Experts and Doctors on mutation in France

Summary

Locale: France
Topic: mutation

Top Publications

  1. Ronsseray S, Lehmann M, Anxolabehere D. The maternally inherited regulation of P elements in Drosophila melanogaster can be elicited by two P copies at cytological site 1A on the X chromosome. Genetics. 1991;129:501-12 pubmed
    ..By contrast, the partial regulation of delta 2-3(99B) somatic activity is chromosomally inherited. These results suggest that the regulatory P elements of the Lk-P(1A) line are inserted near a germline-specific enhancer. ..
  2. Guedon C, Le Cam Duchez V, Lalaude O, Menard J, Lerebours E, Borg J. Prothrombotic inherited abnormalities other than factor V Leiden mutation do not play a role in venous thrombosis in inflammatory bowel disease. Am J Gastroenterol. 2001;96:1448-54 pubmed
    ..Our study confirms that factor V Leiden mutation increases the risk for thrombotic events but is not more frequent in patients with inflammatory bowel disease. Our results do not support the role of other thrombotic risk factors. ..
  3. Breton A, Schaeffer J, Aigle M. The yeast Rvs161 and Rvs167 proteins are involved in secretory vesicles targeting the plasma membrane and in cell integrity. Yeast. 2001;18:1053-68 pubmed
    ..These data support the idea that the Rvs proteins are involved in the late targeting of vesicles whose cargoes are required for cell wall construction. ..
  4. Dubacq C, Guerois R, Courbeyrette R, Kitagawa K, Mann C. Sgt1p contributes to cyclic AMP pathway activity and physically interacts with the adenylyl cyclase Cyr1p/Cdc35p in budding yeast. Eukaryot Cell. 2002;1:568-82 pubmed
    ..Thus, Sgt1p is a novel activator of adenylyl cyclase in S. cerevisiae and may function in the assembly or the conformational activation of specific multiprotein complexes. ..
  5. Lucet V, Lupoglazoff J, Fontaine B. [Andersen syndrome, ventricular arrhythmias and channelopathy (a case report)]. Arch Pediatr. 2002;9:1256-9 pubmed
    ..Recent advances in molecular genetic research have provided new insights into severe ventricular arrhythmias related to channelopathies...
  6. Costa C, Costa J, Slama A, Boutron A, Vequaud C, Legrand A, et al. Mutational spectrum and DNA-based prenatal diagnosis in carnitine-acylcarnitine translocase deficiency. Mol Genet Metab. 2003;78:68-73 pubmed
    ..Two fetuses were affected and one pregnancy was terminated by family decision. Two other fetuses had normal genotype and five others were heterozygotes. All the offspring of these seven pregnancies are alive and apparently healthy. ..
  7. Munier Lehmann H, Chenal Francisque V, Ionescu M, Chrisova P, Foulon J, Carniel E, et al. Relationship between bacterial virulence and nucleotide metabolism: a mutation in the adenylate kinase gene renders Yersinia pestis avirulent. Biochem J. 2003;373:515-22 pubmed
    ..pestis killed 100% of the mice upon subcutaneous infection, whereas bacterial loads as high as 1.5 x 10(4) CFU of the adk mutant were unable to kill any animals. ..
  8. Duret S, Berho N, Danet J, Garnier M, Renaudin J. Spiralin is not essential for helicity, motility, or pathogenicity but is required for efficient transmission of Spiroplasma citri by its leafhopper vector Circulifer haematoceps. Appl Environ Microbiol. 2003;69:6225-34 pubmed
    ..4 x 10(7) CFU/g of midribs) and produced the typical symptoms of the disease. These results indicate that spiralin is not essential for pathogenicity but is required for efficient transmission of S. citri by its insect vector...
  9. Vanier M, Millat G. Structure and function of the NPC2 protein. Biochim Biophys Acta. 2004;1685:14-21 pubmed
    ..In this model, the activity of NPC1 would depend on that of NPC2. The precise function of the NPC2 protein has, however, not been fully elucidated. ..

More Information

Publications1049 found, 100 shown here

  1. Saulnier A, Pelletier I, Labadie K, Colbere Garapin F. Complete cure of persistent virus infections by antiviral siRNAs. Mol Ther. 2006;13:142-50 pubmed
    ..The antiviral effect of specific siRNAs, consistent with a mechanism of RNA interference, correlated with a decrease in the amount of viral RNA, until its complete disappearance, resulting in cultures cured of virions and viral RNA. ..
  2. Pommier S, Gavioli M, Cascales E, Lloubes R. Tol-dependent macromolecule import through the Escherichia coli cell envelope requires the presence of an exposed TolA binding motif. J Bacteriol. 2005;187:7526-34 pubmed
    ..Furthermore, in vivo and in vitro coprecipitation analyses demonstrated that colicin A and g3p N-terminal domains compete for binding to TolA. ..
  3. Simon Chazottes D, Tutois S, Kuehn M, Evans M, Bourgade F, Cook S, et al. Mutations in the gene encoding the low-density lipoprotein receptor LRP4 cause abnormal limb development in the mouse. Genomics. 2006;87:673-7 pubmed
  4. Fischer J, Lefèvre C, Morava E, Mussini J, Laforet P, Negre Salvayre A, et al. The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy. Nat Genet. 2007;39:28-30 pubmed
    ..NLSDM is distinct from Chanarin-Dorfman syndrome, which is characterized by neutral lipid storage disease with ichthyosis, mild myopathy and hepatomegaly due to mutations in ABHD5 (also known as CGI-58). ..
  5. Hourioux C, Ait Goughoulte M, Patient R, Fouquenet D, Arcanger Doudet F, Brand D, et al. Core protein domains involved in hepatitis C virus-like particle assembly and budding at the endoplasmic reticulum membrane. Cell Microbiol. 2007;9:1014-27 pubmed
  6. Mammeri H, Poirel L, Nordmann P. Extension of the hydrolysis spectrum of AmpC beta-lactamase of Escherichia coli due to amino acid insertion in the H-10 helix. J Antimicrob Chemother. 2007;60:490-4 pubmed
    ..In addition, the IC50 values of clavulanic acid and tazobactam for AmpC BER were increased. This work sheds new light on structure-function relationships of expanded-spectrum AmpC beta-lactamases. ..
  7. Haj Khelil A, Deguillien M, Morinière M, Ben Chibani J, Baklouti F. Cryptic splicing sites are differentially utilized in vivo. FEBS J. 2008;275:1150-62 pubmed publisher
    ..Collectively, these data suggest that intrinsic, sequence specific factors and cell genetic background factors both contribute to promote a subtle differential use of cryptic splice sites in vivo. ..
  8. Marbouty M, Mazouni K, Saguez C, Cassier Chauvat C, Chauvat F. Characterization of the Synechocystis strain PCC 6803 penicillin-binding proteins and cytokinetic proteins FtsQ and FtsW and their network of interactions with ZipN. J Bacteriol. 2009;191:5123-33 pubmed publisher
    ..Collectively, these findings indicate that ZipN, in interacting with FtsZ and both FtsI and FtQ, plays a similar role to the Escherichia coli FtsA protein, which is missing in cyanobacteria and chloroplasts. ..
  9. El Khoury R, Sainsard Chanet A. Suppression of mitochondrial DNA instability of autosomal dominant forms of progressive external ophthalmoplegia-associated ANT1 mutations in Podospora anserina. Genetics. 2009;183:861-71 pubmed publisher
    ..In contrast, the mtDNA instability caused by the S296M mutation was not suppressed by these alleles. ..
  10. Romero N. Centronuclear myopathies: a widening concept. Neuromuscul Disord. 2010;20:223-8 pubmed publisher
    ..one or more nuclei anywhere inside the sarcoplasm) for CNM categorisation, and demonstrates how additional structural alterations within muscle fibres are a useful criterion for suggesting or discarding DNM2-, BIN1- or MTM1-related CNM. ..
  11. Nabholz B, Uwimana N, Lartillot N. Reconstructing the phylogenetic history of long-term effective population size and life-history traits using patterns of amino acid replacement in mitochondrial genomes of mammals and birds. Genome Biol Evol. 2013;5:1273-90 pubmed publisher
    ..Altogether, our work represents a further step toward a more comprehensive phylogenetic reconstruction of the evolution of life-history and of the population-genetics environment. ..
  12. Martin B, Chesnel F, Delcros J, Jouan F, Couturier A, Dugay F, et al. Identification of pVHL as a novel substrate for Aurora-A in clear cell renal cell carcinoma (ccRCC). PLoS ONE. 2013;8:e67071 pubmed publisher
    ..These results suggest that Aurora-A and VHL interact in the ccRCC. We demonstrated that the two proteins interact in vivo and identified the Ser72 on the sequence of VHL as the unique site phosphorylated by Aurora-A. ..
  13. Lonjon F, Turner M, Henry C, Rengel D, Lohou D, van de Kerkhove Q, et al. Comparative Secretome Analysis of Ralstonia solanacearum Type 3 Secretion-Associated Mutants Reveals a Fine Control of Effector Delivery, Essential for Bacterial Pathogenicity. Mol Cell Proteomics. 2016;15:598-613 pubmed publisher
    ..HpaB was required for bacterial pathogenicity on multiple hosts whereas HpaG was found to be specifically required for full R. solanacearum pathogenicity on the legume plant Medicago truncatula. ..
  14. Corratgé Faillie C, Ronzier E, Sanchez F, Prado K, Kim J, Lanciano S, et al. The Arabidopsis guard cell outward potassium channel GORK is regulated by CPK33. FEBS Lett. 2017;591:1982-1992 pubmed publisher
    ..Further work on CPK33 indicates that GORK activity is enhanced by CPK33 and unaffected by a nonfunctional CPK33 (CPK33-K102M). Furthermore, Ca2+ -induced stomatal closure is impaired in two cpk33 mutant plants. ..
  15. Lecourtois M, Schweisguth F. The neurogenic suppressor of hairless DNA-binding protein mediates the transcriptional activation of the enhancer of split complex genes triggered by Notch signaling. Genes Dev. 1995;9:2598-608 pubmed
    ..However, we also present evidence indicating that N signals in an Su(H)-independent manner during mesectoderm formation. ..
  16. de Roux N, Misrahi M, Brauner R, Houang M, Carel J, Granier M, et al. Four families with loss of function mutations of the thyrotropin receptor. J Clin Endocrinol Metab. 1996;81:4229-35 pubmed
    ..The Phe525 Leu substitution also markedly impaired adenylate cyclase activation, underlining the importance of the second intracellular loop in receptor signaling. ..
  17. Galinier A, Haiech J, Kilhoffer M, Jaquinod M, Stülke J, Deutscher J, et al. The Bacillus subtilis crh gene encodes a HPr-like protein involved in carbon catabolite repression. Proc Natl Acad Sci U S A. 1997;94:8439-44 pubmed
    ..These results suggest that CCR of certain catabolic operons requires, in addition to CcpA, ATP-dependent phosphorylation of Crh, and HPr at Ser-46. ..
  18. Vincent M, Biancalana V, Ginisty D, Mandel J, Calvas P. Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia. Eur J Hum Genet. 2001;9:355-63 pubmed
    ..Finally this study is useful for functional studies of the protein and to define a diagnostic strategy for mutation screening of the ED1 gene. ..
  19. Ranquet C, Geiselmann J, Toussaint A. The tRNA function of SsrA contributes to controlling repression of bacteriophage Mu prophage. Proc Natl Acad Sci U S A. 2001;98:10220-5 pubmed
  20. Monnet C, Mora D, Corrieu G. Glutamine synthesis is essential for growth of Streptococcus thermophilus in milk and is linked to urea catabolism. Appl Environ Microbiol. 2005;71:3376-8 pubmed
    ..It was concluded that one of the functions of urease is to supply ammonia for the synthesis of glutamine...
  21. Dellagi A, Rigault M, Segond D, Roux C, Kraepiel Y, Cellier F, et al. Siderophore-mediated upregulation of Arabidopsis ferritin expression in response to Erwinia chrysanthemi infection. Plant J. 2005;43:262-72 pubmed
    ..chrysanthemi is a basal defense mechanism which is mainly activated by bacterial siderophores. The potential role of siderophores in this process is discussed...
  22. Sy A, Timmers A, Knief C, Vorholt J. Methylotrophic metabolism is advantageous for Methylobacterium extorquens during colonization of Medicago truncatula under competitive conditions. Appl Environ Microbiol. 2005;71:7245-52 pubmed
    ..However, bacterial cells were also found in the intercellular spaces inside the leaves, especially in the epidermal cell layer and immediately underneath this layer...
  23. Audrezet M, Dabricot A, Le Maréchal C, Ferec C. Validation of high-resolution DNA melting analysis for mutation scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. J Mol Diagn. 2008;10:424-34 pubmed publisher
  24. Bach L, Michaelson L, Haslam R, Bellec Y, Gissot L, Marion J, et al. The very-long-chain hydroxy fatty acyl-CoA dehydratase PASTICCINO2 is essential and limiting for plant development. Proc Natl Acad Sci U S A. 2008;105:14727-31 pubmed publisher
  25. Sellem C, Bovier E, Lorin S, Sainsard Chanet A. Mutations in two zinc-cluster proteins activate alternative respiratory and gluconeogenic pathways and restore senescence in long-lived respiratory mutants of Podospora anserina. Genetics. 2009;182:69-78 pubmed publisher
    ..These data are discussed with respect to aging, the regulation of the alternative oxidase, and carbon metabolism. ..
  26. Aymeric J, Givaudan A, Duvic B. Imd pathway is involved in the interaction of Drosophila melanogaster with the entomopathogenic bacteria, Xenorhabdus nematophila and Photorhabdus luminescens. Mol Immunol. 2010;47:2342-8 pubmed publisher
    ..coli-induced protection. However, phoP recovered a level of pathogenicity comparable to P. luminescens wild-type TT01 when injected to Drosophila flies affected on the imd pathway. ..
  27. Stheneur C, Faivre L, Collod Beroud G, Gautier E, Binquet C, Bonithon Kopp C, et al. Prognosis factors in probands with an FBN1 mutation diagnosed before the age of 1 year. Pediatr Res. 2011;69:265-70 pubmed publisher
    ..In this population, factors significantly associated with shorter survival are presence of valvular insufficiencies or diaphragmatic hernia in addition to a mutation in exons 25 or 26. ..
  28. Choukrallah M, Kobi D, Martianov I, Pijnappel W, Mischerikow N, Ye T, et al. Interconversion between active and inactive TATA-binding protein transcription complexes in the mouse genome. Nucleic Acids Res. 2012;40:1446-59 pubmed publisher
    ..We propose a novel regulatory mechanism involving formation of a partial preinitiation complex comprising B-TFIID that primes the promoter for productive preinitiation complex formation in mammalian cells. ..
  29. Filipchuk A, Durand J. Postnatal dendritic development in lumbar motoneurons in mutant superoxide dismutase 1 mouse model of amyotrophic lateral sclerosis. Neuroscience. 2012;209:144-54 pubmed publisher
    ..Our results suggest that the SOD1 MNs switch from excessive elongation to overbranching in a few days at early postnatal life, which might be a compensatory reaction to the possible variation of synaptic input. ..
  30. Bouvier Navé P, Berna A, Noiriel A, Compagnon V, Carlsson A, Banas A, et al. Involvement of the phospholipid sterol acyltransferase1 in plant sterol homeostasis and leaf senescence. Plant Physiol. 2010;152:107-19 pubmed publisher
    ..The results presented here suggest that PSAT1 plays a role in lipid catabolism as part of the intracellular processes at play in the maintenance of leaf viability during developmental aging. ..
  31. Marteyn A, Maury Y, Gauthier M, Lecuyer C, Vernet R, Denis J, et al. Mutant human embryonic stem cells reveal neurite and synapse formation defects in type 1 myotonic dystrophy. Cell Stem Cell. 2011;8:434-44 pubmed publisher
    ..These neuropathological mechanisms may be clinically significant for the functional changes in neuromuscular connections associated with DM1...
  32. Haïli N, Arnal N, Quadrado M, Amiar S, Tcherkez G, Dahan J, et al. The pentatricopeptide repeat MTSF1 protein stabilizes the nad4 mRNA in Arabidopsis mitochondria. Nucleic Acids Res. 2013;41:6650-63 pubmed publisher
    ..Our study also reveals that short RNA molecules corresponding to pentatricopeptide repeat-binding sites accumulate also in plant mitochondria. ..
  33. Samri A, Haas G, Duntze J, Bouley J, Calvez V, Katlama C, et al. Immunogenicity of mutations induced by nucleoside reverse transcriptase inhibitors for human immunodeficiency virus type 1-specific cytotoxic T cells. J Virol. 2000;74:9306-12 pubmed
    ..Therefore, RT mutations induced by NRTI can increase the immunogenicity of RT for CTL and might allow a better immune control of resistant viruses in vivo, suggesting that specific immune therapy might help prevent these mutations. ..
  34. Bernard J, Harb C, Mortier E, Quéméner A, Meloen R, Vermot Desroches C, et al. Identification of an interleukin-15alpha receptor-binding site on human interleukin-15. J Biol Chem. 2004;279:24313-22 pubmed
    ..Finally, some of the IL-15 mutants generated in this study displayed agonist or antagonist properties and may be useful as therapeutic agents. ..
  35. Franco M, Furstoss O, Simon V, Benistant C, Hong W, Roche S. The adaptor protein Tom1L1 is a negative regulator of Src mitogenic signaling induced by growth factors. Mol Cell Biol. 2006;26:1932-47 pubmed
    ..We concluded that Tom1L1 defines a novel mechanism for regulation of SFK mitogenic signaling induced by growth factors. ..
  36. Compe E, Malerba M, Soler L, Marescaux J, Borrelli E, Egly J. Neurological defects in trichothiodystrophy reveal a coactivator function of TFIIH. Nat Neurosci. 2007;10:1414-22 pubmed
    ..The discovery of an unexpected stabilizing function for TFIIH deepens our understanding of the pathogenesis and neurological manifestations observed in TTD individuals. ..
  37. Hickman J, Hardwick J, Kaczmarek L, Jonas E. Bcl-xL inhibitor ABT-737 reveals a dual role for Bcl-xL in synaptic transmission. J Neurophysiol. 2008;99:1515-22 pubmed
    ..These observations support the possibility that endogenous proteolysis or a functionally equivalent modification of BCL-xL is responsible for the deleterious effects of hypoxia on synaptic activity. ..
  38. Servant G, Pennetier C, Lesage P. Remodeling yeast gene transcription by activating the Ty1 long terminal repeat retrotransposon under severe adenine deficiency. Mol Cell Biol. 2008;28:5543-54 pubmed publisher
    ..We propose that Ty1-driven transcription of coding and noncoding sequences could regulate yeast gene expression in response to stress. ..
  39. Clauss F, Chassaing N, Smahi A, Vincent M, Calvas P, Molla M, et al. X-linked and autosomal recessive Hypohidrotic Ectodermal Dysplasia: genotypic-dental phenotypic findings. Clin Genet. 2010;78:257-66 pubmed publisher
  40. Vahedi K, Alamowitch S. Clinical spectrum of type IV collagen (COL4A1) mutations: a novel genetic multisystem disease. Curr Opin Neurol. 2011;24:63-8 pubmed publisher
    ..COL4A1 disorder is probably largely underestimated because of its multisystem and variable phenotype. In addition the whole spectrum of the phenotype is not yet known and there are many asymptomatic patients. ..
  41. Böhm J, Biancalana V, DeChene E, Bitoun M, Pierson C, Schaefer E, et al. Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy. Hum Mutat. 2012;33:949-59 pubmed publisher
    ..Defects in membrane trafficking due to DNM2 mutations potentially represent a common pathological mechanism in CNM and CMT. ..
  42. Syrbe S, Harms F, Parrini E, Montomoli M, Mütze U, Helbig K, et al. Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy. Brain. 2017;140:2322-2336 pubmed publisher
  43. Rosay P, Colas J, Maroteaux L. Dual organisation of the Drosophila neuropeptide receptor NKD gene promoter. Mech Dev. 1995;51:329-39 pubmed
    ..Furthermore, heterodimers of atonal and daughterless interact with this E box in gel shift assay. ..
  44. Herrick J, Kern R, Guha S, Landoulsi A, Fayet O, Malki A, et al. Parental strand recognition of the DNA replication origin by the outer membrane in Escherichia coli. EMBO J. 1994;13:4695-703 pubmed
    ..The purified LacZ-HobH fusion protein specifically binds oriC DNA at the same preferential sites as the membrane. A mutant of the hobH gene reveals partial asynchronous initiation of DNA replication. ..
  45. Gottar M, Gobert V, Michel T, Belvin M, Duyk G, Hoffmann J, et al. The Drosophila immune response against Gram-negative bacteria is mediated by a peptidoglycan recognition protein. Nature. 2002;416:640-4 pubmed
    ..The data on PGRP-SA with respect to the response to Gram-positive infections, together with the present report, indicate that the PGRP family has a principal role in sensing microbial infections in Drosophila. ..
  46. Poulain M, Lepage T. Mezzo, a paired-like homeobox protein is an immediate target of Nodal signalling and regulates endoderm specification in zebrafish. Development. 2002;129:4901-14 pubmed
    ..They place mezzo as a new transcription factor with unique properties acting in parallel with bonnie and clyde, faust and casanova in the Nodal signalling pathway that controls specification of mesoderm and endoderm in zebrafish. ..
  47. Moury B, Morel C, Johansen E, Guilbaud L, Souche S, Ayme V, et al. Mutations in potato virus Y genome-linked protein determine virulence toward recessive resistances in Capsicum annuum and Lycopersicon hirsutum. Mol Plant Microbe Interact. 2004;17:322-9 pubmed
    ..This suggests that the role of the VPg-encoding region is determined by the protein and not by the viral RNA apart from its protein-encoding capacity. ..
  48. Mesnier D, Baneres J. Cooperative conformational changes in a G-protein-coupled receptor dimer, the leukotriene B(4) receptor BLT1. J Biol Chem. 2004;279:49664-70 pubmed
    ..These data provide a direct demonstration for agonist-induced cooperative conformational changes in a GPCR dimer. ..
  49. Chabrillat M, Wilhelm C, Wasmeier C, Sviderskaya E, Louvard D, Coudrier E. Rab8 regulates the actin-based movement of melanosomes. Mol Biol Cell. 2005;16:1640-50 pubmed
    ..Together, our observations suggest that Rab8 is involved in regulating the actin-dependent movement of melanosomes...
  50. Ondo Mbele E, Vivès C, Kone A, Serre L. Intriguing conformation changes associated with the trans/cis isomerization of a prolyl residue in the active site of the DsbA C33A mutant. J Mol Biol. 2005;347:555-63 pubmed
    ..The structural analysis of C33A may actually explain the peculiar behavior of this mutant in regards with its interaction with DsbB and thus provides new insights for understanding the catalytic cycle of DsbA. ..
  51. Arnal N, Alban C, Quadrado M, Grandjean O, Mireau H. The Arabidopsis Bio2 protein requires mitochondrial targeting for activity. Plant Mol Biol. 2006;62:471-9 pubmed
    ..The reaction catalyzed by Bio2 may be subject to biochemical constraints, and the apparent close connection with the mitochondrial Fe-S machinery may account for the reaction being retained within the organelle. ..
  52. Boscari A, Van de Sype G, Le Rudulier D, Mandon K. Overexpression of BetS, a Sinorhizobium meliloti high-affinity betaine transporter, in bacteroids from Medicago sativa nodules sustains nitrogen fixation during early salt stress adaptation. Mol Plant Microbe Interact. 2006;19:896-903 pubmed
    ..Taken altogether, these results are consistent with the major role of BetS as an emergency system involved in the rapid uptake of betaines in isolated and in planta osmotically stressed bacteroids of S. meliloti. ..
  53. Bjedov I, Dasgupta C, Slade D, Le Blastier S, Selva M, Matic I. Involvement of Escherichia coli DNA polymerase IV in tolerance of cytotoxic alkylating DNA lesions in vivo. Genetics. 2007;176:1431-40 pubmed
    ..This activity is of major biological relevance because alkylating agents are continuously produced endogenously in all living cells and are also present in the environment. ..
  54. Sautel C, Cannella D, Bastien O, Kieffer S, Aldebert D, Garin J, et al. SET8-mediated methylations of histone H4 lysine 20 mark silent heterochromatic domains in apicomplexan genomes. Mol Cell Biol. 2007;27:5711-24 pubmed
    ..Thus, these lower eukaryotes have developed a diverse panel of biological stages through their high capacity to differentiate, and epigenetics only begins to emerge as a strong determinant of their biology. ..
  55. Lam D, Levraud J, Luciani M, Golstein P. Autophagic or necrotic cell death in the absence of caspase and bcl-2 family members. Biochem Biophys Res Commun. 2007;363:536-41 pubmed
    ..Altogether, in this model system both autophagic and necrotic cell death could occur, and could be investigated, with no interference from the two main molecular families involved in apoptosis, the caspase and the bcl-2 families. ..
  56. Bernardes de Jesus B, Bjørås M, Coin F, Egly J. Dissection of the molecular defects caused by pathogenic mutations in the DNA repair factor XPC. Mol Cell Biol. 2008;28:7225-35 pubmed publisher
    ..g., the P334H mutation prevents the stimulation of Ogg1 glycosylase because it thwarts the interaction between XPC and Ogg1), thereby leading to a deeper understanding of the molecular repair defect of the XP-C patients. ..
  57. Schmucker S, Puccio H. Understanding the molecular mechanisms of Friedreich's ataxia to develop therapeutic approaches. Hum Mol Genet. 2010;19:R103-10 pubmed publisher
    ..Ther., 116, 236-248; Pandolfo, M. (2008) Drug insight: antioxidant therapy in inherited ataxias. Nat. Clin. Pract. Neurol., 4, 86-96; Puccio, H. (2009) Multicellular models of Friedreich ataxia. J. Neurol., 256 (Suppl. 1), 18-24]...
  58. Martin G, Gandon S. Lethal mutagenesis and evolutionary epidemiology. Philos Trans R Soc Lond B Biol Sci. 2010;365:1953-63 pubmed publisher
    ..In the light of this model, we discuss the feasibility of lethal mutagenesis as an efficient therapeutic strategy. ..
  59. Nibourel O, Kosmider O, Cheok M, Boissel N, Renneville A, Philippe N, et al. Incidence and prognostic value of TET2 alterations in de novo acute myeloid leukemia achieving complete remission. Blood. 2010;116:1132-5 pubmed publisher
    ..TET2 gene status was not significantly correlated with disease-free survival and overall survival, both in the entire cohort and in patients with normal karyotype. ..
  60. Aynaud M, Suspène R, Vidalain P, Mussil B, Guetard D, Tangy F, et al. Human Tribbles 3 protects nuclear DNA from cytidine deamination by APOBEC3A. J Biol Chem. 2012;287:39182-92 pubmed publisher
    ..TRIB3 has been linked to cancer and via its own interactors and links the A3A DNA mutators to the Rb-BRCA1-ATM network. TRIB3 emerges as an important guardian of genome integrity. ..
  61. Mhedbi Hajri N, Hajri A, Boureau T, Darrasse A, Durand K, Brin C, et al. Evolutionary history of the plant pathogenic bacterium Xanthomonas axonopodis. PLoS ONE. 2013;8:e58474 pubmed publisher
    ..These transfers may have favored the emergence of novel pathotypes. Finally, we argue that the largest ecological entity within X. axonopodis is the pathovar. ..
  62. Mohamed S, Bourliere M, Benali S, Oules V, Castellani P, Khiri H, et al. Clinical relevance of the HCV protease inhibitor-resistant mutant viral load assessed by ultra-deep pyrosequencing in treatment failure. J Clin Virol. 2016;78:36-43 pubmed publisher
    ..The relative mutant viral load should be considered prior to any PI based re-treatment. This concept of the baseline mutation viral load must be validated using current therapy and must be validated on a larger cohort. ..
  63. Heitzler P, Haenlin M, Ramain P, Calleja M, Simpson P. A genetic analysis of pannier, a gene necessary for viability of dorsal tissues and bristle positioning in Drosophila. Genetics. 1996;143:1271-86 pubmed
    ..A large number of alleles have been studied and reveal that pannier may have opposing effects on the expression of achaete and scute leading to a loss or a gain of bristles. ..
  64. Ségault V, Will C, Polycarpou Schwarz M, Mattaj I, Branlant C, Luhrmann R. Conserved loop I of U5 small nuclear RNA is dispensable for both catalytic steps of pre-mRNA splicing in HeLa nuclear extracts. Mol Cell Biol. 1999;19:2782-90 pubmed
    ..Consistent with this idea, immunoprecipitation studies indicated that several functionally important U5 proteins associate stably with U5 snRNPs containing a GAGA loop 1 substitution. ..
  65. Gaudin V, Libault M, Pouteau S, Juul T, Zhao G, Lefebvre D, et al. Mutations in LIKE HETEROCHROMATIN PROTEIN 1 affect flowering time and plant architecture in Arabidopsis. Development. 2001;128:4847-58 pubmed
  66. Daury L, Busson M, Tourkine N, Casas F, Cassar Malek I, Wrutniak Cabello C, et al. Opposing functions of ATF2 and Fos-like transcription factors in c-Jun-mediated myogenin expression and terminal differentiation of avian myoblasts. Oncogene. 2001;20:7998-8008 pubmed
    ..These data suggest that through this dual myogenic influence due to cooperations with different partners, c-Jun is involved in the control of duration of myoblast proliferation and thereafter of fusion efficiency. ..
  67. Mollinari C, Kleman J, Jiang W, Schoehn G, Hunter T, Margolis R. PRC1 is a microtubule binding and bundling protein essential to maintain the mitotic spindle midzone. J Cell Biol. 2002;157:1175-86 pubmed
    ..We conclude that PRC1 is a microtubule-associated protein required to maintain the spindle midzone, and that distinct functions are associated with modular elements of the primary sequence. ..
  68. Garcia D, Saingery V, Chambrier P, Mayer U, Jurgens G, Berger F. Arabidopsis haiku mutants reveal new controls of seed size by endosperm. Plant Physiol. 2003;131:1661-70 pubmed
    ..We present further evidence for a control of integument development mediated by endosperm-derived signals. ..
  69. Bertolino P, Radovanovic I, Casse H, Aguzzi A, Wang Z, Zhang C. Genetic ablation of the tumor suppressor menin causes lethality at mid-gestation with defects in multiple organs. Mech Dev. 2003;120:549-60 pubmed
    ..The present study demonstrates that menin plays an important role in the embryonic development of multiple organs in addition to its proposed role in tumor suppression. ..
  70. Bouhouche K, Zickler D, Debuchy R, Arnaise S. Altering a gene involved in nuclear distribution increases the repeat-induced point mutation process in the fungus Podospora anserina. Genetics. 2004;167:151-9 pubmed
    ..Our results suggest that the developmental slowdown of the ami1 mutant during the period of RIP and PR increases time exposure to the duplication detection system and thus increases the frequency of RIP and PR...
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