De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay

Autor: Paul Kruszka, Sreehari Kalvakuri, Austin Larson, Dong Li, Inge van Outersterp, Florence Demurger, Ian Hayes, F. Lucy Raymond, Lauren J. Massingham, Claudia A. L. Ruivenkamp, Ian D. Krantz, Kendra Brunet, Nicole Revencu, Maaike Vreeburg, Donatella Milani, Tjitske Kleefstra, Lisenka E.L.M. Vissers, Maximilian Muenke, Sinje Geuer, Candace Gamble, Rolf Bodmer, Hanka Venselaar, Elke de Boer, Sarina G. Kant, Dilys Weijers, Arjan P.M. de Brouwer, Machteld M. Oud, Maria Iascone, Christopher C. Griffith, Frédéric Tran Mau-Them, Karin Weiss, Megan T. Cho, Ayesha Ahmad, James A. Bartley, Nina Powell Hamilton, Lenika De Simone, George E. Hoganson, Lucie Evenepoel, Simone Kersten, Daniel L. Polla, Himanshu Goel, Antonio Vitobello, Rachel Fisher, Arthur Sorlin, Sébastien Moutton, Myrthe van den Born, Hilary J. Vernon, Michael Kwint, Kaitlyn Burns, Anna Ruiz, Kirsty McWalter, Jenny Morton, Jennifer Schwab, Elizabeth J. Bhoj, Philippe Christophe, Hans van Bokhoven, Elisabeth Gabau, Kimberly M. Nugent, Jill R. Murrell, Thierry Billette de Villemeur, Kathleen Wood, Alexandra Afenjar, Amber Begtrup, Chanika Phornphutkul, Sarah E. Raible, Melde Witmond, Perrine Charles, Claudia Soler-Alfonso, D. Isum Ward, Marjolaine Willems, Boris Keren, Julian Delanne

Publikováno v: Am J Hum Genet
American journal of human genetics, Vol. 107, no.1, p. 164-172 (2020)
American Journal of Human Genetics, 107(1), 164-172. Cell Press
American Journal of Human Genetics, 107(1), 164-172. CELL PRESS
The American Journal of Human Genetics
American Journal of Human Genetics, 107, 164-172
American Journal of Human Genetics, 107, 1, pp. 164-172

Contains fulltext : 220423.pdf (Publisher’s version ) (Closed access) CNOT1 is a member of the CCR4-NOT complex, which is a master regulator, orchestrating gene expression, RNA deadenylation, and protein ubiquitination. We report on 39 individuals

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::006da9edc9adc505442f388151f9f1a2
https://pubmed.ncbi.nlm.nih.gov/32553196

KIF1B and NF1 are the most frequently mutated genes in paraganglioma and pheochromocytoma tumors

Autor: Alexandre Persu, Marc Hamoir, Dominique Maiter, Laurent Vroonen, Miikka Vikkula, Raphaël Helaers, Lucie Evenepoel, Selda Aydin

Publikováno v: Endocrine-Related Cancer. 24:L57-L61

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::47ac205c2fc8d8f7be0e4ebcc9a0a6dc
https://doi.org/10.1530/erc-17-0061

Toward an improved definition of the genetic and tumor spectrum associated with SDH germ-line mutations

Autor: Lucie Evenepoel, Thomas G. Papathomas, Esther Korpershoek, Winand N.M. Dinjens, Niels M.G. Krol, Alexandre Persu, Ronald R. de Krijger

Publikováno v: Genetics in Medicine, 17(8), 610-620. Lippincott Williams & Wilkins
Genetics in Medicine, 17(8), 610. Lippincott Williams and Wilkins

The tricarboxylic acid, or Krebs, cycle is central to the cellular metabolism of sugars, lipids, and amino acids; it fuels the mitochondrial respiratory chain for energy generation. In the past decade, mutations in the Krebs-cycle enzymes succinate d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1818da42b03be12f590b307183bfbd69
https://pure.eur.nl/en/publications/830dd9ad-9bc0-467a-9151-6d5c5c38090c

6C.05

Autor: Alexandre Persu, Antonella Mendola, Miikka Vikkula, Jan A. Staessen, Lucie Evenepoel, Yu Jin

Publikováno v: Journal of Hypertension. 33:e80

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::2080848ed1502decf279123010d5ad8a
https://doi.org/10.1097/01.hjh.0000467569.10961.69