Genes and molecular pathways underpinning ciliopathies

Reiter, Jeremy F., Leroux, Michel R.·2017·Nature Reviews Molecular Cell Biology

Cited by (1,001)

Items 301–400 of 1,001

  1. The Enigmatic Role of Lipids in Cilia Signaling
    Inna V. Nechipurenko · 2020 · Frontiers in Cell and Developmental Biology
  2. Teasing out function from morphology: Similarities between primary cilia and immune synapses
    Tiphaine Douanne, Jane C. Stinchcombe, Gillian M. Griffiths · 2021 · The Journal of Cell Biology
  3. CXCL12 targets the primary cilium cAMP/cGMP ratio to regulate cell polarity during migration
    Melody Atkins, Maud Wurmser, Michèle C. Darmon, Fiona Roche, Xavier Nicol, Christine Métin · 2023 · Nature Communications
  4. Pkd1l1-deficiency drives biliary atresia through ciliary dysfunction in biliary epithelial cells
    Yi Zou Lim, Min Zhu, Yunguan Wang, Tripti Sharma, Shannon Kelley, Estelle E. Oertling, Hao Zhu, Natasha Corbitt · 2024 · Journal of Hepatology
  5. CilioGenics: an integrated method and database for predicting novel ciliary genes
    Mustafa S Pir, Efe Begar, Ferhan Yenisert, Hasan C Demirci, Mustafa Korkmaz, Aslı Karaman, Sofia Tsiropoulou, Elif Nur Firat‐Karalar, Oliver E. Blacque, Şükrü Sadik Öner et al. · 2024 · Nucleic Acids Research
  6. Spatially patterned kidney assembloids recapitulate progenitor self-assembly and enable high-fidelity in vivo disease modeling
    Biao Huang, Pedro Medina, Jincan He, Zipeng Zeng, Sunghyun Kim, Janet Romo, Kari A. Koppitch, Chennan C. Zhang, Georgina Gyarmati, Yohan Park et al. · 2025 · Cell stem cell
  7. Genome sequencing for rightward hemispheric language dominance
    Amaia Carrión-Castillo, Lise Van der Haegen, Nathalie Tzourio‐Mazoyer, Tulya Kavaklioglu, Solveig Badillo, Marie Chavent A, Jérôme Saracco, Marc Brysbaert, Simon E. Fisher, Bernard M. Mazoyer et al. · 2019 · Genes Brain & Behavior
  8. KIF14 controls ciliogenesis via regulation of Aurora A and is important for Hedgehog signaling
    Petra Pejšková, Madeline Louise Reilly, Lucia Binó, Ondřej Bernatík, Linda Dolanská, Ranjani Sri Ganji, Zbyněk Zdráhal, Alexandre Benmerah, Lukáš Čajánek · 2020 · The Journal of Cell Biology
  9. Genetic compensation for cilia defects in cep290 mutants by upregulation of cilia-associated small GTPases
    Magdalena Cárdenas-Rodríguez, Christina Anne Austin-Tse, Judith G.M. Bergboer, Elisa Molinari, Yuya Sugano, Ruxandra Bachmann‐Gagescu, John Andrew Sayer, Iain A. S. Drummond · 2021 · Journal of Cell Science
  10. Biallelic DNAH9 mutations are identified in Chinese patients with defective left–right patterning and cilia-related complex congenital heart disease
    Weicheng Chen, Yuan Zhang, Libing Shen, Jialiang Zhu, Ke Cai, Zhouping Lu, Weijia Zeng, Jian‐Yuan Zhao, Xiangyu Zhou · 2022 · Human Genetics
  11. In vitro modeling and rescue of ciliopathy associated with IQCB1/NPHP5 mutations using patient-derived cells
    Kamil Kruczek, Zepeng Qu, Emily Welby, Hiroko Shimada, Suja Hiriyanna, Milton A. English, Wadih M. Zein, Brian P. Brooks, Anand Swaroop · 2022 · Stem Cell Reports
  12. Structures and functions of cilia during vertebrate embryo development
    Jeffrey D. Amack · 2022 · Molecular Reproduction and Development
  13. The molecular architecture of the ciliary transition zones
    Olivier Mercey, Souradip Mukherjee, Paul Guichard, Virginie Hamel · 2024 · Current Opinion in Cell Biology
  14. Olfactory Loss and Dysfunction in Ciliopathies: Molecular Mechanisms and Potential Therapies
    Cedric R. Uytingco, Warren W. Green, Jeffrey R. Martens · 2019 · Current Medicinal Chemistry
  15. Congenital Heart Defects and Ciliopathies Associated With Renal Phenotypes
    George C. Gabriel, Gregory J. Pazour, Cecilia W. Y. Lo · 2018 · Frontiers in Pediatrics
  16. BBS4 is required for IFT coordination and basal body number in mammalian olfactory cilia.
    Cedric R. Uytingco, Corey L. Williams, Chao Xie, Dana T. Shively, Warren W. Green, Kirill Ukhanov, Lian Zhang, Darryl Y. Nishimura, Val C. Sheffield, Jeffrey R. Martens · 2019 · Journal of Cell Science
  17. Polarity in Ciliate Models: From Cilia to Cell Architecture
    Helena Soares, Bruno Carmona, Sofia Nolasco, L.V. Melo · 2019 · Frontiers in Cell and Developmental Biology
  18. CiliaMiner: an integrated database for ciliopathy genes and ciliopathies
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  19. Neurodevelopmental disease mechanisms, primary cilia, and endosomes converge on the BLOC‐1 and BORC complexes
    Cortnie L. Hartwig, William J. Monis, Xun Chen, Dion K. Dickman, Gregory J. Pazour, Victor Faúndez · 2017 · Developmental Neurobiology
  20. Protein Syndesmos is a novel RNA-binding protein that regulates primary cilia formation
    Rosario Avolio, Aino I. Järvelin, Shabaz Mohammed, Ilenia Agliarulo, Valentina Condelli, Pietro Zoppoli, Giovanni Calice, Daniela Sarnataro, Elías Bechara, Gian Gaetano Tartaglia et al. · 2018 · Nucleic Acids Research
  21. Formation of the B9-domain protein complex MKS1–B9D2–B9D1 is essential as a diffusion barrier for ciliary membrane proteins
    Misato Okazaki, Takuya Kobayashi, Shuhei Chiba, Ryota Takei, Luxiaoxue Liang, Kazuhisa Nakayama, Yohei Katoh · 2020 · Molecular Biology of the Cell
  22. Intercellular and intracellular cilia orientation is coordinated by CELSR1 and CAMSAP3 in oviduct multi-ciliated cells
    Fumiko Matsukawa Usami, Masaki Arata, Dongbo Shi, Sanae Oka, Yoko Higuchi, Fadel Tissir, Masatoshi Takeichi, Toshihiko Fujimori · 2021 · Journal of Cell Science
  23. TissUExM enables quantitative ultrastructural analysis in whole vertebrate embryos by expansion microscopy
    Emmanuelle Steib, Rob Tetley, Romain F. Laine, Dominic P. Norris, Yanlan Mao, Julien Vermot · 2022 · Cell Reports Methods
  24. Three-dimensional flagella structures from animals’ closest unicellular relatives, the Choanoflagellates
    Justine M. Pinskey, Adhya Lagisetty, Long Gui, Nhan Phan, Evan Reetz, Amirrasoul Tavakoli, Gang Fu, Daniela Nicastro · 2022 · eLife
  25. CEP104/FAP256 and associated cap complex maintain stability of the ciliary tip
    Thibault Legal, Mireya Parra, Maxwell Tong, Corbin Steven Black, Ewa Joachimiak, Melissa Valente-Paterno, Karl F. Lechtreck, Jacek Gaertig, Khanh Huy Bui · 2023 · The Journal of Cell Biology
  26. The Primary Cilium: Emerging Role as a Key Player in Fibrosis
    Maria Eugenia Teves, Jerome F. Strauss, Paulene Sapao, Bo Shi, John Varga · 2019 · Current Rheumatology Reports
  27. The C7orf43/TRAPPC14 component links the TRAPPII complex to Rabin8 for preciliary vesicle tethering at the mother centriole during ciliogenesis
    Adrian A. Cuenca, Christine Insinna, Huijie Zhao, Peter John, Matthew A. Weiss, Quanlong Lü, Vijay Walia, Suzanne I. Specht, Selvambigai Manivannan, Jimmy K. Stauffer et al. · 2019 · Journal of Biological Chemistry
  28. The TRPP2-dependent channel of renal primary cilia also requires TRPM3
    Steven J. Kleene, Brian J. Siroky, Julio Alberto Landero Figueroa, Bradley P. Dixon, Nolan W. Pachciarz, Lu Lu, Nancy K. Kleene · 2019 · PLoS ONE
  29. Family-based exome sequencing and case-control analysis implicate CEP41 as an ASD gene
    Ashok Patowary, So Yeon Won, Shin Ji Oh, Ryan Nesbitt, Marilyn Archer, Debbie A. Nickerson, Wendy H. Raskind, Raphael Bernier, Ji Eun Lee, Zoran Brkanac · 2019 · Translational Psychiatry
  30. The Construction of Retinal Pigment Epithelium Sheets with Enhanced Characteristics and Cilium Assembly Using iPS Conditioned Medium and Small Incision Lenticule Extraction Derived Lenticules
    Jianing Gu, Yini Wang, Zekai Cui, Hong Li, Shenyang Li, Xu Yang, Xin Yan, Chengcheng Ding, Shibo Tang, Jiansu Chen · 2019 · Acta Biomaterialia
  31. A Proximity Mapping Journey into the Biology of the Mammalian Centrosome/Cilium Complex
    Melis D. Arslanhan, Dila Gulensoy, Elif Nur Firat‐Karalar · 2020 · Cells
  32. Primary cilia in corneal development and disease
    Ting Song, 山东师范大学生命科学学院,山东省高校细胞生物学协同创新中心,山东省动物抗性生物学重点实验室,生命与健康研究院,山东 济南 250014,中国, Jun Zhou, 南开大学生命科学学院,药物化学生物学国家重点实验室,天津 300071,中国 · 2020 · 动物学研究
  33. Ppargc1a Controls Ciliated Cell Development by Regulating Prostaglandin Biosynthesis
    Joseph M. Chambers, Amanda Addiego, Ana Lidia Flores‐Mireles, Rebecca A. Wingert · 2020 · Cell Reports
  34. The Deubiquitinating Enzyme Ataxin-3 Regulates Ciliogenesis and Phagocytosis in the Retina
    Vasileios Toulis, Sílvia García-Monclús, Carlos de la Peña-Ramírez, Rodrigo Arenas-Galnares, Josep F. Abril, Sokol V. Todi, Naheed Wali Khan, Alejandro Garanto, Maria do Carmo Costa, Gemma Marfany · 2020 · Cell Reports
  35. CEP164 is essential for efferent duct multiciliogenesis and male fertility
    Mohammed Hoque, Danny Chen, Rex A. Hess, Feng‐Qian Li, Ken‐Ichi Takemaru · 2021 · Reproduction
  36. Cytoplasmic factories for axonemal dynein assembly
    Stephen M. King · 2021 · Journal of Cell Science
  37. Paramecium, a Model to Study Ciliary Beating and Ciliogenesis: Insights From Cutting-Edge Approaches
    Khaled Bouhouche, Megan Smith Valentine, P. Le Borgne, Michel Lemullois, Junji Yano, Sukanya Lodh, A. Nabi, Anne‐Marie Tassin, Judith L. Van Houten · 2022 · Frontiers in Cell and Developmental Biology
  38. Pathophysiology of Primary Cilia: Signaling and Proteostasis Regulation
    Emanuela Senatore, Rosa Iannucci, Francesco Chiuso, Rossella Delle Donne, Laura Rinaldi, Antonio Feliciello · 2022 · Frontiers in Cell and Developmental Biology
  39. Joubert syndrome: Molecular basis and treatment
    Lıdvana Spahıu, Emir Behluli, Violeta Grajçevci-Uka, Thomas Liehr, Gazmend Temaj · 2024 · PubMed Central
  40. Regulation of flagellar assembly and length in Chlamydomonas by LF4, a MAPK‐related kinase
    Yingrui Wang, Yahui Ren, Junmin Pan · 2019 · The FASEB Journal
  41. Spectrin-based membrane skeleton supports ciliogenesis
    Ru Jia, Dongdong Li, Ming Li, Yongping Chai, Yufan Liu, Zhongyun Xie, Wenxin Shao, Chao Xie, Liuju Li, Xiaoshuai Huang et al. · 2019 · PLoS Biology
  42. Ciliary and extraciliary Gpr161 pools repress hedgehog signaling in a tissue-specific manner
    Sun‐Hee Hwang, Bandarigoda Nipunika Somatilaka, Kevin White, Saikat Mukhopadhyay · 2021 · eLife
  43. The Arf GEF GBF1 and Arf4 synergize with the sensory receptor cargo, rhodopsin, to regulate ciliary membrane trafficking
    Jing Wang, Theresa Fresquez, Vasundhara Kandachar, Dusanka Deretic · 2017 · Journal of Cell Science
  44. NPHP proteins are binding partners of nucleoporins at the base of the primary cilium
    Teresa Lynne Blasius, Daisuke Takao, Kristen J. Verhey · 2019 · PLoS ONE
  45. UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism
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  46. Moonlighting of mitotic regulators in cilium disassembly
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  47. Danger perception and stress response through an olfactory sensor for the bacterial metabolite hydrogen sulfide
    Kohei Koike, Seung‐Jun Yoo, Katherin Bleymehl, Masayo Omura, Bolek Zapiec, Martina M. Pyrski, Thomas S. Blum, Mona Khan, Zhaodai Bai, Trese Leinders‐Zufall et al. · 2021 · Neuron
  48. Autophagy and Ciliogenesis
    Yasuhiro Yamamoto, Noboru Mizushima · 2021 · JMA Journal
  49. The Transformation of the Centrosome into the Basal Body: Similarities and Dissimilarities between Somatic and Male Germ Cells and Their Relevance for Male Fertility
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  50. ENKD1 promotes CP110 removal through competing with CEP97 to initiate ciliogenesis
    Ting Song, Yunfan Yang, Peng Zhou, Jie Ran, Liang Zhang, Xiaofan Wu, Wei Dong Xie, Tao Zhong, Hongbin Liu, Min Liu et al. · 2022 · EMBO Reports
  51. Centrosomal protein Dzip1l binds Cby, promotes ciliary bud formation, and acts redundantly with Bromi to regulate ciliogenesis in the mouse
    Chengbing Wang, Jia Li, Ken‐Ichi Takemaru, Xiaogang Jiang, Guoqiang Xu, Baolin Wang · 2018 · Development
  52. Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion
    Marie Alice Dupont, Camille Humbert, Céline Huber, Quentin Siour, Ida Chiara Guerrera, Vincent A. Jung, Anni Christensen, Aurore Pouliet, Meriem Garfa‐Traoré, Patrick Nitschké et al. · 2019 · Human Molecular Genetics
  53. Primary cilia promote the differentiation of human neurons through the WNT signaling pathway
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  54. Human asthenozoospermia: Update on genetic causes, patient management, and clinical strategies
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  55. GPR45 modulates Gα s at primary cilia of the paraventricular hypothalamus to control food intake
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  56. Post-translational polymodification of β1-tubulin regulates motor protein localization in platelet production and function
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  57. Impact of Motile Ciliopathies on Human Development and Clinical Consequences in the Newborn
    Rachael M. Hyland, Steven L. Brody · 2021 · Cells
  58. Modeling Human Primary Microcephaly With hiPSC-Derived Brain Organoids Carrying CPAP-E1235V Disease-Associated Mutant Protein
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  59. Structure of the ciliogenesis-associated CPLANE complex
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  60. Roles of the actin cytoskeleton in ciliogenesis
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  61. Cilia regulate meiotic recombination in zebrafish
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  64. Targeted deletion of the AAA-ATPase Ruvbl1 in mice disrupts ciliary integrity and causes renal disease and hydrocephalus
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  65. Ciliopathy-Associated Protein Kinase ICK Requires Its Non-Catalytic Carboxyl-Terminal Domain for Regulation of Ciliogenesis
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  66. TALPID3 and ANKRD26 selectively orchestrate FBF1 localization and cilia gating
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  67. Brain Transcriptomics of Wild and Domestic Rabbits Suggests That Changes in Dopamine Signaling and Ciliary Function Contributed to Evolution of Tameness
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  68. ADCY3, neuronal primary cilia and obesity
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  69. The complexity of the cilium: spatiotemporal diversity of an ancient organelle
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  70. Circadian oscillation in primary cilium length by clock genes regulates fibroblast cell migration
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  71. Primary ciliary dyskinesia: a major player in a bigger game
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  72. MOF-mediated histone H4 Lysine 16 acetylation governs mitochondrial and ciliary functions by controlling gene promoters
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  73. GRK2 kinases in the primary cilium initiate SMOOTHENED-PKA signaling in the Hedgehog cascade
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  74. Inhaled DNAI1 mRNA therapy for treatment of primary ciliary dyskinesia
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  75. Primary cilia and cancer: a tale of many faces
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  76. The ins and outs of the Arf4-based ciliary membrane-targeting complex
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  77. NRF2-dependent gene expression promotes ciliogenesis and Hedgehog signaling
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  78. Building a ciliated epithelium: Transcriptional regulation and radial intercalation of multiciliated cells
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  79. Interpreting the pathogenicity of Joubert syndrome missense variants in Caenorhabditis elegans
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  80. On the Wrong Track: Alterations of Ciliary Transport in Inherited Retinal Dystrophies
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  81. ARL3 and ARL13B GTPases participate in distinct steps of INPP5E targeting to the ciliary membrane
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  82. Actin-based regulation of ciliogenesis – The long and the short of it
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  83. Mutation of NEKL-4/NEK10 and TTLL genes suppress neuronal ciliary degeneration caused by loss of CCPP-1 deglutamylase function
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  84. The ciliary Frizzled-like receptor Tmem67 regulates canonical Wnt/β-catenin signalling in the developing cerebellum via Hoxb5
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  85. Motile ciliogenesis and the mitotic prism
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  86. Limitations and opportunities in the pharmacotherapy of ciliopathies
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  87. Human placental mesenchymal stromal cells are ciliated and their ciliation is compromised in preeclampsia
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  88. Evolutionary conservation of centriole rotational asymmetry in the human centrosome
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  89. Ciliary signaling in stem cells in health and disease: Hedgehog pathway and beyond
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  90. IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans
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  91. Choroid plexuses carry nodal-like cilia that undergo axoneme regression from early adult stage
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  92. Oxidative Stress Induces Skin Pigmentation in Melasma by Inhibiting Hedgehog Signaling
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  93. Exploring pancreatic beta-cell subgroups and their connectivity
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  94. A comprehensive analysis of Rab GTPases reveals a role for Rab34 in serum starvation-induced primary ciliogenesis
    Mai E. Oguchi, Koki Okuyama, Yuta Homma, Mitsunori Fukuda · 2020 · Journal of Biological Chemistry
  95. Positive regulation of Hedgehog signaling via phosphorylation of GLI2/GLI3 by DYRK2 kinase
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  96. Mutations in NEK1 cause ciliary dysfunction as a novel pathogenic mechanism in amyotrophic lateral sclerosis
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  97. Analysis of potential genes associated with primary cilia in bladder cancer
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  98. Ciliary IFT88 Protects Coordinated Adolescent Growth Plate Ossification From Disruptive Physiological Mechanical Forces
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  99. Primary cilia in the postnatal brain: Subcellular compartments for organizing neuromodulatory signaling
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  100. The Intimate Connection Between Lipids and Hedgehog Signaling
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