Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Louis Januel"'
Autor:
Mariagrazia Talarico, Francesco Fortunato, Audrey Labalme, Louis Januel, Nicolas Chatron, Damien Sanlaville, Ilaria Sammarra, Monica Gagliardi, Radha Procopio, Paola Valentino, Grazia Annesi, Gaetan Lesca, Antonio Gambardella
Publikováno v:
Epilepsia Open, Vol 9, Iss 3, Pp 951-959 (2024)
Abstract Objectives Myotonia is a clinical sign typical of a group of skeletal muscle channelopathies, the non‐dystrophic myotonias. These disorders are electrophysiologically characterized by altered membrane excitability, due to specific genetic
Externí odkaz:
https://doaj.org/article/5869bb0106244745b99b7d725dff3c47
Autor:
Sam Bradbrook, Gail Graham, Melissa Carter, Maria Kibaek, Martin Larsen, Christina Fagerberg, Katherine Dawson, Cheryl Meuter, Alexander Pepler, Thomas Besnard, Bertrand Isidor, Stéphane Bezieau, Benjamin Cogné, Marie Vincent, Katherine Bjorgo, Thomas Courtin, Lisa Emrick, Jill Rosenfeld, Undiagnosed Diseases Network, Julian Martinez-Agosto, Mathilde Heulin, Gilles Morin, Pauline Monin, Louis Januel, Marie-Noëlle Bonnet-Dupeyron, Mathilde Pujalte, Kim Worley, Monika Weisz-Hubshman, Patricia Dickson, Michelle Thompson, Julien Marcadier
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101322- (2024)
Externí odkaz:
https://doaj.org/article/ba5df6977d904fa8a6136b3eb91a3ba4
Autor:
Ethiraj Ravindran, Gaetan Lesca, Louis Januel, Linus Goldgruber, Achim Dickmanns, Henri Margot, Angela M. Kaindl
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
Nucleoporin (NUP) 85 is a member of the Y-complex of nuclear pore complex (NPC) that is key for nucleocytoplasmic transport function, regulation of mitosis, transcription, and chromatin organization. Mutations in various nucleoporin genes have been l
Externí odkaz:
https://doaj.org/article/ed1e140840424257b23b4291c8670577
Autor:
Céline Capron, Louis Januel, Gaëlle Vieville, Sylvie Jaillard, Paul Kuentz, Gaëlle Salaun, Gwenaël Nadeau, Patrice Clement, Marie Pierre Brechard, Bérénice Herve, Jean Michel Dupont, Nicolas Gruchy, Pascal Chambon, Fatma Abdelhedi, Eric Dahlen, Philippe Vago, Radu Harbuz, Ingrid Plotton, Charles Coutton, Marc‐Antoine Belaud‐Rotureau, Caroline Schluth‐Bolard, François Vialard
Publikováno v:
Andrology
Andrology, 2022, 10 (8), pp. 1625-1631. ⟨10.1111/andr.13279⟩
Andrology, 2022, 10 (8), pp. 1625-1631. ⟨10.1111/andr.13279⟩
International audience; The translocation of SRY onto one of the two X chromosomes results in a 46,XX testicular disorder of sex development; this is supposedly due to non-allelic homologous recombination between the protein kinase X gene (PRKX) and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e3955e1a3d8d8d541af1211341a5b49
https://hal.inrae.fr/hal-03768973/document
https://hal.inrae.fr/hal-03768973/document
Autor:
Maud Tusseau, Ema Lovšin, Charlotte Samaille, Rémi Pescarmona, Anne-Laure Mathieu, Maria-Cristina Maggio, Velma Selmanović, Marusa Debeljak, Angelique Dachy, Gregor Novljan, Alexandre Janin, Louis Januel, Jean-Baptiste Gibier, Emilie Chopin, Isabelle Rouvet, David Goncalves, Nicole Fabien, Gillian I Rice, Gaétan Lesca, Audrey Labalme, Paola Romagnani, Thierry Walzer, Sebastien Viel, Magali Perret, Yanick J. Crow, Tadej Avčin, Rolando Cimaz, Alexandre Belot
Publikováno v:
Journal of clinical immunology. 42(6)
Background: Deoxyribonuclease 1 like 3 (DNASE1L3) is a secreted enzyme that has been shown to digest the extracellular chromatin derived from apoptotic bodies, and DNASE1L3 pathogenic variants have been associated with a lupus phenotype. It is unclea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63ec073ef6334a7e8b88d9ace79d1694
https://pubmed.ncbi.nlm.nih.gov/35670985
https://pubmed.ncbi.nlm.nih.gov/35670985
Autor:
Antoine Delinière, Alexandre Janin, Louis Januel, Philippe Chevalier, Cécile Cazeneuve, Gilles Millat
Publikováno v:
Molecular diagnosistherapy. 25(3)
Molecular diagnosis in inherited cardiac diseases is challenging because of the significant genetic and clinical heterogeneity. We present a detailed molecular investigation of a cohort of 4185 patients with referrals for inherited cardiac diseases.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4710a7d19e7f750a9010ea661e2756ec
https://pubmed.ncbi.nlm.nih.gov/33954932
https://pubmed.ncbi.nlm.nih.gov/33954932
Autor:
Valérie Chanavat, Pierre-Antoine Rollat-Farnier, Gilles Millat, Alexandre Janin, Claire Bardel, Séverine Nony, Louis Januel
Publikováno v:
DNA and cell biology. 40(3)
Dilated cardiomyopathy (DCM) is the most common form of cardiomyopathy and one of the most common causes of heart failure. TTN-truncating variants represent the most common cause of DCM. Similarly, among other prevalent DCM-causing genes, truncating
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4325a741cf498f840990bbacbe5d095a
https://pubmed.ncbi.nlm.nih.gov/33493017
https://pubmed.ncbi.nlm.nih.gov/33493017