Photoreceptor Cilia and Retinal Ciliopathies

Cites (320)

Items 201–320 of 320

1. A new gene, EVC2, is mutated in Ellis–van Creveld syndrome
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2. Dominant Mutations in RP1L1 Are Responsible for Occult Macular Dystrophy
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3. Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet–Biedl syndrome with situs inversus and insertional polydactyly
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4. Non-syndromic retinal ciliopathies: translating gene discovery into therapy
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5. A Splice-Site Mutation in a Retina-Specific Exon of BBS8 Causes Nonsyndromic Retinitis Pigmentosa
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6. BBS1 Mutations in a Wide Spectrum of Phenotypes Ranging From Nonsyndromic Retinitis Pigmentosa to Bardet-Biedl Syndrome
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7. Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia
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8. Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy
   Miriam Schmidts, Julia Vodopiutz, Sonia Christou-Savina, Claudio R. Cortés, Aideen M McInerney-Leo, Richard David Emes, Heleen H. Arts, Beyhan Tüysüz, Jason K. D’Silva, Paul J. Leo et al. · 2013 · The American Journal of Human Genetics
9. A HomozygousPDE6DMutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5E Protein to the Primary Cilium
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10. Leber congenital amaurosis: Clinical correlations with genotypes, gene therapy trials update, and future directions
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11. In search of triallelism in Bardet–Biedl syndrome
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12. Mutations in SPATA7 Cause Leber Congenital Amaurosis and Juvenile Retinitis Pigmentosa
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13. Segregation of a mutation in CNGB1 encoding the β-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa
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14. Subunit Composition of the Peripherin/rds−Rom-1 Disk Rim Complex from Rod Photoreceptors: Hydrodynamic Evidence for a Tetrameric Quaternary Structure
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15. The R109H Variant of Fascin-2, a Developmentally Regulated Actin Crosslinker in Hair-Cell Stereocilia, Underlies Early-Onset Hearing Loss of DBA/2J Mice
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16. Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy
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17. Joubert syndrome and related disorders
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18. IQCB1 Mutations in Patients with Leber Congenital Amaurosis
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19. Actin in the photoreceptor connecting cilium: immunocytochemical localization to the site of outer segment disk formation.
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20. Exome Sequencing and cis-Regulatory Mapping Identify Mutations in MAK, a Gene Encoding a Regulator of Ciliary Length, as a Cause of Retinitis Pigmentosa
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21. Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype
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22. Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy
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23. Arrestin Gene Mutations in Autosomal Recessive Retinitis Pigmentosa
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24. Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior–Løken syndrome
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25. Joubert Syndrome 2 (JBTS2) in Ashkenazi Jews Is Associated with a TMEM216 Mutation
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26. Evidence That the Penetrance of Mutations at the RP11 Locus Causing Dominant Retinitis Pigmentosa Is Influenced by a Gene Linked to the Homologous RP11 Allele
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27. Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization
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28. Mutations inC8ORF37cause Bardet Biedl syndrome (BBS21)
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29. Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin.
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30. Defective colour vision associated with a missense mutation in the human green visual pigment gene
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31. RP1L1Variants are Associated with a Spectrum of Inherited Retinal Diseases Including Retinitis Pigmentosa and Occult Macular Dystrophy
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32. Homozygosity Mapping Reveals Null Mutations in FAM161A as a Cause of Autosomal-Recessive Retinitis Pigmentosa
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33. Membrane assembly in retinal photoreceptors. III. Distinct membrane domains of the connecting cilium of developing rods
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34. CC2D2A, Encoding A Coiled-Coil and C2 Domain Protein, Causes Autosomal-Recessive Mental Retardation with Retinitis Pigmentosa
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35. Allelic Heterogeneity and Genetic Modifier Loci Contribute to Clinical Variation in Males with X-Linked Retinitis Pigmentosa Due to RPGR Mutations
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36. Mutations in the RP2 Gene Cause Disease in 10% of Families with Familial X-Linked Retinitis Pigmentosa Assessed in This Study
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37. Mutations in RAB28, Encoding a Farnesylated Small GTPase, Are Associated with Autosomal-Recessive Cone-Rod Dystrophy
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38. Mutations in C8orf37, Encoding a Ciliary Protein, are Associated with Autosomal-Recessive Retinal Dystrophies with Early Macular Involvement
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39. Autosomal-Recessive Early-Onset Retinitis Pigmentosa Caused by a Mutation in PDE6G, the Gene Encoding the Gamma Subunit of Rod cGMP Phosphodiesterase
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40. Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy Locus
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41. Renal-retinal syndromes: Association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus
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42. Polycystins and renovascular mechanosensory transduction
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43. Human tritanopia associated with a third amino acid substitution in the blue-sensitive visual pigment.
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44. Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome
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45. A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome
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46. Mutations in C2ORF71 Cause Autosomal-Recessive Retinitis Pigmentosa
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47. Essential and Synergistic Roles of RP1 and RP1L1 in Rod Photoreceptor Axoneme and Retinitis Pigmentosa
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48. Mutations in CSPP1, Encoding a Core Centrosomal Protein, Cause a Range of Ciliopathy Phenotypes in Humans
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49. Mutation of human retinal fascin gene (FSCN2) causes autosomal dominant retinitis pigmentosa.
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50. Recurrent CNVs and SNVs at the NPHP1 Locus Contribute Pathogenic Alleles to Bardet-Biedl Syndrome
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51. Senior–Løken syndrome: A syndromic form of retinal dystrophy associated with nephronophthisis
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52. B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis
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53. Molecular characterization of retinitis pigmentosa in Saudi Arabia.
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54. Nonsense Mutations in FAM161A Cause RP28-Associated Recessive Retinitis Pigmentosa
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55. Electroretinographic anomalies in mice with mutations in Myo7a, the gene involved in human Usher syndrome type 1B.
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56. A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies
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57. Mutations in human IFT140 cause non-syndromic retinal degeneration
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58. Discovery and Functional Analysis of a Retinitis Pigmentosa Gene, C2ORF71
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59. Protein-Truncation Mutations in the RP2 Gene in a North American Cohort of Families with X-Linked Retinitis Pigmentosa
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60. Identification and Functional Analysis of the Vision-Specific BBS3 (ARL6) Long Isoform
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65. Mutations in TOPORS Cause Autosomal Dominant Retinitis Pigmentosa with Perivascular Retinal Pigment Epithelium Atrophy
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70. A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy
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73. Mutations in TMEM231 cause Joubert syndrome in French Canadians
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74. WDR19 : An ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior‐Loken syndrome
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75. Variations in NPHP5 in Patients With Nonsyndromic Leber Congenital Amaurosis and Senior-Loken Syndrome
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76. MORM syndrome (mental retardation, truncal obesity, retinal dystrophy and micropenis), a new autosomal recessive disorder, links to 9q34
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77. Photoreceptor Sensory Cilium: Traversing the Ciliary Gate
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78. KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome
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79. Mutations in the gene coding for guanylate cyclase-activating protein 2 (GUCA1B gene) in patients with autosomal dominant retinal dystrophies
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80. ABCA4 and ROM1: Implications for Modification of the PRPH2 -Associated Macular Dystrophy Phenotype
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81. Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome
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82. Association of a Novel Mutation in the Retinol Dehydrogenase 12 (RDH12) Gene With Autosomal Dominant Retinitis Pigmentosa
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83. Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy
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84. Whole-Exome Sequencing Identifies KIZ as a Ciliary Gene Associated with Autosomal-Recessive Rod-Cone Dystrophy
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88. Transcriptional regulation of PRPF31 gene expression by MSR1 repeat elements causes incomplete penetrance in retinitis pigmentosa
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89. Meckel syndrome: what are the minimum diagnostic criteria?
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90. Bilateral macular atrophy in blue cone monochromacy (BCM) with loss of the locus control region (LCR) and part of the red pigment gene.
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91. Localization and expression of clarin-1, the Clrn1 gene product, in auditory hair cells and photoreceptors
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92. CLRN1 Is Nonessential in the Mouse Retina but Is Required for Cochlear Hair Cell Development
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93. TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein
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94. Biallelic mutation of protocadherin-21 (PCDH21) causes retinal degeneration in humans.
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114. Transport and localization of signaling proteins in ciliated cells
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115. Double homozygous waltzer and Ames waltzer mice provide no evidence of retinal degeneration.
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116. Photoreceptor disc morphogenesis: The classical evagination model prevails
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