Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype

Autor: Susan M. Hiatt, Slavica Trajkova, Matteo Rossi Sebastiano, E. Christopher Partridge, Fatima E. Abidi, Ashlyn Anderson, Muhammad Ansar, Stylianos E. Antonarakis, Azadeh Azadi, Ruxandra Bachmann-Gagescu, Andrea Bartuli, Caroline Benech, Jennifer L. Berkowitz, Michael J. Betti, Alfredo Brusco, Ashley Cannon, Giulia Caron, Yanmin Chen, Meagan E. Cochran, Tanner F. Coleman, Molly M. Crenshaw, Laurence Cuisset, Cynthia J. Curry, Hossein Darvish, Serwet Demirdas, Maria Descartes, Jessica Douglas, David A. Dyment, Houda Zghal Elloumi, Giuseppe Ermondi, Marie Faoucher, Emily G. Farrow, Stephanie A. Felker, Heather Fisher, Anna C.E. Hurst, Pascal Joset, Melissa A. Kelly, Stanislav Kmoch, Benjamin R. Leadem, Michael J. Lyons, Marina Macchiaiolo, Martin Magner, Giorgia Mandrile, Francesca Mattioli, Megan McEown, Sarah K. Meadows, Livija Medne, Naomi J.L. Meeks, Sarah Montgomery, Melanie P. Napier, Marvin Natowicz, Kimberly M. Newberry, Marcello Niceta, Lenka Noskova, Catherine B. Nowak, Amanda G. Noyes, Matthew Osmond, Eloise J. Prijoles, Jada Pugh, Verdiana Pullano, Chloé Quélin, Simin Rahimi-Aliabadi, Anita Rauch, Sylvia Redon, Alexandre Reymond, Caitlin R. Schwager, Elizabeth A. Sellars, Angela E. Scheuerle, Elena Shukarova-Angelovska, Cara Skraban, Elliot Stolerman, Bonnie R. Sullivan, Marco Tartaglia, Isabelle Thiffault, Kevin Uguen, Luis A. Umaña, Yolande van Bever, Saskia N. van der Crabben, Marjon A. van Slegtenhorst, Quinten Waisfisz, Camerun Washington, Lance H. Rodan, Richard M. Myers, Gregory M. Cooper

Publikováno v: American journal of human genetics, 110(2), 215-227. Cell Press
Hiatt, S M, Trajkova, S, Sebastiano, M R, Partridge, E C, Abidi, F E, Anderson, A, Ansar, M, Antonarakis, S E, Azadi, A, Bachmann-Gagescu, R, Bartuli, A, Benech, C, Berkowitz, J L, Betti, M J, Brusco, A, Cannon, A, Caron, G, Chen, Y, Cochran, M E, Coleman, T F, Crenshaw, M M, Cuisset, L, Curry, C J, Darvish, H, Demirdas, S, Descartes, M, Douglas, J, Dyment, D A, Elloumi, H Z, Ermondi, G, Faoucher, M, Farrow, E G, Felker, S A, Fisher, H, Hurst, A C E, Joset, P, Kelly, M A, Kmoch, S, Leadem, B R, Lyons, M J, Macchiaiolo, M, Magner, M, Mandrile, G, Mattioli, F, McEown, M, Meadows, S K, Medne, L, Meeks, N J L, Montgomery, S, Napier, M P, Natowicz, M, Newberry, K M, Niceta, M, Noskova, L, Nowak, C B, Noyes, A G, Osmond, M, Prijoles, E J, Pugh, J, Pullano, V, Quélin, C, Rahimi-Aliabadi, S, Rauch, A, Redon, S, Reymond, A, Schwager, C R, Sellars, E A, Scheuerle, A E, Shukarova-Angelovska, E, Skraban, C, Stolerman, E, Sullivan, B R, Tartaglia, M, Thiffault, I, Uguen, K, Umaña, L A, van Bever, Y, van der Crabben, S N, van Slegtenhorst, M A, Waisfisz, Q, Washington, C, Rodan, L H, Myers, R M & Cooper, G M 2023, ' Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype ', American journal of human genetics, vol. 110, no. 2, pp. 215-227 . https://doi.org/10.1016/j.ajhg.2022.12.007
American Journal of Human Genetics
American Journal of Human Genetics, 2023, 110 (2), pp.215-227. ⟨10.1016/j.ajhg.2022.12.007⟩
American Journal of Human Genetics, 110(2), 215-227. Cell Press

Neurodevelopmental disorders (NDDs) result from highly penetrant variation in hundreds of different genes, some of which have not yet been identified. Using the MatchMaker Exchange, we assembled a cohort of 27 individuals with rare, protein-altering

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9940ea52913c5bbdc54a98d0f9168154
https://pure.amc.nl/en/publications/deleterious-proteinaltering-variants-in-the-transcriptional-coregulator-zmym3-in-27-individuals-with-a-neurodevelopmental-delay-phenotype(b3792507-cf7f-4240-a6b2-5cc40fd0a55c).html

Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome

Autor: Diana Rodriguez, Vincent Bondet, Alexandre Belot, Luis Seabra, Claude Cances, Isabelle Desguerre, Virginie Levrat, Diane Doummar, Elodie Henry, Marie Hully, Mathieu P Rodero, Isabelle Melki, Magalie Barth, Alba Llibre, Agathe Roubertie, François-Guillaume Debray, Jean-Marc Tréluyer, Michaela Semeraro, Valérie Jolaine, Nathalie Boddaert, Pierre Meyer, Christine Barnerias, Carolina Uggenti, Jinmi Baek, Gillian I. Rice, Flore Rozenberg, Darragh Duffy, Stéphane Blanche, Marie-Louise Frémond, Florence Renaldo, Naïm Bouazza, Hendy Abdoul, Leo A. H. Zeef, Mame N Sambe, Candice Meyzer, Yanick J. Crow, Marie-Christine Nougues, Alice Lepelley, Naoki Kitabayashi

Publikováno v: New England Journal of Medicine
New England Journal of Medicine, 2018, 379 (23), pp.2275-2277. ⟨10.1056/NEJMc1810983⟩
Rice, G I, Meyzer, C, Bouazza, N, Hully, M, Boddaert, N, Semeraro, M, Zeef, L A H, Rozenberg, F, Bondet, V, Duffy, D, Llibre, A, Baek, J, Sambe, M N, Henry, E, Jolaine, V, Barnerias, C, Barth, M, Belot, A, Cances, C, Debray, F-G, Doummar, D, Frémond, M-L, Kitabayashi, N, Lepelley, A, Levrat, V, Melki, I, Meyer, P, Nougues, M-C, Renaldo, F, Rodero, M P, Rodriguez, D, Roubertie, A, Seabra, L, Uggenti, C, Abdoul, H, Treluyer, J-M, Desguerre, I, Blanche, S & Crow, Y J 2018, ' Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome ', New England Journal of Medicine, vol. 379, no. 23, pp. 2275-7 . https://doi.org/10.1056/NEJMc1810983
New England Journal of Medicine, Massachusetts Medical Society, 2018, 379 (23), pp.2275-2277. ⟨10.1056/NEJMC1810983⟩
New England Journal of Medicine, Massachusetts Medical Society, 2018, 379 (23), pp.2275-2277. ⟨10.1056/NEJMc1810983⟩

International audience; To the Editor:The Aicardi–Goutières syndrome is a genetic encephalopathy that is associated with childhood illness and death. The syndrome is hypothesized to be due to misidentification of self-derived nucleic acids as nons

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::771251eb6b388f0e1e12dad20dec87f3

Characterization of samhd1 Morphant Zebrafish Recapitulates Features of the Human Type I Interferonopathy Aicardi-Goutières Syndrome

Autor: Yanick J. Crow, Catherine Morrissey, Leo A. H. Zeef, Emma M. Jenkinson, Gillian I. Rice, Valérie Briolat, Jean-Pierre Levraud, David Gent, Paul R. Kasher

Publikováno v: Journal of Immunology
Journal of Immunology, Publisher : Baltimore : Williams & Wilkins, c1950-. Latest Publisher : Bethesda, MD : American Association of Immunologists, 2015, 194 (6), pp.2819-2825. ⟨10.4049/jimmunol.1403157⟩
Journal of Immunology, 2015, 194 (6), pp.2819-2825. ⟨10.4049/jimmunol.1403157⟩

In humans, loss of function mutations in the SAMHD1 (AGS5) gene cause a severe form of Aicardi-Goutières syndrome (AGS), an inherited inflammatory-mediated encephalopathy characterized by increased type I IFN activity and upregulation of IFN-stimula

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13597b059fe027c73b6fffeb22c26201
https://hal-pasteur.archives-ouvertes.fr/pasteur-02558343

In vivo profiling of focal cortical dysplasia on high-resolution MRI with computational models

Autor: Neda Bernasconi, Andrea Bernasconi, Olivier Colliot, V. Naessens, Samson B. Antel

Publikováno v: Epilepsia
Epilepsia, Wiley, 2006, 47 (1), pp.134-42
HAL

International audience; On MRI, focal cortical dysplasia (FCD) is characterized by a combination of increased cortical thickness, hyperintense signal within the dysplastic lesion, and blurred transition between gray and white matter (GM-WM). The visu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3f78b40145431423bc4d5cc4011097b
https://hal.inria.fr/hal-01259128