| scholarly article | Q13442814 |
| P5530 | Altmetric DOI | 10.7554/ELIFE.06602 |
| P6409 | CORE ID | 85458108 |
| P6179 | Dimensions Publication ID | 1015023026 |
| P356 | DOI | 10.7554/ELIFE.06602 |
| P953 | full work available at URL | http://eprints.whiterose.ac.uk/88333/ |
| https://doi.org/10.7554/eLife.06602 | ||
| P932 | PMC publication ID | 4477441 |
| P698 | PubMed publication ID | 26026149 |
| P1154 | Scopus EID | 2-s2.0-84930622375 |
| P50 | author | Trey Ideker | Q16335202 |
| Enza Maria Valente | Q28322370 | ||
| Eugen Boltshauser | Q30111691 | ||
| Rasim Ozgur Rosti | Q30111695 | ||
| Enrico Bertini | Q30429884 | ||
| William B. Dobyns | Q30445602 | ||
| Joseph G Gleeson | Q74844635 | ||
| Isabella Moroni | Q80073353 | ||
| Kathryn J Swoboda | Q87443674 | ||
| Rose-Mary Boustany | Q87803798 | ||
| Matan Hofree | Q87906411 | ||
| Maja Steinlin | Q88359200 | ||
| Jennifer L Silhavy | Q114438698 | ||
| Marta Romani | Q117223333 | ||
| Jana Schroth | Q117223334 | ||
| Elide Miccinilli | Q117223335 | ||
| Matloob Azam | Q117223336 | ||
| Franco Stanzial | Q117223337 | ||
| Keith K Vaux | Q117223338 | ||
| Stacey Gabriel | Q32649203 | ||
| Tommaso Mazza | Q41045666 | ||
| Maha Zaki | Q43141494 | ||
| Renato Borgatti | Q43184984 | ||
| Susanne Roosing | Q55711524 | ||
| Brett Copeland | Q56420165 | ||
| Romina Romaniello | Q56428038 | ||
| P2093 | author name string | Friedhelm Hildebrandt | |
| Colin A Johnson | |||
| Eric Scott | |||
| Francesco Emma | |||
| Joon Kim | |||
| Sehyun Kim | |||
| Ji Eun Lee | |||
| Pedro Aza-Blanc | |||
| Brian D Dynlacht | |||
| Marisol Mirabelli-Badenier | |||
| Stefano D'Arrigo | |||
| Carol L Clericuzio | |||
| Faruk İncecik | |||
| Joanne Milisa-Drautz | |||
| Michael Freilinger | |||
| Mohamed A Mikati | |||
| Petter Strømme | |||
| Susanne Heynen-Genel | |||
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| Generation of mice with functional inactivation of talpid3, a gene first identified in chicken | Q28592864 | ||
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| Exome sequencing can improve diagnosis and alter patient management | Q35641969 | ||
| Calmodulin activation of Aurora-A kinase (AURKA) is required during ciliary disassembly and in mitosis | Q36091819 | ||
| Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth | Q36358463 | ||
| The SYSCILIA gold standard (SCGSv1) of known ciliary components and its applications within a systems biology consortium | Q36908598 | ||
| Genome-wide RNAi screen reveals disease-associated genes that are common to Hedgehog and Wnt signaling. | Q37215386 | ||
| Systematic Discovery of Human Gene Function and Principles of Modular Organization through Phylogenetic Profiling | Q41046461 | ||
| Loss of cilia causes embryonic lung hypoplasia, liver fibrosis, and cholestasis in the talpid3 ciliopathy mutant. | Q41819809 | ||
| Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome | Q42752301 | ||
| The crooked neck gene of Drosophila contains a motif found in a family of yeast cell cycle genes | Q48222889 | ||
| P407 | language of work or name | English | Q1860 |
| P304 | page(s) | e06602 | |
| P577 | publication date | 2015-05-30 | |
| P1433 | published in | eLife | Q2000008 |
| P1476 | title | Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome | |
| P478 | volume | 4 |
| Q92617626 | A CEP104-CSPP1 Complex Is Required for Formation of Primary Cilia Competent in Hedgehog Signaling |
| Q49830782 | A CRISPR-based screen for Hedgehog signaling provides insights into ciliary function and ciliopathies. |
| Q36362149 | A Novel Approach to High-Quality Postmortem Tissue Procurement: The GTEx Project |
| Q57149575 | A distal centriolar protein network controls organelle maturation and asymmetry |
| Q48937473 | A novel HYLS1 homozygous mutation in living siblings with Joubert syndrome |
| Q38802675 | A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders |
| Q37699012 | Centriole splitting caused by loss of the centrosomal linker protein C-NAP1 reduces centriolar satellite density and impedes centrosome amplification. |
| Q38994215 | Ciliopathies |
| Q37551640 | GEMC1 is a critical regulator of multiciliated cell differentiation |
| Q36950722 | Genome-wide screen identifies novel machineries required for both ciliogenesis and cell cycle arrest upon serum starvation |
| Q41826312 | Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome. |
| Q57180807 | Identification of clinically actionable variants from genome sequencing of families with congenital heart disease |
| Q36339758 | Joubert Syndrome in French Canadians and Identification of Mutations in CEP104 |
| Q35956220 | KIAA0586 is Mutated in Joubert Syndrome |
| Q39035630 | Machine learning and computer vision approaches for phenotypic profiling |
| Q92692779 | Mice with a conditional deletion of Talpid3 (KIAA0586) - a model for Joubert syndrome |
| Q40643638 | Molecular genetic analysis of 30 families with Joubert syndrome |
| Q39012190 | Motile and non-motile cilia in human pathology: from function to phenotypes |
| Q37235765 | Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes |
| Q61990298 | Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome |
| Q29147550 | Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes |
| Q89040762 | Primary Cilia Reconsidered in the Context of Ciliopathies: Extraciliary and Ciliary Functions of Cilia Proteins Converge on a Polarity theme? |
| Q47228439 | Primary cilia proteins: ciliary and extraciliary sites and functions. |
| Q39178653 | Sonic Hedgehog Signaling in Limb Development |
| Q94545038 | Sudden death in epilepsy and ectopic neurohypophysis in Joubert syndrome 23 diagnosed using SNVs/indels and structural variants pipelines on WGS data: a case report |
| Q94521055 | TALPID3 and ANKRD26 selectively orchestrate FBF1 localization and cilia gating |
| Q40522835 | TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23) |
| Q36874254 | Tethering of an E3 ligase by PCM1 regulates the abundance of centrosomal KIAA0586/Talpid3 and promotes ciliogenesis |
| Q48113259 | The ciliopathy protein TALPID3/KIAA0586 acts upstream of Rab8 activation in zebrafish photoreceptor outer segment formation and maintenance. |
| Q57168434 | The complexity of the cilium: spatiotemporal diversity of an ancient organelle |
| Q89809828 | The splice c.1815G>A variant in KIAA0586 results in a phenotype bridging short-rib-polydactyly and oral-facial-digital syndrome: A case report and literature review |
| Q36829130 | Utilizing the chicken as an animal model for human craniofacial ciliopathies. |
| Q57521498 | When is biopsy-proven TIN not simply TIN? Answers |
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