Experts and Doctors on mutation in Strasbourg, Alsace Champagne Ardenne Lorraine, France


Locale: Strasbourg, Alsace Champagne Ardenne Lorraine, France
Topic: mutation

Top Publications

  1. Rossolillo P, Winter F, Simon Loriere E, Gallois Montbrun S, Negroni M. Retrovolution: HIV-driven evolution of cellular genes and improvement of anticancer drug activation. PLoS Genet. 2012;8:e1002904 pubmed publisher
    ..Besides the potential interest of the G12 dCK variant for therapeutic purposes, the methodology developed is of interest for a large panel of applications in biotechnology and basic research. ..
  2. Prasad M, Geoffroy V, Vicaire S, Jost B, Dumas M, Le Gras S, et al. A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement. J Med Genet. 2016;53:98-110 pubmed publisher
    ..Furthermore, our panel will contribute to better understanding the contribution of these genes to orodental disease. NCT01746121 and NCT02397824. ..
  3. Gualberto J, Newton K. Plant Mitochondrial Genomes: Dynamics and Mechanisms of Mutation. Annu Rev Plant Biol. 2017;68:225-252 pubmed publisher
    ..We review the present state of knowledge of the genes and pathways underlying mitochondrial genome stability. ..
  4. Chatton B, Winsor B, Boulanger Y, Fasiolo F. Cloning and characterization of the yeast methionyl-tRNA synthetase mutation mes1. J Biol Chem. 1987;262:15094-7 pubmed
    ..The mutation is in the COOH-terminal domain of the mononucleotide binding fold of the yeast enzyme and suggests participation of this region in the binding of the amino acid residue. ..
  5. Gachotte D, Husselstein T, Bard M, Lacroute F, Benveniste P. Isolation and characterization of an Arabidopsis thaliana cDNA encoding a delta 7-sterol-C-5-desaturase by functional complementation of a defective yeast mutant. Plant J. 1996;9:391-8 pubmed
    ..These histidine-rich motifs are also characteristic of many membrane-bound fatty acid desaturases from higher plants. These data strongly suggest that the A. thaliana cDNA encodes a delta 7-sterol-C-5-desaturase. ..
  6. Echaniz Laguna A, Rousso E, Anheim M, Cossee M, Tranchant C. A family with early-onset and rapidly progressive X-linked spinal and bulbar muscular atrophy. Neurology. 2005;64:1458-60 pubmed
  7. Abdulrazzak N, Pollet B, Ehlting J, Larsen K, Asnaghi C, Ronseau S, et al. A coumaroyl-ester-3-hydroxylase insertion mutant reveals the existence of nonredundant meta-hydroxylation pathways and essential roles for phenolic precursors in cell expansion and plant growth. Plant Physiol. 2006;140:30-48 pubmed
    ..The purple coloration of their leaves is correlated to the accumulation of sinapoylated anthocyanins. ..
  8. Mirzaa G, Conti V, Timms A, Smyser C, Ahmed S, Carter M, et al. Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study. Lancet Neurol. 2015;14:1182-95 pubmed publisher
    ..The phenotypic variability and low-level mosaicism, which challenge conventional molecular methods, have important implications for genetic testing and counselling. US National Institutes of Health. ..
  9. Gantner P, Morand Joubert L, Sueur C, Raffi F, Fagard C, Lascoux Combe C, et al. Drug resistance and tropism as markers of the dynamics of HIV-1 DNA quasispecies in blood cells of heavily pretreated patients who achieved sustained virological suppression. J Antimicrob Chemother. 2016;71:751-61 pubmed publisher
    ..Using longitudinal UDS analysis and focusing on DRAMs and tropism as markers, we demonstrated that, despite sustained virological control, archived HIV-1 DNA quasispecies continued to evolve. ..

More Information

Publications174 found, 100 shown here

  1. Chassaing N, Davis E, McKnight K, Niederriter A, Causse A, David V, et al. Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network. Genome Res. 2016;26:474-85 pubmed publisher
  2. Degryse E. Development of stable, genetically well-defined conditionally viable Escherichia coli strains. Mol Gen Genet. 1991;227:49-51 pubmed
    ..In this paper, the substitution of the dapD gene of Escherichia coli with the kanamycin resistance gene from Tn903 is described and its possible uses are discussed. ..
  3. Saudou F, Amara D, Dierich A, LeMeur M, Ramboz S, Segu L, et al. Enhanced aggressive behavior in mice lacking 5-HT1B receptor. Science. 1994;265:1875-8 pubmed
    ..Moreover, when confronted with an intruder, mutant mice attacked the intruder faster and more intensely than did wild-type mice, suggesting the participation of 5-HT1B receptors in aggressive behavior. ..
  4. Lai L, Tanimoto A, Lai S, Chen W, Marathe I, Westhof E, et al. A novel double kink-turn module in euryarchaeal RNase P RNAs. Nucleic Acids Res. 2017;45:7432-7440 pubmed publisher
    ..In addition, our results support an unprecedented 'double K-turn' module in type A and type M archaeal RPR variants. ..
  5. Ouahchi K, Arita M, Kayden H, Hentati F, Ben Hamida M, Sokol R, et al. Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein. Nat Genet. 1995;9:141-5 pubmed
    ..Two other mutations were found in single families. The finding of alpha TTP gene mutations in AVED patients substantiates the therapeutic role of vitamin E as a protective agent against neurological damage in this disease. ..
  6. Heitzler P, Coulson D, Saenz Robles M, Ashburner M, Roote J, Simpson P, et al. Genetic and cytogenetic analysis of the 43A-E region containing the segment polarity gene costa and the cellular polarity genes prickle and spiny-legs in Drosophila melanogaster. Genetics. 1993;135:105-15 pubmed
    ..In addition 19 novel lethal complementation groups and two semi-lethal complementation groups with morphogenetic escaper phenotypes are described. ..
  7. Geslain R, Martin F, Camasses A, Eriani G. A yeast knockout strain to discriminate between active and inactive tRNA molecules. Nucleic Acids Res. 2003;31:4729-37 pubmed
    ..5-fold in vivo. This suggests that, unlike in the Escherichia coli tRNA(Arg):ArgRS system where residue 20 (A) is a major identity element, in yeast this position is of limited consequence. ..
  8. Hichri H, Stoetzel C, Laurier V, Caron S, Sigaudy S, Sarda P, et al. Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. Eur J Hum Genet. 2005;13:607-16 pubmed
    ..This study underlines the genetic heterogeneity of the BBS and the involvement of possibly unidentified genes. ..
  9. Rall T, Harris B. Identification of the lesion in the stimulatory GTP-binding protein of the uncoupled S49 lymphoma. FEBS Lett. 1987;224:365-71 pubmed
    ..A single nucleotide transversion was found that coded for a proline rather than an arginine at residue 389. The results indicate a domain of the alpha-subunit of Gs that specifically interacts with hormone receptors. ..
  10. Bouvier Nav P, Benveniste P, Oelkers P, Sturley S, Schaller H. Expression in yeast and tobacco of plant cDNAs encoding acyl CoA:diacylglycerol acyltransferase. Eur J Biochem. 2000;267:85-96 pubmed
  11. Marcias G, Erdmann E, Lapouge G, Siebert C, Barthelemy P, Duclos B, et al. Identification of novel truncated androgen receptor (AR) mutants including unreported pre-mRNA splicing variants in the 22Rv1 hormone-refractory prostate cancer (PCa) cell line. Hum Mutat. 2010;31:74-80 pubmed publisher
    ..Future work on the 22Rv1 cell line should take into account the concomitant expression of various AR mutants. ..
  12. Eriani G, Dirheimer G, Gangloff J. Structure-function relationship of arginyl-tRNA synthetase from Escherichia coli: isolation and characterization of the argS mutation MA5002. Nucleic Acids Res. 1990;18:1475-9 pubmed
    ..The position of this mutation and its effect on enzymatic properties suggest the implication of arginine 134 in ATP binding as well as in the activation catalytic process. ..
  13. Sanchez Lopez R, Nicholson R, Gesnel M, Matrisian L, Breathnach R. Structure-function relationships in the collagenase family member transin. J Biol Chem. 1988;263:11892-9 pubmed
  14. De La Salle H, Hanau D, Fricker D, Urlacher A, Kelly A, Salamero J, et al. Homozygous human TAP peptide transporter mutation in HLA class I deficiency. Science. 1994;265:237-41 pubmed
    ..In addition, CD8+ alpha beta T cells were present in low but significant numbers and were cytotoxic in the most severely affected sibling, who also showed an increase in CD4+CD8+ T cells and gamma delta T cells...
  15. Matt N, Ghyselinck N, Pellerin I, Dupé V. Impairing retinoic acid signalling in the neural crest cells is sufficient to alter entire eye morphogenesis. Dev Biol. 2008;320:140-8 pubmed publisher
    ..Interestingly, we observed that RA is required in the neural crest cells for normal position of the extraocular muscle. ..
  16. Haas G, Azevedo J, Moissiard G, Geldreich A, Himber C, Bureau M, et al. Nuclear import of CaMV P6 is required for infection and suppression of the RNA silencing factor DRB4. EMBO J. 2008;27:2102-12 pubmed publisher
    ..This study identifies both genetic and physical interactions between a VSR to a host RNA silencing component, and highlights the importance of subcellular compartmentalization in VSR function...
  17. Koechler S, Cleiss Arnold J, Proux C, Sismeiro O, Dillies M, Goulhen Chollet F, et al. Multiple controls affect arsenite oxidase gene expression in Herminiimonas arsenicoxydans. BMC Microbiol. 2010;10:53 pubmed publisher
    ..Herminiimonas arsenicoxydans has been isolated from an arsenic- contaminated environment and has developed various mechanisms for coping with arsenic, including the oxidation of As(III) to As(V) as a detoxification mechanism...
  18. Kury S, van Woerden G, Besnard T, Proietti Onori M, Latypova X, Towne M, et al. De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. Am J Hum Genet. 2017;101:768-788 pubmed publisher
    ..Our data establish the importance of CAMK2A and CAMK2B and their auto-phosphorylation in human brain function and expand the phenotypic spectrum of the disorders caused by variants in key players of the glutamatergic signaling pathway. ..
  19. Philippe C, Benard L, Eyermann F, Cachia C, Kirillov S, Portier C, et al. Structural elements of rps0 mRNA involved in the modulation of translational initiation and regulation of E. coli ribosomal protein S15. Nucleic Acids Res. 1994;22:2538-46 pubmed
  20. Gilfillan S, Dierich A, LeMeur M, Benoist C, Mathis D. Mice lacking TdT: mature animals with an immature lymphocyte repertoire. Science. 1993;261:1175-8 pubmed
    ..Thus, switch-on of the TdT gene during the first week after birth provokes an even greater expansion of lymphocyte receptor diversity than had previously been thought. ..
  21. Miard S, Peterkova R, Vonesch J, Peterka M, Ruch J, Lesot H. Alterations in the incisor development in the Tabby mouse. Int J Dev Biol. 1999;43:517-29 pubmed
    ..Our observations suggest independent development of the labial and lingual parts of the cervical loop. Furthermore, it appeared that the consequences of Ta mutation could not be interpreted only as a delay in tooth development. ..
  22. Gasnier C, Lugardon K, Ruh O, Strub J, Aunis D, Metz Boutigue M. Characterization and location of post-translational modifications on chromogranin B from bovine adrenal medullary chromaffin granules. Proteomics. 2004;4:1789-801 pubmed
    ..Furthermore, we have identified at the molecular level the presence of a mutation M/V on position 577 of natural CGB. All together these data reflect the complex structure of this protein marker of the neuroendocrine system. ..
  23. Cardone L, Hirayama J, Giordano F, Tamaru T, Palvimo J, Sassone Corsi P. Circadian clock control by SUMOylation of BMAL1. Science. 2005;309:1390-4 pubmed
    ..This reveals an additional level of regulation within the core mechanism of the circadian clock. ..
  24. Dupuis L, Fergani A, Braunstein K, Eschbach J, Holl N, Rene F, et al. Mice with a mutation in the dynein heavy chain 1 gene display sensory neuropathy but lack motor neuron disease. Exp Neurol. 2009;215:146-52 pubmed publisher
    ..Altogether, these findings show that dynein heavy chain mutation triggers sensory neuropathy rather than motor neuron disease. ..
  25. Fofana I, Fafi Kremer S, Carolla P, Fauvelle C, Zahid M, Turek M, et al. Mutations that alter use of hepatitis C virus cell entry factors mediate escape from neutralizing antibodies. Gastroenterology. 2012;143:223-233.e9 pubmed publisher
    ..These findings advance our understanding of the pathogenesis of HCV infection and might be used to develop antiviral strategies and vaccines. ..
  26. Blanco I, Kuchenbaecker K, Cuadras D, Wang X, Barrowdale D, de Garibay G, et al. Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers. PLoS ONE. 2015;10:e0120020 pubmed publisher
    ..Together, the results of this study support the hypothesis of a causative link between altered function of AURKA-HMMR-TPX2-TUBG1 and breast carcinogenesis in BRCA1/2 mutation carriers. ..
  27. Mackay A, Burford A, Carvalho D, Izquierdo E, Fazal Salom J, Taylor K, et al. Integrated Molecular Meta-Analysis of 1,000 Pediatric High-Grade and Diffuse Intrinsic Pontine Glioma. Cancer Cell. 2017;32:520-537.e5 pubmed publisher
  28. Heitzler P, Simpson P. The choice of cell fate in the epidermis of Drosophila. Cell. 1991;64:1083-92 pubmed
    ..It also suggests that N acts as a receptor for an inhibitory signal emanating from the neural precursors. ..
  29. Tora L, Mullick A, Metzger D, Ponglikitmongkol M, Park I, Chambon P. The cloned human oestrogen receptor contains a mutation which alters its hormone binding properties. EMBO J. 1989;8:1981-6 pubmed
    ..This mutation in the hormone binding domain of the cloned hER destabilizes its structure and decreases its apparent affinity for oestradiol at 25 degrees C, but not at 4 degrees C, when compared with the wild-type hER with a Gly-400. ..
  30. Hannauer M, Schäfer M, Hoegy F, Gizzi P, Wehrung P, Mislin G, et al. Biosynthesis of the pyoverdine siderophore of Pseudomonas aeruginosa involves precursors with a myristic or a myristoleic acid chain. FEBS Lett. 2012;586:96-101 pubmed publisher
  31. Weber E, Rodriguez C, Chevallier M, Jund R. The purine-cytosine permease gene of Saccharomyces cerevisiae: primary structure and deduced protein sequence of the FCY2 gene product. Mol Microbiol. 1990;4:585-96 pubmed
    ..The FCY2 gene was mapped on the right arm of chromosome V close to the HIS1 gene. ..
  32. Giangrande A, Mettling C, Martin M, Ruiz C, Richards G. Drosophila Sgs3 TATA: effects of point mutations on expression in vivo and protein binding in vitro with staged nuclear extracts. EMBO J. 1989;8:3459-66 pubmed
  33. Haenlin M, McDonald W, Cibert C, Mohier E. The angle of the dorsoventral axis with respect to the anteroposterior axis in the Drosophila embryo is controlled by the distribution of gurken mRNA in the oocyte. Mech Dev. 1995;49:97-106 pubmed
    ..The alteration of the embryonic fate map could be traced back to oogenesis where it was shown to correlate with the mislocalization of the grk transcripts. ..
  34. Schreuder H, Rondeau J, Tardif C, Soffientini A, Sarubbi E, Akeson A, et al. Refined crystal structure of the interleukin-1 receptor antagonist. Presence of a disulfide link and a cis-proline. Eur J Biochem. 1995;227:838-47 pubmed
    ..Other putative interaction regions, as identified with mutagenesis studies, are structurally conserved and rigid, allowing precise and specific interactions with the IL-1 receptor. ..
  35. Mark M, Lufkin T, Dolle P, Dierich A, LeMeur M, Chambon P. Roles of Hox genes: what we have learnt from gain of function and loss of function mutations in the mouse. C R Acad Sci III. 1993;316:995-1008 pubmed
    ..Here, we discuss the phenotypes of two kinds of Hox mutant mice which show that vertebrate Hox genes are functional homologues of Drosophila genes of the HOM-C complex. ..
  36. Pages V, Fuchs R. How DNA lesions are turned into mutations within cells?. Oncogene. 2002;21:8957-66 pubmed
    ..We present recent aspects related to the genetics and biochemistry of TLS and highlight some of the remaining hot topics of this field. ..
  37. Lesot H, Peterkova R, Kristenová P, Lisi S, Peterka M. [Effect of the Tabby mutation on the dentition of mice]. Bull Group Int Rech Sci Stomatol Odontol. 2003;45:1-11 pubmed
  38. Pazhouhandeh M, Dieterle M, Marrocco K, Lechner E, Berry B, Brault V, et al. F-box-like domain in the polerovirus protein P0 is required for silencing suppressor function. Proc Natl Acad Sci U S A. 2006;103:1994-9 pubmed
    ..Together, the results support a model in which P0 acts as an F-box protein that targets an essential component of the host posttranscriptional gene silencing machinery. ..
  39. Bringel F, Vuilleumier S, Arsène Ploetze F. Low carbamoyl phosphate pools may drive Lactobacillus plantarum CO2-dependent growth phenotype. J Mol Microbiol Biotechnol. 2008;14:22-30 pubmed
    ..plantarum isolates. ..
  40. Mendoza J, Pevet P, Felder Schmittbuhl M, Bailly Y, Challet E. The cerebellum harbors a circadian oscillator involved in food anticipation. J Neurosci. 2010;30:1894-904 pubmed publisher
    ..Together, these data define a role for the cerebellum in the circadian timing network and indicate that the cerebellar oscillator is required for anticipation of mealtime. ..
  41. Muller J, Stoetzel C, Vincent M, Leitch C, Laurier V, Danse J, et al. Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease. Hum Genet. 2010;127:583-93 pubmed publisher
    ..We discuss the various strategies for diagnostic mutation detection, including homozygosity mapping and targeted arrays for the detection of previously reported mutations. ..
  42. Adriaenssens E, Geuens T, Baets J, Echaniz Laguna A, Timmerman V. Novel insights in the disease biology of mutant small heat shock proteins in neuromuscular diseases. Brain. 2017;140:2541-2549 pubmed publisher
    ..Recently, the clinical spectrum of HSPB1 and HSPB8 mutations was expanded to also include myopathies. Here we provide an update on the molecular genetics and biology of small heat shock protein mutations in neuromuscular diseases...
  43. Koffel Schwartz N, Fuchs R. Genetic control of AAF-induced mutagenesis at alternating GC sequences: an additional role for RecA. Mol Gen Genet. 1989;215:306-11 pubmed
    ..Therefore, RecA does not actively participate in the fixation of the mutation. A molecular model for this "additional" role of RecA is proposed...
  44. Georgel P, Naitza S, Kappler C, Ferrandon D, Zachary D, Swimmer C, et al. Drosophila immune deficiency (IMD) is a death domain protein that activates antibacterial defense and can promote apoptosis. Dev Cell. 2001;1:503-14 pubmed
    ..We also show that imd is involved in the apoptotic response to UV irradiation. These data raise the possibility that antibacterial response and apoptosis share common control elements in Drosophila. ..
  45. Cribier B, Chiaverini C, Dali Youcef N, Schmitt M, Grima M, Hirth C, et al. Porphyria cutanea tarda, hepatitis C, uroporphyrinogen decarboxylase and mutations of HFE gene. A case-control study. Dermatology. 2009;218:15-21 pubmed publisher
    ..A low erythrocytic UROD might be a predisposing factor. The UROD value was lower in patients with HFE mutations, suggesting a possible interaction between HFE genotype and UROD levels. ..
  46. Kamenski P, Smirnova E, Kolesnikova O, Krasheninnikov I, Martin R, Entelis N, et al. tRNA mitochondrial import in yeast: Mapping of the import determinants in the carrier protein, the precursor of mitochondrial lysyl-tRNA synthetase. Mitochondrion. 2010;10:284-93 pubmed publisher
    ..In this work, we identify the hinge region with two adjacent helices H5 and H7 to be responsible for mitochondrial targeting of the tRNA and characterize preMsk1p versions with altered tRK1 import capacities. ..
  47. Smyth R, Negroni M. A step forward understanding HIV-1 diversity. Retrovirology. 2016;13:27 pubmed publisher
    ..These recent findings are presented here and their implications for the development of future researches are discussed. ..
  48. Ivanova E, Mau Them F, Riazuddin S, Kahrizi K, Laugel V, Schaefer E, et al. Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development. Am J Hum Genet. 2017;101:428-440 pubmed publisher
    ..We propose that mutations in TBC1D23 are responsible for a form of PCH with small, normally proportioned cerebellum and should be screened in individuals with syndromic pontocereballar hypoplasia. ..
  49. Hans F, Pinck M, Pinck L. Location of the replication determinants of the satellite RNA associated with grapevine fanleaf nepovirus (strain F13). Biochimie. 1993;75:597-603 pubmed
    ..Analysis of the in vitro translation products from transcripts of RNA3 clones of different lengths indicates that the double band formed by P3 could result from phosphorylation of a part of this protein...
  50. Kastner P, Messaddeq N, Mark M, Wendling O, Grondona J, Ward S, et al. Vitamin A deficiency and mutations of RXRalpha, RXRbeta and RARalpha lead to early differentiation of embryonic ventricular cardiomyocytes. Development. 1997;124:4749-58 pubmed
  51. Richards G, Da Lage J, Huet F, Ruiz C. The acquisition of competence to respond to ecdysone in Drosophila is transcript specific. Mech Dev. 1999;82:131-9 pubmed
    ..Furthermore these inhibitors lead to the induction of betaFTZ-F1 and E93 transcripts at levels normally found in prepupal glands. These studies reveal the complexity of the processes underlying the establishment of a hormonal response. ..
  52. Geslain R, Martin F, Delagoutte B, Cavarelli J, Gangloff J, Eriani G. In vivo selection of lethal mutations reveals two functional domains in arginyl-tRNA synthetase. RNA. 2000;6:434-48 pubmed
    ..Furthermore, by using different tRNA(Arg) isoacceptors and heterologous tRNA(Asp), we highlighted the crucial role of several residues of the carboxy-terminal domain in tRNA recognition and discrimination. ..
  53. Vallone D, Pignatelli M, Grammatikopoulos G, Ruocco L, Bozzi Y, Westphal H, et al. Activity, non-selective attention and emotionality in dopamine D2/D3 receptor knock-out mice. Behav Brain Res. 2002;130:141-8 pubmed
    ..Lastly double mutation experiments reveal an interaction between D2R and D3R with the former prevailing on the latter. ..
  54. Berr A, McCallum E, Ménard R, Meyer D, Fuchs J, Dong A, et al. Arabidopsis SET DOMAIN GROUP2 is required for H3K4 trimethylation and is crucial for both sporophyte and gametophyte development. Plant Cell. 2010;22:3232-48 pubmed publisher
    ..Our data suggest that SDG2-mediated H3K4me3 deposition poises SPL/NZZ and MS1 for transcriptional activation, forming a key regulatory mechanism in the gene networks responsible for gametophyte development. ..
  55. Hoffmann L, Maury S, Bergdoll M, Thion L, Erard M, Legrand M. Identification of the enzymatic active site of tobacco caffeoyl-coenzyme A O-methyltransferase by site-directed mutagenesis. J Biol Chem. 2001;276:36831-8 pubmed
  56. Bringel F, Hubert J. Extent of genetic lesions of the arginine and pyrimidine biosynthetic pathways in Lactobacillus plantarum, L. paraplantarum, L. pentosus, and L. casei: prevalence of CO(2)-dependent auxotrophs and characterization of deficient arg genes in L. plantar. Appl Environ Microbiol. 2003;69:2674-83 pubmed
    ..These HCR auxotrophs may have had their CP cellular pool-related genes altered or deregulated...
  57. Romby P, Brunel C, Caillet J, Springer M, Grunberg Manago M, Westhof E, et al. Molecular mimicry in translational control of E. coli threonyl-tRNA synthetase gene. Competitive inhibition in tRNA aminoacylation and operator-repressor recognition switch using tRNA identity rules. Nucleic Acids Res. 1992;20:5633-40 pubmed
    ..The present data demonstrate that the anticodon-like sequence is one major determinant for the identity of the operator and the regulation specificity. It further shows that the tRNA-like operator obeys to tRNA identity rules. ..
  58. Philippe C, Portier C, Mougel M, Grunberg Manago M, Ebel J, Ehresmann B, et al. Target site of Escherichia coli ribosomal protein S15 on its messenger RNA. Conformation and interaction with the protein. J Mol Biol. 1990;211:415-26 pubmed
    ..A mechanism can be postulated in which the regulatory protein stabilizes this particular structure, thus impeding ribosome initiation. ..
  59. Mantovani R, Li X, Pessara U, Hooft van Huisjduijnen R, Benoist C, Mathis D. Dominant negative analogs of NF-YA. J Biol Chem. 1994;269:20340-6 pubmed
    ..We also show that DNA-binding mutants act as dominant repressors of NF-Y-DNA complex formation and of NF-Y-dependent transcription. ..
  60. Husselstein T, Schaller H, Gachotte D, Benveniste P. Delta7-sterol-C5-desaturase: molecular characterization and functional expression of wild-type and mutant alleles. Plant Mol Biol. 1999;39:891-906 pubmed
    ..The occurrence of a hydroxylated amino acid (Thr or Ser) at the position corresponding to Thr-114 in the five delta7-sterol-C5(6)-desaturases identified so far suggests that this amino acid is important for normal enzymatic function...
  61. Schaefer E, Durand M, Stoetzel C, Doray B, Viville B, Hellé S, et al. Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes. Eur J Med Genet. 2011;54:157-60 pubmed publisher
  62. Tourne S, Maitre B, Collmann A, Layre E, Mariotti S, Signorino Gelo F, et al. Cutting edge: a naturally occurring mutation in CD1e impairs lipid antigen presentation. J Immunol. 2008;180:3642-6 pubmed
    ..Although the allele 4 of CD1E is not frequent in the population, our findings suggest that homozygous individuals might display an altered immune response to complex glycolipid Ags. ..
  63. Kieffer E, Nicod J, Gardes N, Kastner C, Becker N, Celebi C, et al. Improving preimplantation genetic diagnosis for Fragile X syndrome: two new powerful single-round multiplex indirect and direct tests. Eur J Hum Genet. 2016;24:221-7 pubmed publisher
    ..This may increase the chances of success of couples requesting a PGD for FraX, in particular, when premature ovarian insufficiency in premutated women leads to a reduced number of embryos available for analysis. ..
  64. Beau Faller M, Degeorges A, Rolland E, Mounawar M, Antoine M, Poulot V, et al. Cross-validation study for epidermal growth factor receptor and KRAS mutation detection in 74 blinded non-small cell lung carcinoma samples: a total of 5550 exons sequenced by 15 molecular French laboratories (evaluation of the EGFR mutation status f. J Thorac Oncol. 2011;6:1006-15 pubmed publisher
    ..Ease and accuracy of results, depended more on the quality of sample than on the difference in molecular sequencing procedures between centers, emphasize the need of preanalytical quality control programs. ..
  65. Morvan J, Rinaldi B, Friant S. Pkh1/2-dependent phosphorylation of Vps27 regulates ESCRT-I recruitment to endosomes. Mol Biol Cell. 2012;23:4054-64 pubmed publisher
    ..We propose that Vps27 phosphorylation by Pkh1/2 kinases regulates the coordinated cascade of ESCRT complex recruitment at the endosomal membrane. ..
  66. Bernacchi S, Mercenne G, Tournaire C, Marquet R, Paillart J. Importance of the proline-rich multimerization domain on the oligomerization and nucleic acid binding properties of HIV-1 Vif. Nucleic Acids Res. 2011;39:2404-15 pubmed publisher
    ..Dynamic light scattering showed that Vif oligomerization, and interaction with folding-promoting nucleic acids, favor formation of high molecular mass complexes. These properties could be important for Vif functions involving RNAs. ..
  67. Lanza F, Stierle A, Fournier D, Morales M, Andre G, Nurden A, et al. A new variant of Glanzmann's thrombasthenia (Strasbourg I). Platelets with functionally defective glycoprotein IIb-IIIa complexes and a glycoprotein IIIa 214Arg----214Trp mutation. J Clin Invest. 1992;89:1995-2004 pubmed
    ..This substitution points to an essential amino acid in a region of GPIIIa involved in the binding of fibrinogen and influencing the Ca(2+)-dependent stability of the GPIIb-IIIa complex. ..
  68. Philippe C, Benard L, Portier C, Westhof E, Ehresmann B, Ehresmann C. Molecular dissection of the pseudoknot governing the translational regulation of Escherichia coli ribosomal protein S15. Nucleic Acids Res. 1995;23:18-28 pubmed
    ..S15 sits on the deep groove of the co-axial stack and makes contacts with both stems, shielding the bridging adenine. The only specific sequence determinants are found in the helix common to the pseudoknot and the hairpin structures. ..
  69. Gaiddon C, Lokshin M, Gross I, Levasseur D, Taya Y, Loeffler J, et al. Cyclin-dependent kinases phosphorylate p73 at threonine 86 in a cell cycle-dependent manner and negatively regulate p73. J Biol Chem. 2003;278:27421-31 pubmed
    ..Our results demonstrate that p73 proteins are targets of CDK complexes and that phosphorylation on Thr86 by CDKs regulates p73 functions. ..
  70. Kolesnikova O, Entelis N, Jacquin Becker C, Goltzene F, Chrzanowska Lightowlers Z, Lightowlers R, et al. Nuclear DNA-encoded tRNAs targeted into mitochondria can rescue a mitochondrial DNA mutation associated with the MERRF syndrome in cultured human cells. Hum Mol Genet. 2004;13:2519-34 pubmed
    ..These findings prove for the first time the functionality of imported tRNAs in human mitochondria in vivo and highlight the potential for exploiting the RNA import pathway to treat patients with mtDNA diseases...
  71. Lange H, Holec S, Cognat V, Pieuchot L, Le Ret M, Canaday J, et al. Degradation of a polyadenylated rRNA maturation by-product involves one of the three RRP6-like proteins in Arabidopsis thaliana. Mol Cell Biol. 2008;28:3038-44 pubmed publisher
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