AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis.

PubWeight™: 1.89‹?› | Rank: Top 3%

🔗 View Article (PMC 2884967)

Published in Nat Genet on January 17, 2010

Authors

Carrie M Louie1, Gianluca Caridi, Vanda S Lopes, Francesco Brancati, Andreas Kispert, Madeline A Lancaster, Andrew M Schlossman, Edgar A Otto, Michael Leitges, Hermann-Josef Gröne, Irma Lopez, Harini V Gudiseva, John F O'Toole, Elena Vallespin, Radha Ayyagari, Carmen Ayuso, Frans P M Cremers, Anneke I den Hollander, Robert K Koenekoop, Bruno Dallapiccola, Gian Marco Ghiggeri, Friedhelm Hildebrandt, Enza Maria Valente, David S Williams, Joseph G Gleeson

Author Affiliations

1: Howard Hughes Medical Institute, Department of Pediatrics, University of California, San Diego, La Jolla, USA.

Articles citing this

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet (2011) 3.06

A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain. Nat Cell Biol (2011) 2.43

The base of the cilium: roles for transition fibres and the transition zone in ciliary formation, maintenance and compartmentalization. EMBO Rep (2012) 2.17

Strange as it may seem: the many links between Wnt signaling, planar cell polarity, and cilia. Genes Dev (2011) 1.94

Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome. Nat Med (2011) 1.84

Joubert syndrome: congenital cerebellar ataxia with the molar tooth. Lancet Neurol (2013) 1.83

Modeling human disease in humans: the ciliopathies. Cell (2011) 1.60

Cilia in vertebrate development and disease. Development (2012) 1.50

The ciliopathies: a transitional model into systems biology of human genetic disease. Curr Opin Genet Dev (2012) 1.44

Cilia in the nervous system: linking cilia function and neurodevelopmental disorders. Curr Opin Neurol (2011) 1.43

Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies. PLoS One (2013) 1.40

TCTN3 mutations cause Mohr-Majewski syndrome. Am J Hum Genet (2012) 1.29

Nephronophthisis. Pediatr Nephrol (2010) 1.28

Photoreceptor sensory cilia and ciliopathies: focus on CEP290, RPGR and their interacting proteins. Cilia (2012) 1.27

Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy. Hum Mol Genet (2011) 1.27

Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes. Hum Mutat (2010) 1.21

Understanding variable expressivity in microdeletion syndromes. Nat Genet (2010) 1.16

Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI. Orphanet J Rare Dis (2012) 1.15

Primary cilia in neurodevelopmental disorders. Nat Rev Neurol (2013) 1.14

Interaction of ciliary disease protein retinitis pigmentosa GTPase regulator with nephronophthisis-associated proteins in mammalian retinas. Mol Vis (2010) 1.11

Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis. J Clin Invest (2012) 1.09

The ciliopathy gene cc2d2a controls zebrafish photoreceptor outer segment development through a role in Rab8-dependent vesicle trafficking. Hum Mol Genet (2011) 1.09

Modifier genes and the plasticity of genetic networks in mice. PLoS Genet (2012) 1.05

A systems-biology approach to understanding the ciliopathy disorders. Genome Med (2011) 1.04

Genome-wide association study in RPGRIP1(-/-) dogs identifies a modifier locus that determines the onset of retinal degeneration. Mamm Genome (2011) 1.04

Dysfunction of heterotrimeric kinesin-2 in rod photoreceptor cells and the role of opsin mislocalization in rapid cell death. Mol Biol Cell (2010) 1.01

Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome. Am J Hum Genet (2014) 0.99

BBS mutations modify phenotypic expression of CEP290-related ciliopathies. Hum Mol Genet (2013) 0.99

Cystic diseases of the kidney: ciliary dysfunction and cystogenic mechanisms. Pediatr Nephrol (2010) 0.98

The role of primary cilia in the development and disease of the retina. Organogenesis (2013) 0.98

Mutation of POC1B in a severe syndromic retinal ciliopathy. Hum Mutat (2014) 0.97

Mouse models of ciliopathies: the state of the art. Dis Model Mech (2012) 0.94

A QTL on chromosome 10 modulates cone photoreceptor number in the mouse retina. Invest Ophthalmol Vis Sci (2011) 0.94

Ciliopathies: the trafficking connection. Traffic (2014) 0.93

CEP290 alleles in mice disrupt tissue-specific cilia biogenesis and recapitulate features of syndromic ciliopathies. Hum Mol Genet (2015) 0.93

DNAH6 and Its Interactions with PCD Genes in Heterotaxy and Primary Ciliary Dyskinesia. PLoS Genet (2016) 0.92

Neuronal Abelson helper integration site-1 (Ahi1) deficiency in mice alters TrkB signaling with a depressive phenotype. Proc Natl Acad Sci U S A (2010) 0.92

WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome. Clin Genet (2013) 0.92

Pharmacological modulation of the retinal unfolded protein response in Bardet-Biedl syndrome reduces apoptosis and preserves light detection ability. J Biol Chem (2012) 0.91

Vision from next generation sequencing: multi-dimensional genome-wide analysis for producing gene regulatory networks underlying retinal development, aging and disease. Prog Retin Eye Res (2015) 0.90

Knockdown of ttc26 disrupts ciliogenesis of the photoreceptor cells and the pronephros in zebrafish. Mol Biol Cell (2012) 0.90

Genetic ablation of Pals1 in retinal progenitor cells models the retinal pathology of Leber congenital amaurosis. Hum Mol Genet (2012) 0.90

Retinal disease course in Usher syndrome 1B due to MYO7A mutations. Invest Ophthalmol Vis Sci (2011) 0.90

Nephronophthisis and related syndromes. Curr Opin Pediatr (2015) 0.89

Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina. Hum Mol Genet (2014) 0.88

Conserved Genetic Interactions between Ciliopathy Complexes Cooperatively Support Ciliogenesis and Ciliary Signaling. PLoS Genet (2015) 0.87

The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions. J Biol Chem (2013) 0.85

Neural mechanisms underlying stress resilience in Ahi1 knockout mice: relevance to neuropsychiatric disorders. Mol Psychiatry (2013) 0.85

Modelling a ciliopathy: Ahi1 knockdown in model systems reveals an essential role in brain, retinal, and renal development. Cell Mol Life Sci (2011) 0.84

Investigating embryonic expression patterns and evolution of AHI1 and CEP290 genes, implicated in Joubert syndrome. PLoS One (2012) 0.83

Genetic architecture of retinal and macular degenerative diseases: the promise and challenges of next-generation sequencing. Genome Med (2013) 0.83

Co-occurrence of distinct ciliopathy diseases in single families suggests genetic modifiers. Am J Med Genet A (2011) 0.83

Cilia in cell signaling and human disorders. Protein Cell (2010) 0.83

Whole exome sequencing of a dominant retinitis pigmentosa family identifies a novel deletion in PRPF31. Invest Ophthalmol Vis Sci (2014) 0.83

Modifier genes and non-genetic factors reshape anatomical deficits in Zfp423-deficient mice. Hum Mol Genet (2011) 0.83

Loss of Ahi1 affects early development by impairing BM88/Cend1-mediated neuronal differentiation. J Neurosci (2013) 0.82

AHI-1: a novel signaling protein and potential therapeutic target in human leukemia and brain disorders. Oncotarget (2011) 0.82

The Ciliary Transition Zone: Finding the Pieces and Assembling the Gate. Mol Cells (2017) 0.82

Topoisomerase IIbeta is required for proper retinal development and survival of postmitotic cells. Biol Open (2014) 0.81

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. Eur J Hum Genet (2013) 0.81

Tyro3 Modulates Mertk-Associated Retinal Degeneration. PLoS Genet (2015) 0.80

Polymorphic variation of RPGRIP1L and IQCB1 as modifiers of X-linked retinitis pigmentosa caused by mutations in RPGR. Adv Exp Med Biol (2012) 0.80

Ciliopathy-associated protein CEP290 modifies the severity of retinal degeneration due to loss of RPGR. Hum Mol Genet (2016) 0.79

Hypothalamic Ahi1 mediates feeding behavior through interaction with 5-HT2C receptor. J Biol Chem (2011) 0.79

Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. Am J Hum Genet (2016) 0.78

Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes. J Med Genet (2016) 0.77

The Ciliopathy Gene ahi1 Is Required for Zebrafish Cone Photoreceptor Outer Segment Morphogenesis and Survival. Invest Ophthalmol Vis Sci (2017) 0.76

The Biology of Ciliary Dynamics. Cold Spring Harb Perspect Biol (2017) 0.76

The ciliary proteins Meckelin and Jouberin are required for retinoic acid-dependent neural differentiation of mouse embryonic stem cells. Differentiation (2014) 0.75

Applications of phototransformable fluorescent proteins for tracking the dynamics of cellular components. Photochem Photobiol Sci (2015) 0.75

Identification of 2 Potentially Relevant Gene Mutations Involved in Strabismus Using Whole-Exome Sequencing. Med Sci Monit (2017) 0.75

Primary Cilia as a Possible Link between Left-Right Asymmetry and Neurodevelopmental Diseases. Genes (Basel) (2017) 0.75

Top2b is involved in the formation of outer segment and synapse during late-stage photoreceptor differentiation by controlling key genes of photoreceptor transcriptional regulatory network. J Neurosci Res (2017) 0.75

Alterations in the expression of a neurodevelopmental gene exert long-lasting effects on cognitive-emotional phenotypes and functional brain networks: translational evidence from the stress-resilient Ahi1 knockout mouse. Mol Psychiatry (2016) 0.75

Articles cited by this

Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am J Hum Genet (1993) 51.42

SNPs3D: candidate gene and SNP selection for association studies. BMC Bioinformatics (2006) 21.54

Prediction of deleterious human alleles. Hum Mol Genet (2001) 21.00

Efficient in vivo manipulation of mouse genomic sequences at the zygote stage. Proc Natl Acad Sci U S A (1996) 12.92

Disruption of the glucocorticoid receptor gene in the nervous system results in reduced anxiety. Nat Genet (1999) 11.79

HPRT-deficient (Lesch-Nyhan) mouse embryos derived from germline colonization by cultured cells. Nature (1987) 10.32

Electroporation and RNA interference in the rodent retina in vivo and in vitro. Proc Natl Acad Sci U S A (2003) 6.28

Leber congenital amaurosis: genes, proteins and disease mechanisms. Prog Retin Eye Res (2008) 5.90

Pax6 is required for the multipotent state of retinal progenitor cells. Cell (2001) 4.65

Controlled expression of transgenes introduced by in vivo electroporation. Proc Natl Acad Sci U S A (2007) 4.57

Genetic evidence for selective transport of opsin and arrestin by kinesin-II in mammalian photoreceptors. Cell (2000) 4.51

Retinopathy induced in mice by targeted disruption of the rhodopsin gene. Nat Genet (1997) 4.50

The intraflagellar transport protein, IFT88, is essential for vertebrate photoreceptor assembly and maintenance. J Cell Biol (2002) 3.85

Disruption of intraflagellar transport in adult mice leads to obesity and slow-onset cystic kidney disease. Curr Biol (2007) 3.76

Morphological, physiological, and biochemical changes in rhodopsin knockout mice. Proc Natl Acad Sci U S A (1999) 3.71

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nat Genet (2009) 3.36

Functional heterogeneity of mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa. Proc Natl Acad Sci U S A (1991) 3.19

Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome. Nat Genet (2004) 3.01

A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1. Nat Genet (1997) 2.88

Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria. Am J Hum Genet (2004) 2.76

Beyond counting photons: trials and trends in vertebrate visual transduction. Neuron (2005) 2.71

Doublecortin-like kinase functions with doublecortin to mediate fiber tract decussation and neuronal migration. Neuron (2006) 2.27

High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations. J Am Soc Nephrol (2007) 2.06

RPGR isoforms in photoreceptor connecting cilia and the transitional zone of motile cilia. Invest Ophthalmol Vis Sci (2003) 2.00

AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. Ann Neurol (2006) 1.89

Impaired Wnt-beta-catenin signaling disrupts adult renal homeostasis and leads to cystic kidney ciliopathy. Nat Med (2009) 1.86

Nephrocystin specifically localizes to the transition zone of renal and respiratory cilia and photoreceptor connecting cilia. J Am Soc Nephrol (2006) 1.79

Renal-retinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus. Am J Kidney Dis (1998) 1.66

Rhodopsin signaling and organization in heterozygote rhodopsin knockout mice. J Biol Chem (2004) 1.64

Identification and subcellular localization of the RP1 protein in human and mouse photoreceptors. Invest Ophthalmol Vis Sci (2002) 1.58

AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome. J Med Genet (2005) 1.58

Modeling ciliopathies: Primary cilia in development and disease. Curr Top Dev Biol (2008) 1.57

A role for rhodopsin in a signal transduction cascade that regulates membrane trafficking and photoreceptor polarity. Vision Res (2006) 1.49

Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis. Hum Mol Genet (1996) 1.42

DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands. Eur J Med Genet (2007) 1.39

Transgenic mouse line with green-fluorescent protein-labeled Centrin 2 allows visualization of the centrosome in living cells. Transgenic Res (2004) 1.39

Ahi-1, a novel gene encoding a modular protein with WD40-repeat and SH3 domains, is targeted by the Ahi-1 and Mis-2 provirus integrations. J Virol (2002) 1.38

Ahi1, whose human ortholog is mutated in Joubert syndrome, is required for Rab8a localization, ciliogenesis and vesicle trafficking. Hum Mol Genet (2009) 1.33

Jouberin localizes to collecting ducts and interacts with nephrocystin-1. Kidney Int (2008) 1.24

Photoreceptor IFT complexes containing chaperones, guanylyl cyclase 1 and rhodopsin. Traffic (2009) 1.16

Essential role of nephrocystin in photoreceptor intraflagellar transport in mouse. Hum Mol Genet (2009) 1.12

Nephronophthisis type 1 deletion syndrome with neurological symptoms: prevalence and significance of the association. Kidney Int (2006) 1.06

Expression of centrin isoforms in the mammalian retina. Exp Cell Res (1998) 1.01

Defective development of photoreceptor membranes in a mouse model of recessive retinal degeneration. Vision Res (2006) 0.94

Preventive versus treatment effect of AG3340, a potent matrix metalloproteinase inhibitor in a rat model of choroidal neovascularization. J Ocul Pharmacol Ther (2004) 0.87

Articles by these authors

Guidelines for the use and interpretation of assays for monitoring autophagy. Autophagy (2012) 20.08

Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science (2004) 15.91

Arterial embolisation or chemoembolisation versus symptomatic treatment in patients with unresectable hepatocellular carcinoma: a randomised controlled trial. Lancet (2002) 12.16

An SCN9A channelopathy causes congenital inability to experience pain. Nature (2006) 7.01

Blue silver: a very sensitive colloidal Coomassie G-250 staining for proteome analysis. Electrophoresis (2004) 6.97

Diagnosis of hepatic nodules 20 mm or smaller in cirrhosis: Prospective validation of the noninvasive diagnostic criteria for hepatocellular carcinoma. Hepatology (2008) 6.75

Netting neutrophils in autoimmune small-vessel vasculitis. Nat Med (2009) 6.72

Leber congenital amaurosis: genes, proteins and disease mechanisms. Prog Retin Eye Res (2008) 5.90

Axonopathy and transport deficits early in the pathogenesis of Alzheimer's disease. Science (2005) 5.49

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

Chemoembolization of hepatocellular carcinoma with drug eluting beads: efficacy and doxorubicin pharmacokinetics. J Hepatol (2006) 5.17

Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. Am J Hum Genet (2006) 4.77

Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. Nat Genet (2006) 4.68

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

Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. Nat Genet (2003) 4.14

Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science (2008) 4.04

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nat Genet (2010) 3.99

The matrix component biglycan is proinflammatory and signals through Toll-like receptors 4 and 2 in macrophages. J Clin Invest (2005) 3.99

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. Nat Genet (2006) 3.97

Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. Cell (2011) 3.95

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

HomozygosityMapper--an interactive approach to homozygosity mapping. Nucleic Acids Res (2009) 3.86

Common variants at five new loci associated with early-onset inflammatory bowel disease. Nat Genet (2009) 3.82

Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism. Hum Mol Genet (2005) 3.76

Cadherin 23 is a component of the tip link in hair-cell stereocilia. Nature (2004) 3.69

Liver disintegration in the mouse embryo caused by deficiency in the RNA-editing enzyme ADAR1. J Biol Chem (2003) 3.68

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nat Genet (2010) 3.66

Functional genomic screen for modulators of ciliogenesis and cilium length. Nature (2010) 3.63

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

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. Nat Genet (2005) 3.55

Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. Nat Genet (2007) 3.47

De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly. Nat Genet (2012) 3.41

Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2). Pediatrics (2007) 3.39

Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study. Lancet Neurol (2011) 3.36

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nat Genet (2009) 3.36

OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes. Brain (2007) 3.35

Ndel1 operates in a common pathway with LIS1 and cytoplasmic dynein to regulate cortical neuronal positioning. Neuron (2004) 3.33

Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. Nat Genet (2007) 3.22

Genome-wide association study identifies susceptibility loci for IgA nephropathy. Nat Genet (2011) 3.15

Renal outcome in patients with congenital anomalies of the kidney and urinary tract. Kidney Int (2009) 3.13

Joubert Syndrome and related disorders. Orphanet J Rare Dis (2010) 3.10

Wnt11 and Ret/Gdnf pathways cooperate in regulating ureteric branching during metanephric kidney development. Development (2003) 3.08

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

Vascular normalization in Rgs5-deficient tumours promotes immune destruction. Nature (2008) 3.05

Definition of estrogen receptor pathway critical for estrogen positive feedback to gonadotropin-releasing hormone neurons and fertility. Neuron (2006) 3.04

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence. Nat Genet (2009) 3.03

Lis1 and doublecortin function with dynein to mediate coupling of the nucleus to the centrosome in neuronal migration. J Cell Biol (2004) 3.01

Toxicity of familial ALS-linked SOD1 mutants from selective recruitment to spinal mitochondria. Neuron (2004) 2.94

Cyclosporin A is superior to cyclophosphamide in children with steroid-resistant nephrotic syndrome-a randomized controlled multicentre trial by the Arbeitsgemeinschaft für Pädiatrische Nephrologie. Pediatr Nephrol (2008) 2.92

Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C. Am J Hum Genet (2002) 2.90

Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study. J Am Soc Nephrol (2006) 2.89

Modular activation of nuclear factor-kappaB transcriptional programs in human diabetic nephropathy. Diabetes (2006) 2.85

Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet (2007) 2.81