Search Results - "Spraul, Anne"

Targeted pharmacotherapy in progressive familial intrahepatic cholestasis type 2: Evidence for improvement of cholestasis with 4‐phenylbutyrate by Gonzales, Emmanuel, Grosse, Brigitte, Schuller, Brice, Davit‐Spraul, Anne, Conti, Filomena, Guettier, Catherine, Cassio, Doris, Jacquemin, Emmanuel

“…Progressive familial intrahepatic cholestasis type 2 (PFIC2) is a result of mutations in ABCB11 encoding bile salt export pump (BSEP), the canalicular bile…”
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ATP8B1 and ABCB11 analysis in 62 children with normal gamma‐glutamyl transferase progressive familial intrahepatic cholestasis (PFIC): Phenotypic differences between PFIC1 and PFIC2 and natural history by Davit‐Spraul, Anne, Fabre, Monique, Branchereau, Sophie, Baussan, Christiane, Gonzales, Emmanuel, Stieger, Bruno, Bernard, Olivier, Jacquemin, Emmanuel

“…Progressive familial intrahepatic cholestasis (PFIC) types 1 and 2 are characterized by normal serum gamma‐glutamyl transferase (GGT) activity and are due to…”
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A functional classification of ABCB4 variations causing progressive familial intrahepatic cholestasis type 3 by Delaunay, Jean‐Louis, Durand‐Schneider, Anne‐Marie, Dossier, Claire, Falguières, Thomas, Gautherot, Julien, Davit‐Spraul, Anne, Aït‐Slimane, Tounsia, Housset, Chantal, Jacquemin, Emmanuel, Maurice, Michèle

“…Progressive familial intrahepatic cholestasis type 3 is caused by biallelic variations of ABCB4, most often (≥70%) missense. In this study, we examined the…”
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MYO5B mutations cause cholestasis with normal serum gamma‐glutamyl transferase activity in children without microvillous inclusion disease by Gonzales, Emmanuel, Taylor, Sarah A., Davit‐Spraul, Anne, Thébaut, Alice, Thomassin, Nadège, Guettier, Catherine, Whitington, Peter F., Jacquemin, Emmanuel

“…Some patients with microvillus inclusion disease due to myosin 5B (MYO5B) mutations may develop cholestasis characterized by a progressive familial…”
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A Novel CFC1 Mutation in a Family With Heterotaxy and Biliary Atresia Splenic Malformation Syndromes by Gonzales, Emmanuel, Davit-Spraul, Anne, Jacquemin, Emmanuel

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Progressive familial intrahepatic cholestasis by Davit-Spraul, Anne, Gonzales, Emmanuel, Baussan, Christiane, Jacquemin, Emmanuel

“…Progressive familial intrahepatic cholestasis (PFIC) refers to heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation…”
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Pharmacological Premature Termination Codon Readthrough of ABCB11 in Bile Salt Export Pump Deficiency: An In Vitro Study by Amzal, Rachida, Thébaut, Alice, Lapalus, Martine, Almes, Marion, Grosse, Brigitte, Mareux, Elodie, Collado‐Hilly, Mauricette, Davit‐Spraul, Anne, Bidou, Laure, Namy, Olivier, Jacquemin, Emmanuel, Gonzales, Emmanuel

“…Background and Aims Progressive familial intrahepatic cholestasis type 2 (PFIC2) is a severe hepatocellular cholestasis due to biallelic mutations in ABCB11…”
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Failure of cholic acid therapy in a child with a bile acid synthesis defect and harboring plectin mutations by Thébaut, Alice, Aumar, Madeleine, Gardin, Antoine, Almes, Marion, Davit‐Spraul, Anne, Jacquemin, Emmanuel

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Functional rescue of an ABCB11 mutant by ivacaftor: A new targeted pharmacotherapy approach in bile salt export pump deficiency by Mareux, Elodie, Lapalus, Martine, Amzal, Rachida, Almes, Marion, Aït‐Slimane, Tounsia, Delaunay, Jean‐Louis, Adnot, Pauline, Collado‐Hilly, Mauricette, Davit‐Spraul, Anne, Falguières, Thomas, Callebaut, Isabelle, Gonzales, Emmanuel, Jacquemin, Emmanuel

“…Background & Aim The canalicular bile salt export pump (BSEP/ABCB11) of hepatocytes is the main adenosine triphosphate (ATP)‐binding cassette (ABC) transporter…”
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The receptor TGR5 protects the liver from bile acid overload during liver regeneration in mice by Péan, Noémie, Doignon, Isabelle, Garcin, Isabelle, Besnard, Aurore, Julien, Boris, Liu, Bingkaï, Branchereau, Sophie, Spraul, Anne, Guettier, Catherine, Humbert, Lydie, Schoonjans, Kristina, Rainteau, Dominique, Tordjmann, Thierry

“…Many regulatory pathways are involved in liver regeneration after partial hepatectomy (PH) to initiate growth, protect liver cells, and sustain functions of…”
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MYO5B and bile salt export pump contribute to cholestatic liver disorder in microvillous inclusion disease by Girard, Muriel, Lacaille, Florence, Verkarre, Virginie, Mategot, Raphael, Feldmann, Gerard, Grodet, Alain, Sauvat, Frédérique, Irtan, Sabine, Davit‐Spraul, Anne, Jacquemin, Emmanuel, Ruemmele, Frank, Rainteau, Dominique, Goulet, Olivier, Colomb, Virginie, Chardot, Christophe, Henrion‐Caude, Alexandra, Debray, Dominique

“…Microvillous inclusion disease (MVID) is a congenital disorder of the enterocyte related to mutations in the MYO5B gene, leading to intractable diarrhea often…”
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CFC1 Gene Involvement in Biliary Atresia With Polysplenia Syndrome by Davit‐Spraul, Anne, Baussan, Christiane, Hermeziu, Bogdan, Bernard, Olivier, Jacquemin, Emmanuel

“…ABSTRACT The present report describes CFC1 gene analysis in 10 patients with polysplenia syndrome. The heterozygous transition c.433G>A (Ala145Thr) located in…”
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Clinical utility gene card for: progressive familial intrahepatic cholestasis type 2 by Gonzales, Emmanuel, Spraul, Anne, Jacquemin, Emmanuel

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Oral Cholic Acid for Hereditary Defects of Primary Bile Acid Synthesis: A Safe and Effective Long-term Therapy by Gonzales, Emmanuel, Gerhardt, Marie F, Fabre, Monique, Setchell, Kenneth D.R, Davit–Spraul, Anne, Vincent, Isabelle, Heubi, James E, Bernard, Olivier, Jacquemin, Emmanuel

“…Background & Aims Oral bile acid replacement has been shown to be an effective therapy in primary bile acid synthesis defects, but to date there have been no…”
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TGR5-dependent hepatoprotection through the regulation of biliary epithelium barrier function by Merlen, Grégory, Kahale, Nicolas, Ursic-Bedoya, Jose, Bidault-Jourdainne, Valeska, Simerabet, Hayat, Doignon, Isabelle, Tanfin, Zahra, Garcin, Isabelle, Péan, Noémie, Gautherot, Julien, Davit-Spraul, Anne, Guettier, Catherine, Humbert, Lydie, Rainteau, Dominique, Ebnet, Klaus, Ullmer, Christoph, Cassio, Doris, Tordjmann, Thierry

“…We explored the hypothesis that TGR5, the bile acid (BA) G-protein-coupled receptor highly expressed in biliary epithelial cells, protects the liver against BA…”
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Initial presentation, management and follow-up data of 33 treated patients with hereditary tyrosinemia type 1 in the absence of newborn screening by Hajji, Hela, Imbard, Apolline, Spraul, Anne, Taibi, Ludmia, Barbier, Valérie, Habes, Dalila, Brassier, Anaïs, Arnoux, Jean-Baptiste, Bouchereau, Juliette, Pichard, Samia, Sissaoui, Samira, Lacaille, Florence, Girard, Muriel, Debray, Dominique, de Lonlay, Pascale, Schiff, Manuel

“…Hereditary tyrosinemia type 1 (HT1) is a rare autosomal recessive disorder of phenylalanine and tyrosine catabolism due to a deficiency of fumarylacetoacetate…”
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Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis by Almes, Marion, Spraul, Anne, Ruiz, Mathias, Girard, Muriel, Roquelaure, Bertrand, Laborde, Nolwenn, Gottrand, Fréderic, Turquet, Anne, Lamireau, Thierry, Dabadie, Alain, Bonneton, Marjorie, Thebaut, Alice, Rohmer, Babara, Lacaille, Florence, Broué, Pierre, Fabre, Alexandre, Mention-Mulliez, Karine, Bouligand, Jérôme, Jacquemin, Emmanuel, Gonzales, Emmanuel

“…Cholestasis is a frequent and severe condition during childhood. Genetic cholestatic diseases represent up to 25% of pediatric cholestasis. Molecular analysis…”
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Heterozygous FIC1 Deficiency: A New Genetic Predisposition to Transient Neonatal Cholestasis by Jacquemin, Emmanuel, Malan, Valérie, Rio, Marlène, Davit‐Spraul, Anne, Cohen, Joseph, Landrieu, Pierre, Bernard, Olivier

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4 -3-oxo-5β-reductase deficiency: favorable outcome in 16 patients treated with cholic acid by Gardin, Antoine, Ruiz, Mathias, Beime, Jan, Cananzi, Mara, Rathert, Margarete, Rohmer, Barbara, Grabhorn, Enke, Almes, Marion, Logarajah, Veena, Peña-Quintana, Luis, Casswall, Thomas, Darmellah-Remil, Amaria, Reyes-Domínguez, Ana, Barkaoui, Emna, Hierro, Loreto, Baquero-Montoya, Carolina, Baumann, Ulrich, Fischler, Björn, Gonzales, Emmanuel, Davit-Spraul, Anne, Laplanche, Sophie, Jacquemin, Emmanuel

“…Oral cholic acid therapy is an effective therapy in children with primary bile acid synthesis deficiencies. Most reported patients with this treatment have…”
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Increase in liver antioxidant enzyme activities in non-alcoholic fatty liver disease by Perlemuter, Gabriel, Davit-Spraul, Anne, Cosson, Claudine, Conti, Marc, Bigorgne, Amélie, Paradis, Valérie, Corre, Marie-Pierre, Prat, Lydie, Kuoch, Viceth, Basdevant, Arnaud, Pelletier, Gilles, Oppert, Jean-Michel, Buffet, Catherine

“…: Aims: Steatosis may increase oxidative stress, which is counteracted by cellular enzymatic (cytosolic and mitochondrial superoxide dismutases (Cu/Zn‐SOD and…”
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