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2. Pediatric ANCA vasculitis: clinical presentation, treatment, and outcomes in a French retrospective study

Author

Mahi, Sarah-louisa, Bahram, Siamak, Harambat, Jérôme, Allard, Lise, Merlin, Etienne, Belot, Alexandre, Ranchin, Bruno, Tenenbaum, Julie, Magnavacca, Marie, Haumesser, Lucile, Allain-Launay, Emma, Pietrement, Christine, Flodrops, Hugues, Ruin, Mahe, Dossier, Claire, Decramer, Stéphane, Ballot-Schmitt, Claire, Boyer, Olivia Gillion, Seugé, Laure, Ulinski, Tim, and Zaloszyc, Ariane

Published
2023
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4. School level of children carrying a HNF1B variant or a deletion

Author

Laliève, Fanny, Decramer, Stéphane, Heidet, Laurence, Baudouin, Véronique, Lahoche, Annie, Llanas, Brigitte, Cochat, Pierre, Tenenbaum, Julie, Lavocat, Marie-Pierre, Eckart, Philippe, Broux, Françoise, Roussey, Gwenaelle, Cloarec, Sylvie, Vrillon, Isabelle, Dunand, Olivier, Bessenay, Lucie, Tsimaratos, Michel, Nobili, François, Pietrement, Christine, De Parscau, Loïc, Bonneville, Valérie, Rodier, Nicolas, Saint-Martin, Cécile, Chassaing, Nicolas, Michel-Calemard, Laurence, Moriniere, Vincent, Bellanné-Chantelot, Christine, Bahans, Claire, and Guigonis, Vincent

Published
2020
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6. The Constitutively Active V2 Receptor Mutants Conferring NSIAD Are Weakly Sensitive to Agonist and Antagonist Regulation.

Author

Tenenbaum, Julie, Ayoub, Mohammed A., Perkovska, Sanja, Adra-Delenne, Anne-Laure, Mendre, Christiane, Ranchin, Bruno, Bricca, Giamperro, Geelen, Ghislaine, Mouillac, Bernard, Durroux, Thierry, and Morin, Denis

Subjects
*G proteins, *LIGANDS (Biochemistry), *GENETIC mutation, *OSMOREGULATION, *RECEPTOR-ligand complexes, *BIOLUMINESCENCE assay
Abstract

Patients having the nephrogenic syndrome of inappropriate antidiuresis present either the R137C or R137L V2 mutated receptor. While the clinical features have been characterized, the molecular mechanisms of functioning of these two mutants remain elusive. In the present study, we compare the pharmacological properties of R137C and R137L mutants with the wild-type and the V2 D136A receptor, the latter being reported as a highly constitutively active receptor. We have performed binding studies, second messenger measurements and BRET experiments in order to evaluate the affinities of the ligands, their agonist and antagonist properties and the ability of the receptors to recruit b-arrestins, respectively. The R137C and R137L receptors exhibit small constitutive activities regarding the Gs protein activation. In addition, these two mutants induce a constitutive β-arrestin recruitment. Of interest, they also exhibit weak sensitivities to agonist and to inverse agonist in term of Gs protein coupling and β-arrestin recruitment. The small constitutive activities of the mutants and the weak regulation of their functioning by agonist suggest a poor ability of the antidiuretic function to be adapted to the external stimuli, giving to the environmental factors an importance which can explain some of the phenotypic variability in patients having NSIAD. [ABSTRACT FROM AUTHOR]

Published
2009
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