Zobrazeno 1 - 10
of 79
pro vyhledávání: '"Isabelle Maystadt"'
Autor:
Frédéric Tran Mau-Them, Alexis Overs, Ange-Line Bruel, Romain Duquet, Mylene Thareau, Anne-Sophie Denommé-Pichon, Antonio Vitobello, Arthur Sorlin, Hana Safraou, Sophie Nambot, Julian Delanne, Sebastien Moutton, Caroline Racine, Camille Engel, Melchior De Giraud d’Agay, Daphne Lehalle, Alice Goldenberg, Marjolaine Willems, Christine Coubes, David Genevieve, Alain Verloes, Yline Capri, Laurence Perrin, Marie-Line Jacquemont, Laetitia Lambert, Elodie Lacaze, Julien Thevenon, Nadine Hana, Julien Van-Gils, Charlotte Dubucs, Varoona Bizaoui, Marion Gerard-Blanluet, James Lespinasse, Sandra Mercier, Anne-Marie Guerrot, Isabelle Maystadt, Emilie Tisserant, Laurence Faivre, Christophe Philippe, Yannis Duffourd, Christel Thauvin-Robinet
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Introduction: Exome sequencing has a diagnostic yield ranging from 25% to 70% in rare diseases and regularly implicates genes in novel disorders. Retrospective data reanalysis has demonstrated strong efficacy in improving diagnosis, but poses organiz
Externí odkaz:
https://doaj.org/article/c14e4795329344a3bad7a62c2a7011bd
Autor:
Andrew K. Sobering, Laura M. Bryant, Dong Li, Julie McGaughran, Isabelle Maystadt, Stephanie Moortgat, John M. Graham, Jr., Arie van Haeringen, Claudia Ruivenkamp, Roos Cuperus, Julie Vogt, Jenny Morton, Charlotte Brasch-Andersen, Maria Steenhof, Lars Kjærsgaard Hansen, Élodie Adler, Stanislas Lyonnet, Veronique Pingault, Marlin Sandrine, Alban Ziegler, Tyhiesia Donald, Beverly Nelson, Brandon Holt, Oleksandra Petryna, Helen Firth, Kirsty McWalter, Jacob Zyskind, Aida Telegrafi, Jane Juusola, Richard Person, Michael J. Bamshad, Dawn Earl, Anne Chun-Hui Tsai, Katherine R. Yearwood, Elysa Marco, Catherine Nowak, Jessica Douglas, Hakon Hakonarson, Elizabeth J. Bhoj
Publikováno v:
HGG Advances, Vol 4, Iss 1, Pp 100168- (2023)
Externí odkaz:
https://doaj.org/article/ddf394ee2a824e889ca80fd9964b128c
Autor:
Charlène Lhuissier, Bart E. Wagner, Amy Vincent, Gaëtan Garraux, Olivier Hougrand, Rudy Van Coster, Valerie Benoit, Deniz Karadurmus, Guy Lenaers, Naïg Gueguen, Arnaud Chevrollier, Isabelle Maystadt
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
Mutations in DNM1L (DRP1), which encode a key player of mitochondrial and peroxisomal fission, have been reported in patients with the variable phenotypic spectrum, ranging from non-syndromic optic atrophy to lethal infantile encephalopathy. Here, we
Externí odkaz:
https://doaj.org/article/fb9e9eb0a6ec49f79860bee515199a0a
Autor:
Andrew K. Sobering, Laura M. Bryant, Dong Li, Julie McGaughran, Isabelle Maystadt, Stephanie Moortgat, John M. Graham, Jr., Arie van Haeringen, Claudia Ruivenkamp, Roos Cuperus, Julie Vogt, Jenny Morton, Charlotte Brasch-Andersen, Maria Steenhof, Lars Kjærsgaard Hansen, Élodie Adler, Stanislas Lyonnet, Veronique Pingault, Marlin Sandrine, Alban Ziegler, Tyhiesia Donald, Beverly Nelson, Brandon Holt, Oleksandra Petryna, Helen Firth, Kirsty McWalter, Jacob Zyskind, Aida Telegrafi, Jane Juusola, Richard Person, Michael J. Bamshad, Dawn Earl, Anne Chun-Hui Tsai, Katherine R. Yearwood, Elysa Marco, Catherine Nowak, Jessica Douglas, Hakon Hakonarson, Elizabeth J. Bhoj
Publikováno v:
HGG Advances, Vol 3, Iss 3, Pp 100102- (2022)
Summary: Loss-of-function variants in PHD Finger Protein 8 (PHF8) cause Siderius X-linked intellectual disability (ID) syndrome, hereafter called PHF8-XLID. PHF8 is a histone demethylase that is important for epigenetic regulation of gene expression.
Externí odkaz:
https://doaj.org/article/a51bea96ddd1445fa536cbf3b76cb27c
Autor:
Tanguy Demaret, René Wintjens, Gwenaelle Sana, Joachim Docquir, Frederic Bertin, Christophe Ide, Olivier Monestier, Deniz Karadurmus, Valerie Benoit, Isabelle Maystadt
Publikováno v:
Frontiers in Endocrinology, Vol 13 (2022)
PTH resistance is characterized by elevated parathyroid hormone (PTH) levels, hypocalcemia, hyperphosphatemia and it is classically associated with GNAS locus genetic or epigenetic defects. Inactivating PTH/PTHrP signaling disorders (iPPSD) define ov
Externí odkaz:
https://doaj.org/article/83a6fdcdadd640549bf9cb6a62b130ff
Autor:
Sarah Duerinckx, Julie Désir, Camille Perazzolo, Cindy Badoer, Valérie Jacquemin, Julie Soblet, Isabelle Maystadt, Yusuf Tunca, Bettina Blaumeiser, Berten Ceulemans, Winnie Courtens, François‐Guillaume Debray, Anne Destree, Koenraad Devriendt, Anna Jansen, Kathelijn Keymolen, Damien Lederer, Bart Loeys, Marije Meuwissen, Stéphanie Moortgat, Geert Mortier, Marie‐Cécile Nassogne, Tayeb Sekhara, Rudy Van Coster, Jenny Van Den Ende, Nathalie Van der Aa, Hilde Van Esch, Olivier Vanakker, Helene Verhelst, Catheline Vilain, Sarah Weckhuysen, Sandrine Passemard, Alain Verloes, Alec Aeby, Nicolas Deconinck, Patrick Van Bogaert, Isabelle Pirson, Marc Abramowicz
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 9, Pp n/a-n/a (2021)
Abstract Background Primary microcephaly (PM) is defined as a significant reduction in occipitofrontal circumference (OFC) of prenatal onset. Clinical and genetic heterogeneity of PM represents a diagnostic challenge. Methods We performed detailed ph
Externí odkaz:
https://doaj.org/article/7feac2e044344c5c91673d23c2f81236
Autor:
Marie‐Julie Debuf, Valérie Benoit, Marie Cassart, Kalina Gajewska, Nathalie Gauquier, Colombine Meunier, Anne Rassart, Isabelle Maystadt
Publikováno v:
Clinical Case Reports, Vol 7, Iss 7, Pp 1352-1354 (2019)
Abstract Campomelic dysplasia (CD) and its variant acampomelic campomelic dysplasia (ACD) are caused by SOX9 haploinsufficiency. This gene encodes a transcription factor crucial for embryogenesis and primarily expressed in the olfactory bulbs. The de
Externí odkaz:
https://doaj.org/article/1ef3b0e4fd95484c97fd830f2dc2507d
Autor:
Pleuntje J. van der Sluijs, Mariëlle Alders, Alexander J. M. Dingemans, Kareesma Parbhoo, Bregje W. van Bon, Jennifer C. Dempsey, Dan Doherty, Johan T. den Dunnen, Erica H. Gerkes, Ilana M. Milller, Stephanie Moortgat, Debra S. Regier, Claudia A. L. Ruivenkamp, Betsy Schmalz, Thomas Smol, Kyra E. Stuurman, Catherine Vincent-Delorme, Bert B. A. de Vries, Bekim Sadikovic, Scott E. Hickey, Jill A. Rosenfeld, Isabelle Maystadt, Gijs W. E. Santen
Publikováno v:
Genes, Vol 12, Iss 8, p 1275 (2021)
ARID1B is one of the most frequently mutated genes in intellectual disability (~1%). Most variants are readily classified, since they are de novo and are predicted to lead to loss of function, and therefore classified as pathogenic according to the A
Externí odkaz:
https://doaj.org/article/4620ab4def4c476884300f873098db4c
Autor:
Patrick Lüningschrör, Beyenech Binotti, Benjamin Dombert, Peter Heimann, Angel Perez-Lara, Carsten Slotta, Nadine Thau-Habermann, Cora R. von Collenberg, Franziska Karl, Markus Damme, Arie Horowitz, Isabelle Maystadt, Annette Füchtbauer, Ernst-Martin Füchtbauer, Sibylle Jablonka, Robert Blum, Nurcan Üçeyler, Susanne Petri, Barbara Kaltschmidt, Reinhard Jahn, Christian Kaltschmidt, Michael Sendtner
Publikováno v:
Nature Communications, Vol 8, Iss 1, Pp 1-17 (2017)
Accumulating evidence suggests that disruption of autophagy is associated with neurodegeneration. Here the authors show that Plekhg5 acts as a GEF for Rab26, a small GTPase that promotes the autophagy of synaptic vesicles in neurons; mice lacking Ple
Externí odkaz:
https://doaj.org/article/ba7baaeefffb431d9f931d09c46a1a22
Autor:
Elisa A. Colombo, Andrea Locatelli, Laura Cubells Sánchez, Sara Romeo, Nursel H. Elcioglu, Isabelle Maystadt, Altea Esteve Martínez, Alessandra Sironi, Laura Fontana, Palma Finelli, Cristina Gervasini, Vanna Pecile, Lidia Larizza
Publikováno v:
International Journal of Molecular Sciences, Vol 19, Iss 4, p 1103 (2018)
Biallelic mutations in RECQL4 gene, a caretaker of the genome, cause Rothmund-Thomson type-II syndrome (RTS-II) and confer increased cancer risk if they damage the helicase domain. We describe five families exemplifying clinical and allelic heterogen
Externí odkaz:
https://doaj.org/article/4fcf9b479dd54a3da16ec33a7ecaba88