[HTML][HTML] The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision

PW Chrystal, NJ Lambacher, LP Doucette… - Nature …, 2022 - nature.com
Motile and non-motile cilia are associated with mutually-exclusive genetic disorders. Motile
cilia propel sperm or extracellular fluids, and their dysfunction causes primary ciliary …

The inner junction complex of the cilia is an interaction hub that involves tubulin post-translational modifications

A Khalifa, M Ichikawa, D Dai, C Black, K Peri… - Biophysical …, 2020 - cell.com
Microtubules are hollow structures formed by the lateral association of protofilaments of α-
and β-tubulin dimers. In the cytoplasm, microtubules commonly exist in the 13-protofilament …

[HTML][HTML] Rare copy number variants analysis identifies novel candidate genes in heterotaxy syndrome patients with congenital heart defects

C Liu, R Cao, Y Xu, T Li, F Li, S Chen, R Xu, K Sun - Genome Medicine, 2018 - Springer
Abstract Background Heterotaxy (Htx) syndrome comprises a class of congenital disorders
resulting from malformations in left-right body patterning. Approximately 90% of patients with …

PACRG and FAP20 form the inner junction of axonemal doublet microtubules and regulate ciliary motility

EE Dymek, J Lin, G Fu, ME Porter… - Molecular biology of …, 2019 - Am Soc Cell Biol
We previously demonstrated that PACRG plays a role in regulating dynein-driven
microtubule sliding in motile cilia. To expand our understanding of the role of PACRG in …

PACRG, a protein linked to ciliary motility, mediates cellular signaling

CM Loucks, NJ Bialas, MPJ Dekkers… - Molecular biology of …, 2016 - Am Soc Cell Biol
Cilia are microtubule-based organelles that project from nearly all mammalian cell types.
Motile cilia generate fluid flow, whereas nonmotile (primary) cilia are required for sensory …

Whole exome sequencing, a hypothesis-free approach to investigate recurrent early miscarriage

L Gourhant, O Bocher, L De Saint Martin… - Reproductive …, 2021 - Elsevier
Research question Are there genetic determinants shared by unrelated women with
unexplained recurrent early miscarriage (REM)? Design Thirty REM cases and 30 controls …

[HTML][HTML] Sequence variant analysis of RNA sequences in severe equine asthma

L Tessier, O Côté, D Bienzle - PeerJ, 2018 - peerj.com
Background Severe equine asthma is a chronic inflammatory disease of the lung in horses
similar to low-Th2 late-onset asthma in humans. This study aimed to determine the utility of …

Microtubule binding protein PACRG plays a role in regulating specific ciliary dyneins during microtubule sliding

K Mizuno, EE Dymek, EF Smith - Cytoskeleton, 2016 - Wiley Online Library
The complex waveforms characteristic of motile eukaryotic cilia and flagella are produced by
the temporally and spatially regulated action of multiple dynein subforms generating sliding …

[HTML][HTML] Parkin 共调基因调控功能与疾病研究进展

赵海洲, 李军, 马延红, 刘文华 - 2018 - html.rhhz.net
Parkin 共调基因(PACRG) 与帕金森病相关基因Parkin 共表达, 共用一个双向启动子.
它与微管蛋白的功能关系密切, 通过微管蛋白调节鞭毛, 纤毛的运动, 参与精子发育 …

Whole mount in situ hybridization and morphometric analysis in rabbit embryos

Y Kawamura, K Matsumoto - Teratogenicity testing: Methods and …, 2018 - Springer
Rabbits are valuable experimental animals used to evaluate the teratogenicity of chemical
entities. If teratogenicity is recognized, it is very important to investigate the pathogenesis to …