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11 results on '"Schott, Jean-Jacques"'

1. Human genetic structure in Northwest France provides new insights into West European historical demography

Author

Alves, Isabel, Giemza, Joanna, Blum, Michael G. B., Bernhardsson, Carolina, Chatel, Stéphanie, Karakachoff, Matilde, Saint Pierre, Aude, Herzig, Anthony F., Olaso, Robert, Monteil, Martial, Gallien, Véronique, Cabot, Elodie, Svensson, Emma, Bacq, Delphine, Baron, Estelle, Berthelier, Charlotte, Besse, Céline, Blanché, Hélène, Bocher, Ozvan, Boland, Anne, Bonnaud, Stéphanie, Charpentier, Eric, Dandine-Roulland, Claire, Férec, Claude, Fruchet, Christine, Lecointe, Simon, Le Floch, Edith, Ludwig, Thomas E., Marenne, Gaëlle, Meyer, Vincent, Quellery, Elisabeth, Racimo, Fernando, Rouault, Karen, Sandron, Florian, Schott, Jean-Jacques, Velo-Suarez, Lourdes, Violleau, Jade, Willerslev, Eske, Coativy, Yves, Jézéquel, Mael, Le Bris, Daniel, Nicolas, Clément, Pailler, Yvan, Goldberg, Marcel, Zins, Marie, Le Marec, Hervé, Jakobsson, Mattias, Darlu, Pierre, Génin, Emmanuelle, Deleuze, Jean-François, Redon, Richard, and Dina, Christian

Published
2024
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2. TAD boundary deletion causes PITX2-related cardiac electrical and structural defects

Author

Baudic, Manon, Murata, Hiroshige, Bosada, Fernanda M., Melo, Uirá Souto, Aizawa, Takanori, Lindenbaum, Pierre, van der Maarel, Lieve E., Guedon, Amaury, Baron, Estelle, Fremy, Enora, Foucal, Adrien, Ishikawa, Taisuke, Ushinohama, Hiroya, Jurgens, Sean J., Choi, Seung Hoan, Kyndt, Florence, Le Scouarnec, Solena, Wakker, Vincent, Thollet, Aurélie, Rajalu, Annabelle, Takaki, Tadashi, Ohno, Seiko, Shimizu, Wataru, Horie, Minoru, Kimura, Takeshi, Ellinor, Patrick T., Petit, Florence, Dulac, Yves, Bru, Paul, Boland, Anne, Deleuze, Jean-François, Redon, Richard, Le Marec, Hervé, Le Tourneau, Thierry, Gourraud, Jean-Baptiste, Yoshida, Yoshinori, Makita, Naomasa, Vieyres, Claude, Makiyama, Takeru, Mundlos, Stephan, Christoffels, Vincent M., Probst, Vincent, Schott, Jean-Jacques, and Barc, Julien

Published
2024
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3. A Rare Noncoding Enhancer Variant in SCN5A Contributes to the High Prevalence of Brugada Syndrome in Thailand

Author

Walsh, Roddy, Mauleekoonphairoj, John, Mengarelli, Isabella, Bosada, Fernanda M., Verkerk, Arie O., van Duijvenboden, Karel, Poovorawan, Yong, Wongcharoen, Wanwarang, Sutjaporn, Boosamas, Wandee, Pharawee, Chimparlee, Nitinan, Chokesuwattanaskul, Ronpichai, Vongpaisarnsin, Kornkiat, Dangkao, Piyawan, Wu, Cheng-I, Tadros, Rafik, Amin, Ahmad S., Lieve, Krystien V.V., Postema, Pieter G., Kooyman, Maarten, Beekman, Leander, Sahasatas, Dujdao, Amnueypol, Montawatt, Krittayaphong, Rungroj, Prechawat, Somchai, Anannab, Alisara, Makarawate, Pattarapong, Ngarmukos, Tachapong, Phusanti, Keerapa, Veerakul, Gumpanart, Kingsbury, Zoya, Newington, Taksina, Maheswari, Uma, Ross, Mark T., Grace, Andrew, Lambiase, Pier D., Behr, Elijah R., Schott, Jean-Jacques, Redon, Richard, Barc, Julien, Christoffels, Vincent M., Wilde, Arthur A.M., Nademanee, Koonlawee, Bezzina, Connie R., and Khongphatthanayothin, Apichai

Published
2024
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6. Brugada syndrome in Japan and Europe: a genome-wide association study reveals shared genetic architecture and new risk loci

Author

Ishikawa, Taisuke, primary, Masuda, Tatsuo, additional, Hachiya, Tsuyoshi, additional, Dina, Christian, additional, Simonet, Floriane, additional, Nagata, Yuki, additional, Tanck, Michael W T, additional, Sonehara, Kyuto, additional, Glinge, Charlotte, additional, Tadros, Rafik, additional, Khongphatthanayothin, Apichai, additional, Lu, Tzu-Pin, additional, Higuchi, Chihiro, additional, Nakajima, Tadashi, additional, Hayashi, Kenshi, additional, Aizawa, Yoshiyasu, additional, Nakano, Yukiko, additional, Nogami, Akihiko, additional, Morita, Hiroshi, additional, Ohno, Seiko, additional, Aiba, Takeshi, additional, Juárez, Christian Krijger, additional, Mauleekoonphairoj, John, additional, Poovorawan, Yong, additional, Gourraud, Jean-Baptiste, additional, Shimizu, Wataru, additional, Probst, Vincent, additional, Horie, Minoru, additional, Wilde, Arthur A M, additional, Redon, Richard, additional, Juang, Jyh-Ming Jimmy, additional, Nademanee, Koonlawee, additional, Bezzina, Connie R, additional, Barc, Julien, additional, Tanaka, Toshihiro, additional, Okada, Yukinori, additional, Schott, Jean-Jacques, additional, and Makita, Naomasa, additional

Published
2024
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7. Exploring the origins of neurodevelopmental proteasomopathies associated with cardiac malformations: are neural crest cells central to certain pathological mechanisms?

Author

Vignard, Virginie, Baruteau, Alban-Elouen, Toutain, Bérénice, Mercier, Sandra, Isidor, Bertrand, Redon, Richard, Schott, Jean-Jacques, Küry, Sébastien, Bézieau, Stéphane, Monsoro-Burq, Anne H., and Ebstein, Frédéric

Subjects
NEURAL crest, NEURAL development, HUMAN abnormalities, PROTEASOMES, HOMEOSTASIS
Abstract

Neurodevelopmental proteasomopathies constitute a recently defined class of rare Mendelian disorders, arising from genomic alterations in proteasome-related genes. These alterations result in the dysfunction of proteasomes, which are multi-subunit protein complexes essential for maintaining cellular protein homeostasis. The clinical phenotype of these diseases manifests as a syndromic association involving impaired neural development and multisystem abnormalities, notably craniofacial anomalies and malformations of the cardiac outflow tract (OFT). These observations suggest that proteasome loss-offunction variants primarily affect specific embryonic cell types which serve as origins for both craniofacial structures and the conotruncal portion of the heart. In this hypothesis article, we propose that neural crest cells (NCCs), a highly multipotent cell population, which generates craniofacial skeleton, mesenchyme as well as the OFT of the heart, in addition to many other derivatives, would exhibit a distinctive vulnerability to protein homeostasis perturbations. Herein, we introduce the diverse cellular compensatory pathways activated in response to protein homeostasis disruption and explore their potential implications for NCC physiology. Altogether, the paper advocates for investigating proteasome biology within NCCs and their early cranial and cardiac derivatives, offering a rationale for future exploration and laying the initial groundwork for therapeutic considerations. [ABSTRACT FROM AUTHOR]

Published
2024
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11. Isolated prolapse of the posterior mitral valve leaflet: phenotypic refinement, heritability and genetic etiology.

Author

Rimbert A, Duval D, Trujillano D, Kyndt F, Jobbe-Duval A, Lindenbaum P, Tucker N, Lecointe S, Labbé P, Toquet C, Karakachoff M, Roussel JC, Baufreton C, Bruneval P, Cueff C, Donal E, Redon R, Olaso R, Boland A, Deleuze JF, Estivill X, Slaugenhaupt S, Markwald RR, Norris RA, Verhoye JP, Probst V, Hagège A, Levine R, Jeunemaitre X, Marec HL, Capoulade R, Bouatia-Naji N, Dina C, Milan D, Ossowski S, Schott JJ, Mérot J, Scouarnec SL, and Tourneau TL

Abstract

Background: Isolated posterior leaflet mitral valve prolapse (PostMVP), a common form of MVP, often referred as fibroelastic deficiency, is considered a degenerative disease. PostMVP patients are usually asymptomatic and often undiagnosed until chordal rupture. The present study aims to characterize familial PostMVP phenotype and familial recurrence, its genetic background, and the pathophysiological processes involved., Methods: We prospectively enrolled 284 unrelated MVP probands, of whom 178 (63%) had bi-leaflet MVP and 106 had PostMVP (37%). Familial screening within PostMVP patients allowed the identification of 20 families with inherited forms of PostMVP for whom whole genome sequencing was carried out in probands. Functional in vivo and in vitro investigations were performed in zebrafishand in Hek293T cells., Results: In the 20 families with inherited form of PostMVP, 38.8% of relatives had a MVP/prodromal form, mainly of the posterior leaflet, with transmission consistent with an autosomal dominant mode of inheritance. Compared with control relatives, PostMVP family patients have clear posterior leaflet dystrophy on echocardiography. Patients with PostMVP present a burden of rare genetic variants in ARHGAP24. ARHGAP24 encodes the filamin A binding RhoGTPase-activating protein FilGAP and its silencing in zebrafish leads to atrioventricular regurgitation. In vitro functional studies showed that variants of FilGAP, found in PostMVP families, are loss-of-function variants impairing cellular adhesion and mechano-transduction capacities., Conclusions: PostMVP should not only be considered an isolated degenerative pathology but as a specific heritable phenotypic trait with genetic and functional pathophysiological origins. The identification of loss-of-function variants in ARHGAP24 further reinforces the pivotal role of mechano-transduction pathways in the pathogenesis of MVP., Clinical Perspective: Isolated posterior mitral valve prolapse (PostMVP), often called fibro-elastic deficiency MVP, is at least in some patients, a specific inherited phenotypic traitPostMVP has both genetic and functional pathophysiological origins Genetic variants in the ARHGAP24 gene, which encodes for the FilGAP protein, cause progressive Post MVP in familial cases, and impair cell adhesion and mechano-transduction capacities.

Published
2024
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