Results 131 to 140 of about 5,920 (201)

Elucidating the Role of SET as a Key Contributor to Neurodevelopmental Disability Within the 9q34.11 Deletion Syndrome Interval

Clinical Genetics, Volume 110, Issue 4, Page 438-448, October 2026.
This study reports a female proband with a de novo 9q34.11 deletion affecting SET, who underwent a 28‐year diagnostic odyssey after an atypical Rett syndrome clinical diagnosis. Genomic and proteomics analyses confirmed SET haploinsufficiency, refining the critical 9q34.11 region, and supporting speech therapy benefits in improving meaningful ...
Angelo Condell, Elaine Zhang, Tim Sikora, Sean Massey, Nicole J. Van Bergen, Min Wang, Cas Simons, Katrina M. Bell, Daniella H. Hock, David A. Stroud, David Francis, Wendy A. Gold, Martin B. Delatycki, John Christodoulou, Simranpreet Kaur   +14 more
wiley   +1 more source

Synaptic Proteostasis in Health and Disease

Journal of Neurochemistry, Volume 170, Issue 10, October 2026.
The localised creation and degradation of proteins at the pre and postsynaptic terminal are processes that are crucial for neuronal homeostasis. Synaptic proteostasis pathways are frequently reported as dysregulated in neurodevelopmental and neurodegenerative disorders.
Paul G. Donlin‐Asp, Emma L. Clayton
wiley   +1 more source

Reconstruction of native cellular microanatomy in a novel bioengineered full thickness human nasal mucosal construct

Journal of Anatomy, Volume 249, Issue 4, Page 950-969, October 2026.
Bioengineered tissue constructs are vital technologies employed in in vitro testing of both fundamental biological principles and industrial screening practices. Current approaches to modelling the nasal mucosa in vitro are not representative and are associated with limitations that impact their reliability and predictive value.
Steven Bradbury, Bethany Dickson, Nicola Curtis, David Bunton, Kirsty Goncalves, Stefan Przyborski   +5 more
wiley   +1 more source

Organization of Dyneins in the Axoneme

, 2011
Takashi Ishikawa, Ishikawa, Takashi (author)   +1 more
core   +1 more source

tArp Is an Actin-Related Protein Required for Ciliary Function That Is Conserved in Ciliates and Related Eukaryotic Groups. [PDF]

J Eukaryot Microbiol
Kagawa M, Hagita M, Nakayama T, Shiba K, Kato-Minoura T, Matsuda S, Inaba K, Inagaki Y, Nakano K.   +8 more
europepmc   +1 more source

Publisher Correction: Adaptor-mediated recruitment of three dyneins to dynactin enhances force generation. [PDF]

Nat Cell Biol
Rao L, Liu X, Arnold M, Okada K, McKenney RJ, Stengel K, Sidoli S, Berger F, Gennerich A.   +8 more
europepmc   +1 more source

Culture method for promoting efficient ciliary growth in the <i>Chlamydomonas</i> <i>pf23</i> mutant defective in dynein preassembly. [PDF]

MicroPubl Biol
Yamamoto R, Kon T.
europepmc   +1 more source

Heme-binding protein CYB5D1 couples intraflagellar redox to calcium signaling for coordinated flagellar beating. [PDF]

Proc Natl Acad Sci U S A
Lin Y, Zhao L, Liu G, Deng X, King SM, Huang K.   +5 more
europepmc   +1 more source

Many dynein teams collectively generate high forces during the transport of large organelles. [PDF]

Biophys J
Wieland S, Steininger C, Gitschier DE, Kaiser MM, Gross W, Chaudhary AR, Ritschar J, Laforsch C, Hendricks AG, Kress H.   +9 more
europepmc   +1 more source

DynAPs and cytoplasmic assembly of axonemal dyneins. [PDF]

J Cell Sci
Wallingford JB, Wallingford JB, Brody SL, Horani A, Lee C.   +4 more
europepmc   +1 more source