Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish

Autor: Sheng-Jia Lin, Barbara Vona, Patricia G. Barbalho, Rauan Kaiyrzhanov, Reza Maroofian, Cassidy Petree, Mariasavina Severino, Valentina Stanley, Pratishtha Varshney, Paulina Bahena, Fatema Alzahrani, Amal Alhashem, Alistair T. Pagnamenta, Gudrun Aubertin, Juvianee I. Estrada-Veras, Héctor Adrián Díaz Hernández, Neda Mazaheri, Andrea Oza, Jenny Thies, Deborah L. Renaud, Sanmati Dugad, Jennifer McEvoy, Tipu Sultan, Lynn S. Pais, Brahim Tabarki, Daniel Villalobos-Ramirez, Aboulfazl Rad, J.C. Ambrose, P. Arumugam, M. Bleda, F. Boardman-Pretty, C.R. Boustred, H. Brittain, M.J. Caulfield, G.C. Chan, T. Fowler, A. Giess, A. Hamblin, S. Henderson, T.J.P. Hubbard, R. Jackson, L.J. Jones, D. Kasperaviciute, M. Kayikci, A. Kousathanas, L. Lahnstein, S.E.A. Leigh, I.U.S. Leong, F.J. Lopez, F. Maleady-Crowe, L. Moutsianas, M. Mueller, N. Murugaesu, A.C. Need, P. O‘Donovan, C.A. Odhams, C. Patch, D. Perez-Gil, M.B. Pereira, J. Pullinger, T. Rahim, A. Rendon, T. Rogers, K. Savage, K. Sawant, R.H. Scott, A. Siddiq, A. Sieghart, S.C. Smith, A. Sosinsky, A. Stuckey, M. Tanguy, E.R.A. Thomas, S.R. Thompson, A. Tucci, E. Walsh, M.J. Welland, E. Williams, K. Witkowska, S.M. Wood, Hamid Galehdari, Farah Ashrafzadeh, Afsaneh Sahebzamani, Kolsoum Saeidi, Erin Torti, Houda Z. Elloumi, Sara Mora, Timothy B. Palculict, Hui Yang, Jonathan D. Wren, null Ben Fowler, Manali Joshi, Martine Behra, Shawn M. Burgess, Swapan K. Nath, Michael G. Hanna, Margaret Kenna, J. Lawrence Merritt, Henry Houlden, Ehsan Ghayoor Karimiani, Maha S. Zaki, Thomas Haaf, Fowzan S. Alkuraya, Joseph G. Gleeson, Gaurav K. Varshney

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics. 23(10)

Pathogenic variants in Lysyl-tRNA synthetase 1 (KARS1) have increasingly been recognized as a cause of early-onset complex neurological phenotypes. To advance the timely diagnosis of KARS1-related disorders, we sought to delineate its phenotype and g

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91f3ae350cc512f0b956a6e8d9210c51
https://pubmed.ncbi.nlm.nih.gov/34172899

NFIL3 Is a Regulator of IL-12 p40 in Macrophages and Mucosal Immunity

Autor: Shehzad Z. Sheikh, Toshifumi Hibi, Katsuyoshi Matsuoka, Stephen T. Smale, Tadakazu Hisamatsu, Houda Z. Elloumi, Nobuhiko Kamada, Scott E. Plevy, Taku Kobayashi, Paul B. Rothman, Scott D. Pope, Jonathan J. Hansen, Kevin R. Doty, Masaki Kashiwada

Regulation of innate inflammatory responses against the enteric microbiota is essential for the maintenance of intestinal homeostasis. Key participants in innate defenses are macrophages. In these studies, the basic leucine zipper protein, NFIL3, is

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd970918a167f460c975e6de355b2195

S1756 The Bzip Protein E4bp4 Mediates IL-10 Regulation of Intestinal Macrophage Tolerance to the Enteric Microbiota

Autor: Taku Kobayashi, Katsuyoshi Matsuoka, Houda Z. Elloumi, Shehzad Z. Sheikh, Scott E. Plevy

Publikováno v: Gastroenterology. 138:S-267

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::bbd609a670db89892b51f8d6cb269144
https://doi.org/10.1016/s0016-5085(10)61226-7