo. ..
  52. Amirav I, Cohen Cymberknoh M, Shoseyov D, Kerem E. Primary ciliary dyskinesia: prospects for new therapies, building on the experience in cystic fibrosis. Paediatr Respir Rev. 2009;10:58-62 pubmed publisher
    ..This review summarizes current and future prospects for these therapeutic options. ..
  53. Menachem T, Laitman Y, Kaufman B, Friedman E. The RNF146 and ECHDC1 genes as candidates for inherited breast and ovarian cancer in Jewish Ashkenazi women. Fam Cancer. 2009;8:399-402 pubmed publisher
    ..Mutations in the coding regions of the RNF146 and ECHDC1 genes do not contribute to the burden of inherited predisposition of breast cancer in Ashkenazi high risk women. ..
  54. Daniel Carmi V, Makovitzki Avraham E, Reuven E, Goldstein I, Zilkha N, Rotter V, et al. The human 1-8D gene (IFITM2) is a novel p53 independent pro-apoptotic gene. Int J Cancer. 2009;125:2810-9 pubmed publisher
    ..Our data suggest a role for the 1-8D gene as a novel pro-apoptotic gene that will provide new insights into the regulated cellular pathways to death. ..
  55. Lampl N, Budai Hadrian O, Davydov O, Joss T, Harrop S, Curmi P, et al. Arabidopsis AtSerpin1, crystal structure and in vivo interaction with its target protease RESPONSIVE TO DESICCATION-21 (RD21). J Biol Chem. 2010;285:13550-60 pubmed publisher
    ..The results establish that the major Arabidopsis plant serpin interacts with RD21. This is the first report of the structure and in vivo interaction of a plant serpin with its target protease. ..
  56. Padeh S, Livneh A, Pras E, Shinar Y, Lidar M, Feld O, et al. Familial Mediterranean Fever in the first two years of life: a unique phenotype of disease in evolution. J Pediatr. 2010;156:985-989 pubmed publisher
    ..In early life, FMF often begins with an atypical presentation, characterized by attacks of fever alone, and its diagnosis and initiation of treatment is therefore significantly delayed. ..
  57. Gueta R, Levitt J, Xia A, Katz O, Oghalai J, Rousso I. Structural and mechanical analysis of tectorial membrane Tecta mutants. Biophys J. 2011;100:2530-8 pubmed publisher
  58. Wainreb G, Wolf L, Ashkenazy H, Dehouck Y, Ben Tal N. Protein stability: a single recorded mutation aids in predicting the effects of other mutations in the same amino acid site. Bioinformatics. 2011;27:3286-92 pubmed publisher
    ..Pro-Maya is freely available via web server at; Supplementary data are available at Bioinformatics online. ..
  59. Belostotsky R, Frishberg Y, Entelis N. Human mitochondrial tRNA quality control in health and disease: a channelling mechanism?. RNA Biol. 2012;9:33-9 pubmed publisher
    ..Mutations perturbing this interaction lead to decreased tRNA stability. ..
  60. Tadmor Y, Bergstein M, Skaliter R, Shwartz H, Livneh Z. Beta subunit of DNA polymerase III holoenzyme is induced upon ultraviolet irradiation or nalidixic acid treatment of Escherichia coli. Mutat Res. 1994;308:53-64 pubmed
    ..The increased amount of the beta subunit is needed, most likely, for increased replication and repair activities in cells which have been exposed to UV radiation. ..
  61. Neuman Silberberg F. Drosophila female sterile mutation spoonbill interferes with multiple pathways in oogenesis. Genesis. 2007;45:369-81 pubmed
    ..Based on the previous data and the results presented here, it is anticipated that spoonbill may encode a multifunctional protein that perhaps coordinately regulated the activity of multiple signaling pathways during oogenesis. ..
  62. Mahajnah M, Inbar D, Steinmetz A, Heutink P, Breedveld G, Straussberg R. Benign hereditary chorea: clinical, neuroimaging, and genetic findings. J Child Neurol. 2007;22:1231-4 pubmed
    ..Brain single photon emission computed tomography findings did not seem to correlate with the clinical status of the children...
  63. Yassin M, Wasser S, Mahajna J. Substances from the medicinal mushroom Daedalea gibbosa inhibit kinase activity of native and T315I mutated Bcr-Abl. Int J Oncol. 2008;32:1197-204 pubmed
    ..Our data illustrated the potential of natural products in cancer therapeutics. ..
  64. Froy O. The circadian clock and metabolism. Clin Sci (Lond). 2011;120:65-72 pubmed publisher
    ..The present review will summarize recent findings concerning the relationship between metabolism and circadian rhythms. ..
  65. Tirosh I, Barkai N. Inferring regulatory mechanisms from patterns of evolutionary divergence. Mol Syst Biol. 2011;7:530 pubmed publisher
    ..We review examples of this concept using yeast as a model system, and highlight a hybrid-based approach that is highly instrumental in this analysis. ..
  66. Gazy I, Liefshitz B, Bronstein A, Parnas O, Atias N, Sharan R, et al. A genetic screen for high copy number suppressors of the synthetic lethality between elg1? and srs2? in yeast. G3 (Bethesda). 2013;3:917-26 pubmed publisher
    ..We report the identification of 36 such genes, which are enriched for functions related to DNA- and chromatin-binding, chromatin packaging and modification, and mRNA export from the nucleus. ..
  67. Raz Y, Miller Y. Interactions between A? and mutated Tau lead to polymorphism and induce aggregation of A?-mutated tau oligomeric complexes. PLoS ONE. 2013;8:e73303 pubmed publisher
    ..A? trimers alternating with mutated tau trimers constituted a structurally stable confined ?-structure, albeit one that was energetically less stable than all the other constructed models. ..
  68. Giladi M, van Dijk L, Refaeli B, Almagor L, Hiller R, Man P, et al. Dynamic distinctions in the Na+/Ca2+ exchanger adopting the inward- and outward-facing conformational states. J Biol Chem. 2017;292:12311-12323 pubmed publisher
  69. Yu Z, Livnat Levanon N, Kleifeld O, Mansour W, Nakasone M, Castaneda C, et al. Base-CP proteasome can serve as a platform for stepwise lid formation. Biosci Rep. 2015;35: pubmed publisher
  70. Corfas G, Dudai Y. Adaptation and fatigue of a mechanosensory neuron in wild-type Drosophila and in memory mutants. J Neurosci. 1990;10:491-9 pubmed
    ..The experimental system described here could also be useful for neurogenetic dissection of mechanosensory transduction. ..
  71. Minke B, Rubinstein C, Sahly I, Bar Nachum S, Timberg R, Selinger Z. Phorbol ester induces photoreceptor-specific degeneration in a Drosophila mutant. Proc Natl Acad Sci U S A. 1990;87:113-7 pubmed
    ..Furthermore, the results are consistent with identification of the rdgB gene product as a phosphoprotein phosphatase that is nonfunctional or absent in the mutant. ..
  72. Ostapenko D, Gileadi O. Rad25p, a DNA helicase subunit of yeast transcription factor TFIIH, is required for promoter escape in vivo. Gene. 2000;245:109-17 pubmed
    ..Our results suggest that in yeast cells, promoter opening is not sufficient for productive initiation and that Rad25p-mediated promoter escape may be a limiting step in the transcription of some promoters. ..
  73. Almog O, Gallagher D, Ladner J, Strausberg S, Alexander P, Bryan P, et al. Structural basis of thermostability. Analysis of stabilizing mutations in subtilisin BPN'. J Biol Chem. 2002;277:27553-8 pubmed
    ..The effects are attributed to the new disulfide cross-link and to improved hydrophobic packing, new hydrogen bonds, and other rearrangements in the N-terminal region. ..
  74. Kadouri D, Burdman S, Jurkevitch E, Okon Y. Identification and isolation of genes involved in poly(beta-hydroxybutyrate) biosynthesis in Azospirillum brasilense and characterization of a phbC mutant. Appl Environ Microbiol. 2002;68:2943-9 pubmed
    ..However, motility, cell aggregation, root adhesion, and exopolysaccharide (EPS) and capsular polysaccharide (CPS) production were higher in the phbC mutant strain than in the wild type...
  75. Carp H, Salomon O, Seidman D, Dardik R, Rosenberg N, Inbal A. Prevalence of genetic markers for thrombophilia in recurrent pregnancy loss. Hum Reprod. 2002;17:1633-7 pubmed
    ..Thrombophilia was not found to be associated with recurrent pregnancy loss. ..
  76. Balass M, Kalef E, Maya R, Wilder S, Oren M, Katchalski Katzir E. Characterization of two peptide epitopes on Mdm2 oncoprotein that affect p53 degradation. Peptides. 2002;23:1719-25 pubmed
    ..These results provide a molecular explanation for the observation that reactivity of Mdm2 with mAb2A10 is inhibited by phosphorylation. ..
  77. Ofek P, Ben Meir D, Kariv Inbal Z, Oren M, Lavi S. Cell cycle regulation and p53 activation by protein phosphatase 2C alpha. J Biol Chem. 2003;278:14299-305 pubmed
    ..The role of PP2C alpha in p53 activation is discussed. ..
  78. Kovalenko A, Chable Bessia C, Cantarella G, Israel A, Wallach D, Courtois G. The tumour suppressor CYLD negatively regulates NF-kappaB signalling by deubiquitination. Nature. 2003;424:801-5 pubmed
    ..Truncations of CYLD found in cylindromatosis result in reduced enzymatic activity, indicating a link between impaired deubiquitination of CYLD substrates and human pathophysiology. ..
  79. Rabinovich E, Livneh A, Langevitz P, Brezniak N, Shinar E, Pras M, et al. Severe disease in patients with rheumatoid arthritis carrying a mutation in the Mediterranean fever gene. Ann Rheum Dis. 2005;64:1009-14 pubmed
    ..MEFV, and particularly the E148Q mutation, is an independent modifier of the clinical manifestations of RA. This is the second Th1-type autoimmune disease in which MEFV mutations have been shown to aggravate the clinical status. ..
  80. Zilka A, Landau G, Hershkovitz O, Bloushtain N, Bar Ilan A, Benchetrit F, et al. Characterization of the heparin/heparan sulfate binding site of the natural cytotoxicity receptor NKp46. Biochemistry. 2005;44:14477-85 pubmed
    ..The characterization of heparan sulfate binding region in NKp46 offers further insight into the identity of the ligands for NKp46 and the interaction of NK and cancers. ..
  81. Reuveny A, Elhanany H, Volk T. Enhanced sensitivity of midline glial cells to apoptosis is achieved by HOW(L)-dependent repression of Diap1. Mech Dev. 2009;126:30-41 pubmed publisher
    ..These results suggest that HOW(L) enhances the sensitivity of MG cells to apoptotic signals by reducing the levels of diap1 in these cells in, demonstrating a novel mode of regulation of PCD at the mRNA level. ..
  82. Chalupowicz L, Barash I, Panijel M, Sessa G, Manulis Sasson S. Regulatory interactions between quorum-sensing, auxin, cytokinin, and the Hrp regulon in relation to gall formation and epiphytic fitness of Pantoea agglomerans pv. gypsophilae. Mol Plant Microbe Interact. 2009;22:849-56 pubmed publisher
    ..Results presented suggest the involvement of IAA and cytokinins in regulation of the QS system and hrp regulatory genes. ..
  83. Weiss B, Lebowitz O, Fidder H, Maza I, Levine A, Shaoul R, et al. Response to medical treatment in patients with Crohn's disease: the role of NOD2/CRAD15, disease phenotype, and age of diagnosis. Dig Dis Sci. 2010;55:1674-80 pubmed publisher
    ..Response to treatment with systemic steroids, AZA/6-MP and infliximab are not related to NOD2/CARD15 mutations, age of diagnosis and disease behavior. Patients with colonic disease have higher rates of steroid dependency. ..
  84. Bahar O, De La Fuente L, Burdman S. Assessing adhesion, biofilm formation and motility of Acidovorax citrulli using microfluidic flow chambers. FEMS Microbiol Lett. 2010;312:33-9 pubmed publisher
    ..These results imply that TFP may play an important role in colonization and spread in the xylem vessels under sap flow conditions, while polar flagella could be more important for spread during periods of time when xylem flow is minimal...
  85. Rosner G, Rozen P, Bercovich D, Shochat C, Solar I, Strul H, et al. A protocol for genetic evaluation of patients with multiple colorectal adenomas and without evidence of APC gene mutation. Isr Med Assoc J. 2010;12:549-53 pubmed
    ..Completing APC exon 16 sequencing and copy number variations analysis should probably be the last evaluations. ..
  86. Maydan G, Noyman I, Har Zahav A, Neriah Z, Pasmanik Chor M, Yeheskel A, et al. Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN. J Med Genet. 2011;48:383-9 pubmed publisher
    ..The presence of developmental delay, hypotonia, and epilepsy combined with multiple congenital anomalies, especially anorectal anomalies, should lead a clinician to suspect a GPI deficiency related disorder. ..
  87. Dinour D, Gray N, Ganon L, Knox A, Shalev H, Sela B, et al. Two novel homozygous SLC2A9 mutations cause renal hypouricemia type 2. Nephrol Dial Transplant. 2012;27:1035-41 pubmed publisher
    ..We have recently shown that loss-of-function homozygous mutations of another UA transporter, GLUT9, cause a severe type of hereditary renal hypouricemia with similar complications (RHUC2)...
  88. Leibman D, Wolf D, Saharan V, Zelcer A, Arazi T, Yoel S, et al. A high level of transgenic viral small RNA is associated with broad potyvirus resistance in cucurbits. Mol Plant Microbe Interact. 2011;24:1220-38 pubmed publisher
    ..This study shows that resistance based on gene-silencing can be effective against related viruses and is probably correlated with t-siRNA accumulation and increased expression of RDR1...
  89. Amit M, Donyo M, Hollander D, Goren A, Kim E, Gelfman S, et al. Differential GC content between exons and introns establishes distinct strategies of splice-site recognition. Cell Rep. 2012;1:543-56 pubmed publisher
  90. Herzog G, Joerger A, Shmueli M, Fersht A, Gazit E, Segal D. Evaluating Drosophila p53 as a model system for studying cancer mutations. J Biol Chem. 2012;287:44330-7 pubmed publisher
    ..On the basis of these data, we discuss the advantages and limitations of using Dmp53 as a model system for studying p53 function and testing p53 rescue drugs. ..
  91. Khayat M, Tilghman J, Chervinsky I, Zalman L, Chakravarti A, Shalev S. A PIGN mutation responsible for multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) in an Israeli-Arab family. Am J Med Genet A. 2016;170A:176-82 pubmed publisher
    ..Our results, strongly support previously published data, that partial depletion of GPI-anchored proteins is sufficient to cause severe phenotypic expression. ..
  92. Prokocimer M, Molchadsky A, Rotter V. Dysfunctional diversity of p53 proteins in adult acute myeloid leukemia: projections on diagnostic workup and therapy. Blood. 2017;130:699-712 pubmed publisher
    ..Additionally, a suggested novel algorithm for p53-based diagnostic workup in AML is presented, aiming at facilitating the p53-based therapeutic choices. ..