Genes and molecular pathways underpinning ciliopathies

Cited by (1,001)

Items 601–700 of 1,001

1. From the sideline: Tissue‐specific nucleoporin function in health and disease, an update
   Ramona Jühlen, Birthe Fahrenkrog · 2023 · FEBS Letters
2. A polarized multicomponent foundation upholds ciliary central microtubules
   Qingxia Chen, Huijie Zhao, Xinwen Pan, Chuyu Fang, Benhua Qiu, Jingting Guo, Xiumin Yan, Xueliang Zhu · 2024 · Journal of Molecular Cell Biology
3. Interplay between respiratory viruses and cilia in the airways
   Katie L. Horton, Peter A. C. Wing, Claire L. Jackson, Christopher J. McCormick, Mary P. Carroll, Jane S. Lucas · 2025 · European Respiratory Review
4. Genome-wide suppressor screen identifies USP35/USP38 as therapeutic candidates for ciliopathies
   I-Chun Tsai, Kevin A. Adams, Joyce A. Tzeng, Omar Shennib, Perciliz L. Tan, Nicholas Katsanis · 2019 · JCI Insight
5. Structural brain anomalies in Cri-du-Chat syndrome: MRI findings in 14 patients and possible genotype-phenotype correlations
   R. Villa, V.G.C. Fergnani, Rosamaria Silipigni, Silvana Guerneri, Claudia Maria Cinnante, Andrea Guala, Cesare Danesino, Elisa Scola, Giorgio Conte, Monica Fumagalli et al. · 2020 · European Journal of Paediatric Neurology
6. OFD Type I syndrome: lessons learned from a rare ciliopathy
   Manuela Morleo, Brunella Franco · 2020 · Biochemical Society Transactions
7. Systematic evaluation of olfaction in patients with hereditary cystic kidney diseases/renal ciliopathies
   Mareike Dahmer‐Heath, Valentin Alexander Schriever, Sabine Kollmann, C. Schleithoff, Andrea Titieni, Metin Cetiner, Ludwig Patzer, Burkhard Tönshoff, Matthias Hansen, Petra Pennekamp et al. · 2020 · Journal of Medical Genetics
8. Frequency of carriers for rare recessive Mendelian diseases in a Brazilian cohort of 320 patients
   Caio Robledo D’Angioli Costa Quaio, Christine Hsiaoyun Chung, Sandro Félix Perazzio, Aurélio Pimenta Dutra, Caroline Mônaco Moreira, Gil Monteiro Novo‐Filho, Patricia Rossi Sacramento, Michele Groenner Penna, Rafaela Rogerio Floriano de Souza, Vívian Pedigone Cintra et al. · 2021 · American Journal of Medical Genetics Part C Seminars in Medical Genetics
9. The SON RNA splicing factor is required for intracellular trafficking structures that promote centriole assembly and ciliogenesis
   Alexander J. Stemm-Wolf, Eileen T O'Toole, Ryan M. Sheridan, Jacob T. Morgan, Chad G. Pearson · 2021 · Molecular Biology of the Cell
10. Biallelic variants in TTC21B as a rare cause of early‐onset arterial hypertension and tubuloglomerular kidney disease
    Eric Gregory Olinger, Pran Phakdeekitcharoen, Yaşar Çalışkan, Sarah E. Orr, Holly R. Mabillard, Charles William Pickles, Yincent Tse, Katrina M. Wood, John Andrew Sayer · 2022 · American Journal of Medical Genetics Part C Seminars in Medical Genetics
11. Uncovering cilia function in glial development
    Rachel M. Bear, Tamara Caspary · 2023 · Annals of Human Genetics
12. Primary cilia: a novel research approach to overcome anticancer drug resistance
    Kyung Ho Lee · 2023 · Frontiers in Molecular Biosciences
13. Human genetic associations of the airway microbiome in chronic obstructive pulmonary disease
    Jingyuan Gao, Yuqiong Yang, Xiaopeng Xiang, Huimin Zheng, Xinzhu Yi, Fengyan Wang, Zhenyu Liang, Dandan Chen, Weijuan Shi, Lingwei Wang et al. · 2024 · Respiratory Research
14. Cilia, mitochondria, and cardiac development
    Bill Chaudhry, Deborah J. Henderson · 2019 · Journal of Clinical Investigation
15. Whole exome sequencing reveals novel CEP104 mutations in a Chinese patient with Joubert syndrome
    Minna Luo, Li Hua Cao, Zongfu Cao, Siyu Ma, Yue Shen, Di Yang, Chao Lu, Zaisheng Lin, Zhimin Liu, Yufei Yu et al. · 2019 · Molecular Genetics & Genomic Medicine
16. TUBGCP4– associated microcephaly and chorioretinopathy
    Mariana Matioli da Palma, Fabiana Louise Motta, Guilherme Eiichi da Silva Takitani, Mariana Vallim Salles, Luiz Henrique Soares Gonçalves de Lima, Juliana Maria Ferraz Sallum · 2020 · Ophthalmic Genetics
17. Pituitary stalk interruption syndrome broadens the clinical spectrum of the TTC26 ciliopathy
    Odeya David, Marina Eskin‐Schwartz, Galina Ling, Vadim Dolgin, Eyal Kristal, Ela Benkowitz, Lidia Osyntsov, Libe Gradstein, Ohad S. Birk, Neta Loewenthal et al. · 2020 · Clinical Genetics
18. Targeted Ablation of Primary Cilia in Differentiated Dopaminergic Neurons Reduces Striatal Dopamine and Responsiveness to Metabolic Stress
    Rasem Mustafa, Chahinaz Rawas, Nadja Mannal, Grzegorz Kreiner, Björn Spittau, Katarzyna Kamińska, Rüstem Yilmaz, Christina Pötschke, Joachim Kirsch, Birgit Liss et al. · 2021 · Antioxidants
19. Ciliary Type III Adenylyl Cyclase in the VMH Is Crucial for High‐Fat Diet‐Induced Obesity Mediated by Autophagy
    Dong Joo Yang, Xiangbo Wu, Weina Wang, Yanfen Zhou, Zhenshan Wang · 2021 · Advanced Science
20. DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes
    Jonathan Marquez, Nina Mann, Kathya Arana, Engin Deniz, Weizhen Ji, Monica Konstantino, Emily Kathryn Mis, Charu Deshpande, Lauren Jeffries, Julie McGlynn et al. · 2020 · Journal of Medical Genetics
21. Primary cilia as mechanosensors in musculoskeletal homeostasis and disease
    Huibo Ti, Zhenyu Zhang, Xielin Yan, Hailin Hu, Keyue Zhang, Shuwen Shi, Jun‐Jie Wu, Hao Nie, Zheng‐Dong Yuan, Yuechun Chen et al. · 2025 · Pharmacological Research
22. EFCAB10 anchors AK8 to the radial spoke for proper ciliary motility
    Ting Song, Qingchao Li, Qian Lyu, Junkui Zhao, Xirui Zi, Shuo Ma, Jiajun Luo, Shushen Li, Shanshan Nai, Hongbin Liu et al. · 2025 · Proceedings of the National Academy of Sciences
23. Single-molecule imaging in the primary cilium
    Lucien E. Weiss, Julia F. Love, Joshua Yoon, Colin J. Comerci, Ljiljana Milenković, Tomoharu Kanie, Peter K. Jackson, Tim Stearns, Anna‐Karin Gustavsson · 2023 · Methods in cell biology
24. CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis
    Nafisa Nuzhat, Kristof Van Schil, Sandra Liakopoulos, Miriam Bauwens, Alfredo Dueñas Rey, Stephan Käseberg, Melanie Jäger, Jason R. Willer, Jennifer Winter, Hanh M. Truong et al. · 2023 · Journal of Clinical Investigation
25. CCP5 and CCP6 retain CP110 and negatively regulate ciliogenesis
    Yujuan Wang, Yuan Zhang, Xinyu Guo, Yiqiang Zheng, Xinjie Zhang, Shanshan Feng, Hui‐Yuan Wu · 2023 · BMC Biology
26. Defective airway intraflagellar transport underlies a combined motile and primary ciliopathy syndrome caused byIFT74mutations
    Mahmoud R. Fassad, Nisreen Rumman, Katrin Junger, Mitali Patel, James Thompson, Patricia Goggin, Marius Ueffing, Tina Beyer, Karsten Boldt, Jane S. Lucas et al. · 2023 · Human Molecular Genetics
27. Tau tubulin kinase 1 and 2 regulate ciliogenesis and human pluripotent stem cells–derived neural rosettes
    Lucia Binó, Lukáš Čajánek · 2023 · Scientific Reports
28. Genetic mutation of Cep76 results in male infertility due to abnormal sperm tail composition
    Brendan J. Houston, Donna Jo Merriner, G. Gemma Stathatos, Joseph Nguyen, Anne E. O’Connor, Alexandra Manuel Lopes, Donald F. Conrad, Mark A. Baker, Jessica E. M. Dunleavy, Moira K. O’Bryan · 2024 · Life Science Alliance
29. Parkinsonism Sac domain mutation in Synaptojanin-1 affects ciliary properties in iPSC-derived dopaminergic neurons
    Nisha Mohd Rafiq, Kenshiro Fujise, Martin Rosenfeld, Peng Xu, Yumei Wu, Pietro V. De Camilli · 2024 · Proceedings of the National Academy of Sciences
30. The Role of HDAC6 in Glioblastoma Multiforme: A New Avenue to Therapeutic Interventions?
    Francesco Spallotta, Barbara Illi · 2024 · Biomedicines
31. BBSome-deficient cells activate intraciliary CDC42 to trigger actin-dependent ciliary ectocytosis
    Avishek Prasai, Olha Ivashchenko, Kristyna Maskova, Sofiia Bykova, Marketa Schmidt Cernohorska, Ondřej Štěpánek, Martina Huranová · 2024 · EMBO Reports
32. Cholesterol ensures ciliary polycystin-2 localization to prevent polycystic kidney disease
    Takeshi Itabashi, Kosuke Hosoba, Tomoka Morita, Sotai Kimura, Kenji Yamaoka, Moe Hirosawa, Daigo Kobayashi, Hiroko Kishi, Kodai Kume, Hiroshi Itoh et al. · 2025 · Life Science Alliance
33. Tau tubulin kinase is required for spermatogenesis and development of motile cilia in planarian flatworms
    Robert Alan Magley, Labib Rouhana · 2019 · Molecular Biology of the Cell
34. Ankrd45 Is a Novel Ankyrin Repeat Protein Required for Cell Proliferation
    Yunsi Kang, Haibo Xie, Chengtian Zhao · 2019 · Genes
35. In vivo phenotypic and molecular characterization of retinal degeneration in mouse models of three ciliopathies
    Agnès Brun, Xiangxiang Yu, Cathy Obringer, Daniel Ajoy, Elodie Haser, Corinne Stoetzel, Michel Joseph Roux, Nadia Messaddeq, Hélène Dollfus, Vincent Marion · 2019 · Experimental Eye Research
36. xbx-4, a homolog of the Joubert syndrome gene FAM149B1, acts via the CCRK and RCK kinase cascade to regulate cilia morphology
    Ashish Kumar Maurya, Piali Sengupta · 2021 · Current Biology
37. STIL Acts as an Oncogenetic Driver in a Primary Cilia-Dependent Manner in Human Cancer
    Jingxian Li, Zikun Yang, Yuanjiong Qi, Xun Liu, Yang Liu, Xinyu Gao, Shuai Li, Jianqiang Zhu, Changwen Zhang, Eugenie Du et al. · 2022 · Frontiers in Cell and Developmental Biology
38. Molecular Diagnostics of Ciliopathies and Insights Into Novel Developments in Diagnosing Rare Diseases
    Kavindiya Modarage, Soniya A. Malik, Paraskevi Goggolidou · 2022 · British Journal of Biomedical Science
39. HaCaT cells as a model system to study primary cilia in keratinocytes
    Gabriela Blanchard, Christine Pich-Bavastro, Daniel Hohl · 2022 · Experimental Dermatology
40. Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach
    Sunayna K. Best, Jing Yu, Jenny Lord, Matthew Roche, Christopher Mark Watson, Roel P. J. Bevers, Alex Stuckey, Savita Madhusudhan, Rosalyn Jewell, Sanjay M. Sisodiya et al. · 2022 · Journal of Medical Genetics
41. Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes—Challenges for the Accurate Diagnosis
    Joanna Walczak‐Sztulpa, Anna Wawrocka, Cenna Doornbos, Ronald van Beek, Anna Sowińska‐Seidler, Aleksander Jamsheer, Ewelina Bukowska‐Olech, Anna Latos‐Bieleńska, Ryszard Grenda, Ernie M.H.F. Bongers et al. · 2022 · Frontiers in Genetics
42. Golgi Dysfunctions in Ciliopathies
    Justine Masson, Vincent El Ghouzzi · 2022 · Cells
43. The Role of Primary Cilia-Associated Phosphoinositide Signaling in Development
    Chuan Chen, Jinghua Hu, Kun Ling · 2022 · Journal of Developmental Biology
44. Context-dependent ciliary regulation of hedgehog pathway repression in tissue morphogenesis
    Sun‐Hee Hwang, Kevin Andrew White, Bandarigoda Nipunika Somatilaka, Baolin Wang, Saikat Mukhopadhyay · 2023 · PLoS Genetics
45. Role of the PAQosome in Regulating Arrangement of Protein Quaternary Structure in Health and Disease
    Marie‐Soleil Gauthier, Philippe Cloutier, Benoit Coulombe · 2018 · Advances in experimental medicine and biology
46. Lipid Modifications in Cilia Biology
    Kasturi Roy, Ethan P. Marin · 2019 · Journal of Clinical Medicine
47. Primary Cilium, An Unsung Hero in Maintaining Functional β-cell Population.
    Sukanya Lodh · 2019 · Europe PMC (PubMed Central)
48. TMEM216 Deletion Causes Mislocalization of Cone Opsin and Rhodopsin and Photoreceptor Degeneration in Zebrafish
    Yu Liu, Shuqin Cao, Miao Yu, Huaiyu Hu · 2020 · Investigative Ophthalmology & Visual Science
49. Update of genetic variants in CEP120 and CC2D2A—With an emphasis on genotype‐phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies
    Miguel Barroso‐Gil, Eric Gregory Olinger, Simon A. Ramsbottom, Elisa Molinari, Colin G. Miles, John Andrew Sayer · 2021 · Molecular Genetics & Genomic Medicine
50. Mendelian pathway analysis of laboratory traits reveals distinct roles for ciliary subcompartments in common disease pathogenesis
    Theodore G. Drivas, Anastasia Lucas, Xinyuan Zhang, Marylyn DeRiggi Ritchie · 2021 · The American Journal of Human Genetics
51. CCRK/CDK20 regulates ciliary retrograde protein trafficking via interacting with BROMI/TBC1D32
    Tatsuro Noguchi, Kentaro Nakamura, Yuuki Satoda, Yohei Katoh, Kazuhisa Nakayama · 2021 · PLoS ONE
52. Correction of cilia structure and function alleviates multi-organ pathology in Bardet–Biedl syndrome mice
    Hervé Husson, Nikolay O. Bukanov, Sarah E. Moreno, Mandy M. Smith, Brenda Richards, Cheng Yi Zhu, Tyler Picariello, Hye Jung Park, Bing Wang, Thomas A. Natoli et al. · 2020 · Human Molecular Genetics
53. Tau-tubulin kinase 2 restrains microtubule-depolymerizer KIF2A to support primary cilia growth
    Benk Vysloužil, David, Bernatík, Ondřej, Lánská, Eva, Renzová, Tereza, Binó, Lucia, Lacigová, Andrea, Drahošová, Tereza, Lánský, Zdeněk, Čajánek, Lukáš · 2025 · Cell Communication and Signaling
54. DPCD is a regulator of R2TP in ciliogenesis initiation through Akt signaling
    Yu-Qian Mao, Thiago Vargas Seraphim, Yimei Wan, Ruikai Wu, Étienne Coyaud, Muhammad Bin Munim, Antonio Mollica, Estelle M. N. Laurent, Mohan Babu, Vito Mennella et al. · 2024 · Cell Reports
55. Ultrastructure expansion microscopy (U‐ExM) of mouse and human kidneys for analysis of subcellular structures
    Ewa Langner, Pongpratch Puapatanakul, Rachel Pudlowski, Dema Yaseen Alsabbagh, Jeffrey H. Miner, Amjad Horani, Susan K. Dutcher, Steven L. Brody, Jennifer Wang, Hani Y. Suleiman et al. · 2024 · Cytoskeleton
56. Primary cilia formation requires the Leigh syndrome–associated mitochondrial protein NDUFAF2
    Chien‐Hui Lo, Zhiquan Liu, Siyu Chen, Frank Lin, Andrew R. Berneshawi, Charles Q. Yu, Euna B. Koo, Tia J. Kowal, Ke Ning, Yang Hu et al. · 2024 · Journal of Clinical Investigation
57. Collaborative effort: managing Bardet-Biedl syndrome in pediatric patients. Case series and a literature review
    Maria Nowak-Ciołek, Michał Ciołek, Agnieszka Tomaszewska, Friedhelm Hildebrandt, Thomas M. Kitzler, Konstantin Deutsch, Katharina Lemberg, Shirlee Shril, Maria Szczepańska, Agnieszka Zachurzok · 2024 · Frontiers in Endocrinology
58. The Interplay between Airway Cilia and Coronavirus Infection, Implications for Prevention and Control of Airway Viral Infections
    Xuyao Dai, Ruodan Xu, Ning Li · 2024 · Cells
59. Contribution of intraflagellar transport to compartmentalization and maintenance of the photoreceptor cell
    Tylor R. Lewis, Carson M. Castillo, Natalia V. Klementieva, Ying Hsu, Hao Ying, William J. Spencer, Arlene V. Drack, Gregory J. Pazour, Vadim Y. Arshavsky · 2024 · Proceedings of the National Academy of Sciences
60. The impact of ciliary length on the mechanical response of osteocytes to fluid shear stress
    Dong Ding, Ran Tian, Xiao Yong Yang, Zhe Ren, Zhi‐Cheng Jing, Xin-Tong Wu, Lianwen Sun · 2024 · Nitric Oxide
61. NEK8, a NIMA-family protein kinase at the core of the ciliary INV complex
    Joan Roig · 2025 · Cell Communication and Signaling
62. Genomic rare variant mechanisms for congenital cardiac laterality defect: A digenic model approach
    Archana Rai, Jonathan Klonowski, Bo Yuan, Karen J. Coveler, Zain Dardas, Iman Egab, Jiaoyang Xu, Philip J. Lupo, A. J. Agopian, Dennis Kostka et al. · 2025 · The American Journal of Human Genetics
63. Biallelic mutations in EXOC3L2 cause a novel syndrome that affects the brain, kidney and blood
    Adel Shalata, Supanun Lauhasurayotin, Zvi Leibovitz, Hongbing Li, Diane Hébert, Santhosh Dhanraj, Yarin Hadid, Mohammed Mahroum, Jacob Bajar, Sandro Egenburg et al. · 2018 · Journal of Medical Genetics
64. Artificial Intelligence Approaches to Assessing Primary Cilia
    Ruchi Bansal, Staci E. Engle, Tisianna K. Kamba, Kathryn M. Brewer, Wesley Lewis, Nicolas F. Berbari · 2021 · Journal of Visualized Experiments
65. The Hedgehog Signaling Pathway is Expressed in the Adult Mouse Hypothalamus and Modulated by Fasting
    Patrick J. Antonellis, Staci E. Engle, Kathryn M. Brewer, Nicolas F. Berbari · 2021 · eNeuro
66. Fetal ciliopathies: a retrospective observational single-center study
    Corinna Simonini, Anne Flöck, Brigitte Strizek, Andreas Mueller, Ulrich Gembruch, Annegret Geipel · 2021 · Archives of Gynecology and Obstetrics
67. ENKD1 is a centrosomal and ciliary microtubule‐associated protein important for primary cilium content regulation
    Fatmanur Tiryaki, Jovana Deretic, Elif Nur Firat‐Karalar · 2022 · FEBS Journal
68. The Role of Sulfation in Nematode Development and Phenotypic Plasticity
    Cátia Igreja, Ralf J. Sommer · 2022 · Frontiers in Molecular Biosciences
69. Myosin VI regulates ciliogenesis by promoting the turnover of the centrosomal/satellite protein OFD1
    Elisa Magistrati, Giorgia Maestrini, Carlos A Martínez Niño, Mariana Lince‐Faria, Galina V. Beznoussenko, Alexandre Mironov, Elena Maspero, Mónica Bettencourt‐Dias, Simona Polo · 2021 · EMBO Reports
70. Pervasive occurrence of splice-site-creating mutations and their possible involvement in genetic disorders
    Narumi Sakaguchi, Mikita Suyama · 2022 · npj Genomic Medicine
71. The C. elegans regulatory factor X (RFX) DAF-19M module: A shift from general ciliogenesis to cell-specific ciliary and behavioral specialization
    Soungyub Ahn, Heeseung Yang, Sangwon Son, Hyun Sik Lee, Dongjun Park, Hyunsoo Yim, Hee‐Jung Choi, Peter Swoboda, Junho Lee · 2022 · Cell Reports
72. Potassium Channel KCNH1 Activating Variants Cause Altered Functional and Morphological Ciliogenesis
    Giulia Napoli, Noemi Panzironi, Alice Traversa, Caterina Catalanotto, Valentina Pace, Francesco Petrizzelli, Agnese Giovannetti, Sara Lazzari, Carlo Cogoni, Marco Tartaglia et al. · 2022 · Molecular Neurobiology
73. Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia
    Madeline Louise Reilly, Noor Ul Ain, Mari Muurinen, Alice Tata, Céline Huber, Marleen Simon, Tayyaba Ishaq, Nick Shaw, Salla Rusanen, Minna Pekkinen et al. · 2020 · Journal of Bone and Mineral Research
74. TTC30A and TTC30B Redundancy Protects IFT Complex B Integrity and Its Pivotal Role in Ciliogenesis
    Felix Hoffmann, Sylvia Bolz, Katrin Junger, Franziska Klose, Timm Schubert, Franziska Woerz, Karsten Boldt, Marius Ueffing, Tina Beyer · 2022 · Genes
75. Cilia in the Striatum Mediate Timing-Dependent Functions
    Wedad Alhassen, Sammy Alhassen, Jiaqi Chen, Roudabeh Vakil Monfared, Amal Alachkar · 2022 · Molecular Neurobiology
76. Skeletal ciliopathy: pathogenesis and related signaling pathways
    Bo-Wen Lai, Heng Jiang, Yuan Gao, Xuhui Zhou · 2023 · Molecular and Cellular Biochemistry
77. Biallelic Variants in Seven Different Genes Associated with Clinically Suspected Bardet–Biedl Syndrome
    Hamed Nawaz, Mujahid, Sher Alam Khan, Farhana Bibi, Ahmed Waqas, Abdul Bari, Fardous, Niamatullah Khan, Nazif Muhammad, Amjad Ullah Khan et al. · 2023 · Genes
78. Mutational burden of XPNPEP3 leads to defects in mitochondrial complex I and cilia in NPHPL1
    Lingxiao Tong, Jia Rao, Chenxi Yang, Jie Xu, Yijun Lu, Yuchen Zhang, Xiaohui Cang, Shanshan Xie, Jianhua Mao, Pingping Jiang · 2023 · iScience
79. Rare loss-of-function variants reveal threshold and multifactorial inheritance of dextrocardia
    Zhongzhong Chen, Yun‐Qian Gao, Lu Lei, Nan Li, Pei Liu, Rui Peng, Lingling Liu, He‐Feng Huang, Qihua Fu, Haifa Hong et al. · 2023 · 中国科学通报：英文版
80. Cep131-Cep162 and Cby-Fam92 complexes cooperatively maintain Cep290 at the basal body and contribute to ciliogenesis initiation
    Zhimao Wu, Huicheng Chen, Yingying Zhang, Yaru Wang, Qiaoling Wang, Céline Augière, Yanan Hou, Yuejun Fu, Ying Peng, Bénédicte Durand et al. · 2024 · PLoS Biology
81. Flagellar incorporation of proteins follows at least two different routes in trypanosomes
    Laetitia Vincensini, Thierry Blisnick, Eloïse Bertiaux, Sebastian Hutchinson, Christina Georgikou, Cher‐Pheng Ooi, Philippe Bastin · 2017 · Biology of the Cell
82. Kruppel-Like Factor 4 represses osteoblast differentiation via ciliary Hedgehog signaling
    Yuto Takeuchi, Akiyoshi Kito, Shousaku Itoh, Haruna Naruse, Junji Fujikawa, Kadry M. Sadek, 茂久 秋山, Takashi Yamashiro, Satoshi Wakisaka, Makoto Abe · 2018 · Experimental Cell Research
83. Cell cycle-related kinase is a crucial regulator for ciliogenesis and Hedgehog signaling in embryonic mouse lung development
    Hankyu Lee, Hyuk Wan Ko · 2020 · BMB Reports
84. Gene therapy rescues olfactory perception in a clinically relevant ciliopathy model of Bardet–Biedl syndrome
    Chao Xie, Julien C. Habif, Cedric R. Uytingco, Kirill Ukhanov, Lian Zhang, Carlos de Celis, Val C. Sheffield, Jeffrey R. Martens · 2021 · The FASEB Journal
85. Primary cilia and lipid raft dynamics
    Yuhei Nishimura, Daishi Yamakawa, Katsunori Uchida, Takashi Shiromizu, Masatoshi Watanabe, Masaki Inagaki · 2021 · Open Biology
86. Structure of the human Meckel-Gruber protein Meckelin
    Dongliang Liu, Dandan Qian, Huaizong Shen, Deshun Gong · 2021 · Science Advances
87. Functions of cilia in cardiac development and disease
    Wasay Mohiuddin Shaikh Qureshi, Kathryn E. Hentges · 2023 · Annals of Human Genetics
88. Illumination of understudied ciliary kinases
    Raymond G. Flax, Peter Rosston, Cecilia Rocha, Brian M. Anderson, Jacob L. Capener, Thomas M. Durcan, David H. Drewry, Panagiotis Prinos, Alison D. Axtman · 2024 · Frontiers in Molecular Biosciences
89. Objectivizing issues in the diagnosis of complex rare diseases: lessons learned from testing existing diagnosis support systems on ciliopathies
    Carole Faviez, Xiaoyi Chen, Nicolas Garcelon, Mohamad Zaidan, Katy Billot, Friederike Petzold, Hassan Faour, Maxime Douillet, Jean‐Michel Rozet, Valérie Cormier‐Daire et al. · 2024 · BMC Medical Informatics and Decision Making
90. Metabolic reprogramming in polycystic kidney disease and other renal ciliopathies
    Sara Clerici, Alessandra Boletta · 2025 · EMBO Molecular Medicine
91. Cilia at the crossroad: convergence of regulatory mechanisms to govern cilia dynamics during cell signaling and the cell cycle
    Lukáš Čajánek, Sindija Smite, Olha Ivashchenko, Martina Huranová · 2025 · Cell & Bioscience
92. Morphological reprogramming of primary cilia length mitigates the fibrotic phenotype in fibroblasts across diverse fibrotic conditions
    Priyanka Verma, Bharat Yalavarthi, Swati Bhattacharyya, Dinesh Khanna, Johann Eli Gudjonsson, Lam C. Tsoi, Rebecca Wells, Rebecca L. Ross, Natalia A. Riobo‐Del Galdo, Francesco Del Galdo et al. · 2025 · Journal of Cell Science
93. Intraflagellar transport-associated CCDC92 is required for spermiogenesis and male fertility in mice
    Yue Lu, Xirui Zi, Qian Lyu, Qingchao Li, Hanxiao Yin, Yinghao Wang, Qijun Chen, Bingkun Kang, Shanshan Nai, Jun Yu Zhou et al. · 2025 · Journal of Molecular Cell Biology
94. Identification of a CCDC114 variant in a Han-Chinese patient with situs inversus
    Xiangyu Chen, Sheng Deng, Hong Xia, Lamei Yuan, Hongbo Xu, Shiyu Tang, Hao Deng · 2020 · Experimental and Therapeutic Medicine
95. Phosphoinositides: Functions in autophagy-related stress responses
    Aurore Claude‐Taupin, Étienne Morel · 2021 · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids
96. Cytoskeletal Protein 4.1G Is Essential for the Primary Ciliogenesis and Osteoblast Differentiation in Bone Formation
    Masaki Saito, Marina Hirano, Tomohiro Izumi, Yu Mori, Kentaro Ito, Yurika Saitoh, Nobuo Terada, Takeya Sato, Jun Sukegawa · 2022 · International Journal of Molecular Sciences
97. Trisomy 21 increases microtubules and disrupts centriolar satellite localization
    Bailey L McCurdy, Cayla E Jewett, Alexander J. Stemm-Wolf, Huy Nguyen Duc, Molishree Umesh Joshi, Joaquin Maximiliano Espinosa, Rytis Prekeris, Chad G. Pearson · 2022 · Molecular Biology of the Cell
98. Molecular basis underlying the ciliary defects caused by IFT52 variations found in skeletal ciliopathies
    Yamato Ishida, Koshi Tasaki, Yohei Katoh, Kazuhisa Nakayama · 2022 · Molecular Biology of the Cell
99. Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip
    Maja Dembić, Lars van Brakel Andersen, Martin Jakob Larsen, Inger Mechlenburg, Kjeld Søballé, Jens Michael Hertz · 2022 · Molecular Genetics and Genomics
100. Analysis of genome-wide knockout mouse database identifies candidate ciliopathy genes
     Kendall Higgins, Bret Alan Moore, Zorana Berberovic, Hibret A. Adissu, Mohammad Eskandarian, Ann Marie Flenniken, Andy Shao, Denise M. Imai, Dave A. Clary, Louise Lanoue et al. · 2022 · Scientific Reports