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Model for the architecture of caveolae based on a flexible, net-like assembly of cavin1 and caveolin discs Stoeber, Miriam Carolin; Schellenberger, Pascale; Siebert, C Alistair; Leyrat, Cedric; ... Grünewald, Kay 2016
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Whole exome sequencing of a dominant retinitis pigmentosa family identifies a novel deletion in PRPF31 Villanueva, Adda; Willer, Jason R; Bryois, Julien; Dermitzakis, Emmanouil; ... Davis, Erica E 2014
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Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature Sloan Bena, Frédérique; Bruno, Damien L; Eriksson, Mats; van Ravenswaaij-Arts, Conny; ... Schoumans, Jacqueline 2013
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Analyses of the functional regions of DEAD-box RNA "helicases" with deletion and chimera constructs tested in vivo and in vitro Banroques, Josette; Cordin, Olivier; Doere, Monique; Linder, Patrick; Tanner, N Kyle 2011
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Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype Clot, Fabienne; Grabli, David; Burbaud, Pierre; Aya, Magali; ... Brice, Alexis 2011
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Loss of Dicer in Sertoli cells has a major impact on the testicular proteome of mice Papaioannou, Marilena D; Lagarrigue, Mélanie; Vejnar, Charles; Rolland, Antoine D; ... Nef, Serge 2011
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Transcriptome analysis of Neisseria meningitidis in human whole blood and mutagenesis studies identify virulence factors involved in blood survival Echenique-Rivera, Hebert; Muzzi, Alessandro; Del Tordello, Elena; Seib, Kate L; ... Serruto, Davide 2011
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Combined pancreatic islet-lung transplantation: a novel approach to the treatment of end-stage cystic fibrosis Kessler, L.; Bakopoulou, S.; Kessler, R.; Massard, G.; ... Berney, Thierry 2010
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NS-based live attenuated H1N1 pandemic vaccines protect mice and ferrets Zhou, Bin; Li, Yan; Belser, Jessica A; Pearce, Melissa B; ... Wentworth, David E 2010
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Inherited dysfibrinogenemia: clinical phenotypes associated with five different fibrinogen structure defects Miesbach, Wolfgang; Scharrer, Inge; Henschen, Agnes; Neerman Arbez, Marguerite; ... Galanakis, Dennis 2010
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Control of the Staphylococcus aureus toxic shock tst promoter by the global regulator SarA Andrey, Diego Olivier; Renzoni, Adriana Maria; Monod, Antoinette; Lew, Daniel Pablo; ... Kelley, William 2010
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Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screening D'Haene, B.; Attanasio, Catia; Beysen, Diane; Dostie, Josee; ... De Baere, Elfride 2009
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A novel frameshift mutation in FGA accounting for congenital afibrinogenemia predicted to encode an aberrant peptide terminating 158 amino acids downstream Robert-Ebadi, Helia; De Moerloose, Philippe; El Khorassani, M.; El Khattab, M.; Neerman Arbez, Marguerite 2009
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Haematologic data, iron parameters and molecular findings in two new cases of iron-refractory iron deficiency anaemia Tchou, Isabelle; Diepold, Myriam; Pilotto, P. A.; Swinkels, Dorine; ... Beris, Photis 2009
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A novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in function Spinazzi, Marco; Cazzola, Silvia; Bortolozzi, Mario; Baracca, Alessandra; ... Vergani, Lodovica 2008
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Impact of a three amino acid deletion in the CH2 domain of murine IgG1 on Fc-associated effector functions Baudino, Lucie Clementine; Nimmerjahn, Falk; Shinohara, Yasuro; Furukawa, Jun-Ichi; ... Izui, Shozo 2008
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p23/Sba1p protects against Hsp90 inhibitors independently of its intrinsic chaperone activity Forafonov, Fedor; Toogun, Oyetunji A.; Grad, Iwona; Suslova, Elena; ... Picard, Didier 2008
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CFTR in a lipid raft-TNFR1 complex modulates gap junctional intercellular communication and IL-8 secretion Dudez, Tecla; Borot, Florence; Huang, Song; Kwak, Brenda; ... Chanson, Marc 2008
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Coordination of Hpr1 and ubiquitin binding by the UBA domain of the mRNA export factor Mex67 Hobeika, Maria; Brockmann, Christoph; Iglesias, Nahid; Gwizdek, Carole; ... Dargemont, Catherine 2007
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A SAGA-independent function of SPT3 mediates transcriptional deregulation in a mutant of the Ccr4-not complex in Saccharomyces cerevisiae James, Nicole; Landrieux, Emilie; Collart, Martine 2007
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Molecular mechanisms accounting for fibrinogen deficiency: from large deletions to intracellular retention of misfolded proteins Vu, Dung; Neerman Arbez, Marguerite 2007
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Mutations in the fibrinogen gene cluster accounting for congenital afibrinogenemia: an update and report of 10 novel mutations Neerman Arbez, Marguerite; De Moerloose, Philippe 2007
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Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions Howald, C.; Merla, Giuseppe; Digilio, M. C.; Amenta, S.; ... Reymond, Alexandre 2006
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Fibrinogen and fibronectin binding cooperate for valve infection and invasion in Staphylococcus aureus experimental endocarditis Que, Y. A.; Haefliger, J. A.; Piroth, Lionel; Francois, Patrice; ... Moreillon, Philippe 2005
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Promoter IV of the class II transactivator gene is essential for positive selection of CD4+ T cells Waldburger, Jean-Marc; Rossi, Simona; Hollander, Georg; Rodewald, H. R.; ... Acha-Orbea, Hans 2003
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Role of the carboxyl terminal of connexin43 in transjunctional fast voltage gating Moreno, Alonso P; Chanson, Marc; Elenes, Sergio; Anumonwo, Justus; ... Delmar, Mario 2002
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Fibrinogen gene mutations accounting for congenital afibrinogenemia Neerman Arbez, Marguerite 2001
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Nomenclature for the description of human sequence variations den Dunnen, J. T.; Antonarakis, Stylianos 2001
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Founder effect for a 26-bp deletion in the RFXANK gene in North African major histocompatibility complex class II-deficient patients belonging to complementation group B Wiszniewski, W.; Fondaneche, M. C.; Lambert, N.; Masternak, Krzysztof; ... Lisowska-Grospierre, B. 2000
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Dysregulated expression of the Cd22 gene as a result of a short interspersed nucleotide element insertion in Cd22a lupus-prone mice Mary, Charles; Laporte, Catherine; Parzy, Daniel; Santiago-Raber, Marie-Laure; ... Reininger, Luc 2000
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Identification of a novel saturable endoplasmic reticulum localization mechanism mediated by the C-terminus of a Dictyostelium protein disulfide isomerase Monnat, J; Neuhaus, E M; Pop, M S; Ferrari, D M; ... Soldati, Thierry 2000
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Mutations in the fibrinogen aalpha gene account for the majority of cases of congenital afibrinogenemia Neerman Arbez, Marguerite; De Moerloose, Philippe; Bridel, C.; Honsberger, A.; ... Morris, Michael Andréw 2000
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Mutation analyses of North American APS-1 patients Heino, M.; Scott, Hamish Steele; Chen, Q.; Peterson, P.; ... Krohn, K. 1999
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Altered spacing of promoter elements due to the dodecamer repeat expansion contributes to reduced expression of the cystatin B gene in EPM1 Lalioti, M. D.; Scott, Hamish Steele; Antonarakis, Stylianos 1999
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The 11 kb FGA deletion responsible for congenital afibrinogenaemia is mediated by a short direct repeat in the fibrinogen gene cluster Neerman Arbez, Marguerite; Antonarakis, Stylianos; Honsberger, A.; Morris, Michael Andréw 1999
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Conservation of functional domains involved in RNA binding and protein-protein interactions in human and Saccharomyces cerevisiae pre-mRNA splicing factor SF1 Rain, J C; Rafi, Zahra; Rhani, Zakaria; Legrain, P; Kraemer, Angela 1998
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A truncation in the 14 kDa protein of the signal recognition particle leads to tertiary structure changes in the RNA and abolishes the elongation arrest activity of the particle Thomas, Yves; Bui, Nazarena; Strub, Katharina 1997
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Identification of a minimal Alu RNA folding domain that specifically binds SRP9/14 Weichenrieder, Oliver Ulrich; Kapp, U; Cusack, S; Strub, Katharina 1997
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The dipeptide repeat region of the fibrinogen-binding protein (clumping factor) is required for functional expression of the fibrinogen-binding domain on the Staphylococcus aureus cell surface Hartford, O. M.; Francois, Patrice; Vaudaux, Pierre; Foster, T. J. 1997
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Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1) Lalioti, M. D.; Mirotsou, M.; Buresi, C.; Peitsch, M. C.; ... Antonarakis, Stylianos 1997
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Essential domains of the PRP21 splicing factor are implicated in the binding to PRP9 and PRP11 proteins and are conserved through evolution Rain, J C; Tartakoff, A M; Kraemer, Angela; Legrain, P 1996
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Partial characterization of a Sendai virus replication promoter and the rule of six Pelet, Thierry; Delenda, Christophe; Gubbay, Oliver James; Garcin, Dominique; Kolakofsky, Daniel 1996
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Molecular etiology of factor VIII deficiency in hemophilia A Antonarakis, Stylianos; Kazazian, H. H.; Tuddenham, E. G. 1995
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Schizophrenia and chromosomal deletions within 22q11.2 Lindsay, E. A.; Morris, Michael Andréw; Gos, A.; Nestadt, G.; ... Pulver, A. E. 1995