Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome-Reference-Cited by-同舟云学术

Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome

Published:2011-05-29 Issue:6 Volume:17 Page:726-731
ISSN:1078-8956
Container-title:Nature Medicine
language:en
Short-container-title:Nat Med

Author:

Lancaster Madeline A,Gopal Dipika J,Kim Joon,Saleem Sahar N,Silhavy Jennifer L,Louie Carrie M,Thacker Bryan E,Williams Yuko,Zaki Maha S,Gleeson Joseph G

Publisher

Springer Science and Business Media LLC

Subject

General Biochemistry, Genetics and Molecular Biology,General Medicine

Link

http://www.nature.com/articles/nm.2380.pdf

Reference40 articles.

1. Badano, J.L., Mitsuma, N., Beales, P.L. & Katsanis, N. The ciliopathies: an emerging class of human genetic disorders. Annu. Rev. Genomics Hum. Genet. 7, 125–148 (2006).

2. Joubert, M., Eisenring, J.J., Robb, J.P. & Andermann, F. Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia and retardation. Neurology 19, 813–825 (1969).

3. Louie, C.M. & Gleeson, J.G. Genetic basis of Joubert syndrome and related disorders of cerebellar development. Hum. Mol. Genet. 14 Suppl. 2, R235–R242 (2005).

4. Dixon-Salazar, T. et al. Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria. Am. J. Hum. Genet. 75, 979–987 (2004).

5. Ferland, R.J. et al. Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome. Nat. Genet. 36, 1008–1013 (2004).

Cited by 137 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A class I PI3K signalling network regulates primary cilia disassembly in normal physiology and disease;Nature Communications;2024-08-21

2. A differential requirement for ciliary transition zone proteins in human and mouse neural progenitor fate specification;2024-03-02

3. Shared and unique consequences of Joubert Syndrome gene dysfunction on the zebrafish central nervous system;2024-02-15

4. PTCH1-mutant human cerebellar organoids exhibit altered neural development and recapitulate early medulloblastoma tumorigenesis;Disease Models & Mechanisms;2024-02-01

5. Super-Resolution Fluorescence Microscopy for Cilia Investigation and Ciliopathy Diagnosis (Invited);Laser & Optoelectronics Progress;2024