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KLB, encoding β-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism Xu, Cheng; Messina, Andrea; Somm, Emmanuel; Miraoui, Hichem; ... Pitteloud, Nelly 2017
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Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy French Parkinson's Disease Genetics Study, International Parkinson's Disease Genomics Consortium 2016
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Secretion of VEGF-165 has unique characteristics, including shedding from the plasma membrane Guzmán-Hernández, Maria Luisa; Potter, Gael; Egervari, Kristof Levente; Kiss, Jozsef Zoltan; Balla, Tamas 2014
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Niche anchorage and signaling through membrane-bound Kit-ligand/c-kit receptor are kinase independent and imatinib insensitive Tabone-Eglinger, Séverine; Calderin Sollet, Zuleika; Pinon, Perrine; Aebischer, Nicole; ... Wehrle-Haller, Bernhard 2014
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Molecular chaperone TRAP1 regulates a metabolic switch between mitochondrial respiration and aerobic glycolysis Yoshida, Soichiro; Tsutsumi, Shinji; Muhlebach, Guillaume; Sourbier, Carole; ... Neckers, Leonard 2013
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Membrane shape at the edge of the dynamin helix sets location and duration of the fission reaction Morlot, Sandrine; Galli, Valentina; Klein, Marius; Chiaruttini, Nicolas; ... Roux, Aurélien 2012
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Cyclophilin B interacts with sodium-potassium ATPase and is required for pump activity in proximal tubule cells of the kidney Sune, Guillermo; Sarro, Eduard; Puigmule, Marta; Lopez-Hellin, Joan; ... Meseguer, Anna 2010
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Identification and functional characterization of a novel nonsense mutation in FGA accounting for congenital afibrinogenemia in six Egyptian patients Abdel Wahab, Magy; De Moerloose, Philippe; Fish, R. J.; Neerman Arbez, Marguerite 2010
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Hypodysfibrinogenaemia due to production of mutant fibrinogen alpha-chains lacking fibrinopeptide A and polymerisation knob 'A' Vorjohann, Silja; Fish, Richard; Biron-Andreani, Christine; Nagaswami, Chandrasekaran; ... Neerman Arbez, Marguerite 2010
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Dimerization of Kit-ligand and efficient cell-surface presentation requires a conserved Ser-Gly-Gly-Tyr motif in its transmembrane domain Paulhe, Frédérique; Wehrle-Haller, Monique; Jacquier, M. C.; Imhof, Beat; ... Wehrle-Haller, Bernhard 2009
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Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase Micale, Lucia; Fusco, Carmela; Augello, Bartolomeo; Napolitano, Luisa M. R.; ... Reymond, Alexandre 2008
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Manipulating the quality control pathway in transfected cells: low temperature allows rescue of secretion-defective fibrinogen mutants Vu, Dung; Di Sanza, Corinne; Neerman Arbez, Marguerite 2008
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The p21-activated kinase 3 implicated in mental retardation regulates spine morphogenesis through a Cdc42-dependent pathway Kreis, Patricia; Thevenot, Emmanuel; Rousseau, Veronique; Boda, Bernadett; ... Barnier, J. V. 2007
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Melanomas require HEDGEHOG-GLI signaling regulated by interactions between GLI1 and the RAS-MEK/AKT pathways Stecca, Barbara; Mas, Christophe; Clement, Virginie; Zbinden, Marie; ... Ruiz Altaba, Ariel 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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Binding of PTEN to specific PDZ domains contributes to PTEN protein stability and phosphorylation by microtubule-associated serine/threonine kinases Valiente, Miguel; Andres-Pons, Amparo; Gomar, Beatriz; Torres, Josema; ... Pulido, Rafael 2005
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Hypofibrinogenaemia caused by a novel FGG missense mutation (W253C) in the gamma chain globular domain impairing fibrinogen secretion Vu, Dung; De Moerloose, Philippe; Batorova, A.; Lazur, J.; ... Neerman Arbez, Marguerite 2005
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Quality control of fibrinogen secretion in the molecular pathogenesis of congenital afibrinogenemia Vu, Dung; Di Sanza, Corinne; Caille, Dorothee; De Moerloose, Philippe; ... Neerman Arbez, Marguerite 2005
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A specific endoplasmic reticulum export signal drives transport of stem cell factor (Kitl) to the cell surface Paulhe, Frédérique; Imhof, Beat; Wehrle-Haller, Bernhard 2004
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The junctional adhesion molecule (JAM) family members JAM-2 and JAM-3 associate with the cell polarity protein PAR-3: a possible role for JAMs in endothelial cell polarity Ebnet, Klaus; Aurrand-Lions, Michel; Kuhn, Annegret; Kiefer, Friedemann; ... Vestweber, Dietmar 2003
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