Genes and molecular pathways underpinning ciliopathies

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

DOI 10.1038/nrm.2017.60

Cited by (1,001)

Items 801–900 of 1,001

The evolutionary foundations of transcriptional regulation in animals
Maxwell C. Coyle, Nicole King · 2025 · Nature Reviews Genetics
Centriole planar polarity assessment in Drosophila wings
Sergio Garrido-Jiménez, Ángel Román, Alberto M. Alvarez, José María Carvajal-González · 2018 · Development
Association of Genetic and Environmental Factors with Non-Alcoholic Fatty Liver Disease in a Chinese Han Population
Zheng Li, Cheng-Yin Ye, Li Wang, Jinmei Li, Lei Yang · 2020 · International Journal of Environmental Research and Public Health
Evaluation of a Tubulin‐Targeted Pyrimidine Indole Hybrid Molecule as an Anticancer Agent
Chandra Bose, Priyanjalee Banerjee, Jayanta Kundu, Biswadeb Dutta, Indranil Ghosh, Shreya Sinha, Argha Ghosh, Abhishek Barua, Shalini Gupta, Ujjal Baran Das et al. · 2020 · ChemistrySelect
Retinal dystrophy as part of TTC21B-associated ciliopathy
Tamar Ben‐Yosef, Nurit Assia Batzir, Tahleel Ali-Nasser, Miriam Ehrenberg · 2021 · Ophthalmic Genetics
CEP104 and CEP290; Genes with Ciliary Functions Cause Intellectual Disability in Multiple Families
Shahrouz Khoshbakht, Maryam Beheshtian, Zohreh Fattahi, Niloofar Bazazzadegan, Elham Parsimehr, Mahsa Fadaee, Raheleh Vazehan, Mehrshid Faraji Zonooz, Ayda Abolhassani, Mina Makvand et al. · 2021 · Archives of Iranian Medicine
A Novel Homozygous Variant of TMEM231 in a Case With Hypoplasia of the Cerebellar Vermis and Polydactyly
Tao Wang, Yu‐Xing Liu, Fang-Mei Luo, Yi Dong, Yali Li, Liang‐Liang Fan · 2021 · Frontiers in Pediatrics
Differential requirements for the Eps15 homology domain proteins EHD4 and EHD2 in the regulation of mammalian ciliogenesis
Tyler Jones, Naava Naslavsky, Steve Caplan · 2022 · Traffic
LUZP1: A new player in the actin-microtubule cross-talk
João Gonçalves · 2022 · European Journal of Cell Biology
Behavioral Phenotyping of Bbs6 and Bbs8 Knockout Mice Reveals Major Alterations in Communication and Anxiety
Nathalie Rödig, Kristin Sellmann, Malena dos Santos Guilherme, Vu Thu Thuy Nguyen, Dirk Cleppien, Albrecht Stroh, Helen May‐Simera, Kristina Endres · 2022 · International Journal of Molecular Sciences
Dental Anomalies in Ciliopathies: Lessons from Patients with BBS2, BBS7, and EVC2 Mutations
Piranit Nik Kantaputra, Prapai Dejkhamron, Rekwan Sittiwangkul, Kamornwan Katanyuwong, Chumpol Ngamphiw, Nuntigar Sonsuwan, Worrachet Intachai, Sissades Tongsima, Philip L. Beales, Worakanya Buranaphatthana · 2022 · Genes
Impact of 5-HT6 Receptor Subcellular Localization on Its Signaling and Its Pathophysiological Roles
Séverine Chaumont‐Dubel, Sonya Galant, Matthieu Prieur, Tristan Bouschet, Joël Bockaert, Philippe Marin · 2023 · Cells
Outer-arm dynein light chain LC1 is required for normal motor assembly kinetics, ciliary stability, and motility
Miho Sakato-Antoku, Stephen M. King · 2023 · Molecular Biology of the Cell
Inherently disordered regions of axonemal dynein assembly factors
Stephen M. King · 2023 · Cytoskeleton
An intraflagellar transport dependent negative feedback regulates the MAPKKK DLK-1 to protect cilia from degeneration
Yue Sun, Yishi Jin · 2023 · Proceedings of the National Academy of Sciences
Primary cilia are critical for tracheoesophageal septation
Lindsey Avery Fitzsimons, Evangelia Tasouri, Marc A. Willaredt, Daniel Stetson, Christian Gojak, Joachim Kirsch, Humphrey Gardner, Karin Gorgas, Kerry Lee Tucker · 2023 · Developmental Dynamics
The MBO2/FAP58 heterodimer stabilizes assembly of inner arm dynein b and reveals axoneme asymmetries involved in ciliary waveform
Gang Fu, Katherine Augspurger, Jason Sakizadeh, Jaimee Reck, Raqual Bower, Douglas Tritschler, Long Gui, Daniela Nicastro, Mary E. Porter · 2024 · Molecular Biology of the Cell
IFT80 mutations cause a novel complex ciliopathy phenotype with retinal degeneration
J. Moran, K. G. Sanderson, Jason T. Maynes, Anjali Vig, Vaishnavi Batmanabane, P. Kannu, Erika Sendra Tavares, Ajoy Vincent, Elise Héon · 2018 · Clinical Genetics
MTOC Organization and Competition During Neuron Differentiation
Jason Y. Tann, Adrian Walton Moore · 2019 · Results and problems in cell differentiation
WDR34 mutation from anencephaly patients impaired both SHH and PCP signaling pathways
Hailing Yin, Rui Peng, Zhongzhong Chen, Hongyan Wang, Ting Zhang, Yufang Zheng · 2020 · Journal of Human Genetics
Novel Compound Heterozygous Variants in MKS1 Leading to Joubert Syndrome
Minna Luo, Ruida He, Zaisheng Lin, Yue Shen, Guangyu Zhang, Zongfu Cao, Chao Lu, Dan Meng, Jing Zhang, Xu Ma et al. · 2020 · Frontiers in Genetics
Novel compound heterozygous CPLANE1 variants identified in a Chinese family with Joubert syndrome
Cheng Zhang, Zhenchao Sun, Lulu Xu, Fengyuan Che, Shiguo Liu · 2021 · International Journal of Developmental Neuroscience
The intraflagellar transport protein IFT52 associated with short-rib thoracic dysplasia is essential for ciliary function in osteogenic differentiation in vitro and for sensory perception in Drosophila
Vishal Singh Guleria, Rahul Parit, Neha Quadri, Ranajit Das, Priyanka Upadhyai · 2022 · Experimental Cell Research
Photoreceptor actin dysregulation in syndromic and non-syndromic retinitis pigmentosa
Roly D. Megaw, Toby W. Hurd · 2018 · Biochemical Society Transactions
Gpr63 is a modifier of microcephaly in Ttc21b mouse mutants
John Snedeker, William J. Gibbons, David Paulding, Zakia Abdelhamed, Daniel R. Prows, Rolf W. Stottmann · 2019 · PLoS Genetics
A very early diagnosis of Alstrӧm syndrome by next generation sequencing
Leonardo Gatticchi, Ján Miertuš, Paolo Enrico Maltese, Simone Bressan, Luca De Antoni, Ľudmila Podracká, Lucia Piteková, Vanda Rísová, Mari Mällo, Kaie Jaakson et al. · 2020 · BMC Medical Genetics
Centrosome and ciliary abnormalities in fetal akinesia deformation sequence human fibroblasts
Ramona Jühlen, Valérie Martinelli, Chiara Vinci, Jeroen Breckpot, Birthe Fahrenkrog · 2020 · Scientific Reports
Centrosomes: Til O-GlcNAc Do Us Apart
Aiyun Yuan, Xiangyan Tang, Jing Li · 2021 · Frontiers in Endocrinology
Primary Cilia are Required for Cell-Type Determination and Angiogenesis in Pituitary Development
Saishu Yoshida, Yousuke Tsuneoka, Takehiro Tsukada, Takashi Nakakura, Akira Kawamura, Wataru Kai, Kiyotsugu Yoshida · 2024 · Endocrinology
A differential requirement for ciliary transition zone proteins in human and mouse neural progenitor fate specification
Antonia Wiegering, Isabelle Anselme, Ludovica Brunetti, Laura Metayer-Derout, Damelys Calderon, Sophie Thomas, Stéphane Nedelec, Alexis Eschstruth, Valentina Serpieri, Martin Catala et al. · 2025 · Nature Communications
Impact of Common Environmental Exposures on Airway Cilia Biology: Insights into Structure, Function, and Signaling Mechanisms
Zhencheng Feng, Shi-ying Chen, Qian Ye, Shuping Jiang, Zhen‐Feng Chen, Min Zhou, Zhuang‐Gui Chen, Lei Wang, Yang Peng · 2025 · International Archives of Allergy and Immunology
Primary cilia as architects of the neocortex: Roles in brain development, function, and microcephaly
Oskar Kaaber Thomsen, Jindřiška Leischner Fialová, Canan Doğanlı, Cristian Herrera-Cid, Kjeld Møllgård, Alexandre Benmerah, Lars Allan Larsen, Søren Christensen · 2025 · Developmental Cell
Prenatal diagnosis of Bardet Biedl Syndrome: A case report
Ena Arora, Aleksandr M. Fuks, Jessica Meyer, Judith Chervenak · 2022 · Radiology Case Reports
Outcomes of the 2019 hydrocephalus association workshop, "Driving common pathways: extending insights from posthemorrhagic hydrocephalus"
Jason K. Karimy, Jessie Newville, Cameron Sadegh, Jill A. Morris, Edwin S. Monuki, David D. Limbrick, James Pat McAllister, Jenna E. Koschnitzky, Maria K. Lehtinen, Lauren L. Jantzie · 2023 · Fluids and Barriers of the CNS
Spinocerebellar ataxia type 11 (SCA11): TTBK2 variants, functions and associated disease mechanisms
Daniela Felício, Mariana Santos · 2023 · The Cerebellum
Primary cilia control cellular patterning of Meibomian glands during morphogenesis but not lipid composition
Céline Portal, Yvonne G. Lin, Varuni Rastogi, Cornelia Peterson, Samuel C. Yiu, James William Foster, Amber Wilkerson, Igor A. Butovich, Carlo Iomini · 2023 · Communications Biology
Control of centrosome distal appendages assembly and disassembly
Johanna Streubel, Gislene Pereira · 2023 · Cells and Development
Deficiency of Wdr60 and Wdr34 cause distinct neural tube malformation phenotypes in early embryos
Yan Lu, Hailing Yin, Yiwei Mi, Yu Wu, Yufang Zheng · 2023 · Frontiers in Cell and Developmental Biology
The putative protein kinase Stk36 is essential for ciliogenesis and CSF flow by associating with Ulk4
Hongye Zhang, Meimei Yang, J. J. Zhang, Li Li, Tianyuan Guan, Jiaxin Liu, Xuanwei Gong, Fan Yang, Sanbing Shen, Min Liu et al. · 2023 · The FASEB Journal
The relationship between intraflagellar transport and upstream protein trafficking pathways and macrocyclic lactone resistance in Caenorhabditis elegans
Robert A. Brinzer, Alan D. Winter, Antony P. Page · 2024 · G3 Genes Genomes Genetics
Methylation of ciliary dynein motors involves the essential cytosolic assembly factor DNAAF3/PF22
Miho Sakato-Antoku, Ramila Patel, Jeremy Lynn Balsbaugh, Stephen M. King · 2024 · Proceedings of the National Academy of Sciences
Cilia Provide a Platform for the Generation, Regulated Secretion, and Reception of Peptidergic Signals
Raj Luxmi, Stephen M. King · 2024 · Cells
Renal Pathology of Ciliopathies
Thivya Sekar, Neil James Sebire · 2024 · Pediatric and Developmental Pathology
The ARPKD Protein DZIP1L Regulates Ciliary Protein Entry by Modulating the Architecture and Function of Ciliary Transition Fibers
Huicheng Chen, Zhimao Wu, Ziwei Yan, Chuan Chen, Yingying Zhang, Qiaoling Wang, Yuqing Gao, Kun Ling, Jinghua Hu, Qing Wei · 2024 · Advanced Science
Integrative analysis of bulk and single-cell RNA sequencing reveals the gene expression profile and the critical signaling pathways of type II CPAM
Fengxia Li, Zheng Tan, Hongyu Chen, Yue Gao, Jie Lai Xia, Ting Huang, Liang Liang, Jian Zhang, Xianghong Zhang, Xucong Shi et al. · 2024 · Cell & Bioscience
CC2D1A causes ciliopathy, intellectual disability, heterotaxy, renal dysplasia, and abnormal CSF flow
A. Kim, Irmak Sakin, Stephen Viviano, Gülten Tuncel, Stephanie Marie Aguilera, Gizem Goles, Lauren Jeffries, Weizhen Ji, Saquib Ali Lakhani, Canan Ceylan Köse et al. · 2024 · Life Science Alliance
The Nociceptor Primary Cilium Contributes to Mechanical Nociceptive Threshold and Inflammatory and Neuropathic Pain
Lindsey Avery Fitzsimons, Larissa Staurengo‐Ferrari, Eugen V. Khomula, Oliver Bogen, Dionéia Araldi, Ivan José Magayewski Bonet, Paul G. Green, Ethan E Jordan, Finn Sclafani, Connor E Nowak et al. · 2024 · Journal of Neuroscience
Ciliopathy organoid models: a comprehensive review
Matylda Zofia Kuzinska, Sally Yuan-Yin Lin, Verena Klämbt, Philip Bufler, Milad Rezvani · 2024 · American Journal of Physiology-Cell Physiology
Shear stress effects on epididymal epithelial cell via primary cilia mechanosensory signaling
Sepideh Fakhari, Gabriel Henrique Campolina-Silva, Farnaz Asayesh, Laura Girardet, Marie‐Pier Scott‐Boyer, Arnaud Droit, Denis Soulet, Jesse Greener, Clémence Belleannée · 2024 · Journal of Cellular Physiology
Bridging the gap of vision restoration
Maya Carleton, Nicholas W. Oesch · 2024 · Frontiers in Cellular Neuroscience
Regulatory mechanisms governing GLI proteins in hedgehog signaling
Saishu Yoshida, Kiyotsugu Yoshida · 2024 · Anatomical Science International
Ciliopathy-Associated Missense Mutations in IFT140 are Tolerated by the Inherent Resilience of the IFT Machinery
Beyer, Tina, Diwan, Gaurav D., Leonhard, Tobias, Dahlke, Katrin, Klose, Franziska, Stehle, Isabel F., Seda, Marian, Bolz, Sylvia, Woerz, Franziska, Russell, Robert B. et al. · 2025 · Molecular & Cellular Proteomics
TBC1D20 coordinates vesicle transport and actin remodeling to regulate ciliogenesis
Denghui Zhai, Lamei Li, Difei Wang, Weishu Wang, Siyang Zhao, Xue Wang, Cheng Chen, Zixuan Zhu, Weiwen Bu, Mulin Yang et al. · 2025 · The Journal of Cell Biology
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
Phosphorylation-dependent regional motility of the ciliary kinesin OSM-3
Peng Huang, Guanghan Chen, Zhiwen Zhu, Shimin Wang, Zhe Chen, Yongping Chai, Wei Li, Guangshuo Ou · 2025 · The Journal of Cell Biology
Analysis of Kallikrein 6, Acetyl-α-Tubulin, and Aquaporin 1 and 2 Expression Patterns During Normal Human Nephrogenesis and in Congenital Anomalies of the Kidney and Urinary Tract (CAKUT)
Nela Kelam, Marin Ogorevc, Ivona Gotovac, Ivana Kuzmiç Prusac, Katarina Vukojević, Mirna Saraga‐Babić, Snježana Mardešić · 2025 · Genes
Senior–Loken Syndrome: Ocular Perspectives on Genetics, Pathogenesis, and Management
Di Zhou, Yi Zeng, Weihan Luo, Chenyang Leng, Chen Li · 2025 · Biomolecules
TAOK2 drives opposing cilia length deficits in 16p11.2 deletion and duplication carriers
Sujin Byeon, Amy Ferreccio, Moira Cornell, Juan A. Osés-Prieto, Aditi Deshpande, Siri Manvi, Alison Blencowe, Lauren A. Weiss, Alma L. Burlingame, Smita Yadav · 2025 · Stem Cell Reports
Targeted Therapies for Autosomal Dominant Polycystic Kidney Disease
Cherie Stayner, Darby G. Brooke, Michael Bates, Michael Roger Eccles · 2018 · Current Medicinal Chemistry
Unlocking the potential of the UK 100,000 Genomes Project—lessons learned from analysis of the “Congenital Malformations caused by Ciliopathies” cohort
Sunayna K. Best, Chris F. Inglehearn, Christopher Mark Watson, Carmel Toomes, Gabrielle Wheway, Colin A. Johnson · 2022 · American Journal of Medical Genetics Part C Seminars in Medical Genetics
The atypical small GTPase RABL3 interacts with RAB11 to regulate early ciliogenesis in human cells
Tetsuo Kobayashi, Tatsuya Ikeda, Reo Ota, Takafumi Yasukawa, Hiroshi Itoh · 2022 · Journal of Cell Science
Clustering of Genetic Anomalies of Cilia Outer Dynein Arm and Central Apparatus in Patients with Transposition of the Great Arteries
Marlon De Ita, Javier Gaytán-Cervantes, Bulmaro Cisneros, María Antonieta Araujo, Juan Carlos Huicochea‐Montiel, Alan Cárdenas‐Conejo, Charles César Lazo-Cárdenas, César Iván Ramírez-Portillo, Carina Feria-Kaiser, Leoncio Peregrino-Bejarano et al. · 2022 · Genes
LRRK1-mediated NDEL1 phosphorylation promotes cilia disassembly via dynein-2-driven retrograde intraflagellar transport
Hiroshi Hanafusa, Shin Kedashiro, Mako Gotoh, Ko-hei Saitoh, Hironori Inaba, Tomoki Nishioka, Kozo Kaibuchi, Masaki Inagaki, Naoki Hisamoto, Kunihiro Matsumoto · 2022 · Journal of Cell Science
FOXA1 is a transcriptional activator of Odf2/Cenexin and regulates primary ciliation
Christian Carl Czerny, Anett Borschel, Mingfang Cai, Madeline Otto, Sigrid Hoyer‐Fender · 2022 · Scientific Reports
Spheroids, organoids and kidneys-on-chips: how complex human cellular models have assisted in the study of kidney disease and renal ciliopathies
Rebecca Marie Dewhurst, Elisa Molinari, John Andrew Sayer · 2023 · Microfluidics and Nanofluidics
Kidney transcriptome and cystic kidney disease genes in zebrafish
Matthew Koslow, Ping Zhu, Chantal E. McCabe, Xiaolei Xu, Xueying Lin · 2023 · Frontiers in Physiology
Single-cell transcriptomics reveals ependymal subtypes related to cytoskeleton dynamics as the core driver of syringomyelia pathological development
Chunli Lu, Xianming Wu, Xinyu Wang, Zhifeng Xiao, Longbing Ma, Jianwu Dai, Fengzeng Jian · 2023 · iScience
The effectiveness of cerebrolysin, a multi-modal neurotrophic factor, for treatment of post-covid-19 persistent olfactory, gustatory and trigeminal chemosensory dysfunctions: a randomized clinical trial
Sherifa Ahmed Hamed, Mohamed Azzam Abdel-Razek Ahmed · 2023 · Expert Review of Clinical Pharmacology
The role of primary cilia in thyroid diseases
Zijiao Tian, Xinlin Li, Xue Li Yu, Shuxin Yan, Jingwei Sun, Wenxin Ma, Xiaoyun Zhu, Yang Tang · 2024 · Frontiers in Endocrinology
Enhanced and controlled droplet ejection on magnetic responsive polydimethylsiloxane microarrays
Yang Zhang, Chao Wu, Shouzheng Jiao, Haoyu Gu, Yingbin Song, Yuyan Liu, Zhongjun Cheng · 2024 · Journal of Colloid and Interface Science
The CPLANE protein Fuzzy regulates ciliogenesis by suppressing actin polymerization at the base of the primary cilium via p190A RhoGAP
Rhythm Sharma, Rita K. Kalot, Yossef Levin, Sima Babayeva, Nadezda Kachurina, Chen-Feng Chung, Karen J. Liu, Maxime Bouchard, Elena Torban · 2024 · Development
Theoretical insights into rotary mechanism of MotAB in the bacterial flagellar motor
Shintaroh Kubo, Yasushi Okada, Shoji Takada · 2024 · Biophysical Journal
Trainspotting in a cilium
Dhivya Kumar, Stephen M. King · 2017 · eLife
Expression patterns of ciliopathy genes ARL3 and CEP120 reveal roles in multisystem development
Laura Powell, Miguel Barroso‐Gil, Gavin John Clowry, Laura Alice Devlin, Elisa Molinari, Simon A. Ramsbottom, C. G. Miles, John Andrew Sayer · 2020 · BMC Developmental Biology
KLC3 Regulates Ciliary Trafficking and Cyst Progression in CILK1 Deficiency–Related Polycystic Kidney Disease
Gyuyeong Rah, Hwayeon Cha, Joohee Kim, Jieun Song, Hyunho Kim, Yun Kyu Oh, Curie Ahn, Minyong Kang, Jong Min Kim, Kyung Hyun Yoo et al. · 2022 · Journal of the American Society of Nephrology
Tissue-specific requirement of sodium channel and clathrin linker 1 (Sclt1) for ciliogenesis during limb development
Hankyu Lee, Kyeong-Hye Moon, Jieun Song, Suyeon Je, Jinwoong Bok, Hyuk Wan Ko · 2022 · Frontiers in Cell and Developmental Biology
Life-Saver or Undertaker: The Relationship between Primary Cilia and Cell Death in Vertebrate Embryonic Development
Thorsten Pfirrmann, Christoph Gerhardt · 2022 · Journal of Developmental Biology
The ERK activator, BCI, inhibits ciliogenesis and causes defects in motor behavior, ciliary gating, and cytoskeletal rearrangement
Larissa L Dougherty, Soumita Dutta, Prachee Pradeep Avasthi · 2023 · Life Science Alliance
CRB3 navigates Rab11 trafficking vesicles to promote γTuRC assembly during ciliogenesis
Bo Wang, Zheyong Liang, Tan tan, Miao Zhang, Yina Jiang, Yangyang Shang, Xiaoqian Gao, Shaoran Song, Ruiqi Wang, He Chen et al. · 2023 · eLife
Osmotic Stress Blocks Mobility and Dynamic Regulation of Centriolar Satellites
Julie C. Nielsen, Cathrine Nordgaard, Maxim A. X. Tollenaere, Simon Bekker‐Jensen · 2018 · Cells
Nephronophthise und assoziierte Ziliopathien
Andrea Titieni, Jens Christian König · 2018 · Medizinische Genetik
Cilia kinases in skeletal development and homeostasis
Sara P. Abraham, Alexandru Niţă, Pavel Krejčı́, Michaela Kunova Bosakova · 2021 · Developmental Dynamics
Ciliary length regulation by intraflagellar transport in zebrafish
Yi Sun, Zhe Chen, Minjun Jin, Haibo Xie, Chengtian Zhao · 2024 · eLife
Control of ciliary transcriptional programs during spermatogenesis by antagonistic transcription factors
Weihua Wang, Junqiao Xing, Xiqi Zhang, Hongni Liu, Xingyu Liu, Haochen Jiang, Cheng Xu, Xue Zhao, Zhangfeng Hu · 2024 · eLife
Myristoylated Neuronal Calcium Sensor-1 captures the preciliary vesicle at distal appendages
Kanie, Tomoharu, Ng, Roy, Abbott, Keene L, Tanvir, Niaj Mohammad, Lorentzen, Esben, Pongs, Olaf, Jackson, Peter K · 2025 · eLife
A ternary complex of MIPs in the A-tubule of basal bodies and axonemes depends on RIB22 and the EF-hand domain of RIB72A in Tetrahymena cilia
Rachel A. Howard-Till, Sam Li, Usha Pallabi Kar, Christopher N. Fuentes, Amy S. Fabritius, Mark Winey · 2025 · Molecular Biology of the Cell
Advances in Imaging Techniques for Mammalian/Human Ciliated Cell’s Cilia: Insights into Structure, Function, and Dynamics
Jin Li, Shiqin Huang, Hao Chen · 2025 · Biology
KIF13B controls ciliary protein content by promoting endocytic retrieval and suppressing release of large extracellular vesicles from cilia
Csenge K. Rezi, Alina Frei, Fabiola Campestre, Karsten Boldt, Benjamin Mary, Anna Maria Fixdahl, Anna-Louise With Petersen, Aurelien Sicot, Christina Rahlff Berggreen, Julie Laplace et al. · 2025 · Current Biology
The kinesin-4 protein KIF27 forms a cytoskeletal scaffold at the transition zone to promote motile cilia structural integrity
Hyunji Park, Myeong-Jun Choi, Yu Zhang, Helen Oi-Lam Cheung, Shigeru Makino, Yoshiaki Yoshikawa, Haoran Qi, Zheng Liu, Guocheng Lan, Guoling Fu et al. · 2025 · Proceedings of the National Academy of Sciences
Orchestrating Microtubules: A Review of Kinase–Dependent Regulatory Mechanisms
Yaqian Zhang, Shasha Hua, Kai Jiang · 2026 · Cell Biology International
Novel Protein–Protein Interactions Highlighting the Crosstalk between Hypoplastic Left Heart Syndrome, Ciliopathies and Neurodevelopmental Delays
Kalyani Bindu Karunakaran, George C. Gabriel, N. Balakrishnan, Cecilia W. Y. Lo, Madhavi K. Ganapathiraju · 2022 · Genes
Vestibular Hair Cells Require CAMSAP3, a Microtubule Minus-End Regulator, for Formation of Normal Kinocilia
Josephine O’Donnell, Jing Zheng · 2022 · Frontiers in Cellular Neuroscience
Cilia regeneration requires an RNA splicing factor from the ciliary base
Kaiming Xu, Guangshuo Ou · 2022 · Cell Regeneration
A Role for Genetic Modifiers in Tubulointerstitial Kidney Diseases
Gary Leggatt, Eleanor G. Seaby, Kristin V. Veighey, Christine Gast, Rodney D. Gilbert, Sarah Ennis · 2023 · Genes
The G protein alpha chaperone and guanine-nucleotide exchange factor RIC-8 regulates cilia morphogenesis in Caenorhabditis elegans sensory neurons
Christina M. Campagna, Hayley E. McMahon, Inna V. Nechipurenko · 2023 · PLoS Genetics
Nephronophthisis 13 caused by WDR19 variants with pancytopenia: case report
Yu Tanaka, Tomoko Horinouchi, Yuta Inoki, Yuta Ichikawa, Chika Ueda, Hideaki Kitakado, Atsushi Kondo, Nana Sakakibara, China Nagano, Yoshihiko Yano et al. · 2024 · CEN Case Reports
Ectopic MYBL2-Mediated Regulation of Androglobin Gene Expression
Antonia Herwig, Carina Osterhof, Anna Keppner, Darko Maric, Teng Wei Koay, Ambre Mbemba-Nsungi, David Hoogewijs · 2024 · Cells
Ccdc13 is essential for the assembly of ciliary central microtubules
Zhimao Wu, Yingying Zhang, Juyuan Liu, Hao Liu, Jin Niu, Yan Li, Shanshan Xie, Xiumin Yan, Xueliang Zhu, Qing Wei · 2025 · National Science Review
Ophthalmologic Manifestations in Bardet–Biedl Syndrome: Emerging Therapeutic Approaches
Amaris Rosado, Ediel Rodriguez, Natalio Izquierdo · 2025 · Medicina
Aberrant activation of IL-6/JAK/STAT3/FOSL1 signaling induces renal abnormalities in a Xenopus model of Joubert syndrome-related disorders
Udval Uuganbayar, Hiromasa Ninomiya, Issei S. Shimada, Chisato Yamada, Mayu Kanie, Shinji Kawai, Takahiro Asai, Toru Akiyama-Miyoshi, Masayuki Itoh, Yutaka Hashimoto et al. · 2025 · Journal of Biological Chemistry