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。Loss of nephrocystin-3 function can cause embryonic lethality, meckel-gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia
Carsten Bergmann et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome
Valeska Frank et al.
HUMAN MUTATION (2008)
The subcellular localization of TRPP2 modulates its function
Xiao Fu et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2008)
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome
Carmen C. Leitch et al.
NATURE GENETICS (2008)
Mechanisms of disease - When cilia go bad: cilia defects and ciliopathies
Manfred Fliegauf et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2007)
Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Loken syndrome
Juliana Helou et al.
JOURNAL OF MEDICAL GENETICS (2007)
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome
Heleen H. Arts et al.
NATURE GENETICS (2007)
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome
Lekbir Baala et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Nephronophthisis-associated ciliopathies
Friedhelm Hildebrandt et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2007)
Autoinhibition regulates the motility of the C-elegans intraflagellar transport motor OSM-3
Miki Imanishi et al.
JOURNAL OF CELL BIOLOGY (2006)
Mutations in the CEP290 (NPHP6) gene are a frequent cause of leber congenital amaurosis
Anneke I. den Hollander et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
The C/EBP homologous protein CHOP (GADD153) is an inhibitor of Wnt/TCF signals
M. Horndasch et al.
ONCOGENE (2006)
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4
John A. Sayer et al.
NATURE GENETICS (2006)
In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse
Bo Chang et al.
HUMAN MOLECULAR GENETICS (2006)
Phosphorylation by casein kinase 2 induces PACS-1 binding of nephrocystin and targeting to cilia
B Schermer et al.
EMBO JOURNAL (2005)
Inversin, the gene product mutated in nephronophthisis type II, functions as a molecular switch between Wnt signaling pathways
M Simons et al.
NATURE GENETICS (2005)
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin
EA Otto et al.
NATURE GENETICS (2005)
Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination
EA Otto et al.
NATURE GENETICS (2003)
Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis
H Olbrich et al.
NATURE GENETICS (2003)
The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin
G Mollet et al.
NATURE GENETICS (2002)