Published in Nat Genet on June 23, 2013
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The polarity protein Inturned links NPHP4 to Daam1 to control the subapical actin network in multiciliated cells. J Cell Biol (2015) 0.79
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GTP-binding of ARL-3 is activated by ARL-13 as a GEF and stabilized by UNC-119. Sci Rep (2016) 0.75
Calcitriol Suppression of Parathyroid Hormone Fails to Improve Skeletal Properties in an Animal Model of Chronic Kidney Disease. Am J Nephrol (2016) 0.75
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MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis. J Cell Biol (2011) 3.11
Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia. Am J Hum Genet (2008) 2.74
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The Wilms tumor genes wt1a and wt1b control different steps during formation of the zebrafish pronephros. Dev Biol (2007) 1.91
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. Hum Genet (2013) 1.69
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Inv acts as a molecular anchor for Nphp3 and Nek8 in the proximal segment of primary cilia. Cytoskeleton (Hoboken) (2010) 1.32
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Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy. J Clin Invest (2010) 1.20
Mutations of NPHP2 and NPHP3 in infantile nephronophthisis. Kidney Int (2009) 1.19
Involvement of hypoxia-inducible transcription factors in polycystic kidney disease. Am J Pathol (2007) 1.19
Nephrocystin-3 is required for ciliary function in zebrafish embryos. Am J Physiol Renal Physiol (2010) 1.17
The Rac1 regulator ELMO1 controls vascular morphogenesis in zebrafish. Circ Res (2010) 1.07
VEGF receptor inhibition slows the progression of polycystic kidney disease. Kidney Int (2007) 1.06
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Inversin, the gene product mutated in nephronophthisis type II, functions as a molecular switch between Wnt signaling pathways. Nat Genet (2005) 6.67
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The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. Nat Genet (2006) 5.36
Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible. Nat Genet (2006) 5.29
Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination. Nat Genet (2003) 5.24
Blood pressure in early autosomal dominant polycystic kidney disease. N Engl J Med (2014) 5.01
Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. Nat Genet (2002) 4.64
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. Nat Genet (2007) 4.63
The mTOR pathway is regulated by polycystin-1, and its inhibition reverses renal cystogenesis in polycystic kidney disease. Proc Natl Acad Sci U S A (2006) 4.56
The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein. Nat Genet (2002) 4.54
Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities. Nature (2012) 4.26
Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. Nat Genet (2003) 4.14
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nat Genet (2010) 3.99
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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. Hum Mol Genet (2006) 3.90
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Inhibition of renal cystic disease development and progression by a vasopressin V2 receptor antagonist. Nat Med (2003) 3.78
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nat Genet (2010) 3.66
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A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition. Nat Genet (2011) 3.57
Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome. J Am Soc Nephrol (2004) 3.55
Primary cilia regulate mTORC1 activity and cell size through Lkb1. Nat Cell Biol (2010) 3.55
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. Nat Genet (2005) 3.55
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A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nat Genet (2009) 3.36
Sprouty1 and Sprouty2 provide a control mechanism for the Ras/MAPK signalling pathway. Nat Cell Biol (2002) 3.35
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Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. Nat Genet (2007) 3.22
PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats. Am J Hum Genet (2002) 3.21
The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. Nat Genet (2006) 3.19
Effective treatment of an orthologous model of autosomal dominant polycystic kidney disease. Nat Med (2004) 3.09
A systematic approach to mapping recessive disease genes in individuals from outbred populations. PLoS Genet (2009) 3.06
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet (2011) 3.06
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Nat Genet (2007) 3.02
Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease. Kidney Int (2009) 2.99
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The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. Am J Hum Genet (2006) 2.96
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