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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
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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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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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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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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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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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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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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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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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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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