| scholarly article | Q13442814 |
| P356 | DOI | 10.1002/HUMU.22925 |
| P698 | PubMed publication ID | 26518474 |
| P50 | author | Scott D. Weatherbee | Q41879554 |
| P2093 | author name string | Natalia A Shylo | |
| Aaron Daluiski | |||
| Alejandro Iglesias | |||
| Kasey J Christopher | |||
| P2860 | cites work | Joubert Syndrome and related disorders | Q21202880 |
| The intraflagellar transport protein IFT20 is associated with the Golgi complex and is required for cilia assembly | Q24293516 | ||
| TCTN3 mutations cause Mohr-Majewski syndrome | Q24295300 | ||
| The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation | Q24300345 | ||
| Identification of the gene for oral-facial-digital type I syndrome | Q24536160 | ||
| Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes | Q24625476 | ||
| The base of the cilium: roles for transition fibres and the transition zone in ciliary formation, maintenance and compartmentalization | Q26825968 | ||
| Tectonic, a novel regulator of the Hedgehog pathway required for both activation and inhibition. | Q27919686 | ||
| A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition | Q28000057 | ||
| A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain | Q28000085 | ||
| Disruption of a ciliary B9 protein complex causes Meckel syndrome | Q28114969 | ||
| Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture | Q28255087 | ||
| The Meckel syndrome: clinicopathological findings in 67 patients | Q28269375 | ||
| A mouse model for Meckel syndrome reveals Mks1 is required for ciliogenesis and Hedgehog signaling | Q28507443 | ||
| Forward genetics uncovers Transmembrane protein 107 as a novel factor required for ciliogenesis and Sonic hedgehog signaling | Q28510279 | ||
| The graded response to Sonic Hedgehog depends on cilia architecture | Q28593048 | ||
| The primary cilium: a signalling centre during vertebrate development | Q29547197 | ||
| SIFT: Predicting amino acid changes that affect protein function | Q29547211 | ||
| Predicting the functional effect of amino acid substitutions and indels | Q34441875 | ||
| TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone. | Q35394882 | ||
| Bardet-Biedl syndrome. | Q36466434 | ||
| Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe | Q36695145 | ||
| Mutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndrome | Q37162571 | ||
| ClinVar: public archive of relationships among sequence variation and human phenotype | Q37661886 | ||
| Meckel-Gruber syndrome and the role of primary cilia in kidney, skeleton, and central nervous system development | Q38169941 | ||
| Adenylate cyclase regulates elongation of mammalian primary cilia | Q38258036 | ||
| Identification and characterization of polycystin-2, the PKD2 gene product | Q38320261 | ||
| C5orf42 is the major gene responsible for OFD syndrome type VI. | Q40147015 | ||
| Ciliary genes TBC1D32/C6orf170 and SCLT1 are mutated in patients with OFD type IX. | Q40153900 | ||
| Clinical utility gene card for: Bardet-Biedl syndrome | Q42701916 | ||
| Identification of a novel MKS locus defined by TMEM107 mutation | Q46434440 | ||
| The usefulness of whole-exome sequencing in routine clinical practice. | Q50657606 | ||
| Compound heterozygosity for a frame shift mutation and a likely pathogenic sequence variant in the planar cell polarity—ciliogenesis gene WDPCP in a girl with polysyndactyly, coarctation of the aorta, and tongue hamartomas. | Q52655245 | ||
| MutationTaster2: mutation prediction for the deep-sequencing age. | Q52877992 | ||
| Oral–facial–digital syndromes: Review and diagnostic guidelines | Q58327644 | ||
| The nephronophthisis complex. A clinicopathologic study in children | Q59281289 | ||
| [Bardet-Biedl syndrome: cilia and obesity - from genes to integrative approaches] | Q85945124 | ||
| P433 | issue | 2 | |
| P921 | main subject | cilium assembly | Q14916348 |
| Transmembrane protein 107 | Q21134416 | ||
| Transmembrane protein 107 | Q21992191 | ||
| P304 | page(s) | 155-159 | |
| P577 | publication date | 2015-10-31 | |
| P1433 | published in | Human Mutation | Q5937269 |
| P1476 | title | TMEM107 Is a Critical Regulator of Ciliary Protein Composition and Is Mutated in Orofaciodigital Syndrome | |
| P478 | volume | 37 |
| Q50421643 | Centrosomal protein Dzip1l binds Cby, promotes ciliary bud formation, and acts redundantly with Bromi to regulate ciliogenesis in the mouse |
| Q38994215 | Ciliopathies |
| Q47735897 | Ciliopathy Protein Tmem107 Plays Multiple Roles in Craniofacial Development |
| Q39176592 | Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes |
| Q92321503 | Loss of ciliary transition zone protein TMEM107 leads to heterotaxy in mice |
| Q37618918 | Open Sesame: How Transition Fibers and the Transition Zone Control Ciliary Composition. |
| Q39270051 | Photoreceptor outer segment as a sink for membrane proteins: hypothesis and implications in retinal ciliopathies |
| Q33654636 | The Ciliary Transition Zone: Finding the Pieces and Assembling the Gate |
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