Výsledky vyhledávání - "Katrien Stouffs"

Akademický článek

Loss, Gain and Altered Function of GlyR α2 Subunit Mutations in Neurodevelopmental Disorders

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

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Akademický článek

Functional analysis of the F337C mutation in the CLCN1 gene associated with dominant myotonia congenita reveals an alteration of the macroscopic conductance and voltage dependence

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

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Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B

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⟩

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6df8d21797352c70b1f96c5314f0ab4
http://www.scopus.com/inward/record.url?scp=85128529767&partnerID=8YFLogxK

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Akademický článek

Recurrent NEDD4L Variant in Periventricular Nodular Heterotopia, Polymicrogyria and Syndactyly

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

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Rare pathogenic variants in WNK3 cause X-linked intellectual disability

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⟩

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::711e752a43d1442b0a91b2645fc1747e
https://doi.org/10.1016/j.gim.2022.05.009

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Protein-coding and rRNA variants drive a mitochondrial DNA genotype that associates to low birth weight and is more common in individuals born after assisted reproductive technologies

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

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Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology

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

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

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