| scholarly article | Q13442814 |
| P356 | DOI | 10.1016/J.AJHG.2017.05.010 |
| P8608 | Fatcat ID | release_tacvkrxgrnfr5irgcjdsk4eapy |
| P932 | PMC publication ID | 5501774 |
| P698 | PubMed publication ID | 28625504 |
| P50 | author | Ohad Birk | Q6743086 |
| Megan E Grout | Q86969416 | ||
| Kimberly A Aldinger | Q87527940 | ||
| Ranad Shaheen | Q90601502 | ||
| Deborah A Nickerson | Q92804625 | ||
| University of Washington Center for Mendelian Genomics | Q98686649 | ||
| William B. Dobyns | Q30445602 | ||
| Ruxandra Bachmann-Gagescu | Q47384753 | ||
| P2093 | author name string | Dan Doherty | |
| Arif O Khan | |||
| Fowzan S Alkuraya | |||
| Ronald Roepman | |||
| Ian G Phelps | |||
| Michael J Bamshad | |||
| Himanshu Goel | |||
| Matthias Gesemann | |||
| Stephan C F Neuhauss | |||
| Jennifer C Dempsey | |||
| Rifaat Rawashdeh | |||
| Sateesh Maddirevula | |||
| Julie C Van De Weghe | |||
| Talal Alanzi | |||
| Brooke Latour | |||
| Tamara D S Rusterholz | |||
| Yong-Han H Cheng | |||
| P2860 | cites work | A complex of BBS1 and NPHP7 is required for cilia motility in zebrafish | Q21558497 |
| Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome | Q21710711 | ||
| The Ciliopathies: An Emerging Class of Human Genetic Disorders | Q22337032 | ||
| TCTN3 mutations cause Mohr-Majewski syndrome | Q24295300 | ||
| TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone | Q24299114 | ||
| CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium | Q24301924 | ||
| Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways | Q24302034 | ||
| Ofd1, a human disease gene, regulates the length and distal structure of centrioles | Q24303311 | ||
| Evolutionarily assembled cis-regulatory module at a human ciliopathy locus | Q24303601 | ||
| Uncommon syndromes of cerebellar vermis aplasia. I: Joubert syndrome | Q48142177 | ||
| Joubert syndrome: brain and spinal cord malformations in genotyped cases and implications for neurodevelopmental functions of primary cilia | Q48661877 | ||
| Joubert syndrome and related disorders: spectrum of neuroimaging findings in 75 patients | Q49159669 | ||
| Modulation of Ciliary Phosphoinositide Content Regulates Trafficking and Sonic Hedgehog Signaling Output. | Q52151849 | ||
| Database resources of the National Center for Biotechnology Information | Q57444434 | ||
| The effect of enucleation on flagellar regeneration in the protozoon Peranema trichophorum | Q72370755 | ||
| Identification of transcripts overexpressed during airway epithelium differentiation | Q80824523 | ||
| Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics | Q24305196 | ||
| Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome | Q24308692 | ||
| The Talpid3 gene (KIAA0586) encodes a centrosomal protein that is essential for primary cilia formation | Q24316483 | ||
| The CP110-interacting proteins Talpid3 and Cep290 play overlapping and distinct roles in cilia assembly | Q24319889 | ||
| OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin | Q24320320 | ||
| The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4 | Q24336477 | ||
| Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans | Q24338649 | ||
| Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria | Q24534179 | ||
| Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes | Q24625476 | ||
| CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290 | Q24644138 | ||
| Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation | Q24651168 | ||
| Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies | Q24651557 | ||
| The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome | Q24680812 | ||
| Identification of ciliated sensory neuron-expressed genes in Caenorhabditis elegans using targeted pull-down of poly(A) tails | Q24796378 | ||
| Analysis of protein-coding genetic variation in 60,706 humans | Q26831376 | ||
| The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities | Q27014740 | ||
| The LisH motif of muskelin is crucial for oligomerization and governs intracellular localization | Q27697322 | ||
| C2cd3 is required for cilia formation and Hedgehog signaling in mouse. | Q27967629 | ||
| A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition | Q28000057 | ||
| C2cd3 is critical for centriolar distal appendage assembly and ciliary vesicle docking in mammals. | Q28000151 | ||
| Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome | Q28278080 | ||
| Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders | Q28279421 | ||
| Intraflagellar transport protein 122 antagonizes Sonic Hedgehog signaling and controls ciliary localization of pathway components | Q28505068 | ||
| Broad-minded links cell cycle-related kinase to cilia assembly and hedgehog signal transduction | Q28508448 | ||
| Proteomic analysis of mammalian primary cilia | Q28512191 | ||
| Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene | Q28590359 | ||
| Intraflagellar transport, cilia, and mammalian Hedgehog signaling: analysis in mouse embryonic fibroblasts | Q28591555 | ||
| Isolation and properties of Gas8, a growth arrest-specific gene regulated during male gametogenesis to produce a protein associated with the sperm motility apparatus | Q28594354 | ||
| The Genotype-Tissue Expression (GTEx) project | Q28657968 | ||
| PDGFRalphaalpha signaling is regulated through the primary cilium in fibroblasts | Q29614616 | ||
| CEP290 tethers flagellar transition zone microtubules to the membrane and regulates flagellar protein content. | Q29614822 | ||
| A general framework for estimating the relative pathogenicity of human genetic variants | Q29615730 | ||
| Evolution and functional impact of rare coding variation from deep sequencing of human exomes | Q29617587 | ||
| Decoding cilia function: defining specialized genes required for compartmentalized cilia biogenesis | Q29618534 | ||
| GEMINI: integrative exploration of genetic variation and genome annotations | Q30418169 | ||
| PDGFRα signaling in the primary cilium regulates NHE1-dependent fibroblast migration via coordinated differential activity of MEK1/2-ERK1/2-p90RSK and AKT signaling pathways | Q30655811 | ||
| Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases | Q30657467 | ||
| Joubert syndrome: insights into brain development, cilium biology, and complex disease | Q33580854 | ||
| Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies | Q33587483 | ||
| The kinesin-4 protein Kif7 regulates mammalian Hedgehog signalling by organizing the cilium tip compartment | Q33858596 | ||
| The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome | Q33909988 | ||
| Transcriptional landscape of the prenatal human brain | Q33926910 | ||
| Genome-wide transcriptional analysis of flagellar regeneration in Chlamydomonas reinhardtii identifies orthologs of ciliary disease genes | Q33928536 | ||
| Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population | Q34031174 | ||
| Hypomorphism for RPGRIP1L, a ciliary gene vicinal to the FTO locus, causes increased adiposity in mice | Q34040084 | ||
| OFD1 is a centrosomal/basal body protein expressed during mesenchymal-epithelial transition in human nephrogenesis. | Q34355896 | ||
| Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy | Q34393598 | ||
| INPP5E interacts with AURKA, linking phosphoinositide signaling to primary cilium stability | Q34447855 | ||
| The dimerization mechanism of LIS1 and its implication for proteins containing the LisH motif | Q34489505 | ||
| TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum | Q34764702 | ||
| Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome | Q35032831 | ||
| Sensory roles of neuronal cilia: cilia development, morphogenesis, and function in C. elegans | Q35072790 | ||
| Investigating the genetic basis of fever-associated syndromic epilepsies using copy number variation analysis. | Q35186631 | ||
| The ciliopathy gene cc2d2a controls zebrafish photoreceptor outer segment development through a role in Rab8-dependent vesicle trafficking | Q35225255 | ||
| Rare copy number variants are an important cause of epileptic encephalopathies | Q35632675 | ||
| The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking | Q35814872 | ||
| Proteomics of Primary Cilia by Proximity Labeling | Q35846472 | ||
| DNA replication stress underlies renal phenotypes in CEP290-associated Joubert syndrome | Q36106080 | ||
| Flagellar elongation and shortening in Chlamydomonas. The use of cycloheximide and colchicine to study the synthesis and assembly of flagellar proteins | Q36190866 | ||
| Flagellar elongation and shortening in Chlamydomonas. IV. Effects of flagellar detachment, regeneration, and resorption on the induction of flagellar protein synthesis | Q36199735 | ||
| The intraflagellar transport protein IFT57 is required for cilia maintenance and regulates IFT-particle-kinesin-II dissociation in vertebrate photoreceptors | Q37086786 | ||
| MKS1 regulates ciliary INPP5E levels in Joubert syndrome | Q37331333 | ||
| Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity | Q37370853 | ||
| Arl13b regulates Shh signaling from both inside and outside the cilium. | Q37518056 | ||
| INPP5E regulates phosphoinositide-dependent cilia transition zone function. | Q37576577 | ||
| The platelet-derived growth factor alpha-receptor is encoded by a growth-arrest-specific (gas) gene | Q37599446 | ||
| The Ciliopathy Gene ahi1 Is Required for Zebrafish Cone Photoreceptor Outer Segment Morphogenesis and Survival | Q37610137 | ||
| Abnormal glycosylation in Joubert syndrome type 10. | Q37719527 | ||
| Autozygome decoded | Q37824382 | ||
| Discovery of rare homozygous mutations from studies of consanguineous pedigrees | Q38052873 | ||
| Proteomic analysis of isolated chlamydomonas centrioles reveals orthologs of ciliary-disease genes | Q39720851 | ||
| Prenatal and neonatal MR imaging findings in oral-facial-digital syndrome type VI. | Q39840041 | ||
| Characterizing the morbid genome of ciliopathies. | Q40424373 | ||
| Zebrafish models of idiopathic scoliosis link cerebrospinal fluid flow defects to spine curvature | Q41542474 | ||
| Intact retinal pigment epithelium maintained by Nok is essential for retinal epithelial polarity and cellular patterning in zebrafish | Q41889444 | ||
| Phosphoinositides Regulate Ciliary Protein Trafficking to Modulate Hedgehog Signaling | Q42287159 | ||
| The frataxin-encoding operon of Caenorhabditis elegans shows complex structure and regulation | Q42606685 | ||
| Early defects in photoreceptor outer segment morphogenesis in zebrafish ift57, ift88 and ift172 Intraflagellar Transport mutants | Q42721679 | ||
| Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome | Q42752301 | ||
| Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center | Q45051514 | ||
| Mutations in TMEM231 cause Joubert syndrome in French Canadians | Q46903281 | ||
| A genetic screen in zebrafish identifies cilia genes as a principal cause of cystic kidney | Q47074132 | ||
| Neuropathology of Joubert syndrome | Q48097895 | ||
| P433 | issue | 1 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | ciliopathy | Q203031 |
| Joubert syndrome | Q1101694 | ||
| Armadillo repeat containing 9 | Q21116719 | ||
| P304 | page(s) | 23-36 | |
| P577 | publication date | 2017-06-15 | |
| P1433 | published in | American Journal of Human Genetics | Q4744249 |
| P1476 | title | Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish | |
| P478 | volume | 101 |
| Q49830782 | A CRISPR-based screen for Hedgehog signaling provides insights into ciliary function and ciliopathies. |
| Q92917866 | A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC) |
| Q57023929 | ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition |
| Q64242846 | Cilia Distal Domain: Diversity in Evolutionarily Conserved Structures |
| Q64988443 | Combining Zebrafish and CRISPR/Cas9: Toward a More Efficient Drug Discovery Pipeline. |
| Q92303065 | Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population |
| Q58728468 | Multiplexed CRISPR/Cas9 Targeting of Genes Implicated in Retinal Regeneration and Degeneration |
| Q90065966 | Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development |
| Q64935310 | Proteins that control the geometry of microtubules at the ends of cilia. |
| Q58700462 | Targeted disruption of the endogenous zebrafish locus as models of rapid rod photoreceptor degeneration |
| Q100695951 | The tubulin code specializes neuronal cilia for extracellular vesicle release |
| Q52776216 | Whole exome sequencing reveals a mutation in ARMC9 as a cause of mental retardation, ptosis, and polydactyly. |
| Q55429803 | Zebrafish Models of Rare Hereditary Pediatric Diseases. |
| Q94002511 | Zebrafish as models to study ciliopathies of the eye and kidney |
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