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

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

Nephrocystins play a crucial role in renal epithelial morphogenesis via the regulation of Wnt/PCP components Dishevelled and Rho GTPases

肾囊蛋白通过调节 Wnt/PCP 成分 Dishevelled 和 Rho GTP 酶,在肾上皮形态发生中发挥关键作用。

Worley, L G; Alvarez-Satta, M; Chiara, L De; Castro-Sánchez, S; Valverde, D; Schock, EN; Chang, CF; Struve, JN; Chang, J; Brugmann, SA; Falk, N; Kessler, K; Glöckner, J; Boldt, K; Ueffing, M; Roepman, R; Thiel, C; Brandstätter, JH; Gießl, A; Abdelhamed, Z; Natarajan, S; Inglehearn, C; Toomes, C; Johnson, C; Jagger, D; Lindbæk, L; Warzecha, CB; Koefoed, K; Mogensen, JB; Schmid, F; Pedersen, LB; Larsen, LA; Christensen, S; Blanchon, S; Bassinet, L; Beydon, N; Clément, A; Escudier, E; Papon, JF; Tamalet, A; Lucas, JS; Botting, NJ; DunnGalvin, A; Copeland, F; Barrett, T; Farmer, A; Aymé, S; Maffei, P; McCafferty, S; Mlynarski, W; Nunes, V; Paquis, V; Parkinson, K; Rohayem, J; Sinnott, R; Tillmann, V; Tranebjaerg, L; Cormier-Daire, V; Huber, C; Baujat, J; Caumes, R; Kayirangwa, H; Le Merrer, M; Le Quan Sang, KH; Munnich, A; Saunier, S; Gaudé, HM; Montjean, R; Silbermann, F; Grampa, V; Burcklé, C; Montenont, E; Delous, M; Vesque, C; Jeanpierre, C; Antignac, C; Terzi, F; Schneider-Maunoury, S

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

PI3K class II α: a novel regulator of vesicular trafficking at the base of the primary cilium

PI3K II类α:初级纤毛基部囊泡运输的新型调节因子

Meeks, M; Walne, A; Spiden, S; Simpson, H; Mussaffi-Georgy, H; Hamam, H D; Fehaid, E L; Cheehab, M; Al-Dabbagh, M; Polak-Charcon, S; Blau, H; O'Rawe, A; Mitchison, H M; Gardiner, R M; Chung, E; Collado-Hilly, M; Fisch, C; Desforges, B; Jerber, J; Combettes, L; Campillo, C; Dupuis-Williams, P; Trépout, S; Lemullois, M; Guichard, P; Koll, F; Aubusson-Fleury, A; Beisson, J; Cohen, J; Marco, S; Tassin, AM; Wann, AKT; Zuo, N; Haycraft, CJ; Jensen, CG; Poole, CA; McGlashan, SR; Knight, MM; Saunier, S; Bizet, AA; Silbermann, F; Filhol, E; Blisnick, T; Henneveu, A; Montenont, E; Perrault, I; Boyle-Feysot, C; Rozet, J-M; Bastin, P; Arts, HH; Antignac, C; Benmerah, AR; Franco, I; Gulluni, F; Costa, C; Margaria, JP; Campa, CC; De Luca, E; Monteyne, D; Pérez-Morga, D; Boletta, A; Ranghino, A; Merlo, GR; Hirsch, E

Mainzer-Saldino syndrome is a ciliopathy caused by mutations in the IFT140 gene

Mainzer-Saldino综合征是一种纤毛病,由IFT140基因突变引起。

Lee, Shin-Hyo; Ichii, Osamu; Otsuka, Saori; Elewa, Yaser Hosny Ali; Namiki, Yuka; Hashimoto, Yoshiharu; Kon, Yasuhiro; Perrault, I; Saunier, S; Hanein, S; Filhol, E; Bizet, A; Collins, F; Salih, M; Silva, E; Baudouin, V; Oud, M; Shannon, N; Le Merrer, M; Pietrement, C; Beales, P; Arts, H; Munnich, A; Kaplan, J; Antignac, C; Cormier Daire, V; Rozet, JM

Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts

对ARPKD患者队列中PKHD1突变进行全面的基因组分析

Sharp, A M; Messiaen, L M; Page, G; Antignac, C; Gubler, M-C; Onuchic, L F; Somlo, S; Germino, G G; Guay-Woodford, L M

The European renal genome project: an integrated approach towards understanding the genetics of kidney development and disease

欧洲肾脏基因组计划:一种理解肾脏发育和疾病遗传学的综合方法

Willnow, Te; Antignac, C; Brändli, Aw; Christensen, Ei; Cox, Rd; Davidson, D; Davies, Ja; Devuyst, O; Eichele, G; Hastie, Nd; Verroust, Pj; Schedl, A; Meij, Ic

Cystinosin, the protein defective in cystinosis, is a H(+)-driven lysosomal cystine transporter

胱氨酸蛋白(胱氨酸病中缺陷的蛋白质)是一种H(+)驱动的溶酶体胱氨酸转运蛋白。

Kalatzis, V; Cherqui, S; Antignac, C; Gasnier, B

Glomerular expression of type IV collagen chains in normal and X-linked Alport syndrome kidneys

正常肾脏和X连锁Alport综合征肾脏中IV型胶原链的肾小球表达

Heidet, L; Cai, Y; Guicharnaud, L; Antignac, C; Gubler, M C

Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations

芬兰型先天性肾病综合征(NPHS1)基因的结构及突变特征

Lenkkeri, U; Männikkö, M; McCready, P; Lamerdin, J; Gribouval, O; Niaudet, P M; Antignac C, K; Kashtan, C E; Homberg, C; Olsen, A; Kestilä, M; Tryggvason, K