Results 141 to 150 of about 21,394 (289)

Counterregulation of cAMP-directed kinase activities controls ciliogenesis [PDF]

, 2018
The primary cilium emanates from the cell surface of growth-arrested cells and plays a central role in vertebrate development and tissue homeostasis. The mechanisms that control ciliogenesis have been extensively explored.
Bachmann VA, Conte I, CONTE, IVAN, Delle Donne R, Feliciello A., Garbi C, Insabato L, Intartaglia D, Lindner HH, Porpora M, Rinaldi L, Santoriello M, SAUCHELLA, SIMONA, Sepe M, Stefan E, Synofzik M, Torres-Quesada O   +16 more
core   +1 more source

Assembly and mother centriole recruitment of IFT-B subcomplexes to form IFT-B holocomplex

Cell Structure and Function
For the biogenesis and maintenance of cilia, bidirectional protein trafficking within cilia is crucial, and is conducted by intraflagellar transport (IFT) trains containing the IFT-A and IFT-B complexes that are powered by dynein-2 and kinesin-II motors.
Koshi Tasaki, Yohei Katoh, Hye-Won Shin, Kazuhisa Nakayama   +3 more
doaj   +1 more source

Lack of a Retinal Phenotype in a Syne-2/Nesprin-2 Knockout Mouse Model

Cells, 2019
Syne-2 (also known as Nesprin-2) is a member of a family of proteins that are found primarily in the outer nuclear membrane, as well as other subcellular compartments.
Nathalie Falk, Anneka Joachimsthaler, Kristin Kessler, Uwe Thorsten Lux, Angelika Anna Noegel, Jan Kremers, Johann Helmut Brandstätter, Andreas Gießl   +7 more
doaj   +1 more source

PIEZO1‐Primary Cilia Axis Mediates Compressive Stress‐Induced Growth Plate Degeneration and Ossification in Adolescent Idiopathic Scoliosis

JOR SPINE, Volume 8, Issue 4, December 2025.
This study investigates Adolescent Idiopathic Scoliosis (AIS), uncovering the core mechanism of mechanical stress‐induced growth plate degeneration and ossification: the mechanosensitive ion channel PIEZO1 colocalizes with primary cilia in chondrocytes, forming a signaling axis.
Fei Chen, Shuqing Chen, Fushuai Peng, Yukun Du, Jianyi Li, Yuanyuan Fan, Zichen Cui, Guanghui Gu, Han Zhang, Xingzhi Jing, Jun Dong, Tao Li, Yongming Xi   +12 more
wiley   +1 more source

Insights into centriole geometry revealed by cryotomography of doublet and triplet centrioles. [PDF]

, 2018
Centrioles are cylindrical assemblies comprised of 9 singlet, doublet, or triplet microtubules, essential for the formation of motile and sensory cilia.
Agard, David A, Greenan, Garrett A, Keszthelyi, Bettina, Vale, Ronald D   +3 more
core   +1 more source

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome [PDF]

, 2015
Defective primary ciliogenesis or cilium stability forms the basis of human ciliopathies, including Joubert syndrome (JS), with defective cerebellar vermis development.
Aza-Blac, P, Azam, M, Bertini, E, Boltshauser, E, Borgatti, R, Boustany, RM, Clericuzio, CL, Copeland, B, D Arrigo, S, Dobyns, WB, Dynlacht, BD, Emma, F, Freilinger, M, Gabriel, SB, Gleeson, JG, Heynen, SG, Hildebrandt, F, Hofree, M, Ideker, T, İncecik, F, Johnson, CA, Kim, J, Kim, S, Lee, JE, Mazza, T, Miccinilli, E, Mikati, M, Milisa-Drautz, J, Mirabelli-Badenier, M, Moroni, I, Romani, M, Romaniello, R, Roosing, S, Rosti, RO, Schroth, J, Scott, E, Silhavy, JL, Stanzial, F, Steinlin, M, Strømme, P, Swoboda, KJ, Valente, EM, Valente, EM, Vaux, KK, Zaki, MS   +44 more
core   +7 more sources

Novel Compound Heterozygous Variants in the TCTN2 Gene Causing Meckel–Gruber Syndrome 8 in a Non‐Consanguineous Chinese Family

Molecular Genetics &Genomic Medicine, Volume 13, Issue 12, December 2025.
Genetic analysis of the fetus with Meckel–Gruber syndrome 8 and the spectrum of TCTN2 variants. ABSTRACT Introduction Meckel‐Gruber syndrome (MKS, OMIM 24,900), also known as Meckel syndrome, is a rare and severe autosomal recessive disorder. The syndrome is typically characterized by a triad of occipital encephalocele, bilateral renal cystic dysplasia,
Qi Yang, Wei He, Qiang Zhang, Sheng Yi, Xunzhao Zhou, Shujie Zhang, Shang Yi, Qinle Zhang, Jingsi Luo   +8 more
wiley   +1 more source

VAMP7 modulates ciliary biogenesis in kidney cells [PDF]

, 2014
Epithelial cells elaborate specialized domains that have distinct protein and lipid compositions, including the apical and basolateral surfaces and primary cilia.
A Doyotte, A Le Bivic, Anatália Labilloy, B Chih, B Mandon, BA Potter, BA Rous, Catherine L. Jackson, Christina M. Szalinski, CM Szalinski, DC Ko, DE Gordon, DP Germain, E Boucrot, F Kotsis, F Lafont, G Ihrke, G Kreitzer, H Ishikawa, HA Hager, HM Kent, HT McMahon, IC Fields, J Kim, J Mazelova, Jennifer R. Bruns, JM Torkko, JR Henkel, JR Henkel, K Matter, KO Cresawn, L Breuza, L Danglot, L Milenkovic, LA Greene, LC Jones, M Chaineau, M Galvez-Santisteban, M Holt, M Steegmaier, MS Pols, MV Nachury, N Nishimura, N Sharma, OA Weisz, Ora A. Weisz, OV Vieira, PA Ortiz, PE Mattila, PR Pryor, PR Pryor, Q Hu, Q Zeng, R Jahn, R Le Borgne, RJ Advani, RJ Advani, RM Arantes, RW Tucker, S Breton, S Coco, S Hardy, S Martinez-Arca, SH Low, SK Rao, SM Leung, SV Costes, T Baust, T Galli, T Pocard, T Saito, T Takeda, V Proux-Gillardeaux, V Rossi, V Singla, X Li, X Zuo, Y Rbaibi, YC Hsiao   +78 more
core   +3 more sources

TTC30A and TTC30B Redundancy Protects IFT Complex B Integrity and Its Pivotal Role in Ciliogenesis [PDF]

, 2022
F. Hoffmann, Sylvia Bolz, Katrin Junger, Franziska Klose, Timm Schubert, Franziska Woerz, Karsten Boldt, Marius Ueffing, Tina Beyer   +8 more
openalex   +1 more source

PIK3C2A‐Related Clinical Phenotype and Cellular Charaterization Linked to Functional SHH Primary Cilia Defect

Clinical Genetics, Volume 108, Issue 6, Page 696-707, December 2025.
Trio exome sequencing allowed the identification of two novel compound heterozygous variants in PIK3C2A, defining the fifth family presenting a PIK3C2A‐related syndrome characterized by pulverulent cataracts and deafness. Functional testing revealed impaired PI metabolism and primary dysfunction phenotype.
Adella Karam, Clarisse Delvallée, Bénédicte Gérard, Elodie Javey, Pascal Kessler, Valérie Pelletier, Jean‐Baptiste Lamouche, Nicolas Le May, Jean Muller, Hélène Dollfus   +9 more
wiley   +1 more source