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Imipenem heteroresistance in nontypeable Haemophilus influenzae is linked to a combination of altered PBP3, slow drug influx and direct efflux regulation Cherkaoui, Abdessalam; Diene, S M; Renzoni, Adriana Maria; Emonet, Stéphane Paul; ... Schrenzel, Jacques 2017
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A single amino acid substitution in the novel H7N9 influenza A virus NS1 protein increases CPSF30 binding and virulence Ayllon, Juan; Domingues, Patricia; Rajsbaum, Ricardo; Miorin, Lisa; ... García-Sastre, Adolfo 2014
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Purifying selection in mammalian mitochondrial protein-coding genes is highly effective and congruent with evolution of nuclear genes Popadin, Konstantin; Nikolaev, Sergey Igorievich; Junier, Thomas; Baranova, Maria; Antonarakis, Stylianos 2013
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Structural basis for polyadenosine-RNA binding by Nab2 Zn fingers and its function in mRNA nuclear export Brockmann, Christoph; Soucek, Sharon; Kuhlmann, Sonja I.; Mills-Lujan, Katherine; ... Stewart, Murray 2012
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Identification of a novel F11 missense mutation (Ile463Ser) in a family with congenital factor XI deficiency Tirefort, Yordanka; Uhr, Mario R; Neerman Arbez, Marguerite; De Moerloose, Philippe 2012
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Identification of site-specific adaptations conferring increased neural cell tropism during human enterovirus 71 infection Cordey, Samuel; Petty Ii, Thomas John; Schibler, Manuel; Martinez, Yannick; ... Tapparel, Caroline 2012
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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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Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations Ducamp, Sarah; Kannengiesser, Caroline; Touati, Mohamed; Garçon, Loïc; ... Grandchamp, Bernard 2011
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Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia Kannengiesser, Caroline; Sanchez, Mayka; Sweeney, Marion; Hetet, Gilles; ... May, Alison 2011
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COMT but not serotonin-related genes modulates the influence of childhood abuse on anger traits Perroud, Nader Ali; Jaussent, I.; Guillaume, Sébastien; Bellivier, F.; ... Courtet, P. 2010
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Distinct clinical phenotypes associated with JAK2V617F reflect differential STAT1 signaling Chen, Edwin; Beer, Philip A.; Godfrey, Anna L.; Ortmann, Christina A.; ... Green, Anthony R. 2010
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Residues in SRP9/14 essential for elongation arrest activity of the signal recognition particle define a positively charged functional domain on one side of the protein Mary, Camille; Scherrer, Anne Paule Marie; Huck, Laurent; Lakkaraju, Asvin Krishna Kumar; ... Strub, Katharina 2010
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Genotype-phenotype correlation in primary hyperoxaluria type 1: the p.Gly170Arg AGXT mutation is associated with a better outcome Harambat, Jerome; Fargue, Sonia; Acquaviva, Cecile; Gagnadoux, Marie-France; ... Cochat, Pierre 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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The cytotoxic T lymphocyte protease granzyme A cleaves and inactivates poly(adenosine 5'-diphosphate-ribose) polymerase-1 Zhu, Pengcheng; Martinvalet, Denis; Chowdhury, Dipanjan; Zhang, Dong; ... Lieberman, Judy 2009
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Polymorphisms in multidrug resistance-associated protein gene 4 is associated with outcome in childhood acute lymphoblastic leukemia Ansari Djaberi, Marc Georges; Sauty, Géraldine; Labuda, Malgorzata; Gagné, Vincent; ... Krajinovic, Maja 2009
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Severe bleeding and miscarriages in a hypofibrinogenemic woman heterozygous for the gamma Ala82Gly mutation Zdziarska, Joanna; Undas, Anetta; Basa, Joanna; Iwaniec, Teresa; ... Neerman Arbez, Marguerite 2009
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Sequence of a novel HLA-A2 allele in a haematopoietic stem cell donor of the international registry Kervaire, B.; Schmidt, A. H.; Villard, Jean; Tiercy, Jean-Marie 2009
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Modifier effects between regulatory and protein-coding variation Dimas, Antigone S.; Stranger, Barbara E.; Beazley, Claude; Finn, Robert D.; ... Dermitzakis, Emmanouil 2008
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Interaction between BDNF Val66Met and childhood trauma on adult's violent suicide attempt Perroud, N.; Courtet, P.; Vincze, Ilona; Jaussent, I.; ... Malafosse, Alain 2008
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A novel Asp344Val substitution in the fibrinogen gamma chain (fibrinogen Caen) causes dysfibrinogenemia associated with thrombosis Robert-Ebadi, Helia; Le Querrec, Agnès; De Moerloose, Philippe; Gandon-Laloum, Sylvie; ... Neerman Arbez, Marguerite 2008
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A new HLA-DR4 allele, DRB1*0474, with an unusual residue at position 77 Desaules, Claire-Anne; Villard, Jean; Tiercy, Jean-Marie 2008
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Sch9 is a major target of TORC1 in Saccharomyces cerevisiae Urban, Jörg; Soulard, Alexandre; Huber, Alexandre; Lippman, Soyeon; ... Loewith, Robbie 2007
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Frameshift proteins in autosomal dominant forms of Alzheimer disease and other tauopathies van Leeuwen, F W; van Tijn, P; Sonnemans, M A F; Hobo, B; ... Fischer, D F 2006
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Fibrinogen gamma375 arg-->trp mutation (fibrinogen aguadilla) causes hereditary hypofibrinogenemia, hepatic endoplasmic reticulum storage disease and cirrhosis Rubbia-Brandt, Laura; Neerman Arbez, Marguerite; Rougemont, A. L.; Male, P. J.; Spahr, Laurent 2006
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A yeast-based assay reveals a functional defect of the Q488H polymorphism in human Hsp90alpha MacLean, Morag J.; Llordella, Marc Martínez; Bot, Nathalie; Picard, Didier 2005
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Unique substrate specificity of anaplastic lymphoma kinase (ALK): development of phosphoacceptor peptides for the assay of ALK activity Donella-Deana, Arianna; Marin, Oriano; Cesaro, Luca; Gunby, Rosalind H.; ... Pinna, Lorenzo A. 2005
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LRP5 gene polymorphisms and idiopathic osteoporosis in men Ferrari, Serge Livio; Deutsch, Samuel; Baudoin, C.; Cohen-Solal, M.; ... de Vernejoul, M. C. 2005
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The mental retardation protein PAK3 contributes to synapse formation and plasticity in hippocampus Boda, Bernadett; Alberi, Stefano; Nikonenko, Irina; Nodé-Langlois, Roxanne; ... Muller, Dominique 2004
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The Swiss-Prot variant page and the ModSNP database: a resource for sequence and structure information on human protein variants Yip Sonderegger, Yum Lina; Scheib, Holger; Diemand, Alexander; Gattiker, Alexandre; ... Bairoch, Amos Marc 2004
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Polymorphisms in the low-density lipoprotein receptor-related protein 5 (LRP5) gene are associated with variation in vertebral bone mass, vertebral bone size, and stature in whites Ferrari, Serge Livio; Deutsch, Samuel; Choudhury, Urmila; Chevalley, Thierry; ... Antonarakis, Stylianos 2004
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Dominant negative pathogenesis by mutant proinsulin in the Akita diabetic mouse Izumi, Tetsuro; Yokota-Hashimoto, Hiromi; Zhao, Shengli; Wang, Jie; ... Takeuchi, Toshiyuki 2003
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Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome Deutsch, Samuel; Rideau, Alexandra; Bochaton-Piallat, Marie-Luce; Merla, Giuseppe; ... Beris, Photis 2003
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Congenital afibrinogenemia: identification and expression of a missense mutation in FGB impairing fibrinogen secretion Vu, Dung; Bolton-Maggs, P. H.; Parr, J. R.; Morris, Michael Andréw; ... Neerman Arbez, Marguerite 2003
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An arginine to cysteine(252) mutation in insulin receptors from a patient with severe insulin resistance inhibits receptor internalisation but preserves signalling events Hamer, Isabelle; Foti, Michelangelo; Emkey, R; Cordier-Bussat, M; ... Carpentier, J-L 2002
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Hierarchical assembly of the Alu domain of the mammalian signal recognition particle Weichenrieder, O; Stehlin, C; Kapp, U; Birse, D E; ... Cusack, S 2001
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Nomenclature for the description of human sequence variations den Dunnen, J. T.; Antonarakis, Stylianos 2001
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Hypothesis for generation of the unstable Hb Bucuresti (beta 42 Phe-->Leu) mutation Von Planta, Maya; Humbert, James Ronald; Wacker, Pierre; Rimensberger, Peter; ... Beris, Photis 2001
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Both transmembrane domains of SecG contribute to signal sequence recognition by the Escherichia coli protein export machinery Bost, S.; Silva, Filo; Rudaz, C.; Belin, Dominique 2000
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Mutations in GJB6 cause hidrotic ectodermal dysplasia Lamartine, J.; Munhoz Essenfelder, G.; Kibar, Z.; Lanneluc, I.; ... Waksman, G. 2000
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High-throughput mass spectrometric discovery of protein post-translational modifications Wilkins, Marc; Gasteiger, Elisabeth; Gooley, Andrew A; Herbert, Ben R; ... Hochstrasser, Denis 1999
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Different missense mutations in histidine-108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals Ries, S; Büchler, C; Schindler, G; Aslanidis, C; ... Schmitz, G 1998