Results 51 to 60 of about 2,827 (178)

Structural insights into the small G-protein Arl13B and implications for Joubert syndrome [PDF]

Biochemical Journal, 2013
Ciliopathies are human diseases arising from defects in primary or motile cilia. The small G-protein Arl13B (ADP-ribosylation factor-like 13B) localizes to microtubule doublets of the ciliary axoneme and is mutated in Joubert syndrome. Its GDP/GTP mechanistic cycle and the effect of its mutations in patients with Joubert syndrome remain elusive. In the
Miertzschke, M., Koerner, C., Spoerner, M., Wittinghofer, A.   +3 more
openaire   +4 more sources

Rab8, Rab11, and Rab35 coordinate lumen and cilia formation during zebrafish left-right organizer development.

PLoS Genetics, 2023
An essential process during Danio rerio's left-right organizer (Kupffer's Vesicle, KV) formation is the formation of a motile cilium by developing KV cells which extends into the KV lumen. Beating of motile cilia within the KV lumen directs fluid flow to
Abrar A Aljiboury, Eric Ingram, Nikhila Krishnan, Favour Ononiwu, Debadrita Pal, Julie Manikas, Christopher Taveras, Nicole A Hall, Jonah Da Silva, Judy Freshour, Heidi Hehnly   +10 more
doaj   +1 more source

Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome [PDF]

The American Journal of Human Genetics, 2008
Joubert syndrome (JS) and related disorders are a group of autosomal-recessive conditions sharing the "molar tooth sign" on axial brain MRI, together with cerebellar vermis hypoplasia, ataxia, and psychomotor delay. JS is suggested to be a disorder of cilia function and is part of a spectrum of disorders involving retinal, renal, digital, oral, hepatic,
Cantagrel V, Silhavy JL, Bielas S, Swistun D, Marsh SE, Bertrand J, Audollent S, Attié Bitach T, Holden KR, Dobyns WB, Traver D, Al Gazali L, Ali BR, Lindner TH, Caspary T, Otto EA, Hildebrandt F, Glass IA, Logan CV, Johnson CA, Bennett C, Brancati F, Grattan Smith P, Leventer J, Van Coster R, Dias K, Moco C, Moreira, Ae Kim C, AKiss A, Maegawa G, Abdel Salam GMH, Abdel Aleem A, Zaki MS, Marti I, Quijano Roy S, de Lonlay P, A. Verloes A, Touraine R, Koenig M, Lagier Tourenne C, Messer J, Philippi H, Tzeli SK, Halldorsson S, Johannsdottir J, Ludvigsson P, Magee A, Stuart B, Lev D, Michelson M, Ben Zeev B, Fischetto R, Gentile M, Battaglia, Giordano L, Boccone L, Ruggieri M, Bigoni S, Ferlini A, Donati MA, Procopio E, Lapi E, Genuardi M, Caridi G, Faravelli F, Ghiggeri G, BRIUGLIA, Silvana, TORTORELLA, Gaetano, RIGOLI, Luciana Concetta, SALPIETRO DAMIANO, Carmelo, D’Arrigo S, Pantaleoni C, Riva D, Uziel G, Laverda AM, Permunian A, Bova S, Fazz Ei, Sabrina S, Battini R, Bertini E, Dallapiccola B, Cilio MR, Di Sabato M, Emma F, Leuzzi V, Parisi P, Simonati A, Al Tawari AA, Bastaki L, Ahmad Aqueel A, Jong MM, Koul R, Rajab A, Sztriha L, Azam M, Barbot C, Rodriguez B, Pascual Castroviejo I, Eugen Boltshauser E, Hulya H, Comu S, Akcakus M, Sahin Y, Phadke SR, Melick N, Mikati M, Nicholl D, Hurst J, Hennekam RCM, Bernes S, Sanchez H, Clark AE, Wynshaw Boris A, Donahue C, Sherr EH, Barkovich AJ, Hahn D., Sanger TD, Gallager TE, Daugherty C, Krishnamoorthy KS, Sarco D, Walsh CA, Soul, JMcKanna T, Joanne Milisa J, Chung WK, De Vivo DC, Raynes H, Schubert R, Seward A, Brooks DG, Amy Goldstein A, Caldwell J, Finsecke E, Maria BL, Cruse RP, LotzeTE, Swoboda KJ, Viskochil DH, Valente EM, Woods CG, Gleeson JG   +143 more
openaire   +8 more sources

Preliminary results on a proposed histopathological assessment of predictive factors for basal cell carcinoma recurrence after primary free margin excision

Skin Health and Disease, 2022
Background Basal cell carcinoma (BCC) incidence is steadily increasing but therapeutic solutions remain limited and present a public health challenge.
A. Jacquet, V. Dormoy, M. Lorenzato, A. Durlach   +3 more
doaj   +1 more source

Brain microvascular endothelial cells possess a second cilium that arises from the daughter centriole

Frontiers in Molecular Biosciences, 2023
Primary cilia from the brain microvascular endothelial cells (ECs) are specialized cell-surface organelles involved in mediating sensory perception, cell signaling, and vascular stability.
Karthikeyan Thirugnanam, Ankan Gupta, Francisco Nunez, Shubhangi Prabhudesai, Amy Y. Pan, Surya M. Nauli, Ramani Ramchandran   +6 more
doaj   +1 more source

A Human Neural Tube Model Using 4D Self‐Folding Smart Scaffolds

Advanced Healthcare Materials, EarlyView.
Induced pluripotent stem cells (iPSCs) exhibit features comparable to the inner cell mass of the human embryo. iPSCs are applied to a novel self‐folding 4D‐Neural Tube (4D‐NT) structure that mimics the neurulation process. This 4D‐NT model recapitulates early events of human neural development and represents a platform to explore neurodevelopmental ...
Claudia Dell'Amico, Irene Chiesa, Angela Toffano, Alessio Esposito, Piera Mancini, Chiara Magliaro, Angeliki Louvi, Carmelo De Maria, Marco Onorati   +8 more
wiley   +1 more source

Arl13b regulates Shh signaling from both inside and outside the cilium

Molecular Biology of the Cell, 2016
The regulatory GTPase Arl13b localizes to primary cilia, where it regulates Sonic hedgehog (Shh) signaling. Missense mutations in ARL13B can cause the ciliopathy Joubert syndrome (JS), and the mouse null allele is embryonic lethal. We used mouse embryonic fibroblasts as a system to determine the effects of Arl13b mutations on Shh signaling.
Mariani, Laura E., Bijlsma, Maarten F., Ivanova, Anna I., Suciu, Sarah K., Kahn, Richard A., Caspary, Tamara   +5 more
openaire   +3 more sources

Development of a Synthetic 3D Platform for Compartmentalized Kidney In Vitro Disease Modeling

Advanced Healthcare Materials, EarlyView.
A fully synthetic, compartmentalized 3D kidney disease model is introduced. The kidney model combines a PEG‐based hydrogel matrix with anisotropic, enzymatically degradable rod‐shaped microgels to spatially arrange a triple co‐culture of key renal epithelial, endothelial, and fibroblast cells.
Ninon Möhl, Daphne Bouwens, Johanna Abele, Aline Hans, Tanja Topic, Daniel Günther, Jitske Jansen, Rafael Kramann, Laura De Laporte   +8 more
wiley   +1 more source

Loss of Twist1 leads to disruption of ciliary length, endocytic vesicle dynamics, and cell–cell junctions during neural tube formation

Developmental Dynamics, EarlyView.
Abstract Background Endocytosis constitutes a fundamental cellular process governing development through coordinated regulation of plasma membrane remodeling and ciliogenesis, processes essential for cell shape changes and tissue development. Although Twist1 null embryos display complete cranial neural tube (NT) closure defects and conditional knockout
Derrick Thomas, Brittany M. Hufft‐Martinez, Zarna Lalwani, Vi Pham, Mary Elmeniawi, An J. Tran, Jianming Xu, Irfan Saadi, Walid D. Fakhouri   +8 more
wiley   +1 more source

Ciliary genes arl13b, ahi1 and cc2d2a differentially modify expression of visual acuity phenotypes but do not enhance retinal degeneration due to mutation of cep290 in zebrafish.

PLoS ONE, 2019
Mutations in the gene Centrosomal Protein 290 kDa (CEP290) result in multiple ciliopathies ranging from the neonatal lethal disorder Meckel-Gruber Syndrome to multi-systemic disorders such as Joubert Syndrome and Bardet-Biedl Syndrome to nonsyndromic ...
Emma M Lessieur, Ping Song, Gabrielle C Nivar, Ellen M Piccillo, Joseph Fogerty, Richard Rozic, Brian D Perkins   +6 more
doaj   +1 more source