DYX1C1 is required for axonemal dynein assembly and ciliary motility
DYX1C1 has been associated with dyslexia and neuronal migration in the developing
neocortex. Unexpectedly, we found that deleting exons 2–4 of Dyx1c1 in mice caused a …
neocortex. Unexpectedly, we found that deleting exons 2–4 of Dyx1c1 in mice caused a …
Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia
HM Mitchison, M Schmidts, NT Loges, J Freshour… - Nature …, 2012 - nature.com
Primary ciliary dyskinesia most often arises from loss of the dynein motors that power ciliary
beating. Here we show that DNAAF3 (also known as PF22), a previously uncharacterized …
beating. Here we show that DNAAF3 (also known as PF22), a previously uncharacterized …
The Zebrafish Orthologue of the Dyslexia Candidate Gene DYX1C1 Is Essential for Cilia Growth and Function
G Chandrasekar, L Vesterlund, K Hultenby… - PloS one, 2013 - journals.plos.org
DYX1C1, a susceptibility gene for dyslexia, encodes a tetratricopeptide repeat domain
containing protein that has been implicated in neuronal migration in rodent models. The …
containing protein that has been implicated in neuronal migration in rodent models. The …
DNAH11 localization in the proximal region of respiratory cilia defines distinct outer dynein arm complexes
GW Dougherty, NT Loges, JA Klinkenbusch… - American journal of …, 2016 - atsjournals.org
Primary ciliary dyskinesia (PCD) is a recessively inherited disease that leads to chronic
respiratory disorders owing to impaired mucociliary clearance. Conventional transmission …
respiratory disorders owing to impaired mucociliary clearance. Conventional transmission …
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3
C Olcese, MP Patel, A Shoemark, S Kiviluoto… - Nature …, 2017 - nature.com
By moving essential body fluids and molecules, motile cilia and flagella govern respiratory
mucociliary clearance, laterality determination and the transport of gametes and …
mucociliary clearance, laterality determination and the transport of gametes and …
Mutations in outer dynein arm heavy chain DNAH9 cause motile cilia defects and situs inversus
Motile cilia move body fluids and gametes and the beating of cilia lining the airway epithelial
surfaces ensures that they are kept clear and protected from inhaled pathogens and …
surfaces ensures that they are kept clear and protected from inhaled pathogens and …
A liquid-like organelle at the root of motile ciliopathy
Motile ciliopathies are characterized by specific defects in cilia beating that result in chronic
airway disease, subfertility, ectopic pregnancy, and hydrocephalus. While many patients …
airway disease, subfertility, ectopic pregnancy, and hydrocephalus. While many patients …
Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia
Primary ciliary dyskinesia (PCD) is a ciliopathy characterized by airway disease, infertility,
and laterality defects, often caused by dual loss of the inner dynein arms (IDAs) and outer …
and laterality defects, often caused by dual loss of the inner dynein arms (IDAs) and outer …
DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm
NT Loges, H Olbrich, L Fenske, H Mussaffi… - The American Journal of …, 2008 - cell.com
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder characterized by
chronic destructive airway disease and randomization of left/right body asymmetry. Males …
chronic destructive airway disease and randomization of left/right body asymmetry. Males …
Recessive DNAH9 loss-of-function mutations cause laterality defects and subtle respiratory ciliary-beating defects
NT Loges, D Antony, A Maver, MA Deardorff… - The American Journal of …, 2018 - cell.com
Dysfunction of motile monocilia, altering the leftward flow at the embryonic node essential for
determination of left-right body asymmetry, is a major cause of laterality defects. Laterality …
determination of left-right body asymmetry, is a major cause of laterality defects. Laterality …