Publication Equipes Bahram, Friant et collaborateurs.
NCKAP1L defects lead to a novel syndrome combining immunodeficiency, lymphoproliferation, and hyperinflammation Carla Noemi Castro , Michelle Rosenzwajg, Raphael Carapito, Mohammad Shahrooei, Martina Konantz , Amjad Khan , Zhichao Miao, Miriam Groß , Thibaud Tranchant , Mirjana Radosavljevic,…
Publication équipe Friant et collaborateur
Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia Diane Doummar, Christel Dentel , Romane Lyautey , Julia Metreau , Boris Keren , Nathalie Drouot, Ludivine Malherbe , Viviane Bouilleret , Jérémie Courraud, Maria Paola Valenti-Hirsch , Lorella Minotti , Blandine…
Publication Equipe Becker, Friant et collaborateurs
Assigning mitochondrial localization of dual localized proteins using a yeast Bi-Genomic Mitochondrial-Split-GFP, Gaétan Bader , Ludovic Enkler , Yuhei Araiso , Marine Hemmerle , Krystyna Binko , Emilia Baranowska , Johan-Owen De Craene , Julie Ruer-Laventie , Jean Pieters , Déborah…
Publication Equipe Bahram et Equipe Friant
A Homozygous Missense Variant in PPP1R1B/DARPP-32 Is Associated With Generalized Complex Dystonia.
Publication équipe Friant et collaborateurs
Proteasome subunit PSMC variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress Ariane Kröll-Hermi, Frédéric Ebstein, Corinne Stoetzel, Véronique Geoffroy, Elise Schaefer, Sophie Scheidecker, Séverine Bär , Masanari Takamiya , Koichi Kawakami, Barbara A Zieba…
Publication équipe Friant et collaborateurs
Yeast as a Model to Understand Actin-Mediated Cellular Functions in Mammals-Illustrated with Four Actin Cytoskeleton Proteins Zain Akram, Ishtiaq Ahmed, Heike Mack, Ramandeep Kaur, Richard C Silva, Beatriz A Castilho, Sylvie Friant, Evelyn Sattlegger, Alan L Munn
Publication Equipe Friant et collaborateurs
Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140 Véronique Geoffroy , Corinne Stoetzel , Sophie Scheidecker, Elise Schaefer, Isabelle Perrault , Séverine Bär , Ariane Kröll , Marion Delbarre , Manuela Antin , Anne-Sophie Leuvrey ,…
Equipe Friant : Yeast as a Model to Understand Actin-Mediated Cellular Functions in Mammals Cells 2020
Yeast as a Model to Understand Actin-Mediated Cellular Functions in Mammals—Illustrated with Four Actin Cytoskeleton Proteins Zain Akram, Ishtiaq Ahmed, Heike Mack, Ramandeep Kaur, Richard C. Silva, Beatriz A. Castilho, Sylvie Friant, Evelyn Sattlegger and Alan L. Munn Cells 2020, 9(3), 672;…
Equipe Friant Publication KARS
Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathy. Scheidecker S, Bär S, Stoetzel C, Geoffroy V, Lannes B, Rinaldi B, Fischer F, Becker HD, Pelletier V, Pagan C, Acquaviva-Bourdain C, Kremer S, Mirande M, Tranchant C, Muller J, Friant S, Dollfus H. Hum…
Equipe Friant Publication SLC10A7
A new SLC10A7 homozygous missense mutation responsible for a milder phenotype of skeletal dysplasia with Amelogenesis imperfecta. Publication dans le journal Frontiers in Genetics en collaboration avec la Faculté Dentaire et la Faculté de Médecine de Strasbourg, sur l'identification d'un nouveau…