日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Further delineation of the SCAF4-associated neurodevelopmental disorder

进一步阐明SCAF4相关神经发育障碍

Schmid, Cosima M; Gregor, Anne; Ruiz, Anna; Manso Bazús, Carmen; Herman, Isabella; Ammouri, Farah; Kotzaeridou, Urania; McNiven, Vanda; Dupuis, Lucie; Steindl, Katharina; Begemann, Anaïs; Rauch, Anita; Suter, Aude-Annick; Isidor, Bertrand; Mercier, Sandra; Nizon, Mathilde; Cogné, Benjamin; Deb, Wallid; Besnard, Thomas; Haack, Tobias B; Falb, Ruth J; Müller, Amelie J; Linden, Tobias; Haldeman-Englert, Chad R; Ockeloen, Charlotte W; Mattioli, Francesca; Reymond, Alexandre; Ibrahim, Nazia; Naz, Shagufta; Lacaze, Elodie; Bassetti, Jennifer A; Hoefele, Julia; Brunet, Theresa; Riedhammer, Korbinian M; Elloumi, Houda Z; Person, Richard; Zou, Fanggeng; Kahle, Juliette J; Cremer, Kirsten; Schmidt, Axel; Delrue, Marie-Ange; Almeida, Pedro M; Ramos, Fabiana; Srivastava, Siddharth; Quinlan, Aisling; Robertson, Stephen; Manka, Eva; Kuechler, Alma; Spranger, Stephanie; Nowaczyk, Malgorzata J M; Elshafie, Reem M; Alsharhan, Hind; Hillman, Paul R; Dunnington, Leslie A; Braakman, Hilde M H; McKee, Shane; Moresco, Angelica; Ignat, Andrea-Diana; Newbury-Ecob, Ruth; Banneau, Guillaume; Patat, Olivier; Kuerbitz, Jeffrey; Rzucidlo, Susan; Sell, Susan S; Gordon, Patricia; Schuhmann, Sarah; Reis, André; Halleb, Yosra; Stoeva, Radka; Keren, Boris; Al Masseri, Zainab; Tümer, Zeynep; Hammer-Hansen, Sophia; Krüger Sølyst, Sofus; Steigerwald, Connolly G; Abreu, Nicolas J; Faust, Helene; Müller-Nedebock, Amica; Tran Mau-Them, Frédéric; Sticht, Heinrich; Zweier, Christiane

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

KARS1基因的双等位基因变异与神经发育障碍和听力损失相关,这种现象在斑马鱼基因敲除模型中得到了重现。

Lin, Sheng-Jia; Vona, Barbara; Barbalho, Patricia G; Kaiyrzhanov, Rauan; Maroofian, Reza; Petree, Cassidy; Severino, Mariasavina; Stanley, Valentina; Varshney, Pratishtha; Bahena, Paulina; Alzahrani, Fatema; Alhashem, Amal; Pagnamenta, Alistair T; Aubertin, Gudrun; Estrada-Veras, Juvianee I; Hernández, Héctor Adrián Díaz; Mazaheri, Neda; Oza, Andrea; Thies, Jenny; Renaud, Deborah L; Dugad, Sanmati; McEvoy, Jennifer; Sultan, Tipu; Pais, Lynn S; Tabarki, Brahim; Villalobos-Ramirez, Daniel; Rad, Aboulfazl; Galehdari, Hamid; Ashrafzadeh, Farah; Sahebzamani, Afsaneh; Saeidi, Kolsoum; Torti, Erin; Elloumi, Houda Z; Mora, Sara; Palculict, Timothy B; Yang, Hui; Wren, Jonathan D; Ben Fowler; Joshi, Manali; Behra, Martine; Burgess, Shawn M; Nath, Swapan K; Hanna, Michael G; Kenna, Margaret; Merritt, J Lawrence 2nd; Houlden, Henry; Karimiani, Ehsan Ghayoor; Zaki, Maha S; Haaf, Thomas; Alkuraya, Fowzan S; Gleeson, Joseph G; Varshney, Gaurav K

NFIL3 is a regulator of IL-12 p40 in macrophages and mucosal immunity

NFIL3是巨噬细胞和黏膜免疫中IL-12 p40的调节因子。

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

Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia

常染色体显性遗传和散发性单核细胞减少症,易感分枝杆菌、真菌、乳头瘤病毒和骨髓增生异常综合征

Vinh, Donald C; Patel, Smita Y; Uzel, Gulbu; Anderson, Victoria L; Freeman, Alexandra F; Olivier, Kenneth N; Spalding, Christine; Hughes, Stephen; Pittaluga, Stefania; Raffeld, Mark; Sorbara, Lynn R; Elloumi, Houda Z; Kuhns, Douglas B; Turner, Maria L; Cowen, Edward W; Fink, Danielle; Long-Priel, Debra; Hsu, Amy P; Ding, Li; Paulson, Michelle L; Whitney, Adeline R; Sampaio, Elizabeth P; Frucht, David M; DeLeo, Frank R; Holland, Steven M

Virulence and cellular interactions of Burkholderia multivorans in chronic granulomatous disease

多食伯克霍尔德菌在慢性肉芽肿病中的毒力和细胞相互作用

Zelazny, Adrian M; Ding, Li; Elloumi, Houda Z; Brinster, Lauren R; Benedetti, Fran; Czapiga, Meggan; Ulrich, Ricky L; Ballentine, Samuel J; Goldberg, Joanna B; Sampaio, Elizabeth P; Holland, Steven M

Impaired T(H)17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome.

常染色体显性高IgE综合征患者的T(H)17细胞分化受损

Milner Joshua D, Brenchley Jason M, Laurence Arian, Freeman Alexandra F, Hill Brenna J, Elias Kevin M, Kanno Yuka, Spalding Christine, Elloumi Houda Z, Paulson Michelle L, Davis Joie, Hsu Amy, Asher Ava I, O'Shea John, Holland Steven M, Paul William E, Douek Daniel C

Mycobacterium abscessus and M. avium trigger Toll-like receptor 2 and distinct cytokine response in human cells

脓肿分枝杆菌和鸟分枝杆菌可触发人类细胞中的 Toll 样受体 2 和不同的细胞因子反应。

Sampaio, Elizabeth P; Elloumi, Houda Z; Zelazny, Adrian; Ding, Li; Paulson, Michelle L; Sher, Alan; Bafica, Andre L; Shea, Yvonne R; Holland, Steven M