Zobrazeno 1 - 10
of 93
pro vyhledávání: '"Katrien Stouffs"'
Autor:
Joke Mertens, Florence Belva, Aafke P. A. van Montfoort, Marius Regin, Filippo Zambelli, Sara Seneca, Edouard Couvreu de Deckersberg, Maryse Bonduelle, Herman Tournaye, Katrien Stouffs, Kurt Barbé, Hubert J. M. Smeets, Hilde Van de Velde, Karen Sermon, Christophe Blockeel, Claudia Spits
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-16 (2024)
Abstract Children conceived through assisted reproductive technologies (ART) have an elevated risk of lower birthweight, yet the underlying cause remains unclear. Our study explores mitochondrial DNA (mtDNA) variants as contributors to birthweight di
Externí odkaz:
https://doaj.org/article/cb9554f3c7f040908d255c9128715707
Autor:
Xiumin Chen, Katie A. Wilson, Natascha Schaefer, Lachlan De Hayr, Mark Windsor, Emmanuel Scalais, Germaine van Rijckevorsel, Katrien Stouffs, Carmen Villmann, Megan L. O’Mara, Joseph W. Lynch, Robert J. Harvey
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 15 (2022)
Glycine receptors (GlyRs) containing the α2 subunit govern cell fate, neuronal migration and synaptogenesis in the developing cortex and spinal cord. Rare missense variants and microdeletions in the X-linked GlyR α2 subunit gene (GLRA2) have been a
Externí odkaz:
https://doaj.org/article/743362d01b994827a23b902182262cc5
Autor:
Kevin Jehasse, Kathleen Jacquerie, Alice de Froidmont, Camille Lemoine, Thierry Grisar, Katrien Stouffs, Bernard Lakaye, Vincent Seutin
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 2, Pp n/a-n/a (2021)
ABSTRACT Background Myotonia congenita (MC) is a common channelopathy affecting skeletal muscle and which is due to pathogenic variants within the CLCN1 gene. Various alterations in the function of the channel have been reported and we here illustrat
Externí odkaz:
https://doaj.org/article/ec39990f9d6c40aa8b1c45daed7fc1fa
Autor:
Katrien Stouffs, Patrick Verloo, Stefanie Brock, Luc Régal, Diane Beysen, Berten Ceulemans, Anna C. Jansen, Marije E.C. Meuwissen
Publikováno v:
Frontiers in Genetics, Vol 11 (2020)
NEDD4L encodes an ubiquitin ligase which is expressed in the cortex and ventricular zone of the fetal brain. Missense variants in NEDD4L have been reported in nine patients with periventricular nodular heterotopia (PNH), polymicrogyria, cleft palate,
Externí odkaz:
https://doaj.org/article/5b1e469f059b47b6986cec8e6e0ff986
Autor:
Kim Vancampenhout, Ben Caljon, Claudia Spits, Katrien Stouffs, An Jonckheere, Linda De Meirleir, Willy Lissens, Arnaud Vanlander, Joél Smet, Boel De Paepe, Rudy Van Coster, Sara Seneca
Publikováno v:
PLoS ONE, Vol 9, Iss 11, p e112950 (2014)
The advent of massive parallel sequencing (MPS) has revolutionized the field of human molecular genetics, including the diagnostic study of mitochondrial (mt) DNA dysfunction. The analysis of the complete mitochondrial genome using MPS platforms is n
Externí odkaz:
https://doaj.org/article/084d91aa6c5742289cd80d0e88be09ce
Autor:
Stefanie Brock, Annie Laquerriere, Florent Marguet, Scott J Myers, Yuan Hongjie, Diana Baralle, Tim Vanderhasselt, Katrien Stouffs, Kathelijn Keymolen, Sukhan Kim, James Allen, Gil Shaulsky, Jamel Chelly, Pascale Marcorelle, Jacqueline Aziza, Laurent Villard, Elise Sacaze, Marie C Y de Wit, Martina Wilke, Grazia Maria Simonetta Mancini, Ute Hehr, Derek Lim, Sahar Mansour, Stephen F Traynelis, Claire Beneteau, Marie Denis-Musquer, Anna C Jansen, Andrew E Fry, Nadia Bahi-Buisson
Publikováno v:
Journal of medical genetics
Journal of Medical Genetics, 60(2), 183-192. BMJ Publishing Group
Journal of Medical Genetics
Journal of Medical Genetics, 2022, pp.jmedgenet-2021-107971. ⟨10.1136/jmedgenet-2021-107971⟩
Journal of Medical Genetics, 60(2), 183-192. BMJ Publishing Group
Journal of Medical Genetics
Journal of Medical Genetics, 2022, pp.jmedgenet-2021-107971. ⟨10.1136/jmedgenet-2021-107971⟩
BackgroundMalformations of cortical development (MCDs) have been reported in a subset of patients with pathogenic heterozygous variants inGRIN1orGRIN2B, genes which encode for subunits of the N-methyl-D-aspartate receptor (NMDAR). The aim of this stu
Autor:
Sébastien Küry, Jinwei Zhang, Thomas Besnard, Alfonso Caro-Llopis, Xue Zeng, Stephanie M. Robert, Sunday S. Josiah, Emre Kiziltug, Anne-Sophie Denommé-Pichon, Benjamin Cogné, Adam J. Kundishora, Le T. Hao, Hong Li, Roger E. Stevenson, Raymond J. Louie, Wallid Deb, Erin Torti, Virginie Vignard, Kirsty McWalter, F. Lucy Raymond, Farrah Rajabi, Emmanuelle Ranza, Detelina Grozeva, Stephanie A. Coury, Xavier Blanc, Elise Brischoux-Boucher, Boris Keren, Katrin Õunap, Karit Reinson, Pilvi Ilves, Ingrid M. Wentzensen, Eileen E. Barr, Solveig Heide Guihard, Perrine Charles, Eleanor G. Seaby, Kristin G. Monaghan, Marlène Rio, Yolande van Bever, Marjon van Slegtenhorst, Wendy K. Chung, Ashley Wilson, Delphine Quinquis, Flora Bréhéret, Kyle Retterer, Pierre Lindenbaum, Emmanuel Scalais, Lindsay Rhodes, Katrien Stouffs, Elaine M. Pereira, Sara M. Berger, Sarah S. Milla, Ankita B. Jaykumar, Melanie H. Cobb, Shreyas Panchagnula, Phan Q. Duy, Marie Vincent, Sandra Mercier, Brigitte Gilbert-Dussardier, Xavier Le Guillou, Séverine Audebert-Bellanger, Sylvie Odent, Sébastien Schmitt, Pierre Boisseau, Dominique Bonneau, Annick Toutain, Estelle Colin, Laurent Pasquier, Richard Redon, Arjan Bouman, Jill. A. Rosenfeld, Michael J. Friez, Helena Pérez-Peña, Syed Raza Akhtar Rizvi, Shozeb Haider, Stylianos E. Antonarakis, Charles E. Schwartz, Francisco Martínez, Stéphane Bézieau, Kristopher T. Kahle, Bertrand Isidor
Publikováno v:
Genetics in Medicine, 24(9), 1941-1951. Lippincott Williams & Wilkins
GENETICS IN MEDICINE
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Genetics in Medicine
Genetics in Medicine, 2022, 24 (9), pp.1941-1951. ⟨10.1016/j.gim.2022.05.009⟩
GENETICS IN MEDICINE
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Genetics in Medicine
Genetics in Medicine, 2022, 24 (9), pp.1941-1951. ⟨10.1016/j.gim.2022.05.009⟩
PURPOSE: WNK3 kinase (PRKWNK3) has been implicated in the development and function of the brain via its regulation of the cation-chloride cotransporters, but the role of WNK3 in human development is unknown. METHOD: We ascertained exome or genome seq
Autor:
Joke Mertens, Florence Belva, Aafke van Montfoort, Filippo Zambelli, Sara Seneca, Edouard Couvreu de Deckersberg, Maryse Bonduelle, Herman Tournaye, Katrien Stouffs, Kurt Barbé, Hubert Smeets, Hilde Van de Velde, Karen Sermon, Christophe Blockeel, Claudia Spits
Children born using assisted reproductive technologies (ART) have an increased risk of a lower birth weight, the cause of which remains unclear. As a causative factor, we hypothesized that variants in the mitochondrial DNA (mtDNA) that are not associ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e01419a27eeaaf11f58c030d58c66925
https://doi.org/10.21203/rs.3.rs-2337956/v1
https://doi.org/10.21203/rs.3.rs-2337956/v1
Autor:
Siddharth Banka, Abigail Bennington, Martin J Baker, Ellen Rijckmans, Giuliana D Clemente, Nurhuda Mohamad Ansor, Hilary Sito, Pritha Prasad, Kwame Anyane-Yeboa, Lauren Badalato, Boyan Dimitrov, David Fitzpatrick, Anna C E Hurst, Anna C Jansen, Melissa A Kelly, Ian Krantz, Claudine Rieubland, Meredith Ross, Natasha L Rudy, Javier Sanz, Katrien Stouffs, Zhuo Luan Xu, Angeliki Malliri, Marcelo G Kazanietz, Tom H Millard
Publikováno v:
Banka, S, Bennington, A, Baker, M J, Clemente, G, Rijckmans, E & Millard, T H 2022, ' Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology. ', Brain, vol. 145, no. 12, awac049, pp. 4232-4245 . https://doi.org/10.1093/brain/awac049
Banka, Siddharth; Bennington, Abigail; Baker, Martin J; Rijckmans, Ellen; Clemente, Giuliana D; Ansor, Nurhuda Mohamad; Sito, Hilary; Prasad, Pritha; Anyane-Yeboa, Kwame; Badalato, Lauren; Dimitrov, Boyan; Fitzpatrick, David; Hurst, Anna C E; Jansen, Anna C; Kelly, Melissa A; Krantz, Ian; Rieubland, Claudine; Ross, Meredith; Rudy, Natasha L; Sanz, Javier; ... (2022). Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology. Brain : a journal of neurology, 145(12), pp. 4232-4245. Oxford University Press 10.1093/brain/awac049
Banka, S, Bennington, A, Baker, M J, Rijckmans, E, Clemente, G D, Ansor, N M, Sito, H, Prasad, P, Anyane-Yeboa, K, Badalato, L, Dimitrov, B, Fitzpatrick, D, Hurst, A C E, Jansen, A C, Kelly, M A, Krantz, I, Rieubland, C, Ross, M, Rudy, N L, Sanz, J, Stouffs, K, Xu, Z L, Malliri, A, Kazanietz, M G & Millard, T H 2022, ' Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology ', Brain . https://doi.org/10.1093/brain/awac049
Banka, Siddharth; Bennington, Abigail; Baker, Martin J; Rijckmans, Ellen; Clemente, Giuliana D; Ansor, Nurhuda Mohamad; Sito, Hilary; Prasad, Pritha; Anyane-Yeboa, Kwame; Badalato, Lauren; Dimitrov, Boyan; Fitzpatrick, David; Hurst, Anna C E; Jansen, Anna C; Kelly, Melissa A; Krantz, Ian; Rieubland, Claudine; Ross, Meredith; Rudy, Natasha L; Sanz, Javier; ... (2022). Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology. Brain : a journal of neurology, 145(12), pp. 4232-4245. Oxford University Press 10.1093/brain/awac049
Banka, S, Bennington, A, Baker, M J, Rijckmans, E, Clemente, G D, Ansor, N M, Sito, H, Prasad, P, Anyane-Yeboa, K, Badalato, L, Dimitrov, B, Fitzpatrick, D, Hurst, A C E, Jansen, A C, Kelly, M A, Krantz, I, Rieubland, C, Ross, M, Rudy, N L, Sanz, J, Stouffs, K, Xu, Z L, Malliri, A, Kazanietz, M G & Millard, T H 2022, ' Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology ', Brain . https://doi.org/10.1093/brain/awac049
RAC1 is a highly conserved Rho GTPase critical for many cellular and developmental processes. De novo missense RAC1 variants cause a highly variable neurodevelopmental disorder. Some of these variants have previously been shown to have a dominant neg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c59ac0233908bd46903a99816ffede10
https://hdl.handle.net/1983/7f3c39a1-5287-457f-ac73-0cedb02ece00
https://hdl.handle.net/1983/7f3c39a1-5287-457f-ac73-0cedb02ece00
Autor:
Joke Mertens, Florence Belva, Aafke P.A. van Montfoort, Filippo Zambelli, Sara Seneca, Edouard Couvreu de Deckersberg, Maryse Bonduelle, Herman Tournaye, Katrien Stouffs, Kurt Barbé, Hubert Smeets, Hilde Van de Velde, Karen Sermon, Christophe Blockeel, Claudia Spits
BackgroundChildren born using assisted reproductive technologies (ART) have an increased risk of a lower birth weight, the cause of which remains unclear. As a causative factor, we hypothesized that variants in the mitochondrial DNA (mtDNA) that are
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::67dfca8f0f08df09284802ffa5c066af
https://doi.org/10.1101/2022.09.05.22279608
https://doi.org/10.1101/2022.09.05.22279608