Photoreceptor Cilia and Retinal Ciliopathies

Cited by (195)

Items 101–195 of 195

1. Bex1 is essential for ciliogenesis and harbours biomolecular condensate-forming capacity
   Emi Hibino, Yusuke Ichiyama, Atsushi Tsukamura, Yosuke Senju, Takao Morimune, Masahito Ohji, Yoshihiro Maruo, Masaki Nishimura, Masaki Mori · 2022 · BMC Biology
2. Xenopus to the rescue: A model to validate and characterize candidate ciliopathy genes
   Venkatramanan G. Rao, Saurabh S. Kulkarni · 2021 · genesis
3. The Extraordinary Phenotypic and Genetic Variability of Retinal and Macular Degenerations: The Relevance to Therapeutic Developments
   Isabelle S. Audo, Marco Nassisi, Christina Zeitz, José‐Alain Sahel · 2023 · Cold Spring Harbor Perspectives in Medicine
4. Ciliogenesis defects after neurulation impact brain development and neuronal activity in larval zebrafish
   Percival P. D’Gama, Inyoung Jeong, Andreas Moe Nygård, Anh‐Tuan Trinh, Emre Yaksi, Nathalie Jurisch‐Yaksi · 2024 · iScience
5. The Role of Reactive Oxygen Species in Age-Related Macular Degeneration: A Comprehensive Review of Antioxidant Therapies
   Merve Kulbay, Kevin Yang Wu, Gurleen K. Nirwal, Paul Bélanger, Simon D. Tran · 2024 · Biomedicines
6. Beyond nephronophthisis: Retinal dystrophy in the absence of kidney dysfunction in childhood expands the clinical spectrum of CEP83 deficiency
   Bram C. F. Veldman, Willemijn F. E. Kuper, Marc R. Liliën, Janneke H. M. Schuurs-Hoeijmakers, Carlo Marcelis, Milan Phan, Ymkje Marije Hettinga, Herman E. Talsma, Peter M. van Hasselt, Hanneke A. Haijes · 2021 · American Journal of Medical Genetics Part A
7. Histone Deacetylase 6 (HDAC6) in Ciliopathies: Emerging Insights and Therapeutic Implications
   Zhiyi Wang, Xiaofan Zhu, Zhenzhou Huang, Kaidi Ren, Jie Ran, Yang Yang · 2025 · Advanced Science
8. Phosphoinositide phosphatases: Modifiers of phosphoinositide signaling in health and disease
   Elizabeth M. Davies, Emily I. Jones, Lisa M. Ooms, Rajendra Gurung, Meagan J. McGrath, Christina Anne Mitchell · 2025 · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids
9. A homozygous in-frame duplication within the LRRCT consensus sequence of CFAP410 causes cone-rod dystrophy, macular staphyloma and short stature
   Ning Chiu, Winston Lee, Pei‐Kang Liu, Sarah R. Levi, Hung-Hsi Wang, Nelson Chen, Eugene Yu‐Chuan Kang, Go Hun Seo, Hane Lee, Laura Liu et al. · 2021 · Ophthalmic Genetics
10. 28 novel mutations identified from 33 Chinese patients with cilia-related kidney disorders
    Nana Liang, Xuanyu Jiang, Lanlan Zeng, Zhuo Li, Desheng Liang, Lingqian Wu · 2019 · Clinica Chimica Acta
11. USP21 deubiquitinates DPYSL2 and enhances its centrosomal abundance to promote cilium formation
    Ting Song, Peng Zhou, Fengguo Zhang, Chunli Liu, Xueqing Han, Yiyang Yue, Mingzheng Hu, Shaodong Yan, Qingchao Li, Min Liu et al. · 2025 · Journal of genetics and genomics/Journal of Genetics and Genomics
12. The primary cilium as a multifunctional organelle: emerging roles and unanswered questions
    Denis Corbeil, Kristina Thamm, Jana Karbanová, Christine A. Fargeas, József Jászai · 2025 · Cell Communication and Signaling
13. Cilia-associated wound repair mediated by IFT88 in retinal pigment epithelium
    Ke Ning, Mohajeet B. Bhuckory, Chien‐Hui Lo, Brent E. Sendayen, Tia J. Kowal, Ming Chen, Ruchi Bansal, Kun‐Che Chang, Douglas Vollrath, Nicolas F. Berbari et al. · 2023 · Scientific Reports
14. Syndromic Retinitis Pigmentosa: A 15-Patient Study
    Ianne Pessoa Holanda, Priscila Hae Hyun Rim, Mara Sanches Guaragna, Vera Lúcia Gil‐da‐Silva‐Lopes, Carlos Eduardo Steiner · 2024 · Genes
15. The spermatogenesis-associated protein-7 (SPATA7) gene – an overview
    Chitra Kannabiran · 2020 · Ophthalmic Genetics
16. Ophthalmologic Manifestations in Bardet–Biedl Syndrome: Emerging Therapeutic Approaches
    Amaris Rosado, Ediel Rodriguez, Natalio Izquierdo · 2025 · Medicina
17. Foxn3 is required to suppress aberrant ciliogenesis in nonphotoreceptor retinal neurons
    Shuting Liu, Junyao Chen, Haiqiao Chen, Yanan Guo, Fa Yuan, Dongchang Xiao, Mengqing Xiang · 2025 · Proceedings of the National Academy of Sciences
18. Elevating fiber optics with biomimetic cilia for micro-contact sensing and multifunctional recognition
    Chunbo Su, Yuqi You, Yiwei Ma, Bo Guo, Tao Geng, Libo Yuan · 2025 · Photonics Research
19. Retinal dystrophy associated with a Kizuna (KIZ) mutation and a predominantly macular phenotype
    Yue Zhao, Razek Georges Coussa, Meghan J. DeBenedictis, Elias I. Traboulsi · 2019 · Ophthalmic Genetics
20. Loss of zebrafish dzip1 results in inappropriate recruitment of periocular mesenchyme to the optic fissure and ocular coloboma
    Sri Pratima Nandamuri, Sarah Lusk, Kristen M. Kwan · 2022 · PLoS ONE
21. Characterization of two novel knock-in mouse models of syndromic retinal ciliopathy carrying hypomorphic Sdccag8 mutations
    Zhi-Lin Ren, 电子科技大学医学院四川省人民医院临床医学检验中心, 四川 成都610072, 中国, Houbin Zhang, Lin Li, Zhenglin Yang, Li Jiang, 电子科技大学医学院四川省人民医院人类疾病基因研究四川省重点实验室, 四川 成都610072, 中国, 中国医学科学院防盲研究单元(2019RU026), 四川 成都610072, 中国 · 2022 · 动物学研究
22. TOPORS as a novel causal gene for Joubert syndrome
    Alanna Strong, Hui‐Qi Qu, Sinéad Cullina, Morgan L. McManus, Elaine H. Zackai, Joseph Glessner, Eimear E. Kenny, Hakon H. Hakonarson · 2023 · American Journal of Medical Genetics Part A
23. Pathogenicity and functional analysis of CFAP410 mutations causing cone-rod dystrophy with macular staphyloma
    Shaoqing Yang, Ya Li, Lin Yang, Qingge Guo, Ya You, Bo Lei · 2023 · Frontiers in Medicine
24. Patient stem cell-derived in vitro disease models for developing novel therapies of retinal ciliopathies
    Kamil Kruczek, Anand Swaroop · 2023 · Current topics in developmental biology/Current Topics in Developmental Biology
25. Proof-of-concept for multiple AON delivery by a single U7snRNA vector to restore splicing defects in ABCA4
    Nuria Suárez-Herrera, Iris B. Riswick, Irene Vázquez-Domínguez, Lonneke Duijkers, Dyah W. Karjosukarso, Davide Piccolo, Miriam Bauwens, Elfride B. W. De Baere, Michael E. Cheetham, Alejandro Garanto et al. · 2024 · Molecular Therapy
26. Mdm1 ablation results in retinal degeneration by specific intraflagellar transport defects of photoreceptor cells
    Youlim Son, Soo‐Jin Kim, Hwa-Young Kim, Junyeop Lee, Jae-Ryong Kim · 2022 · Cell Death and Disease
27. Control of protein and lipid composition of photoreceptor outer segments—Implications for retinal disease
    Markus Masek, Ruxandra Bachmann‐Gagescu · 2023 · Current topics in developmental biology/Current Topics in Developmental Biology
28. High prevalence of exon-13 variants in USH2A-related retinal dystrophies in Taiwanese population
    Yu‐Wei Lin, Yu-Shu Huang, Chien‐Yu Lin, Chao‐Wen Lin, Chen‐Chi Wu, Chang‐Hao Yang, Chung‐May Yang, Pei‐Lung Chen, Ta‐Ching Chen · 2024 · Orphanet Journal of Rare Diseases
29. Emc1 is essential for vision and zebrafish photoreceptor outer segment morphogenesis
    Tess McCann, Husvinee Sundaramurthi, Ciara M. Walsh, Sanamjeet Virdi, Yurisleidi Álvarez Álvarez, Beata Sapetto-Rebow, Ross F. Collery, Stephen P. Carter, Ailís L. Moran, Ruth Mulholland et al. · 2024 · The FASEB Journal
30. Biallelic Inactivating TUB Variants Cause Retinal Ciliopathy Impairing Biogenesis and the Structure of the Primary Cilium
    Lucia Ziccardi, Marcello Niceta, Emilia Stellacci, Andrea Ciolfi, Massimo Tatti, Alessandro Bruselles, Cecilia Mancini, Lucilla Barbano, Serena Cecchetti, Eliana Costanzo et al. · 2022 · International Journal of Molecular Sciences
31. Non-syndromic Retinal Degeneration Caused by Pathogenic Variants in Joubert Syndrome Genes
    Riccardo Sangermano, Eglė Galdikaitė, Kinga M. Bujakowska · 2023 · Advances in experimental medicine and biology
32. Wide-field OCT angiography for non-human primate retinal imaging
    Xiang Wei, Tristan T. Hormel, Laurie M. Renner, Martha D. Neuringer, Yali Jia · 2024 · Biomedical Optics Express
33. Lack of retinal degeneration in a Dram2 knockout mouse model
    Kuanxiang Sun, Junyao Chen, Yudi Fan, Jinrui Cai, Xiaoyan Jiang, Wenjing Liu, Xianjun Zhu · 2024 · Vision Research
34. Loss of cilia after neurulation impacts brain development and neuronal activity in larval zebrafish
    Percival P. D’Gama, Inyoung Jeong, Andreas Moe Nygård, Anh‐Tuan Trinh, Emre Yaksi, Nathalie Jurisch‐Yaksi · 2023 · bioRxiv (Cold Spring Harbor Laboratory)
35. Opto-mechano transduction in bioinspired cilia: A fiber-coupled micro-force sensor with tunable sensitivity
    Yuqi You, Di Tong, Wenjie Yang, Yong Feng, Chunbo Su, Chunlian Lu, Tao Geng · 2025 · Optical Fiber Technology
36. RP1 Dual-AAV Gene Therapy Preserves Retinal Structure and Ameliorates Photoreceptor Degeneration in a Murine Model of Retinitis Pigmentosa
    Fanfei Liu, Qiqi Li, Jing Su, Jiamei Fu, Xiaoyi Wu, Qiuxia Xu, Chengda Ren, Xiu Jin, Li Song, Fang Lu et al. · 2025 · Investigative Ophthalmology & Visual Science
37. Exon Skipping Therapy Restores Ciliary Function in USH2A -Related Retinal Degeneration
    Wuyi Li, Yamei Li, Yunyu Zhou, Yue Liu, Huixin Liu, Xing Wei, Zixi Sun, Xiaoxu Han, Xuan Zou, Hui Li et al. · 2025 · Investigative Ophthalmology & Visual Science
38. The Genetics of Primary Ciliary Dyskinesia – Advances and Limitations
    Amjad Horani · 2026 · Pediatric Pulmonology
39. Heparan Sulfate Proteoglycans: Master Regulators of Cellular Signaling, Tissue Development, and Neural Function
    James Melrose · 2026 · Journal of Neuroscience Research
40. Reduced cone photoreceptor function and subtle systemic manifestations in two siblings with loss of SCLT1
    Monika K. Grudzinska Pechhacker, Anna E. C. Molnar, Nadja Pekkola Pacheco, Håkan Thonberg, Laurence Quérat, Ulrika Birkeldh, Ann Nordgren, Anna Lindstrand · 2023 · Ophthalmic Genetics
41. Apparent but unconfirmed digenism in an Iranian consanguineous family with syndromic Retinal Disease
    Fahimeh Beigi, Marta Del Pozo‐Valero, Inmaculada Martín-Mérida, Irene Perea‐Romero, Masoud Reza Manaviat, Carmen Ayuso, Nasrin Ghasemi · 2021 · Experimental Eye Research
42. Identification of Regulators for Ciliary Disassembly by a Chemical Screen
    Zhijun Dong, Jia Xu, Junmin Pan · 2021 · ACS Chemical Biology
43. Primary Cilium Mediated Retinal Pigment Epithelium Maturation is Retarded in Ciliopathy Patient Cells
    Helen May‐Simera, Qin Wan, Balendu Shekhar Jha, Juliet Hartford, Vladimir Khristov, Roba Dejene, Justin Chang, Sarita Rani Patnaik, Quanlong Lü, Poulomi Banerjee et al. · 2018 · SSRN Electronic Journal
44. C. elegans PPEF-type phosphatase (Retinal degeneration C ortholog) functions in diverse classes of cilia to regulate nematode behaviors
    Marine Barbelanne, Yun Lu, Keerthana Kumar, Xinxing Zhang, Chunmei Li, Kwangjin Park, Adam Warner, X.Z. Shawn Xu, Shai Shaham, Michel R. Leroux · 2024 · Scientific Reports
45. GTPBP2 in-frame deletion in canine model with non-syndromic progressive retinal atrophy
    Leonardo Murgiano, Jessica K. Niggel, Eylem Emek Akyürek, Roberta Sacchetto, Geoffrey K. Aguirre · 2025 · Scientific Reports
46. Phenotypic spectrum and theoretical prime editing analysis of WDR19-mediated retinal degeneration
    Jorge Pincay, Bruna Lopes da Costa, Peter M. J. Quinn, Marilyn Rodriguez, Ashley Zhou, Maximilian D. Kong, Janet R. Sparrow, Stephen H. Tsang · 2025 · Documenta Ophthalmologica
47. Coordination of IFT20 With Other IFT Components Is Required for Ciliogenesis
    Weishu Wang, Ying Chun Shan, Ruming Liu, Dengwen Li, Jun Yu Zhou, Quanlong Lü, Huijie Zhao · 2025 · Journal of Clinical Laboratory Analysis
48. Ciliary Defects in Inherited Retinal Diseases
    Guizhi Guo, Lin Li, Jun Zhou, Jie Ran · 2026 · Advanced Genetics
49. AKAP signaling: physiological and pathophysiological roles and opportunities for novel therapeutic concepts
    Friedrich W. Herberg, Ester Paolocci, Enno Klußmann · 2026 · Physiological Reviews
50. Inherited retinal degenerations: clinical phenotypes and emerging therapies
    Katherine E. Uyhazi, Erin C. O'Neil, Tomás S. Alemán, Artur V. Cideciyan · 2026 · The Lancet
51. Lactate signaling and lactylation in retina: From physiological Warburg effect to pathological metabolic reprogramming
    Xiang Gu, Ai Zhuang, Jiayan Fan, Xuyang Wen, Ludi Yang, Renbing Jia, Peiwei Chai, Xianqun Fan · 2026 · Progress in Retinal and Eye Research
52. Recent Advances in Pediatric Ophthalmology
    Ken Kanwal Nischal · 2019 · Springer eBooks
53. A case report of retinal dystrophy in patients with PACS1 syndrome
    Jaime E. Brown, Breanna Aldred, Tyler D. Boulter, Rachel Sullivan, James N. Ver Hoeve, Bikash Ranjan Pattnaik, Melanie A. Schmitt · 2023 · Ophthalmic Genetics
54. Development and Developmental Disorders of the Forebrain
    Hans J. ten Donkelaar, Martin M. Y. Lammens, J.R.M. Cruysberg, Karin Kamphuis-van Ulzen, Akira Hori, Kohei Shiota, Kyoko Itoh, Michèl A.A.P. Willemsen · 2023 · Springer eBooks
55. Ciliopathies
    Peter Vogel, Laura J. Janke · 2021 · Wiley eBooks
56. Phototransduction in the Genomic Era: Mechanisms, Genetics and Therapeutic Advances
    John Grigg, Robyn V. Jamieson · 2025 · Clinical and Experimental Ophthalmology
57. Overarching Concepts and Mechanisms Affecting Phenotypes of Ocular Genetic Conditions
    Hannah L. Scanga, Ken Kanwal Nischal · 2017 · Current Genetic Medicine Reports
58. Rab28 is localised to photoreceptor outer segments, regulates outer segment shedding but is not linked to retinal degeneration in zebrafish
    Stephen P. Carter, Ailís L. Moran, David Matallanas, Gavin McManus, Oliver E. Blacque, Breandán N. Kennedy · 2019 · bioRxiv (Cold Spring Harbor Laboratory)
59. Genetic testing of various eye disorders
    Riccardo Sangermano, Hilary A. Scott, Naomi E. Wagner, Emily Place, Kinga M. Bujakowska · 2019 · Elsevier eBooks
60. An In-depth Review of Retinitis Pigmentosa Development and Pathologies Overtime in Patients
    Abdul Harris · 2019 · Human Biology
61. Investigating Disease Presentation and Mechanism in RP1L1-Associated Photoreceptor Degeneration
    Nicole C. L. Noel · 2021 · ERA: Education and Research Archive (University of Alberta)
62. The Special Senses
    Ali Moghimi, Teck Yee Khong · 2022 · Springer eBooks
63. Syndromic retinal disease
    Coppieters, Frauke, Elise Héon, Grudzinska Pechhacker, Monika K. · 2022 · Elsevier eBooks
64. Retinal Ciliopathy in the Patient with Transplanted Kidney: Case Report
    Ivona Bućan, Mirjana Bjeloš, Irena Marković, Diana Bućan · 2022 · International Journal of Molecular Sciences
65. Cholesterol and Phosphoinositides in Cilia Biology
    Steffen-Alexander Sailer, Martin D. Burkhalter, Melanie Philipp · 2023 · Advances in experimental medicine and biology
66. Rhodopsin Replacement in a I307N Mouse Model of ADRP by the Homology Independent Transgene Insertion Method
    Brian P. Rossmiller, Mozhdeh Bagheri · 2023
67. Rhodopsin Replacement in a I307N Mouse Model of ADRP by the Homology Independent Transgene Insertion Method
    Brian P. Rossmiller, Mozhdeh Bagheri · 2023
68. Lack of Retinal Degeneration in a Dram2 Knockout Mouse Model of Cone-Rod Dystrophy 21
    Junyao Chen, Kuanxiang Sun, Lu Liu, Zhihong Wang, Wenjing Liu, Yeming Yang, Xianjun Zhu · 2023 · SSRN Electronic Journal
69. Refractive errors in patients with Bardet Biedl syndrome
    Leyla Yavuz Saricay, Grace E. Baldwin, Eric Alan Moulton, Jose Efren Gonzalez, Farah Rajabi, David G. Hunter, Anne B. Fulton · 2024 · Ophthalmic Genetics
70. Role of Primary Cilia in the Eye
    Dominik Reichert, Ruchi Sharma, Helen May‐Simera, Kapil Bharti · 2025 · Advances in experimental medicine and biology
71. Zebrafish cdh23 Affects Rod Cell Phototransduction Through Regulating Ca2+ Transport and MAPK Signaling Pathway
    Xiaoying Zheng, Binling Xie, Dingrui Chen, Jifan Jiang, Ting Zeng, Lei Xiong, Qingying Shi, Hao Xie, Yisheng Cai, Jiaxin Liang et al. · 2025 · International Journal of Molecular Sciences
72. Trigeminal Neuralgia in a 12‐Month‐Old Boy With Dandy‐Walker Malformation and Homozygous Pathogenic TOPORS Variant
    Karen Lob, W. D. Brown · 2025 · American Journal of Medical Genetics Part A
73. Biallelic BAIAP3 Variants Are Associated with Isolated Retinitis Pigmentosa
    Viviana Cordeddu, Elisabetta Flex, Luca Mignini, Alessandro Bruselles, Serena Cecchetti, Elena Messina, Maria Beatrice Arasi, Mattia Carvetta, Emilio Straface, Alessandro Leone et al. · 2025 · International Journal of Molecular Sciences
74. Turquoise killifish naturally develop hallmarks of age-related macular degeneration with advancing age
    Nicole C. L. Noel, Eva‐Maria Breitenbach, Ryan B. MacDonald · 2025 · bioRxiv (Cold Spring Harbor Laboratory)
75. Expression of Dystroglycanopathy-Related Enzymes, POMGNT2 and POMGNT1, in the Mammalian Retina and 661W Cone-like Cell Line
    Cristina Quereda, Violeta Gómez‐Vicente, Mercedes Palmero, José Martín‐Nieto · 2025 · Biomedicines
76. Additional file 1 of High prevalence of exon-13 variants in USH2A-related retinal dystrophies in Taiwanese population
    Lin, Yu-Wei, Huang, Yu-Shu, Lin, Chien-Yu, Lin, Chao-Wen, Wu, Chen-Chi, Yang, Chang-Hao, Yang, Chung-May, Chen, Pei-Lung, Chen, Ta-Ching · 2024 · Figshare
77. Additional file 1 of Bex1 is essential for ciliogenesis and harbours biomolecular condensate-forming capacity
    Hibino, Emi, Yusuke Ichiyama, Atsushi Tsukamura, Senju, Yosuke, Takao Morimune, Ohji, Masahito, Maruo, Yoshihiro, Nishimura, Masaki, Masaki MORI · 2022 · Figshare
78. Caractérisation fonctionnelle des protéines des appendices du corps basal et de la zone de transition
    Céline Augière · 2017 · theses.fr (ABES)
79. Unravelling photoreceptor planar polarity and pathology using expansion microscopy
    Anna Verschueren · 2019 · theses.fr (ABES)
80. Caractérisation des bases moléculaires de la pléiotropie CEP290 et développement d'une thérapie antisens des mutations responsables d'amaurose congénitale de Leber (ACL10)
    Iris Barny · 2020 · theses.fr (ABES)
81. Non-invasive pharmacological treatment of retinal degeneration in the Bardet-Biedl syndrome and related ciliopathies
    Daniel Ajoy Moreno · 2020
82. Genetic deciphering of early onset and severe retinal dystrophies and establishment of genotype/phenotype correlations
    Andrea Zanetti · 2024 · theses.fr (ABES)
83. Tracer Techniques in Ophthalmology: Ocular Applications and Systemic Connections
    Xinxin Ye, Liting Zhao, Xiaodi Zhou, Wenyi Wu, Ye Lu, Yuanjun Li, Yewei Yin, Tu Hu, Dan Wen · 2026 · Diagnostics
84. Modeling the human retina in a dish: Advances and future directions
    Xue Du, Holly Y. Chen · 2026 · Handbook of clinical neurology
85. Bex1 is essential for ciliogenesis and harbours biomolecular condensate-forming capacity.
    絵美 日比野, Yusuke Ichiyama, 篤史 塚村, 孝夫 森宗, 正人 大路, 良浩 丸尾, 正樹 西村, 雅樹 森, Emi Hibino, Atsushi Tsukamura et al. · Institutional Repositories DataBase (IRDB)
86. Outer nuclear layer thinning as an in vivo biomarker for discriminating probable FTLD-tau from probable FTLD-TDP with PET-supported subtyping
    Zhengxi Zhang, Qinqin Zhang, Yuehua Chen, Ruijie Zeng, Meizhen Min, Haolun Sun, Yujie Lai, Yingying Shen, Yuting Yang, Ming Feng et al. · 2026 · Alzheimer s Research & Therapy
87. Evolving Roles of Primary Cilia in CNS Development and Neural Circuit Function: From Human Disease to Molecular Underpinnings
    A. Noble, Dan Doherty, Esther T. Stoeckli, Ruxandra Bachmann‐Gagescu · 2026 · Journal of Neuroscience
88. Research Progress on the Pathogenesis and Diagnostic and Therapeutic Potential of Ciliopathies Regulated by IFT172
    Dandan Chen, Yvjie Wang, Pengyao Ren, Yi Zhou, Chun Zhang, Waner Wang, Jiayi Geng, Yitong Chai, Jiajia Xie, S Q Li et al. · 2026 · Clinical Genetics
89. Nephronophthisis: Current clinical spectrum and molecular pathogenesis
    Ya Li, Siwei Yang, Xiying Chen, Jianhua Mao, Shanshan Xie · 2026 · FEBS Journal
90. The centrosome-cilium-centriolar satellite axis in neurodegenerative diseases
    Umut Şahin, Elif Nur Firat‐Karalar · 2026 · EMBO Reports
91. WDR34 Deficiency Disrupts Retrograde Intraflagellar Transport and Induces Unfolded Protein Response-Driven Inflammation and Retinal Degeneration
    Bo Jia, Jianan Xie, Xuebin Zhou, Wanqing Tong, Dan Li, Jinling Fu · 2026 · Investigative Ophthalmology & Visual Science
92. Mesenchymal drift in ciliopathy iPSC-derived RPE reveals a convergent pathogenic cell state
    Dominik Reichert, Sena Gül, Davide Ortolan, David M. McGaughey, Jair Montford, Jiwon Ryu, Alyssa S. Jeffrey, Colby F. Lewallen, Kati Veres, Rafael Villasmil et al. · 2026 · Cell Reports
93. The Spliceosome-Cilium Axis in Retinitis Pigmentosa: A Dual-Mechanism Linking Nuclear Splicing to Ciliary Failure in Photoreceptor Degeneration
    Zulvikar Syambani Ulhaq · 2026 · Differentiation
94. Possible Mechanical Stabilization of the Photoreceptor Connecting Cilium: From Molecular Scaffolds to Drug Repurposing
    Marianna E. Weener, Konstantin E. Kotliar · 2026 · Cells
95. Bi-Allelic PRKCZ Loss-of-Function Variants and Adult-Onset Retinitis Pigmentosa
    Viviana Cordeddu, Riccardo Sangermano, Sterre W. M. Mulder, Hafiz Muhammad Jafar Hussain, Elisabetta Flex, Luca Mignini, Marialetizia Motta, Alessandro Bruselles, Maria Beatrice Arasi, Serena Cecchetti et al. · 2026 · JAMA Ophthalmology