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

Autosomal Recessive Cerebellar Ataxias With Elevated Alpha‐Fetoprotein: Uncommon Diseases, Common Biomarker

Autor: Mathilde Renaud, Christine Tranchant, Michel Koenig, Mathieu Anheim

Publikováno v: Movement Disorders
Movement Disorders, Wiley, 2020, 35 (12), pp.2139-2149. ⟨10.1002/mds.28307⟩
Movement Disorders, 2020, 35 (12), pp.2139-2149. ⟨10.1002/mds.28307⟩

International audience; alpha-Fetoprotein (AFP) is a biomarker of several autosomal recessive cerebellar ataxias (ARCAs), especially ataxia telangiectasia (AT) and ataxia with oculomotor apraxia (AOA) type 2 (AOA2). More recently, slightly elevated A

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72cb360314d2b4034160d84b80cc3f3f
https://doi.org/10.1002/mds.28307

Nucleus-translocated mitochondrial cytochrome c liberates nucleophosmin-sequestered ARF tumor suppressor by changing nucleolar liquid-liquid phase separation

Autor: Katiuska González-Arzola, Antonio Díaz-Quintana, Noelia Bernardo-García, Jonathan Martínez-Fábregas, Francisco Rivero-Rodríguez, Miguel Á. Casado-Combreras, Carlos A. Elena-Real, Alejandro Velázquez-Cruz, Sergio Gil-Caballero, Adrián Velázquez-Campoy, Elzbieta Szulc, María P. Gavilán, Isabel Ayala, Rocío Arranz, Rosa M. Ríos, Xavier Salvatella, José M. Valpuesta, Juan A. Hermoso, Miguel A. De la Rosa, Irene Díaz-Moreno

Publikováno v: Nature Structural and Molecular Biology
Nature Structural and Molecular Biology, 2022, 29 (10), pp.1024-1036. ⟨10.1038/s41594-022-00842-3⟩

32 pags., 17 figs., 1 tab.
The regular functioning of the nucleolus and nucleus-mitochondria crosstalk are considered unrelated processes, yet cytochrome c (Cc) migrates to the nucleus and even the nucleolus under stress conditions. Nucleolar li

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36cb3e329ebef7869463bbf9e4fbdbc1
https://pubmed.ncbi.nlm.nih.gov/36220893

Epidemiology and Genetic Variability of HHV-8/KSHV among Rural Populations and Kaposi’s Sarcoma Patients in Gabon, Central Africa. Review of the Geographical Distribution of HHV-8 K1 Genotypes in Africa

Autor: Antony Idam Mamimandjiami, Augustin Mouinga-Ondémé, Jill-Léa Ramassamy, Délia Doreen Djuicy, Philippe V. Afonso, Antoine Mahé, Jean-Bernard Lekana-Douki, Olivier Cassar, Antoine Gessain

Publikováno v: Viruses
Viruses, MDPI, 2021, Special Issue Viral Genetic Diversity, 13 (2), pp.175. ⟨10.3390/v13020175⟩
Volume 13
Issue 2
Viruses, 2021, Special Issue Viral Genetic Diversity, 13 (2), pp.175. ⟨10.3390/v13020175⟩
Viruses, Vol 13, Iss 175, p 175 (2021)

Human herpesvirus 8 (HHV-8) is the etiological agent of all forms of Kaposi&rsquo
s sarcoma (KS). K1 gene studies have identified five major molecular genotypes with geographical clustering. This study described the epidemiology of HHV-8 and its

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::38d8d317a4304d4f92b1d832a3bad5c2
https://hal-pasteur.archives-ouvertes.fr/pasteur-03208011/document

Influenza A virus co-opts ERI1 exonuclease bound to histone mRNA to promote viral transcription

Autor: Cyril Barbezange, Sylvie van der Werf, Yves Jacob, Caroline Demeret, Elise Biquand, Natalia Pietrosemoli, Marwah Karim, Marion Declercq

Publikováno v: Nucleic Acids Research
Nucleic Acids Research, Oxford University Press, 2020, 48 (18), pp.10428-10440. ⟨10.1093/nar/gkaa771⟩
Nucleic Acids Research, 2020, 48 (18), pp.10428-10440. ⟨10.1093/nar/gkaa771⟩

Cellular exonucleases involved in the processes that regulate RNA stability and quality control have been shown to restrict or to promote the multiplication cycle of numerous RNA viruses. Influenza A viruses are major human pathogens that are respons

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34f5df11866bf7e157b8b2ce64c9171d
https://hal-pasteur.archives-ouvertes.fr/pasteur-03113762/document