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

Gene discovery for motile cilia disorders: mutation spectrum in primary ciliary dyskinesia and discovery of mutations in CCDC151

纤毛运动障碍的基因发现:原发性纤毛运动障碍的突变谱及CCDC151基因突变的发现

Loveless, R W; Griffiths, S; Fryer, P R; Blauth, C; Feizi, T; Onoufriadis, A; Hjeij, R; Watson, CM; Slagle, CE; Klena, NT; Dougherty, GW; Kurkowiak, M; Loges, NT; Diggle, CP; Morante, NF; Gabriel, GC; Lemke, KL; Li, Y; Pennekamp, P; Menchen, T; Marthin, JK; Mans, D; Letteboer, SJ; Werner, C; Burgoyne, T; Westermann, C; Rutman, A; Carr, IM; O'Callaghan, C; Moya, E; Chung, EMK; Sheridan, E; Nielsen, KG; Roepman, R; Burdine, RD; Lo, CW; Omran, H; Mitchison, H

Mutations in CCDC39 and CCDC40 are a major cause of primary ciliary dyskinesia with microtubule disorganisation

CCDC39 和 CCDC40 基因突变是原发性纤毛运动障碍伴微管紊乱的主要原因。

Liu, Luke L; Fame, Ryann M; Grampa, V; Delous, M; Silbermann, F; Oyde, G; Krug, P; Filhol, E; Alessandri, JL; Sigaudy, S; Bouvier, R; Zabot, MT; Antignac, C; Gubler, M; Attié-Bitach, T; Benmerah, A; Jeanpierre, C; Saunier, S; Lu, Q; Koutroumpas, K; Boldt, K; Reeuwijk, J Van; Katsanis, N; Képès, F; Roepman, R; Ueffing, M; Russell, RB; Robson, E; Moya, E; Burgoyne, T; Chetcuti, P; Dixon, M; Hirst, R; Hogg, C; Mitchison, H; O'Callaghan, C; Onoufriadis, A; Patel, M; Rutman, A; Sheridan, E; Shoemark, A; Kunimoto, K; Yamazaki, YY; Nishida, TN; Shinohara, KS; Ishikawa, HI; Hasegawa, TH; Okanoue, TO; Hamada, HH; Noda, TN; Tamura, AT; Tsukita, ST Shoichiro; Antony, D; Becker-Heck, A; Forouhan, M; Schmidts, M; Onoufriadis, A; Shoemark, A; Dixon, M; Jackson, C; Goggin, P; Olbrich, H; O’Callaghan, C; Lucas, J; Hogg, C; Chung, EMK; Omran, H; Mitchison, HM

Mutations in the dynein assembly factor PF22 (DNAAF3) cause primary ciliary dyskinesia with absent dynein arms

动力蛋白组装因子PF22(DNAAF3)的突变会导致原发性纤毛运动障碍,并伴有动力蛋白臂缺失。

Dawe, Helen R; Adams, Matthew; Wheway, Gabrielle; Szymanska, Katarzyna; Logan, Clare V; Noegel, Angelika A; Gull, Keith; Johnson, Colin A; Schmidts, M; Freshour, J; Loges, NT; Dritsoula, A; Antony, D; Hirst, RA; O’Callaghan, C; Blau, H; Olbrich, H; Yagi, T; Mussaffi, H; Chung, EMK; Omran, H; Mitchell, DR; Mitchison, H