Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder

Source
Genetics in medicine - ISSN 1530-0366-24:7 (2022) p. 1583-1591
Author(s)
    Marije Meuwissen, Aline Verstraeten, Emmanuelle Ranza, Justyna Iwaszkiewicz, Maaike Bastiaansen, Ligia Mateiu, Merlijn Nemegeer, Josephina Meester, Alexandra Afenjar, Michelle Amaral, Diana Ballhausen, Sarah Barnett, Magalie Barth, Bob Asselbergh, Katrien Spaas, Bavo Heeman, Jennifer Bassetti, Patrick Blackburn, Marie Schaer, Xavier Blanc, Vincent Zoete, Kari Casas, Thomas Courtin, Diane Doummar, Frédéric Guerry, Boris Keren, John Pappas, Rachel Rabin, Amber Begtrup, Marwan Shinawi, Anneke T Vulto-van Silfhout, Tjitske Kleefstra, Matias Wagner, Alban Ziegler, Elise Schaefer, Benedicte Gerard, Charlotte I De Bie, Sjoerd J B Holwerda, Mary Alice Abbot, Stylianos E Antonarakis, Bart Loeys

Shared brain transcriptomic signature in TDP-43 type A FTLD patients with or without GRN mutations

Source
Brain - ISSN 0006-8950-145:7 (2022) p. 2472-2485
Author(s)
    Cyril Pottier, Ligia Mateiu, Matthew C. Baker, Mariely DeJesus-Hernandez, Cristina Vicente, NiCole A. Finch, Shulan Tian, Marka van Blitterswijk, Melissa E. Murray, Yingxue Ren, Leonard Petrucelli, Björn Oskarsson, Joanna M. Biernacka, Neill R. Graff-Radford, Bradley F. Boeve, Ronald C. Petersen, Keith A. Josephs, Yan W. Asmann, Dennis W. Dickson, Rosa Rademakers

The role of endothelial autocrine NRG1/ERBB4 signaling in cardiac remodeling

Source
American journal of physiology : heart and circulatory physiology - ISSN 0363-6135-319:2 (2020) p. H443-H455
Author(s)

Transcriptional dysregulation by a nucleus-localized aminoacyl-tRNA synthetase associated with Charcot-Marie-Tooth neuropathy

Source
Nature communications - ISSN 2041-1723-10 (2019) p.
Author(s)