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

Single-cytosine methylation at W-boxes repels binding of WRKY transcription factors through steric hindrance

Autor: Magali Charvin, Thierry Halter, Romain Blanc-Mathieu, Pierre Barraud, Magali Aumont-Nicaise, François Parcy, Lionel Navarro

Publikováno v: Plant Physiology
Plant Physiology, 2023, 192 (1), pp.77-84. ⟨10.1093/plphys/kiad069⟩

DNA methylation is an epigenetic mark that fine-tunes gene expression, notably by negatively or positively regulating transcription factor (TF)-DNA binding. In plants, DNA methylation has primarily been shown to inhibit TF-DNA binding. However, littl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7cddfafd797eae3befdcb62bba96afdc
https://hal.science/hal-04097425/document

The coordinated replication of Vibrio cholerae’s two chromosomes required the acquisition of a unique domain by the RctB initiator

Autor: Fournes, Florian, Niault, Theophile, Czarnecki, Jakub, Tissier-Visconti, Alvise, Mazel, Didier, Val, Marie-Eve

Publikováno v: Nucleic Acids Research
Nucleic Acids Research, 2021, 49 (19), pp.11119-11133. ⟨10.1093/nar/gkab903⟩
Nucleic Acids Research, Oxford University Press, 2021, 49 (19), pp.11119-11133. ⟨10.1093/nar/gkab903⟩

International audience; Vibrio cholerae, the pathogenic bacterium that causes cholera, has two chromosomes (Chr1, Chr2) that replicate in a well-orchestrated sequence. Chr2 initiation is triggered only after the replication of the crtS site on Chr1.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::78989246a70ed6b9797197547822388d
http://europepmc.org/articles/PMC8565311

Identification of altered cell signaling pathways using proteomic profiling in stable and progressive chronic lymphocytic leukemia

Autor: Christelle Le Dantec, Cristina Adela Iuga, Ioana-Ecaterina Pralea, Melanie Cornen, Wesley H. Brooks, Jacques-Olivier Pers, Hussam Saad, Tiffany Bergot, Adrian Tempescul, Anne Bordron, Delphine G. Bernard, Jean-Christophe Ianotto, Cristina Bagacean, Mihnea Zdrenghea, Christian Berthou, Yves Renaudineau

Publikováno v: Journal of Leukocyte Biology
Journal of Leukocyte Biology, 2022, 111 (2), pp.313-325. ⟨10.1002/JLB.4HI0620-392R⟩

Chronic lymphocytic leukemia (CLL) is characterized by significant biologic and clinical heterogeneity. This study was designed to explore CLL B-cells’ proteomic profile in order to identify biologic processes affected at an early stage and during

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89c0e8a083104e71222aa68c222ad12b
https://doi.org/10.1002/jlb.4hi0620-392r

Inferring and analyzing gene regulatory networks from multi-factorial expression data: a complete and interactive suite

Autor: Océane Cassan, Sophie Lèbre, Antoine Martin

Publikováno v: BMC Genomics, Vol 22, Iss 1, Pp 1-15 (2021)
BMC Genomics
BMC Genomics, BioMed Central, 2021, 22 (1), pp.387. ⟨10.1186/s12864-021-07659-2⟩

Background High-throughput transcriptomic datasets are often examined to discover new actors and regulators of a biological response. To this end, graphical interfaces have been developed and allow a broad range of users to conduct standard analyses

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8fdcaf550c523b3077b7a3ac37389c7
https://doaj.org/article/00a18c8eb72c436192022653058f0c61