Results 81 to 90 of about 17,107 (226)

The MAL protein is crucial for proper membrane condensation at the ciliary base, which is required for primary cilium elongation [PDF]

, 2015
The base of the primary cilium contains a zone of condensed membranes whose importance is not known. Here, we have studied the involvement of MAL, a tetraspanning protein that exclusively partitions into condensed membrane fractions, in the condensation ...
Alonso, M.A., Andrés, G., Bernabé-Rubio, M., Casares-Arias, J., Correas, Isabel, Enrich, C., Fernández-Barrera, J., Rangel Sánchez, Laura, Reales, E., Rentero, C.   +9 more
core   +2 more sources

Microtubule Inner Protein CFAP77 Contributes to Sperm Motility and Male Fertility in Mice

Andrology, EarlyView.
ABSTRACT Background Sperm motility is essential for male fertility, and its regulation is dependent on the structural integrity of the axoneme. The axoneme consists of a conserved “9+2” microtubule arrangement and is supported by microtubule inner proteins. However, the functional significance of many microtubule inner proteins remains unclear.
Haoting Wang, Anh Hoang Pham, Mengjiao Luo, Masahito Ikawa, Haruhiko Miyata   +4 more
wiley   +1 more source

GJA1 depletion causes ciliary defects by affecting Rab11 trafficking to the ciliary base

eLife, 2022
The gap junction complex functions as a transport channel across the membrane. Among gap junction subunits, gap junction protein α1 (GJA1) is the most commonly expressed subunit.
Dong Gil Jang, Keun Yeong Kwon, Yeong Cheon Kweon, Byung-gyu Kim, Kyungjae Myung, Hyun-Shik Lee, Chan Young Park, Taejoon Kwon, Tae Joo Park   +8 more
doaj   +1 more source

The serologically defined colon cancer antigen-3 (SDCCAG3) is involved in the regulation of ciliogenesis [PDF]

, 2016
A primary cilium is present on most eukaryotic cells and represents a specialized organelle dedicated to signal transduction and mechanosensing. Defects in cilia function are the cause for several human diseases called ciliopathies.
A Doyotte, A Jurczyk, A Knodler, A Robert, AM Waters, B Chih, B Fogelgren, BG Coon, BK Yoder, C Fisch, CE Larkins, CJ Westlake, CL Williams, D Huangfu, DC Barral, DN Wheatley, F Finetti, F Finetti, F Hildebrandt, FR Garcia-Gonzalo, FR Garcia-Gonzalo, GD Gupta, GJ Pazour, GJ Pazour, H Hoffmeister, H Ishikawa, H Qin, I Franco, IJ McGough, J Kim, JA Deane, JF Dishinger, JF Reiter, K Madhivanan, K Madhivanan, KF Lechtreck, KG Kozminski, KG Kozminski, M Tsujikawa, MA Andrade, MV Nachury, N Hagemann, N Neznanov, NV Bukoreshtliev, RG Anderson, S Fan, T Caspary, T Mochizuki, TT Yang, X Ye, Y Cai   +50 more
core   +1 more source

A highly abundant circular RNA from the RMST locus plays a role in posterior fossa ependymoma pathogenesis

Brain Pathology, EarlyView.
circRMST (hsa_circ_0099634) is by far the most abundant isoform from the RMST locus. It is highly expressed in cancer cells throughout ependymoma patient samples and is located in the cytoplasm. circRMST knockdown causes cell cycle arrest and induces differentiation, and it is a marker for poor prognosis. The figure is made using BioRender.
Ulvi Ahmadov, Charlotte W. Udengaard, Stine M. Vissing, Silke D. Nielsen, Kim‐Gwendolyn Dietrich, Benedicte Parm Ulhøi, Lasse S. Kristensen   +6 more
wiley   +1 more source

Primary cilia elongation in response to interleukin-1 mediates the inflammatory response [PDF]

, 2012
Primary cilia are singular, cytoskeletal organelles present in the majority of mammalian cell types where they function as coordinating centres for mechanotransduction, Wnt and hedgehog signalling. The length of the primary cilium is proposed to modulate
A. K. T. Wann, AC Lin, AJ Espanol, AM Malone, BD Engel, BK Yoder, CA Dinarello, CG Jensen, CM Asleson, D Qian, DA Lee, E Verghese, E Verghese, EJ Michaud, EM Mokrzan, GJ Pazour, H Tukachinsky, I Memon, J Kim, JA Deane, JL Rosenbaum, JM Neugebauer, K Gardner, KJ Palmer, L Schneider, M Barzi, M Cao, M. M. Knight, MA Lancaster, MB Hovater, N Sharma, P Tummala, PA Lefebvre, PV Tran, RY Kwon, S Abdul-Majeed, S Agarwal, S Kim, S Massinen, S Mukhopadhyay, S Pritchard, S Toffoli, SC Goetz, SM Nauli, SR McGlashan, SR McGlashan, SR McGlashan, TT Chowdhury, TY Besschetnova, Y Chen, Y Ou, YH Choi   +51 more
core   +2 more sources

Homozygous Loss‐of‐Function Variant in SLC20A1 Coding for Ubiquitous Phosphate Transporter PiT1 Is Associated With Multiple Developmental Abnormalities

Clinical Genetics, EarlyView.
Biallelic SLC20A1 loss‐of‐function variant causes a previously unrecognized multisystem developmental disorder. We report the first homozygous case presenting with tetralogy of Fallot, renal agenesis, polydactyly, and growth impairment. Transcriptome analysis of patient‐derived fibroblasts suggests significant dysregulation of pathways critical for ...
Eugénie Koumakis, Céline Huber, Wendy Chung, Christine Leroy, Pauline Parisot, Regis Gaudin, Mohamad Zaidan, Valérie Cormier‐Daire, Gérard Friedlander, Yoel Hirsch   +9 more
wiley   +1 more source

Calibrated mitotic oscillator drives motile ciliogenesis

Science, 2017
Taming mitosis for differentiation The mitotic oscillator consists of molecular switches known to drive cell division forward. This conserved clocklike regulatory circuit has not previously been implicated in cellular processes other than division.
Al Jord, Adel, Shihavuddin, Asm, Servignat d’Aout, Raphaël, Faucourt, Marion, Genovesio, Auguste, Karaiskou, Anthi, Sobczak-Thépot, Joëlle, Spassky, Nathalie, Meunier, Alice   +8 more
openaire   +3 more sources

Functional Alterations in Ciliogenesis-Associated Kinase 1 (CILK1) that Result from Mutations Linked to Juvenile Myoclonic Epilepsy

Cells, 2020
Ciliopathies are a group of human genetic disorders associated with mutations that give rise to the dysfunction of primary cilia. Ciliogenesis-associated kinase 1 (CILK1), formerly known as intestinal cell kinase (ICK), is a conserved serine and ...
Eric J. Wang, Casey D. Gailey, David L. Brautigan, Zheng Fu   +3 more
doaj   +1 more source

Phenotypic Expansion and Molecular Implications in Recessive FUZ‐Related Ciliopathy

Clinical Genetics, EarlyView.
Our patient with homozygous FUZ p.Arg234Trp, potentially altering FUZ‐CPLANE2 interactions, presented with aorto‐pulmonary window, Hirschsprung disease, and shared phenotypes with previously reported ciliopathy patients. This report provides additional evidence for FUZ as a causative gene for ciliopathy, offering novel insights into the phenotype ...
Yosuke Ogawa, Shota Kato, Kazuhiro Shiraga, Motohiro Kato, Ryo Inuzuka   +4 more
wiley   +1 more source