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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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Fibrinogen gene mutations accounting for congenital afibrinogenemia Neerman Arbez, Marguerite 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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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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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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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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