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442 results on '"Dupuis-Girod, Sophie"'

101. Correction: Arterial tortuosity syndrome: 40 new families and literature review

Author

Beyens, Aude, primary, Albuisson, Juliette, additional, Boel, Annekatrien, additional, Al-Essa, Mazen, additional, Al-Manea, Waheed, additional, Bonnet, Damien, additional, Bostan, Ozlem, additional, Boute, Odile, additional, Busa, Tiffany, additional, Canham, Nathalie, additional, Cil, Ergun, additional, Coucke, Paul J., additional, Cousin, Margot A., additional, Dasouki, Majed, additional, De Backer, Julie, additional, De Paepe, Anne, additional, De Schepper, Sofie, additional, De Silva, Deepthi, additional, Devriendt, Koenraad, additional, De Wandele, Inge, additional, Deyle, David R., additional, Dietz, Harry, additional, Dupuis-Girod, Sophie, additional, Fontenot, Eudice, additional, Fischer-Zirnsak, Björn, additional, Gezdirici, Alper, additional, Ghoumid, Jamal, additional, Giuliano, Fabienne, additional, Baena, Neus, additional, Haider, Mohammed Z., additional, Hardin, Joshua S., additional, Jeunemaitre, Xavier, additional, Klee, Eric W., additional, Kornak, Uwe, additional, Landecho, Manuel F., additional, Legrand, Anne, additional, Loeys, Bart, additional, Lyonnet, Stanislas, additional, Michael, Helen, additional, Moceri, Pamela, additional, Mohammed, Shehla, additional, Muiño-Mosquera, Laura, additional, Nampoothiri, Sheela, additional, Pichler, Karin, additional, Prescott, Katrina, additional, Rajeb, Anna, additional, Ramos-Arroyo, Maria, additional, Rossi, Massimiliano, additional, Salih, Mustafa, additional, Seidahmed, Mohammed Z., additional, Schaefer, Elise, additional, Steichen-Gersdorf, Elisabeth, additional, Temel, Sehime, additional, Uysal, Fahrettin, additional, Vanhomwegen, Marine, additional, Van Laer, Lut, additional, Van Maldergem, Lionel, additional, Warner, David, additional, Willaert, Andy, additional, Collins II, Tom R., additional, Taylor, Andrea, additional, Davis, Elaine C., additional, Zarate, Yuri, additional, and Callewaert, Bert, additional

Published
2018
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102. Intra-venous bevacizumab in hereditary hemorrhagic telangiectasia (HHT): A retrospective study of 46 patients

Author

Guilhem, Alexandre, primary, Fargeton, Anne-Emmanuelle, additional, Simon, Anne-Claire, additional, Duffau, Pierre, additional, Harle, Jean-Robert, additional, Lavigne, Christian, additional, Carette, Marie-France, additional, Bletry, Olivier, additional, Kaminsky, Pierre, additional, Leguy, Vanessa, additional, Lerolle, Nathalie, additional, Roux, Dominique, additional, Lambert, Marc, additional, Chinet, Thierry, additional, Bonnet, Delphine, additional, Dupuis-Girod, Sophie, additional, and Rivière, Sophie, additional

Published
2017
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103. The mutational spectrum of human malignant autosomal recessive osteopetrosis

Author

Sobacchi, Cristina, Frattini, Annalisa, Orchard, Paul, Porras, Oscar, Tezcan, Ilhan, Andolina, Marino, Babul-Hirji, Riyana, Baric, Ivo, Canham, Natalie, Chitayat, David, Dupuis-Girod, Sophie, Ellis, Ian, Etzioni, Amos, Fasth, Anders, Fisher, Alain, Gerritsen, Bert, Gulino, Virginia, Horwitz, Edwin, Klamroth, Verena, Lanino, Edoardo, Mirolo, Massimiliano, Musio, Antonio, Matthijs, Gert, Nonomaya, Shigeaki, Notarangelo, Luigi D., Ochs, Hans D., Superti Furga, Andrea, Valiaho, Jouni, van Hove, Johan L.K., Vihinen, Mauno, Vujic, Dragana, Vezzoni, Paolo, Villa, Anna, Sobacchi, Cristina, Frattini, Annalisa, Orchard, Paul, Porras, Oscar, Tezcan, Ilhan, Andolina, Marino, Babul-Hirji, Riyana, Baric, Ivo, Canham, Natalie, Chitayat, David, Dupuis-Girod, Sophie, Ellis, Ian, Etzioni, Amos, Fasth, Anders, Fisher, Alain, Gerritsen, Bert, Gulino, Virginia, Horwitz, Edwin, Klamroth, Verena, Lanino, Edoardo, Mirolo, Massimiliano, Musio, Antonio, Matthijs, Gert, Nonomaya, Shigeaki, Notarangelo, Luigi D., Ochs, Hans D., Superti Furga, Andrea, Valiaho, Jouni, van Hove, Johan L.K., Vihinen, Mauno, Vujic, Dragana, Vezzoni, Paolo, and Villa, Anna

Abstract

Human malignant infantile osteopetrosis (arOP; MIM 259700) is a genetically heterogenous autosomal recessive disorder of bone metabolism, which, if untreated, has a fatal outcome. Our group, as well as others, have recently identified mutations in the ATP6i (TCIRG1) gene, encoding the a3 subunit of the vacuolar proton pump, which mediates the acidification of the bone/osteoclast interface, are responsible for a subset of this condition. By sequencing the ATP6i gene in arOP patients from 44 unrelated families with a worldwide distribution we have now established that ATP6i mutations are responsible for ∼50% of patients affected by this disease. The vast majority of these mutations (40 out of 42 alleles, including seven deletions, two insertions, 10 nonsense substitutions and 21 mutations in splice sites) are predicted to cause severe abnormalities in the protein product and are likely to represent null alleles. In addition, we have also analysed nine unrelated arOP patients from Costa Rica, where this disease is apparently much more frequent than elsewhere. All nine Costa Rican patients bore either or both of two missense mutations (G405R and R444L) in amino acid residues which are evolutionarily conserved from yeast to humans. The identification of ATP6i gene mutations in two families allowed us for the first time to perform prenatal diagnosis: both fetuses were predicted not to be affected and two healthy babies were born. This study contributes to the determination of genetic heterogeneity of arOP and allows further delineation of the other genetic defects causing this severe condition

Published
2017

105. Pulmonary hypertension subtypes associated with hereditary haemorrhagic telangiectasia: Haemodynamic profiles and survival probability

Author

Revuz, Sabine, primary, Decullier, Evelyne, additional, Ginon, Isabelle, additional, Lamblin, Nicolas, additional, Hatron, Pierre-Yves, additional, Kaminsky, Pierre, additional, Carette, Marie-France, additional, Lacombe, Pascal, additional, Simon, Anne-Claire, additional, Rivière, Sophie, additional, Harlé, Jean-Robert, additional, Fraisse, Alain, additional, Lavigne, Christian, additional, Leguy-Seguin, Vanessa, additional, Chaouat, Ari, additional, Khouatra, Chahera, additional, Dupuis-Girod, Sophie, additional, and Hachulla, Eric, additional

Published
2017
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109. International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations

Author

Jondeau, Guillaume, primary, Ropers, Jacques, additional, Regalado, Ellen, additional, Braverman, Alan, additional, Evangelista, Arturo, additional, Teixedo, Guisela, additional, De Backer, Julie, additional, Muiño-Mosquera, Laura, additional, Naudion, Sophie, additional, Zordan, Cecile, additional, Morisaki, Takayuki, additional, Morisaki, Hiroto, additional, Von Kodolitsch, Yskert, additional, Dupuis-Girod, Sophie, additional, Morris, Shaine A., additional, Jeremy, Richmond, additional, Odent, Sylvie, additional, Adès, Leslie C., additional, Bakshi, Madhura, additional, Holman, Katherine, additional, LeMaire, Scott, additional, Milleron, Olivier, additional, Langeois, Maud, additional, Spentchian, Myrtille, additional, Aubart, Melodie, additional, Boileau, Catherine, additional, Pyeritz, Reed, additional, and Milewicz, Dianna M., additional

Published
2016
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112. Effect of Bevacizumab Nasal Spray on Epistaxis Duration in Hereditary Hemorrhagic Telangectasia

Author

Dupuis-Girod, Sophie, primary, Ambrun, Alexis, additional, Decullier, Evelyne, additional, Fargeton, Anne-Emmanuelle, additional, Roux, Adeline, additional, Bréant, Valentine, additional, Colombet, Bettina, additional, Rivière, Sophie, additional, Cartier, César, additional, Lacombe, Pascal, additional, Chinet, Thierry, additional, Blivet, Sandra, additional, Blondel, Jean-Hugues, additional, Gilbert-Dussardier, Brigitte, additional, Dufour, Xavier, additional, Michel, Justin, additional, Harle, Jean-Robert, additional, Dessi, Patrick, additional, and Faure, Frédéric, additional

Published
2016
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113. Homozygous and compound heterozygous mutations in theFBN1gene: unexpected findings in molecular diagnosis of Marfan syndrome

Author

Arnaud, Pauline, primary, Hanna, Nadine, additional, Aubart, Mélodie, additional, Leheup, Bruno, additional, Dupuis-Girod, Sophie, additional, Naudion, Sophie, additional, Lacombe, Didier, additional, Milleron, Olivier, additional, Odent, Sylvie, additional, Faivre, Laurence, additional, Bal, Laurence, additional, Edouard, Thomas, additional, Collod-Beroud, Gwenaëlle, additional, Langeois, Maud, additional, Spentchian, Myrtille, additional, Gouya, Laurent, additional, Jondeau, Guillaume, additional, and Boileau, Catherine, additional

Published
2016
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114. Genetic variation in the functional ENG allele inherited from the non-affected parent associates with presence of pulmonary arteriovenous malformations in hereditary hemorrhagic telangiectasia 1 (HHT1) and may influence expression of PTPN14

Author

Letteboer, Tom G W, Benzinou, Michael, Merrick, Christopher, Quigley, David, Zhau, Kechen, Kim, Il Jin, To, Minh D., Jablons, David, Van Amstel, Johannes Kristian Ploos, Westermann, Cornelius, Giraud, Sophie, Dupuis-Girod, Sophie, Lesca, Gaetan, Berg, Jonathan, Balmain, Allan, Akhurst, Rosemary J., Letteboer, Tom G W, Benzinou, Michael, Merrick, Christopher, Quigley, David, Zhau, Kechen, Kim, Il Jin, To, Minh D., Jablons, David, Van Amstel, Johannes Kristian Ploos, Westermann, Cornelius, Giraud, Sophie, Dupuis-Girod, Sophie, Lesca, Gaetan, Berg, Jonathan, Balmain, Allan, and Akhurst, Rosemary J.

Published
2015

115. Genetic variation in the functional ENG allele inherited from the non-affected parent associates with presence of pulmonary arteriovenous malformations in hereditary hemorrhagic telangiectasia 1 (HHT1) and may influence expression of PTPN14

Author

Genetica Sectie Oncogenetica, Child Health, Genetica Sectie Genoomdiagnostiek, Letteboer, Tom G W, Benzinou, Michael, Merrick, Christopher, Quigley, David, Zhau, Kechen, Kim, Il Jin, To, Minh D., Jablons, David, Van Amstel, Johannes Kristian Ploos, Westermann, Cornelius, Giraud, Sophie, Dupuis-Girod, Sophie, Lesca, Gaetan, Berg, Jonathan, Balmain, Allan, Akhurst, Rosemary J., Genetica Sectie Oncogenetica, Child Health, Genetica Sectie Genoomdiagnostiek, Letteboer, Tom G W, Benzinou, Michael, Merrick, Christopher, Quigley, David, Zhau, Kechen, Kim, Il Jin, To, Minh D., Jablons, David, Van Amstel, Johannes Kristian Ploos, Westermann, Cornelius, Giraud, Sophie, Dupuis-Girod, Sophie, Lesca, Gaetan, Berg, Jonathan, Balmain, Allan, and Akhurst, Rosemary J.

Published
2015

116. Executive summary of the 12th HHT international scientific conference.

Author

Andrejecsk, Jillian W., Hosman, Anna E., Botella, Luisa M., Shovlin, Claire L., Arthur, Helen, Dupuis-Girod, Sophie, Buscarini, Elisabetta, Hughes, Christopher C. W., Lebrin, Franck, Mummery, Christine, Post, Marco C., and Mager, Johannes J.

Abstract

Hereditary hemorrhagic telangiectasia is an autosomal dominant trait affecting approximately 1 in 5000 people. A pathogenic DNA sequence variant in the ENG, ACVRL1) or SMAD4 genes, can be found in the majority of patients. The 12th International Scientific HHT Conference was held on June 8-11, 2017 in Dubrovnik, Croatia to present and discuss the latest scientific achievements, and was attended by over 200 scientific and clinical researchers. In total 174 abstracts were accepted of which 58 were selected for oral presentations. This article covers the basic science and clinical talks, and discussions from three theme-based workshops. We focus on significant emergent themes and unanswered questions. Understanding these topics and answering these questions will help to define the future of HHT research and therapeutics, and ultimately bring us closer to a cure. [ABSTRACT FROM AUTHOR]

Published
2018
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117. 9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping

Author

Nambot, Sophie, primary, Masurel, Alice, additional, El Chehadeh, Salima, additional, Mosca-Boidron, Anne-Laure, additional, Thauvin-Robinet, Christel, additional, Lefebvre, Mathilde, additional, Marle, Nathalie, additional, Thevenon, Julien, additional, Perez-Martin, Stéphanie, additional, Dulieu, Véronique, additional, Huet, Frédéric, additional, Plessis, Ghislaine, additional, Andrieux, Joris, additional, Jouk, Pierre-Simon, additional, Billy-Lopez, Gipsy, additional, Coutton, Charles, additional, Morice-Picard, Fanny, additional, Delrue, Marie-Ange, additional, Heron, Delphine, additional, Rooryck, Caroline, additional, Goldenberg, Alice, additional, Saugier-Veber, Pascale, additional, Joly-Hélas, Géraldine, additional, Calenda, Patricia, additional, Kuentz, Paul, additional, Manouvrier-Hanu, Sylvie, additional, Dupuis-Girod, Sophie, additional, Callier, Patrick, additional, and Faivre, Laurence, additional

Published
2015
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118. 0362 : Marfan syndrome diagnosed during childhood: focus on cardiac events in the French database

Author

Hascoët, Sébastien, primary, Dulac, Yves, additional, Edouard, Thomas, additional, Dupuis-Girod, Sophie, additional, Arnoult, Florence, additional, Blot-Souletie, Nathalie, additional, Chevallier, Bertrand, additional, Leheup, Bruno, additional, Ferrière, Jean, additional, Milleron, Olivier, additional, Stheneur, Chantal, additional, Zordan, Cécile, additional, Philip, Nicole, additional, Odent, Sylvie, additional, Olivier-Faivre, Laurence, additional, Acar, Philippe, additional, and Jondeau, Guillaume, additional

Published
2015
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119. 0365 : Risk markers of cardiac events in patients with Marfan syndrome diagnosed during childhood

Author

Hascoët, Sébastien, primary, Dulac, Yves, additional, Edouard, Thomas, additional, Dupuis-Girod, Sophie, additional, Ferrière, Jean, additional, Leheup, Bruno, additional, Milleron, Olivier, additional, Odent, Sylvie, additional, Olivier-Faivre, Laurence, additional, Stheneur, Chantal, additional, Zordan, Cécile, additional, Chevallier, Bertrand, additional, Philip, Nicole, additional, Ruidavets, Jean-Bernard, additional, Arnoult, Florence, additional, Acar, Philippe, additional, and Jondeau, Guillaume, additional

Published
2015
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120. Genetic variation in the functional ENG allele inherited from the non-affected parent associates with presence of pulmonary arteriovenous malformation in hereditary hemorrhagic telangiectasia 1 (HHT1) and may influence expression of PTPN14

Author

Letteboer, Tom G. W., primary, Benzinou, Michael, additional, Merrick, Christopher B., additional, Quigley, David A., additional, Zhau, Kechen, additional, Kim, Il-Jin, additional, To, Minh D., additional, Jablons, David M., additional, van Amstel, Johannes K. P., additional, Westermann, Cornelius J. J., additional, Giraud, Sophie, additional, Dupuis-Girod, Sophie, additional, Lesca, Gaetan, additional, Berg, Jonathan H., additional, Balmain, Allan, additional, and Akhurst, Rosemary J., additional

Published
2015
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121. Dose – response relationship of bevacizumab in hereditary hemorrhagic telangiectasia

Author

Azzopardi, Nicolas, primary, Dupuis-Girod, Sophie, additional, Ternant, David, additional, Fargeton, Anne-Emmanuelle, additional, Ginon, Isabelle, additional, Faure, Frédéric, additional, Decullier, Evelyne, additional, Roux, Adeline, additional, Carette, Marie-France, additional, Gilbert-Dussardier, Brigitte, additional, Hatron, Pierre-Yves, additional, Lacombe, Pascal, additional, Leguy-Seguin, Vanessa, additional, Rivière, Sophie, additional, Corre, Romain, additional, Bailly, Sabine, additional, and Paintaud, Gilles, additional

Published
2015
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122. MFAP5 Loss-of-Function Mutations Underscore the Involvement of Matrix Alteration in the Pathogenesis of Familial Thoracic Aortic Aneurysms and Dissections

Author

Barbier, Mathieu, primary, Gross, Marie-Sylvie, additional, Aubart, Mélodie, additional, Hanna, Nadine, additional, Kessler, Ketty, additional, Guo, Dong-Chuan, additional, Tosolini, Laurent, additional, Ho-Tin-Noe, Benoit, additional, Regalado, Ellen, additional, Varret, Mathilde, additional, Abifadel, Marianne, additional, Milleron, Olivier, additional, Odent, Sylvie, additional, Dupuis-Girod, Sophie, additional, Faivre, Laurence, additional, Edouard, Thomas, additional, Dulac, Yves, additional, Busa, Tiffany, additional, Gouya, Laurent, additional, Milewicz, Dianna M., additional, Jondeau, Guillaume, additional, and Boileau, Catherine, additional

Published
2014
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123. Successful allogeneic hemopoietic stem cell transplantation in a child who had anhidrotic ectodermal dysplasia with immunodeficiency

Author

Dupuis-Girod, Sophie, Cancrini, Caterina, Le Deist, Francoise, Palma, Paolo, Bodemer, Christine, Puel, Anne, Livadiotti, Susanna, Picard, Capucine, Bossuyt, Xavier, Rossi, Paolo, Fischer, Alain, and Casanova, Jean-Laurent

Subjects
Ectodermal dysplasia -- Risk factors, Ectodermal dysplasia -- Care and treatment, Stem cells -- Transplantation, Stem cells -- Analysis
Abstract

Anhidrotic ectodermal dysplasia with immunodeficiency is associated with multiple infections and a poor clinical outcome. Hypomorphic mutations in nuclear factor KB essential modulator (NEMO)/I[kappa]B kinase complex and a hypermorphic mutation in inhibitor ff of nuclear factor [kappa]B (I[kappa]B[alpha]) both result in impaired nuclear factor [kappa]B activation and are associated with X-recessive and autosomal-dominant forms of anhidrotic ectodermal dysplasia with immunodeficiency, respectively. Autosomal-dominant anhidrotic ectodermal dysplasia with immunodeficiency is also associated with a severe T-cell phenotype. It is not known whether hematopoietic stem cell transplantation can cure immune deficiency in children with anhidrotic ectodermal dysplasia with immunodeficiency. A boy with autosomal-dominant anhidrotic ectodermal dysplasia with immunodeficiency and a severe T-cell immunodeficiency underwent transplantation at 1 year of age with haploidentical T-cell--depleted bone marrow after myeloablative conditioning. Engraftment occurred, with full hematopoietic chimerism. Seven years after transplantation, clinical outcome is favorable, with normal T-cell development. As expected, the developmental features of the anhidrotic ectodermal dysplasia syndrome have appeared and persisted. This is the first report of successful hematopoietic stem cell transplantation in a child with anhidrotic ectodermal dysplasia with immunodeficiency. Hematopoietic stern cell transplantation is well tolerated and efficiently cures the profound immunodeficiency associated with autosomal-dominant anhidrotic ectodermal dysplasia with immunodeficiency. KEY WORDS. anhidrotic ectodermal dysplasia, hematopoietic stem cell transplantation, NF-KB, primary immunodeficiency. PEDIATRICS 2006;118:e205-e211. URL: www.pediatrics.org/cgi/doi/10.1542/peds.2005-2661

Published
2006

124. Bone morphogenetic protein-9 is a circulating vascular quiescence factor

Author

David, Laurent, Mallet, Christine, Keramidas, Michelle, Lamandé, Noël, Gasc, Jean-Marie, Dupuis-Girod, Sophie, Plauchu, Henri, Feige, Jean-Jacques, Bailly, Sabine, Angiogenèse hormono-regulée et angiogenèse tumorale (LAPV), Université Joseph Fourier - Grenoble 1 (UJF)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Angiogénèse embryonnaire et pathologique, Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre interdisciplinaire de recherche en biologie (CIRB), Labex MemoLife, École normale supérieure - Paris (ENS Paris), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Collège de France (CdF (institution))-Ecole Superieure de Physique et de Chimie Industrielles de la Ville de Paris (ESPCI Paris), Université Paris sciences et lettres (PSL)-École normale supérieure - Paris (ENS Paris), Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Labex MemoLife, Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de génétique clinique, Hospices Civils de Lyon (HCL)-Hôpital Hôtel Dieu, and INSERM, CEA, GEFLUC Dauphiné-Savoie, ARC, AMRO

Subjects
angiogenesis, ALK1, [SDV.BC]Life Sciences [q-bio]/Cellular Biology, BMP9, HHT
Abstract

International audience; Angiogenesis is a complex process, requiring a finely tuned balance between numerous stimulatory and inhibitory signals. ALK1 (activin receptor like-kinase 1) is an endothelial-specific type 1 receptor of the transforming growth factor-beta receptor family. Heterozygotes with mutations in the ALK1 gene develop hereditary hemorrhagic telangiectasia type 2 (HHT2). Recently, we reported that bone morphogenetic protein (BMP)9 and BMP10 are specific ligands for ALK1 that potently inhibit microvascular endothelial cell migration and growth. These data lead us to suggest that these factors may play a role in the control of vascular quiescence. To test this hypothesis, we checked their presence in human serum. We found that human serum induced Smad1/5 phosphorylation. To identify the active factor, we tested neutralizing antibodies against BMP members and found that only the anti-BMP9 inhibited serum-induced Smad1/5 phosphorylation. The concentration of circulating BMP9 was found to vary between 2 and 12 ng/mL in sera and plasma from healthy humans, a value well above its EC(50) (50 pg/mL). These data indicated that BMP9 is circulating at a biologically active concentration. We then tested the effects of BMP9 in 2 in vivo angiogenic assays. We found that BMP9 strongly inhibited sprouting angiogenesis in the mouse sponge angiogenesis assay and that BMP9 could inhibit blood circulation in the chicken chorioallantoic membrane assay. Taken together, our results demonstrate that BMP9, circulating under a biologically active form, is a potent antiangiogenic factor that is likely to play a physiological role in the control of adult blood vessel quiescence.

Published
2008

125. ELLIPSE Study

Author

Dupuis-Girod, Sophie, primary, Ambrun, Alexis, additional, Decullier, Evelyne, additional, Samson, Géraldine, additional, Roux, Adeline, additional, Fargeton, Anne-Emmanuelle, additional, Rioufol, Catherine, additional, Schwiertz, Verane, additional, Disant, François, additional, Chapuis, François, additional, Donazzolo, Yves, additional, Paintaud, Gilles, additional, Edery, Patrick, additional, and Faure, Frederic, additional

Published
2014
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127. Mouse and human strategies identify PTPN14 as a modifier of angiogenesis and hereditary haemorrhagic telangiectasia.

Author

Clermont, Frédéric, Benzinou, Michael, Letteboer, Tom G W, Kim, Jai-Hyun, Espejel, Silvia, Harradine, Kelly A, Arbelaez, Juan, Luu, Minh Thu, Roy, Ritu, Quigley, David, Higgins, Mamie Nakayama, Zaid, Musa, Aouizerat, Bradley E, van Amstel, Johannes Kristian Ploos, Giraud, Sophie, Dupuis-Girod, Sophie, Lesca, Gaetan, Plauchu, Henri, Hughes, Christopher C W, Westermann, Cornelius J J, Akhurst, Rosemary J, Clermont, Frédéric, Benzinou, Michael, Letteboer, Tom G W, Kim, Jai-Hyun, Espejel, Silvia, Harradine, Kelly A, Arbelaez, Juan, Luu, Minh Thu, Roy, Ritu, Quigley, David, Higgins, Mamie Nakayama, Zaid, Musa, Aouizerat, Bradley E, van Amstel, Johannes Kristian Ploos, Giraud, Sophie, Dupuis-Girod, Sophie, Lesca, Gaetan, Plauchu, Henri, Hughes, Christopher C W, Westermann, Cornelius J J, and Akhurst, Rosemary J

Abstract

Hereditary haemorrhagic telangiectasia (HTT) is a vascular dysplasia syndrome caused by mutations in transforming growth factor-β/bone morphogenetic protein pathway genes, ENG and ACVRL1. HTT shows considerable variation in clinical manifestations, suggesting environmental and/or genetic modifier effects. Strain-specific penetrance of the vascular phenotypes of Eng(+/-) and Tgfb1(-/-) mice provides further support for genetic modification of transforming growth factor-β pathway deficits. We previously identified variant genomic loci, including Tgfbm2, which suppress prenatal vascular lethality of Tgfb1(-/-) mice. Here we show that human polymorphic variants of PTPN14 within the orthologous TGFBM2 locus influence clinical severity of HTT, as assessed by development of pulmonary arteriovenous malformation. We also show that PTPN14, ACVRL1 and EFNB2, encoding EphrinB2, show interdependent expression in primary arterial endothelial cells in vitro. This suggests an involvement of PTPN14 in angiogenesis and/or arteriovenous fate, acting via EphrinB2 and ACVRL1/activin receptor-like kinase 1. These findings contribute to a deeper understanding of the molecular pathology of HTT in particular and to angiogenesis in general., Journal Article, Research Support, N.I.H. Extramural, Research Support, Non-U.S. Gov't, info:eu-repo/semantics/published

Published
2012

128. Erratum: Mouse and human strategies identify PTPN14 as a modifier of angiogenesis and hereditary haemorrhagic telangiectasia.

Author

Clermont, Frédéric, Benzinou, Michael, Letteboer, Tom G W, Kim, Jai-Hyun, Espejel, Silvia, Harradine, Kelly A, Arbelaez, Juan, Luu, Minh Thu, Roy, Ritu, Quigley, David, Higgins, Mamie Nakayama, Zaid, Musa, Aouizerat, Bradley E, van Amstel, Johannes Kristian Ploos, Giraud, Sophie, Dupuis-Girod, Sophie, Lesca, Gaetan, Plauchu, Henri, Hughes, Christopher C W, Westermann, Cornelius J J, Akhurst, Rosemary J, Clermont, Frédéric, Benzinou, Michael, Letteboer, Tom G W, Kim, Jai-Hyun, Espejel, Silvia, Harradine, Kelly A, Arbelaez, Juan, Luu, Minh Thu, Roy, Ritu, Quigley, David, Higgins, Mamie Nakayama, Zaid, Musa, Aouizerat, Bradley E, van Amstel, Johannes Kristian Ploos, Giraud, Sophie, Dupuis-Girod, Sophie, Lesca, Gaetan, Plauchu, Henri, Hughes, Christopher C W, Westermann, Cornelius J J, and Akhurst, Rosemary J

Abstract

Journal Article, info:eu-repo/semantics/published

Published
2012

131. Erratum: Mouse and human strategies identify PTPN14 as a modifier of angiogenesis and hereditary haemorrhagic telangiectasia

Author

Benzinou, Michael, primary, Clermont, Frederic F., additional, Letteboer, Tom G W., additional, Kim, Jai-hyun, additional, Espejel, Silvia, additional, Harradine, Kelly A., additional, Arbelaez, Juan, additional, Luu, Minh Thu, additional, Roy, Ritu, additional, Quigley, David, additional, Higgins, Mamie Nakayama, additional, Zaid, Musa, additional, Aouizerat, Bradley E., additional, van Amstel, Johannes Kristian Ploos, additional, Giraud, Sophie, additional, Dupuis-Girod, Sophie, additional, Lesca, Gaetan, additional, Plauchu, Henri, additional, Hughes, Christopher C W., additional, Westermann, Cornelius J.J., additional, and Akhurst, Rosemary J., additional

Published
2012
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133. Mouse and human strategies identify PTPN14 as a modifier of angiogenesis and hereditary haemorrhagic telangiectasia

Author

Benzinou, Michael, primary, Clermont, Frederic F., additional, Letteboer, Tom G.W., additional, Kim, Jai-hyun, additional, Espejel, Silvia, additional, Harradine, Kelly A., additional, Arbelaez, Juan, additional, Luu, Minh Thu, additional, Roy, Ritu, additional, Quigley, David, additional, Higgins, Mamie Nakayama, additional, Zaid, Musa, additional, Aouizerat, Bradley E., additional, van Amstel, Johannes Kristian Ploos, additional, Giraud, Sophie, additional, Dupuis-Girod, Sophie, additional, Lesca, Gaetan, additional, Plauchu, Henri, additional, Hughes, Christopher C.W., additional, Westermann, Cornelius J.J., additional, and Akhurst, Rosemary J., additional

Published
2012
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134. Homozygous and compound heterozygous mutations in the FBN1gene: unexpected findings in molecular diagnosis of Marfan syndrome

Author

Arnaud, Pauline, Hanna, Nadine, Aubart, Mélodie, Leheup, Bruno, Dupuis-Girod, Sophie, Naudion, Sophie, Lacombe, Didier, Milleron, Olivier, Odent, Sylvie, Faivre, Laurence, Bal, Laurence, Edouard, Thomas, Collod-Beroud, Gwenaelle, Langeois, Maud, Spentchian, Myrtille, Gouya, Laurent, Jondeau, Guillaume, and Boileau, Catherine

Abstract

BackgroundMarfan syndrome (MFS) is an autosomal-dominant connective tissue disorder usually associated with heterozygous mutations in the gene encoding fibrillin-1 (FBN1). Homozygous and compound heterozygous cases are rare events and have been associated with a clinical severe presentation.ObjectivesReport unexpected findings of homozygosity and compound heterozygosity in the course of molecular diagnosis of heterozygous MFS and compare the findings with published cases.Methods and resultsIn the context of molecular diagnosis of heterozygous MFS, systematic sequencing of the FBN1gene was performed in 2500 probands referred nationwide. 1400 probands carried a heterozygous mutation in this gene. Unexpectedly, among them four homozygous cases (0.29%) and five compound heterozygous cases (0.36%) were identified (total: 0.64%). Interestingly, none of these cases carried two premature termination codon mutations in the FBN1gene. Clinical features for these carriers and their families were gathered and compared. There was a large spectrum of severity of the disease in probands carrying two mutated FBN1alleles, but none of them presented extremely severe manifestations of MFS in any system compared with carriers of only one mutated FBN1allele. This observation is not in line with the severe clinical features reported in the literature for four homozygous and three compound heterozygous probands.ConclusionHomozygotes and compound heterozygotes were unexpectedly identified in the course of molecular diagnosis of MFS. Contrary to previous reports, the presence of two mutated alleles was not associated with severe forms of MFS. Although homozygosity and compound heterozygosity are rarely found in molecular diagnosis, they should not be overlooked, especially among consanguineous families. However, no predictive evaluation of severity should be provided.

Published
2017
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135. Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum

Author

Whalen, Sandra, primary, Héron, Delphine, additional, Gaillon, Thierry, additional, Moldovan, Oana, additional, Rossi, Massimiliano, additional, Devillard, Françoise, additional, Giuliano, Fabienne, additional, Soares, Gabriela, additional, Mathieu-Dramard, Michelle, additional, Afenjar, Alexandra, additional, Charles, Perrine, additional, Mignot, Cyril, additional, Burglen, Lydie, additional, Van Maldergem, Lionel, additional, Piard, Juliette, additional, Aftimos, Salim, additional, Mancini, Grazia, additional, Dias, Patricia, additional, Philip, Nicole, additional, Goldenberg, Alice, additional, Le Merrer, Martine, additional, Rio, Marlène, additional, Josifova, Dragana, additional, Van Hagen, Johanna Maria, additional, Lacombe, Didier, additional, Edery, Patrick, additional, Dupuis-Girod, Sophie, additional, Putoux, Audrey, additional, Sanlaville, Damien, additional, Fischer, Richard, additional, Drévillon, Loïc, additional, Briand-Suleau, Audrey, additional, Metay, Corinne, additional, Goossens, Michel, additional, Amiel, Jeanne, additional, Jacquette, Aurelia, additional, and Giurgea, Irina, additional

Published
2011
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138. High diagnostic and clinical impact of small-bowel capsule endoscopy in patients with hereditary hemorrhagic telangiectasia with overt digestive bleeding and/or severe anemia

Author

Grève, Emilie, primary, Moussata, Driffa, additional, Gaudin, Jean Louis, additional, Lapalus, Marie-Georges, additional, Giraud, Sophie, additional, Dupuis-Girod, Sophie, additional, Calender, Alain, additional, Plauchu, Henri, additional, and Saurin, Jean-Christophe, additional

Published
2010
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139. Differential susceptibility of adenovirus clinical isolates to cidofovir and ribavirin is not related to species alone

Author

Morfin, Florence, primary, Dupuis-Girod, Sophie, additional, Frobert, Emilie, additional, Mundweiler, Stéphanie, additional, Carrington, David, additional, Sedlacek, Petr, additional, Bierings, Marc, additional, Cetkovsky, Petr, additional, Kroes, Aloys CM, additional, van Tol, Maarten JD, additional, and Thouvenot, Danielle, additional

Published
2009
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142. NEMO mutations in 2 unrelated boys with severe infections and conical teeth

Author

Ku, Cheng-Lung, Dupuis-Girod, Sophie, Dittrich, Anna-Maria, Bustamante, Jacinta, Santos, Orchidee Filipe, Schulze, Ilka, Bertrand, Yves, Couly, Gerard, Bodemer, Christine, Xavier, Bossuyt, Picard, Capucine, and Jean-Laurent, Casanova

Subjects
Ectodermal dysplasia -- Genetic aspects
Abstract

X-linked recessive anhidrotic ectodermal dysplasia with immunodeficiency is a developmental and immunologic disorder caused by mutations in nuclear factor-[kappa]B essential modulator (NEMO), which is essential for nuclear factor-[kappa]B activation. Early in life, affected boys present a typical appearance, with hypotrichosis or atrichosis, hypohidrosis or anhidrosis, and hypodontia or anodontia with conical incisors. They are also susceptible to various microorganisms, mostly pyogenic bacteria and mycobacteria. Here we report 2 unrelated boys, aged 6 and 11 years, who have novel mutations in NEMO and present conical incisors and hypodontia as their sole and long-unrecognized developmental anomaly. One child had isolated recurrent pneumococcal disease, whereas the other had multiple infections. Our observations indicate that conical incisors should prompt the search for NEMO mutations in boys with unusual infectious diseases. URL: www.pediatrics.org/cgi/doi/ 10.1542/peds.2004-1754; NEMO, ectodermal dysplasia, conical teeth, immunodeflciency, NF-[kappa]B.

Published
2005

144. In Vitro Susceptibility of Adenovirus to Antiviral Drugs is Species-Dependent

Author

Morfin, Florence, primary, Dupuis-Girod, Sophie, additional, Mundweiler, Stéphanie, additional, Falcon, Delphine, additional, Carrington, David, additional, Sedlacek, Petr, additional, Bierings, Marc, additional, Cetkovsky, Petr, additional, Kroes, Aloys CM, additional, van Tol, Maarten JD, additional, and Thouvenot, Danielle, additional

Published
2005
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145. Successful match-unrelated donor bone marrow transplantation for congenital erythropoietic porphyria (Günther disease)

Author

Dupuis-Girod, Sophie, primary, Akkari, Véronique, additional, Ged, Cécile, additional, Galambrun, Claire, additional, Kebaïli, Kamila, additional, Deybach, Jean-Charles, additional, Claudy, Alain, additional, Geburher, Lucette, additional, Philippe, Noël, additional, de Verneuil, Hubert, additional, and Bertrand, Yves, additional

Published
2004
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146. Autoimmunity in Wiskott-Aldrich syndrome: risk factors, clinical features, and outcome in a single-center cohort of 55 patients

Author

Dupuis-Girod, Sophie, Medioni, Jacques, Haddad, Elie, Quartier, Pierre, Cavazzana-Calvo, Marina, Le Deist, Francoise, de Saint Basile, Genevieve, Delaunay, Jean, Schwarz, Klaus, Casanova, Jean-Laurent, Blanche, Stephane, and Fischer, Alain

Subjects
Wiskott-Aldrich syndrome -- Care and treatment, Wiskott-Aldrich syndrome -- Complications
Abstract

Objectives. To evaluate the occurrence of autoimmune and inflammatory complications in Wiskott-Aldrich syndrome (WAS) and to determine risk factors and the prognosis of such complications with the aim of improving the definition of treatment options. Methods. We reviewed the records of 55 patients with WAS evaluated at Necker-Enfants Malades Hospital (Paris) from 1980 to 2000. Results. Forty patients (72%) had at least 1 autoimmune or inflammatory complication. Autoimmune hemolytic anemia was detected in 20 cases (36%); in all cases, onset occurred before the age of 5 years. Other complications included neutropenia (25%), arthritis (29%), skin vasculitis (22%), cerebral vasculitis (7%), inflammatory bowel disease (9%), and renal disease (3%). The median survival of the entire population was 14.5 years. Two autoimmune complications and 1 biological factor were predictive of a poor prognosis in this population: autoimmune hemolytic anemia, severe thrombocytopenia recurring after splenectomy, and high serum immunoglobulin M (IgM) levels before splenectomy. Autoimmune hemolytic anemia was significantly more observed in patients with high serum IgM level. Conclusion. High serum IgM concentration before splenectomy was identified as a risk factor for autoimmune hemolytic anemia; however, it must be confirmed. Autoimmune hemolytic anemia and severe thrombocytopenia recurring after splenectomy were 2 indicators of a poor prognosis. Those results suggest that patients with WAS and IgM levels more than mean + 2 standard deviations before splenectomy should be placed under strict surveillance. Furthermore, severe autoimmune complications should lead, as early as possible, to hematopoietic stem cell transplantation using the best available donor. Pediatrics 2003;111:e622-e627. URL: httpdlwww.pediatrics.org/cgi/content/full/111/5/e622; arthritis, autoimmunity, autoimmune hemolytic anemia, children, hematopoietic stem cell transplantation, immunodeficiency, thrombocytopenia, vasculitis, Wiskott-Aldrich syndrome.

Published
2003

147. Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother

Author

Dupuis-Girod, Sophie, Corradini, Nadege, Hadj-Rabia, Smail, Fournet, Jean-Christophe, Faivre, Laurence, Le Deist, Francoise, Durand, Philippe, Doffinger, Rainer, Smahi, Asma, Israel, Alain, Courtois, Gilles, Brousse, Nicole, Blanche, Stephane, Munnich, Arnold, Fischer, Alain, Casanova, Jean-Laurent, and Bodemer, Christine

Subjects
Pigmentation disorders -- Case studies, Osteopetrosis -- Case studies, Lymphedema -- Case studies, Immunological deficiency syndromes -- Case studies
Abstract

A child with X-linked osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency (OL-EDA-ID) was recently reported. We report the clinical features of a second boy with this novel syndrome and his mother, who presented with signs of incontinentia pigmenti (IP). The child had mild osteopetrosis without neurosensory complications, unilateral lymphedema of the left leg, and characteristic features of anhidrotic ectodermal dysplasia with sparse hair, facial dysmorphy, delayed eruption of teeth, and sweat gland abnormalities. He died at 18 months of severe immunodeficiency with multiple infections caused by Gram-negative (Salmonella enteritidis) and Gram-positive (Streptococcus pneumoniae) bacteria, nontuberculous mycobacteria (Mycobacterium kansasii), and fungi (Pneumocystis carinii). His 30-year-old mother's medical history, together with residual cutaneous lesions, was highly suggestive of IP without neurologic impairment. In this patient with OLEDA-ID, we detected the same NF-[kappa]B essential modulator stop codon hypomorphic mutation identified in the previous patient. The occurrence of the same clinical features in 2 unrelated patients with the same genotype demonstrates that OL-EDA-ID is a genuine clinical syndrome. The clinical and biological descriptions of the proband and his mother further corroborate the relationship between IP and EDA. Both syndromes are allelic and are associated with mutations in NF-[kappa]B essential modulator, with a genotype-phenotype correlation in hemizygous males. In contrast, loss-of-function mutations and hypomorphic mutations may cause IP in females. Pediatrics 2002;109(6). URL: http://www. pediatrics.org/cgi/content/full/109/6/e97; children, osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, incontinentia pigmenti, immunodeficiency, bone marrow transplantation.

Published
2002

148. X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-κB signaling

Author

Döffinger, Rainer, primary, Smahi, Asma, additional, Bessia, Christine, additional, Geissmann, Frédéric, additional, Feinberg, Jacqueline, additional, Durandy, Anne, additional, Bodemer, Christine, additional, Kenwrick, Sue, additional, Dupuis-Girod, Sophie, additional, Blanche, Stéphane, additional, Wood, Philip, additional, Rabia, Smail Hadj, additional, Headon, Denis J., additional, Overbeek, Paul A., additional, Le Deist, Françoise, additional, Holland, Steven M., additional, Belani, Kiran, additional, Kumararatne, Dinakantha S., additional, Fischer, Alain, additional, Shapiro, Ralph, additional, Conley, Mary Ellen, additional, Reimund, Eric, additional, Kalhoff, Hermann, additional, Abinun, Mario, additional, Munnich, Arnold, additional, Israël, Alain, additional, Courtois, Gilles, additional, and Casanova, Jean-Laurent, additional

Published
2001
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149. 9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1Band ENGgenes assessed using reverse phenotyping

Author

Nambot, Sophie, Masurel, Alice, El Chehadeh, Salima, Mosca-Boidron, Anne-Laure, Thauvin-Robinet, Christel, Lefebvre, Mathilde, Marle, Nathalie, Thevenon, Julien, Perez-Martin, Stéphanie, Dulieu, Véronique, Huet, Frédéric, Plessis, Ghislaine, Andrieux, Joris, Jouk, Pierre-Simon, Billy-Lopez, Gipsy, Coutton, Charles, Morice-Picard, Fanny, Delrue, Marie-Ange, Heron, Delphine, Rooryck, Caroline, Goldenberg, Alice, Saugier-Veber, Pascale, Joly-Hélas, Géraldine, Calenda, Patricia, Kuentz, Paul, Manouvrier-Hanu, Sylvie, Dupuis-Girod, Sophie, Callier, Patrick, and Faivre, Laurence

Abstract

The increasing use of array-CGH in malformation syndromes with intellectual disability could lead to the description of new contiguous gene syndrome by the analysis of the gene content of the microdeletion and reverse phenotyping. Thanks to a national and international call for collaboration by Achropuce and Decipher, we recruited four patients carrying de novooverlapping deletions of chromosome 9q33.3q34.11, including the STXBP1, the LMX1Band the ENGgenes. We restrained the selection to these three genes because the effects of their haploinsufficency are well described in the literature and easily recognizable clinically. All deletions were detected by array-CGH and confirmed by FISH. The patients display common clinical features, including intellectual disability with epilepsy, owing to the presence of STXBP1within the deletion, nail dysplasia and bone malformations, in particular patellar abnormalities attributed to LMX1Bdeletion, epistaxis and cutaneous–mucous telangiectasias explained by ENGhaploinsufficiency and common facial dysmorphism. This systematic analysis of the genes comprised in the deletion allowed us to identify genes whose haploinsufficiency is expected to lead to disease manifestations and complications that require personalized follow-up, in particular for renal, eye, ear, vascular and neurological manifestations.

Published
2016
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150. Genetic variants of Adam17 differentially regulate TGFβ signaling to modify vascular pathology in mice and humans.

Author

Kyoko Kawasaki, Freimuth, Julia, Meyer, Dominique S., Lee, Marie M., Akiko Tochimoto-Okamoto, Benzinou, Michael, Clermont, Frederic F., Wu, Gloria, Roy, Ritu, Letteboer, Tom G. W., van Amstel, Johannes Kristian Ploos, Giraud, Sophie, Dupuis-Girod, Sophie, Lesca, Gaeten, Westermann, Cornelius J. J., Coffey Jr., Robert J., and Akhurst, Rosemary J.

Subjects
HAPLOTYPES, GERM cells, PROGENITOR cells, HUMAN genetic variation, MICE genetics, GENETIC polymorphisms, NEOVASCULARIZATION
Abstract

Outcome of TGFβ1 signaling is context dependent and differs between individuals due to germ-line genetic variation. To explore innate genetic variants that determine differential outcome of reduced TGFβ1 signaling, we dissected the modifier locus Tgfbm3, on mouse chromosome 12. On a NIH/OlaHsd genetic background, the Tgfbm3bC57 haplotype suppresses prenatal lethality of Tgfb1-/- embryos and enhances nuclear accumulation of mothers against decapentaplegic homolog 2 (Smad2) in embryonic cells. Amino acid polymorphisms within a disintegrin and metalloprotease 17 (Adam17) can account, at least in part, for this Tgfbm3b effect. ADAM17 is known to down-regulate Smad2 signaling by shedding the extracellular domain of TGFβRI, and we show that the C57 variant is hypomorphic for down-regulation of Smad2/3-driven transcription. Genetic variation at Tgfbm3 or pharmacological inhibition of ADAM17, modulates postnatal circulating endothelial progenitor cell (CEPC) numbers via effects on TGFβRI activity. Because CEPC numbers correlate with angiogenic potential, this suggests that variant Adam17 is an innate modifier of adult angiogenesis, acting through TGFβR1. To determine whether human ADAM17 is also polymorphic and interacts with TGFβ signaling in human vascular disease, we investigated hereditary hemorrhagic telangiectasia (HHT), which is caused by mutations in TGFβ/bone morphogenetic protein receptor genes, ENG, encoding endoglin (HHT1), or ACVRL1 encoding ALK1 (HHT2), and considered a disease of excessive abnormal angiogenesis. HHT manifests highly variable incidence and severity of clinical features, ranging from small mucocutaneous telangiectases to life-threatening visceral and cerebral arteriovenous malformations (AVMs). We show that ADAM17 SNPs associate with the presence of pulmonary AVM in HHT1 but not HHT2, indicating genetic variation in ADAM17 can potentiate a TGFβ-regulated vascular disease. [ABSTRACT FROM AUTHOR]

Published
2014
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