SFX by Ex Libris Inc.

Title:	The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome
Source:	Nature Genetics [1061-4036] Delous, Marion yr:2007

Basic

Full text

Full text available via Nature

Year:

Volume:

Issue:

Start Page:

Document delivery

Request document via Library/Bibliothek

Users interested in this article also expressed an interest in the following:
description	1.	Weatherbee, Scott D. "A mouse model for Meckel syndrome reveals Mks1 is required for ciliogenesis and Hedgehog signaling." Human Molecular Genetics 18.23 (2009): 4565-4575.
description	2.	Stavrou, C. "Autosomal-dominant medullary cystic kidney disease type 1: clinical and molecular findings in six large Cypriot families." Kidney international 62.4 (2002): 1385-94.
description	3.	Otto EA, Trapp ML, Schultheiss UT, Helou J, Quarmb, Edgar A. "NEK8 Mutations Affect Ciliary and Centrosomal Localization and May Cause Nephronophthisis." Journal of the American Society of Nephrology 19.3: 587-592.
description	4.	Margeta, M. A.;, Milica A A. "Transcription Factor Lim1 Specifies Horizontal Cell Laminar Position in the Retina." The journal of neuroscience 28.15 (2008): 3835-6.
description	5.	Davenport, James R R. "Disruption of Intraflagellar Transport in Adult Mice Leads to Obesity and Slow-Onset Cystic Kidney Disease." Current biology 17.18 (2007): 1586-94.
description	6.	Salomon, R. "Nephronophthisis." Pediatric nephrology 26.2 (2008): 2333-2344.
description	7.	Sang, L. "Mapping the NPHP-JBTS-MKS Protein Network Reveals Ciliopathy Disease Genes and Pathways." Cell 145.4 (2011): 513-528.
description	8.	Fischer, D. "Activation of the AKT/mTOR pathway in autosomal recessive polycystic kidney disease (ARPKD)." Nephrology, Dialysis, Transplantation 24.6 (2009): 1819-1827.
description	9.	Goetz, Kathryn C. "The primary cilium: A signalling centre during vertebrate development." Nature Reviews. Genetics 11.5 (2010): 331-344.
description	10.	Patterson, A. "Mouse hitchhiker mutants have spina bifida, dorso-ventral patterning defects and polydactyly: identification of Tulp3 as a novel negative regulator of the Sonic hedgehog pathway." Human Molecular Genetics 18.10 (2009): 1719-1739.
description	11.	Vokes, S. "Hedgehog signaling is essential for endothelial tube formation during vasculogenesis." Development 131.17 (2004): 4371-4380.
description	12.	Fiskerstrand, T. "Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping." The journal of molecular diagnostics 12.1 (2010): 125-131.
description	13.	Giles, Rachel H E. "The von Hippel-Lindau tumour suppressor interacts with microtubules through kinesin-2." FEBS letters 581.24 (2007): 4571-6.
description	14.	Chen, P. "Ciliary proteins link basal body polarization to planar cell polarity regulation." Nature genetics 40.1 (2007): 69-77.
description	15.	Berbari, -Nicolas-F [Author] [. "Hippocampal neurons possess primary cilia in culture." Journal of neuroscience research 85.5 (2007): 1095-1100.
description	16.	Helderman, F. "Effect of shear stress on vascular inflammation and plaque development." Current opinion in lipidology 18.5 (2007): 527-533.
description	17.	Hayashi, S. "Efficient recombination in diverse tissues by a tamoxifen-inducible form of Cre: a tool for temporally regulated gene activation/inactivation in the mouse." Developmental biology 244.2 (2002): 305-18.
description	18.	Joosten, H. "An aid to the diagnosis of genetic disorders underlying adult-onset renal failure: a literature review." Clinical nephrology 73.6 (2010): 454-72.
description	19.	Hildebrandt, F. "Nephronophthisis: disease mechanisms of a ciliopathy." Journal of the American Society of Nephrology 20.1 (2008): 23-35.
description	20.	Danielian, P S S. "Modification of gene activity in mouse embryos in utero by a tamoxifen-inducible form of Cre recombinase." Current biology 8.24 (1999): 1323-6.