Analysis of human samples reveals impaired SHH-dependent cerebellar development in Joubert syndrome/Meckel syndrome
出版年份 2012 全文链接
标题
Analysis of human samples reveals impaired SHH-dependent cerebellar development in Joubert syndrome/Meckel syndrome
作者
关键词
-
出版物
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
Volume 109, Issue 42, Pages 16951-16956
出版商
Proceedings of the National Academy of Sciences
发表日期
2012-10-02
DOI
10.1073/pnas.1201408109
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium
- (2012) Ji Eun Lee et al. NATURE GENETICS
- Mapping the NPHP-JBTS-MKS Protein Network Reveals Ciliopathy Disease Genes and Pathways
- (2011) Liyun Sang et al. CELL
- Modeling Human Disease in Humans: The Ciliopathies
- (2011) Gaia Novarino et al. CELL
- Cilia in the nervous system: linking cilia function and neurodevelopmental disorders
- (2011) Ji E Lee et al. CURRENT OPINION IN NEUROLOGY
- Centriolar satellites are assembly points for proteins implicated in human ciliopathies, including oral-facial-digital syndrome 1
- (2011) C. A. M. Lopes et al. JOURNAL OF CELL SCIENCE
- KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes
- (2011) Audrey Putoux et al. NATURE GENETICS
- A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition
- (2011) Francesc R Garcia-Gonzalo et al. NATURE GENETICS
- Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome
- (2011) Madeline A Lancaster et al. NATURE MEDICINE
- Ciliopathies: an expanding disease spectrum
- (2011) Aoife M. Waters et al. PEDIATRIC NEPHROLOGY
- Expression of Sonic Hedgehog During Cell Proliferation in the Human Cerebellum
- (2011) Parthiv Haldipur et al. STEM CELLS AND DEVELOPMENT
- The ciliary pocket: an endocytic membrane domain at the base of primary and motile cilia
- (2010) A. Molla-Herman et al. JOURNAL OF CELL SCIENCE
- The primary cilium: a signalling centre during vertebrate development
- (2010) Sarah C. Goetz et al. NATURE REVIEWS GENETICS
- Joubert Syndrome and related disorders
- (2010) Francesco Brancati et al. Orphanet Journal of Rare Diseases
- Transventricular delivery of Sonic hedgehog is essential to cerebellar ventricular zone development
- (2010) X. Huang et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- The nonmotile ciliopathies
- (2009) Jonathan L Tobin et al. GENETICS IN MEDICINE
- A Mouse Model for Meckel Syndrome Type 3
- (2009) S. A. Cook et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Dual and opposing roles of primary cilia in medulloblastoma development
- (2009) Young-Goo Han et al. NATURE MEDICINE
- Primary cilia are required for cerebellar development and Shh-dependent expansion of progenitor pool
- (2008) N. Spassky et al. DEVELOPMENTAL BIOLOGY
- CP110 Suppresses Primary Cilia Formation through Its Interaction with CEP290, a Protein Deficient in Human Ciliary Disease
- (2008) William Y. Tsang et al. DEVELOPMENTAL CELL
- CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium
- (2008) Joon Kim et al. HUMAN MOLECULAR GENETICS
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationFind the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
Search