| scholarly article | Q13442814 |
| P50 | author | Peter Nürnberg | Q2077335 |
| Gudrun Nürnberg | Q28320150 | ||
| Enza Maria Valente | Q28322370 | ||
| Uwe Wolfrum | Q28468997 | ||
| Monte Westerfield | Q28913646 | ||
| Janine Altmüller | Q30004014 | ||
| Raoul Heller | Q30500482 | ||
| Michaela Thoenes | Q30500485 | ||
| Andreas Janecke | Q42884028 | ||
| Kym M Boycott | Q61638582 | ||
| Josephina Sampson | Q64496631 | ||
| Janine Altmüller | Q90297776 | ||
| Holger Thiele | Q110770756 | ||
| P2093 | author name string | Yang Wang | |
| Friederike Koerber | |||
| Carsten Bergmann | |||
| Andrew M Fry | |||
| Hanno J Bolz | |||
| Tobias Eisenberger | |||
| Mohammad R Toliat | |||
| Simon Staubach | |||
| Bodo B Beck | |||
| Malte P Bartram | |||
| Heike Göbel | |||
| Jennifer B Phillips | |||
| Jeremy Wegner | |||
| Antje Neugebauer | |||
| Lars Tebbe | |||
| Andrea Pannes | |||
| Yundong Wu | |||
| Andrea Hedergott | |||
| P2860 | cites work | Cone rod dystrophies | Q21202953 |
| Basal body stability and ciliogenesis requires the conserved component Poc1 | Q22001530 | ||
| Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin | Q24295284 | ||
| Poc1A and Poc1B act together in human cells to ensure centriole integrity | Q24299615 | ||
| ABCB6 mutations cause ocular coloboma | Q24301156 | ||
| Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways | Q24302034 | ||
| Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice | Q24304229 | ||
| A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies | Q24309499 | ||
| Intraflagellar transport molecules in ciliary and nonciliary cells of the retina | Q24595309 | ||
| The role of primary cilia in the development and disease of the retina | Q26822720 | ||
| On WD40 proteins: propelling our knowledge of transcriptional control? | Q27027360 | ||
| Trafficking to the ciliary membrane: how to get across the periciliary diffusion barrier? | Q27967655 | ||
| A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1 | Q28250958 | ||
| Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19 | Q28251106 | ||
| ABCB6 is dispensable for erythropoiesis and specifies the new blood group system Langereis | Q28257493 | ||
| Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome | Q28278080 | ||
| AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis | Q28509528 | ||
| Disruption of the retinitis pigmentosa 28 gene Fam161a in mice affects photoreceptor ciliary structure and leads to progressive retinal degeneration | Q28511973 | ||
| Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy | Q29144881 | ||
| The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia | Q29615741 | ||
| Allegro, a new computer program for multipoint linkage analysis | Q29618620 | ||
| The cone-dominant retina and the inner ear of zebrafish express the ortholog of CLRN1, the causative gene of human Usher syndrome type 3A. | Q30423944 | ||
| A method for WD40 repeat detection and secondary structure prediction | Q30432071 | ||
| ALOHOMORA: a tool for linkage analysis using 10K SNP array data | Q30980243 | ||
| Polycystic kidney disease | Q33709685 | ||
| Direct interaction of the Usher syndrome 1G protein SANS and myomegalin in the retina | Q33964607 | ||
| MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome | Q34078625 | ||
| Identifying the hotspots on the top faces of WD40-repeat proteins from their primary sequences by β-bulges and DHSW tetrads | Q34391209 | ||
| 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 | Q35050303 | ||
| POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism | Q36152933 | ||
| Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation | Q36152939 | ||
| Centrins in retinal photoreceptor cells: regulators in the connecting cilium | Q37105569 | ||
| Joubert syndrome: congenital cerebellar ataxia with the molar tooth | Q37257283 | ||
| WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia | Q37298127 | ||
| Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease. | Q37441075 | ||
| WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome. | Q37523506 | ||
| Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction | Q38981763 | ||
| Pix1 and Pix2 are novel WD40 microtubule-associated proteins that colocalize with mitochondria in Xenopus germ plasm and centrosomes in human cells | Q40037447 | ||
| Novel recessive cone-rod dystrophy caused by POC1B mutation. | Q43412862 | ||
| The RPGRIP1-related retinal phenotype in children | Q48971539 | ||
| IQCB1 mutations in patients with leber congenital amaurosis. | Q54408817 | ||
| Double homozygosity for mutations of AGL and SCN9A mimicking neurohepatopathy syndrome | Q81427327 | ||
| P433 | issue | 10 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | ciliopathy | Q203031 |
| retina homeostasis | Q15328108 | ||
| POC1 centriolar protein B | Q21149851 | ||
| POC1 centriolar protein B | Q29832364 | ||
| P304 | page(s) | 1153-62 | |
| P577 | publication date | 2014-10-01 | |
| P1433 | published in | Human Mutation | Q5937269 |
| P1476 | title | Mutation of POC1B in a severe syndromic retinal ciliopathy | |
| P478 | volume | 35 |
| Q42267886 | A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula |
| Q50001949 | Case of Cone Dystrophy with Normal Fundus Appearance Associated with Biallelic POC1B Variants |
| Q52647919 | Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy. |
| Q64266181 | Electron cryo-tomography provides insight into procentriole architecture and assembly mechanism |
| Q35769930 | Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome |
| Q53155688 | Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario. |
| Q41826312 | Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome. |
| Q58608214 | Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome |
| Q36148141 | Knockdown of poc1b causes abnormal photoreceptor sensory cilium and vision impairment in zebrafish |
| Q27310217 | LINE-1 Mediated Insertion into Poc1a (Protein of Centriole 1 A) Causes Growth Insufficiency and Male Infertility in Mice |
| Q28081713 | New frontiers: discovering cilia-independent functions of cilia proteins |
| Q30009241 | Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene |
| Q28119108 | PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly |
| Q60919495 | Review of Ocular Manifestations of Joubert Syndrome |
| Q40522835 | TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23) |
| Q41490178 | Unraveling the genetic cause of a consanguineous family with unilateral coloboma and retinoschisis: expanding the phenotypic variability of RAX mutations. |
| Q35253276 | WDSPdb: a database for WD40-repeat proteins |
| Q38628629 | Whole exome sequencing as a diagnostic tool for patients with ciliopathy-like phenotypes |
| Q47260540 | Whole-exome sequencing reveals POC5 as a novel gene associated with autosomal recessive retinitis pigmentosa |
| Q26750633 | Zebrafish: a vertebrate tool for studying basal body biogenesis, structure, and function |
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