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

Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization

TRAF3IP1/IFT54 突变揭示 IFT 蛋白在微管稳定中的新作用

Albane A Bizet, Anita Becker-Heck, Rebecca Ryan, Kristina Weber, Emilie Filhol, Pauline Krug, Jan Halbritter, Marion Delous, Marie-Christine Lasbennes, Bolan Linghu, Edward J Oakeley, Mohammed Zarhrate, Patrick Nitschké, Meriem Garfa-Traore, Fabrizio Serluca, Fan Yang, Tewis Bouwmeester, Lucile Pins

Tau tubulin kinase 2 is required to initiate mammalian ciliogenesis

Tau微管蛋白激酶2是启动哺乳动物纤毛发生所必需的。

Novarino, Gaia; Akizu, Naiara; Gleeson, Joseph G; Becker-Heck, A; Bizet, A; Ryan, R; Krug, P; Filhol, E; Linghu, B; Oakeley, E; Serluca, F; Legendre, F; Dörner, N; Lasbennes, MC; Duca, J; Yang, F; Damask, A; Klickstein, L; Labow, M; Schebesta, M; Bouwmeester, T; Valette, H; Pinson, L; Goubaux, B; Dubot, P; Salomon, R; Antignac, C; Gubler, M; Jeanpierre, C; Chibout, S; Bole-Feysot, C; Nitschké, P; Benmerah, A; Szustakowski, JD; Sailer, AW; Saunier, S; Saint-Mezard, P; Goetz, S; Anderson, KV

CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms

CCDC103基因突变通过破坏纤毛动力蛋白臂的组装而导致原发性纤毛运动障碍。

Panizzi, Jennifer R; Becker-Heck, Anita; Castleman, Victoria H; Al-Mutairi, Dalal A; Liu, Yan; Loges, Niki T; Pathak, Narendra; Austin-Tse, Christina; Sheridan, Eamonn; Schmidts, Miriam; Olbrich, Heike; Werner, Claudius; Häffner, Karsten; Hellman, Nathan; Chodhari, Rahul; Gupta, Amar; Kramer-Zucker, Albrecht; Olale, Felix; Burdine, Rebecca D; Schier, Alexander F; O'Callaghan, Christopher; Chung, Eddie M K; Reinhardt, Richard; Mitchison, Hannah M; King, Stephen M; Omran, Heymut; Drummond, Iain A

Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure

DNAH11基因突变与纤毛超微结构正常的原发性纤毛运动障碍患者相关

Knowles, Michael R; Leigh, Margaret W; Carson, Johnny L; Davis, Stephanie D; Dell, Sharon D; Ferkol, Thomas W; Olivier, Kenneth N; Sagel, Scott D; Rosenfeld, Margaret; Burns, Kimberlie A; Minnix, Susan L; Armstrong, Michael C; Lori, Adriana; Hazucha, Milan J; Loges, Niki T; Olbrich, Heike; Becker-Heck, Anita; Schmidts, Miriam; Werner, Claudius; Omran, Heymut; Zariwala, Maimoona A

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

Nasal exhaled nitric oxide measurements on British Asian children with confirmed Primary Ciliary Dyskinesia

对确诊患有原发性纤毛运动障碍的英国亚裔儿童进行鼻呼出气一氧化氮测量

Fa, Jia-Rong; Yo, Li-Ru; Wang, Won-Jing; Huang, Wei-Syun; Chu, Ching-Tung; Chi, Ya-Hui; Chen, Hong-Chen; Delalande, JM; Campbell, AM; Thapar, N; Burns, AJ; Basten, S; Haidari, K; Slaats, G; Steensel van, M; Giles, R; Hjeij, R; Loges, NT; Becker-Heck, A; Omran, H; Semple, RK; Chen, J-H; Paisey, RB; Barrett, TG; Hales, M; Turner, E; Balain, M; Moya, EF; Dawson, P

CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs

CCDC39是人类和犬体内动力蛋白内臂和动力蛋白调节复合物组装以及正常纤毛运动所必需的。

Merveille, Anne-Christine; Davis, Erica E; Becker-Heck, Anita; Legendre, Marie; Amirav, Israel; Bataille, Géraldine; Belmont, John; Beydon, Nicole; Billen, Frédéric; Clément, Annick; Clercx, Cécile; Coste, André; Crosbie, Rachelle; de Blic, Jacques; Deleuze, Stephane; Duquesnoy, Philippe; Escalier, Denise; Escudier, Estelle; Fliegauf, Manfred; Horvath, Judith; Hill, Kent; Jorissen, Mark; Just, Jocelyne; Kispert, Andreas; Lathrop, Mark; Loges, Niki Tomas; Marthin, June K; Momozawa, Yukihide; Montantin, Guy; Nielsen, Kim G; Olbrich, Heike; Papon, Jean-François; Rayet, Isabelle; Roger, Gilles; Schmidts, Miriam; Tenreiro, Henrique; Towbin, Jeffrey A; Zelenika, Diana; Zentgraf, Hanswalter; Georges, Michel; Lequarré, Anne-Sophie; Katsanis, Nicholas; Omran, Heymut; Amselem, Serge

The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation

含有卷曲螺旋结构域的蛋白质CCDC40对于纤毛运动功能和左右轴的形成至关重要。

Becker-Heck, Anita; Zohn, Irene E; Okabe, Noriko; Pollock, Andrew; Lenhart, Kari Baker; Sullivan-Brown, Jessica; McSheene, Jason; Loges, Niki T; Olbrich, Heike; Haeffner, Karsten; Fliegauf, Manfred; Horvath, Judith; Reinhardt, Richard; Nielsen, Kim G; Marthin, June K; Baktai, Gyorgy; Anderson, Kathryn V; Geisler, Robert; Niswander, Lee; Omran, Heymut; Burdine, Rebecca D

Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects

LRRC50基因的缺失和点突变会导致动力蛋白臂缺陷,从而引起原发性纤毛运动障碍。

Loges, Niki Tomas; Olbrich, Heike; Becker-Heck, Anita; Häffner, Karsten; Heer, Angelina; Reinhard, Christina; Schmidts, Miriam; Kispert, Andreas; Zariwala, Maimoona A; Leigh, Margaret W; Knowles, Michael R; Zentgraf, Hanswalter; Seithe, Horst; Nürnberg, Gudrun; Nürnberg, Peter; Reinhardt, Richard; Omran, Heymut

Cilia of a Distinctive Structure (9 + 0) in Endocrine and other Tissues

内分泌及其他组织中具有独特结构的纤毛(9+0)

Antony, Dinu; Becker-Heck, Anita; Zariwala, Maimoona A; Schmidts, Miriam; Onoufriadis, Alexandros; Forouhan, Mitra; Wilson, Robert; Taylor-Cox, Theresa; Dewar, Ann; Jackson, Claire; Goggin, Patricia; Loges, Niki T; Olbrich, Heike; Jaspers, Martine; Jorissen, Mark; Leigh, Margaret W; Wolf, Whitney E; Daniels, M Leigh Anne; Noone, Peadar G; Ferkol, Thomas W; Sagel, Scott D; Rosenfeld, Margaret; Rutman, Andrew; Dixit, Abhijit; O'Callaghan, Christopher; Lucas, Jane S; Hogg, Claire; Scambler, Peter J; Emes, Richard D; Chung, Eddie M K; Shoemark, Amelia; Knowles, Michael R; Omran, Heymut; Mitchison, Hannah M; Currie, A R; Wheatley, D N